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Gene CDKN2A
Variant E27del
Impact List deletion
Protein Effect unknown
Gene Variant Descriptions CDKN2A E27del results in the deletion of an amino acid in ANK repeat 1 of the Cdkn2a protein at amino acid 27 (UniProt.org). E27del has been identified in sequencing studies (PMID: 33635883), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, May 2024).
Associated Drug Resistance
Category Variants Paths

CDKN2A mutant CDKN2A E27del

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Transcript NM_000077.5
gDNA chr9:g.21974750_21974752delCTC
cDNA c.80_82delAGG
Protein p.E27delE
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001195132.2 chr9:g.21974750_21974752delCTC c.80_82delAGG p.E27delE RefSeq GRCh38/hg38
XM_047422596.1 chr9:g.21971125_21971127delGAG c.79_81delCTC p.L27delL RefSeq GRCh38/hg38
NM_058197.4 chr9:g.21974750_21974752delCTC c.80_82delAGG p.E27delE RefSeq GRCh38/hg38
NM_001363763.2 chr9:g.21971125_21971127delGAG c.79_81delCTC p.L27delL RefSeq GRCh38/hg38
XM_011517675.3 chr9:g.21974750_21974752delCTC c.80_82delAGG p.E27delE RefSeq GRCh38/hg38
NM_001195132.1 chr9:g.21974750_21974752delCTC c.80_82delAGG p.E27delE RefSeq GRCh38/hg38
XM_011517676.2 chr9:g.21974750_21974752delCTC c.80_82delAGG p.E27delE RefSeq GRCh38/hg38
XM_047422598.1 chr9:g.21971125_21971127delGAG c.79_81delCTC p.L27delL RefSeq GRCh38/hg38
XM_011517676.3 chr9:g.21974750_21974752delCTC c.80_82delAGG p.E27delE RefSeq GRCh38/hg38
NM_058195.4 chr9:g.21994252_21994254delATG c.79_81delATC p.I27delI RefSeq GRCh38/hg38
NM_000077.5 chr9:g.21974750_21974752delCTC c.80_82delAGG p.E27delE RefSeq GRCh38/hg38
NM_000077.4 chr9:g.21974750_21974752delCTC c.80_82delAGG p.E27del RefSeq GRCh38/hg38
NM_058197.5 chr9:g.21974750_21974752delCTC c.80_82delAGG p.E27delE RefSeq GRCh38/hg38
XM_011517675.2 chr9:g.21974750_21974752delCTC c.80_82delAGG p.E27delE RefSeq GRCh38/hg38
XM_047422597.1 chr9:g.21971125_21971127delGAG c.79_81delCTC p.L27delL RefSeq GRCh38/hg38

Filtering

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References