Gene Variant Detail

Contact

Missing content? – Request curation!

Request curation for specific Genes, Variants, or PubMed publications.

Have questions, comments, or suggestions? - Let us know!

Email us at : ckbsupport@genomenon.com

Gene ALK
Variant D1276_R1279delinsE
Impact List indel
Protein Effect gain of function
Gene Variant Descriptions ALK D1276_R1279delinsE results in a deletion of four amino acids in the protein kinase domain of the Alk protein from amino acids 1276 to 1279, combined with the insertion of a glutamic acid (E) at the same site (UniProt.org). D1276_R1279delinsE results in constitutive activation of Alk and is transforming in cell culture (PMID: 37147298).
Associated Drug Resistance
Category Variants Paths

ALK mutant ALK act mut ALK D1276_R1279delinsE

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Transcript NM_004304.5
gDNA chr2:g.29209786_29209794delCTGTAGATG
cDNA c.3828_3836delCATCTACAG
Protein .
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004304.5 chr2:g.29209786_29209794delCTGTAGATG c.3828_3836delCATCTACAG . RefSeq GRCh38/hg38
NM_004304.4 chr2:g.29209786_29209794delCTGTAGATG c.3828_3836delCATCTACAG p.D1276_R1279delinsE RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
ALK D1276_R1279delinsE neuroblastoma predicted - sensitive Crizotinib Case Reports/Case Series Actionable In a clinical case study, Xalkori (crizotinib) treatment resulted in stable disease lasting for 3 years in a neuroblastoma patient harboring ALK D1276_R1279delinsE (PMID: 37147298). 37147298