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Gene | CDKN2A |
Variant | A36_N39delinsD |
Impact List | indel |
Protein Effect | unknown |
Gene Variant Descriptions | CDKN2A A36_N39delinsD results in the deletion of four amino acids in ANK repeat 1 of the Cdkn2a protein from aa 36 to aa 39, combined with the insertion of an aspartic acid (D) at the same site (UniProt.org). A36_N39delinsD has not been characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, May 2024). |
Associated Drug Resistance | |
Category Variants Paths |
CDKN2A mutant CDKN2A A36_N39delinsD |
Transcript | NM_000077.5 |
gDNA | chr9:g.21974713_21974721delTGGGCAGCG |
cDNA | c.107_115delCGCTGCCCA |
Protein | p.A36_N39delinsD |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000077.5 | chr9:g.21974713_21974721delTGGGCAGCG | c.107_115delCGCTGCCCA | p.A36_N39delinsD | RefSeq | GRCh38/hg38 |
NM_058197.5 | chr9:g.21974713_21974721delTGGGCAGCG | c.107_115delCGCTGCCCA | p.A36_N39delinsD | RefSeq | GRCh38/hg38 |
NM_001195132.2 | chr9:g.21974713_21974721delTGGGCAGCG | c.107_115delCGCTGCCCA | p.A36_N39delinsD | RefSeq | GRCh38/hg38 |
XM_011517676.3 | chr9:g.21974713_21974721delTGGGCAGCG | c.107_115delCGCTGCCCA | p.A36_N39delinsD | RefSeq | GRCh38/hg38 |
XM_011517675.3 | chr9:g.21974713_21974721delTGGGCAGCG | c.107_115delCGCTGCCCA | p.A36_N39delinsD | RefSeq | GRCh38/hg38 |
NM_001195132.1 | chr9:g.21974713_21974721delTGGGCAGCG | c.107_115delCGCTGCCCA | p.A36_N39delinsD | RefSeq | GRCh38/hg38 |
NM_000077.4 | chr9:g.21974713_21974721delTGGGCAGCG | c.107_115delCGCTGCCCA | p.A36_N39delinsD | RefSeq | GRCh38/hg38 |
XM_011517676.2 | chr9:g.21974713_21974721delTGGGCAGCG | c.107_115delCGCTGCCCA | p.A36_N39delinsD | RefSeq | GRCh38/hg38 |
XM_011517675.2 | chr9:g.21974713_21974721delTGGGCAGCG | c.107_115delCGCTGCCCA | p.A36_N39delinsD | RefSeq | GRCh38/hg38 |
NM_058197.4 | chr9:g.21974713_21974721delTGGGCAGCG | c.107_115delCGCTGCCCA | p.A36_N39delinsD | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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