Canonical Allele Identifier: CA612360335

Gene: ERCC5 BIVM-ERCC5

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102862217del , CM000675.2:g.102862217del	GRCh38
NC_000013.10:g.103514567del , CM000675.1:g.103514567del	GRCh37
NC_000013.9:g.102312568del	NCBI36
NG_007146.1:g.21394del , LRG_464:g.21394del

Transcript Alleles

HGVS	Amino-acid Change
NM_000123.4:c.1068del (ERCC5) MANE Select	NP_000114.3:p.Ser357GlnfsTer22
ENST00000652225.2:c.1068del (ERCC5) MANE Select	ENSP00000498881.2:p.Ser357GlnfsTer22
NM_000123.3:c.1068del , LRG_464t1:c.1068del (ERCC5)	NP_000114.2:p.Ser357GlnfsTer22
NM_001204425.1:c.2430del (BIVM-ERCC5)	NP_001191354.1:p.Ser811GlnfsTer22
NM_001204425.2:c.2430del (BIVM-ERCC5)	NP_001191354.2:p.Ser811GlnfsTer22
ENST00000355739.8:c.1068del (ERCC5)	ENSP00000347978.4:p.Ser357GlnfsTer22
ENST00000602836.1:c.2344del (BIVM-ERCC5)
ENST00000610537.4:c.1068del (ERCC5)	ENSP00000478667.1:p.Ser357GlnfsTer22
ENST00000639132.1:c.1743del (BIVM-ERCC5)	ENSP00000492684.1:p.Ser582GlnfsTer22
ENST00000639435.1:c.2430del (BIVM-ERCC5)	ENSP00000491742.1:p.Ser811GlnfsTer22
ENST00000651002.1:c.*829del (ERCC5)	ENSP00000498809.1:n.*829del
ENST00000651055.1:n.1197del (ERCC5)
ENST00000651281.1:n.1436del (ERCC5)
ENST00000651387.1:n.552del (ERCC5)
ENST00000651470.1:c.1068del (ERCC5)	ENSP00000498701.1:p.Ser357GlnfsTer22
ENST00000652613.1:c.564del (ERCC5)	ENSP00000498357.1:p.Ser189GlnfsTer22
ENST00000682632.1:n.1309del (ERCC5)
ENST00000682869.1:n.1717del (ERCC5)
ENST00000683246.1:n.1845del (ERCC5)