ALK D1276_R1279delinsE
Gene Variant Detail

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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

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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_004304.4 chr2:g.29209786_29209794delCTGTAGATG c.3828_3836delCATCTACAG p.D1276_R1279delinsE RefSeq GRCh38/hg38
NM_004304.5 chr2:g.29209786_29209794delCTGTAGATG c.3828_3836delCATCTACAG . RefSeq GRCh38/hg38

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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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