Canonical Allele Identifier: CA2580087053

Gene: ERCC5 BIVM-ERCC5

Linked Data

• ClinVar Variation Id: 1878262
• ClinVar RCV Id: RCV002510315

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102873269del , CM000675.2:g.102873269del	GRCh38
NC_000013.10:g.103525619del , CM000675.1:g.103525619del	GRCh37
NC_000013.9:g.102323620del	NCBI36
NG_007146.1:g.32446del , LRG_464:g.32446del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.3991del (ERCC5)
ENST00000682869.1:n.3539del (ERCC5)
ENST00000683246.1:n.4527del (ERCC5)
ENST00000683642.1:n.3120del (ERCC5)
ENST00000639132.1:c.3565del (BIVM-ERCC5)	ENSP00000492684.1:p.Arg1189GlyfsTer18
ENST00000639435.1:c.4252del (BIVM-ERCC5)	ENSP00000491742.1:p.Arg1418GlyfsTer18
ENST00000651002.1:c.*2651del (ERCC5)	ENSP00000498809.1:n.*2651del
ENST00000651055.1:n.3017del (ERCC5)
ENST00000651281.1:n.3258del (ERCC5)
ENST00000651387.1:n.2374del (ERCC5)
ENST00000651470.1:c.*62del (ERCC5)	ENSP00000498701.1:n.*62del
ENST00000652225.2:c.2890del (ERCC5) MANE Select	ENSP00000498881.2:p.Arg964GlyfsTer18
ENST00000652613.1:c.2386del (ERCC5)	ENSP00000498357.1:p.Arg796GlyfsTer18
ENST00000355739.8:c.2890del (ERCC5)	ENSP00000347978.4:p.Arg964GlyfsTer18
ENST00000375954.1:c.589del (ERCC5)	ENSP00000365121.1:p.Arg197GlyfsTer18
ENST00000610537.4:c.2887del (ERCC5)	ENSP00000478667.1:p.Arg963GlyfsTer18
NM_000123.3:c.2890del , LRG_464t1:c.2890del (ERCC5)	NP_000114.2:p.Arg964GlyfsTer18
NM_001204425.1:c.4252del (BIVM-ERCC5)	NP_001191354.1:p.Arg1418GlyfsTer18
NM_000123.4:c.2890del (ERCC5) MANE Select	NP_000114.3:p.Arg964GlyfsTer18
NM_001204425.2:c.4252del (BIVM-ERCC5)	NP_001191354.2:p.Arg1418GlyfsTer18