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 | CDKN2A |
Variant | L32_L37del |
Impact List | deletion |
Protein Effect | unknown |
Gene Variant Descriptions | CDKN2A L32_L37del results in the deletion of six amino acids in ANK repeat 1 of the Cdkn2a protein from amino acids 32 to 37 (UniProt.org). L32_L37del has been identified in the scientific literature (PMID: 33050356), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Jun 2024). |
Associated Drug Resistance | |
Category Variants Paths |
CDKN2A mutant CDKN2A L32_L37del |
Transcript | NM_000077.5 |
gDNA | chr9:g.21974725_21974742del18 |
cDNA | c.95_112del18 |
Protein | p.L32_L37delLEAGAL |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001195132.2 | chr9:g.21974725_21974742del18 | c.95_112del18 | p.L32_L37delLEAGAL | RefSeq | GRCh38/hg38 |
NM_001195132.1 | chr9:g.21974725_21974742del18 | c.95_112del18 | p.L32_L37del | RefSeq | GRCh38/hg38 |
NM_001363763.2 | chr9:g.21971096_21971113del18 | c.94_111del18 | p.H32_E37delHDAARE | RefSeq | GRCh38/hg38 |
XM_047422597.1 | chr9:g.21971096_21971113del18 | c.94_111del18 | p.H32_E37delHDAARE | RefSeq | GRCh38/hg38 |
XM_011517675.3 | chr9:g.21974725_21974742del18 | c.95_112del18 | p.L32_L37delLEAGAL | RefSeq | GRCh38/hg38 |
XM_011517676.2 | chr9:g.21974725_21974742del18 | c.95_112del18 | p.L32_L37del | RefSeq | GRCh38/hg38 |
XM_047422598.1 | chr9:g.21971096_21971113del18 | c.94_111del18 | p.H32_E37delHDAARE | RefSeq | GRCh38/hg38 |
NM_000077.5 | chr9:g.21974725_21974742del18 | c.95_112del18 | p.L32_L37delLEAGAL | RefSeq | GRCh38/hg38 |
NM_058195.4 | chr9:g.21994221_21994238del18 | c.98_115del18 | p.E33_G38delEWAAPG | RefSeq | GRCh38/hg38 |
NM_000077.4 | chr9:g.21974725_21974742del18 | c.95_112del18 | p.L32_L37del | RefSeq | GRCh38/hg38 |
NM_058197.5 | chr9:g.21974725_21974742del18 | c.95_112del18 | p.L32_L37delLEAGAL | RefSeq | GRCh38/hg38 |
NM_058197.4 | chr9:g.21974725_21974742del18 | c.95_112del18 | p.L32_L37del | RefSeq | GRCh38/hg38 |
XM_011517675.2 | chr9:g.21974725_21974742del18 | c.95_112del18 | p.L32_L37del | RefSeq | GRCh38/hg38 |
XM_011517676.3 | chr9:g.21974725_21974742del18 | c.95_112del18 | p.L32_L37delLEAGAL | RefSeq | GRCh38/hg38 |
XM_047422596.1 | chr9:g.21971096_21971113del18 | c.94_111del18 | p.H32_E37delHDAARE | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|