Canonical Allele Identifier: CA7041638

Gene: ERCC5 BIVM-ERCC5

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102866739del , CM000675.2:g.102866739del	GRCh38
NC_000013.10:g.103519089del , CM000675.1:g.103519089del	GRCh37
NC_000013.9:g.102317090del	NCBI36
NG_007146.1:g.25916del , LRG_464:g.25916del

Transcript Alleles

HGVS	Amino-acid Change
NM_000123.4:c.2427del (ERCC5) MANE Select	NP_000114.3:p.Asp809GlufsTer24
ENST00000652225.2:c.2427del (ERCC5) MANE Select	ENSP00000498881.2:p.Asp809GlufsTer24
NM_000123.3:c.2427del , LRG_464t1:c.2427del (ERCC5)	NP_000114.2:p.Asp809GlufsTer24
NM_001204425.1:c.3789del (BIVM-ERCC5)	NP_001191354.1:p.Asp1263GlufsTer24
NM_001204425.2:c.3789del (BIVM-ERCC5)	NP_001191354.2:p.Asp1263GlufsTer24
ENST00000355739.8:c.2427del (ERCC5)	ENSP00000347978.4:p.Asp809GlufsTer24
ENST00000375954.1:c.126del (ERCC5)	ENSP00000365121.1:p.Asp42GlufsTer24
ENST00000481099.1:n.547del (ERCC5)
ENST00000602836.1:c.3703del (BIVM-ERCC5)
ENST00000610537.4:c.2427del (ERCC5)	ENSP00000478667.1:p.Asp809GlufsTer24
ENST00000639132.1:c.3102del (BIVM-ERCC5)	ENSP00000492684.1:p.Asp1034GlufsTer24
ENST00000639435.1:c.3789del (BIVM-ERCC5)	ENSP00000491742.1:p.Asp1263GlufsTer24
ENST00000651002.1:c.*2188del (ERCC5)	ENSP00000498809.1:n.*2188del
ENST00000651055.1:n.2556del (ERCC5)
ENST00000651281.1:n.2795del (ERCC5)
ENST00000651387.1:n.1911del (ERCC5)
ENST00000651470.1:c.2427del (ERCC5)	ENSP00000498701.1:p.Asp809GlufsTer24
ENST00000652613.1:c.1923del (ERCC5)	ENSP00000498357.1:p.Asp641GlufsTer24
ENST00000682632.1:n.2668del (ERCC5)
ENST00000682869.1:n.3076del (ERCC5)
ENST00000683246.1:n.3204del (ERCC5)