Canonical Allele Identifier: CA2729204251

Gene: ERCC5 BIVM-ERCC5

Linked Data

• dbSNP Id: rs2140543550

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102875610del , CM000675.2:g.102875610del	GRCh38
NC_000013.10:g.103527960del , CM000675.1:g.103527960del	GRCh37
NC_000013.9:g.102325961del	NCBI36
NG_007146.1:g.34787del , LRG_464:g.34787del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.4369del (ERCC5)
ENST00000682869.1:n.3917del (ERCC5)
ENST00000683246.1:n.4905del (ERCC5)
ENST00000683642.1:n.3498del (ERCC5)
ENST00000639132.1:c.3943del (BIVM-ERCC5)	ENSP00000492684.1:p.Glu1315ArgfsTer21
ENST00000639435.1:c.4630del (BIVM-ERCC5)	ENSP00000491742.1:p.Glu1544ArgfsTer21
ENST00000651002.1:c.*3029del (ERCC5)	ENSP00000498809.1:n.*3029del
ENST00000651055.1:n.3395del (ERCC5)
ENST00000651281.1:n.3636del (ERCC5)
ENST00000651387.1:n.2752del (ERCC5)
ENST00000651470.1:c.*440del (ERCC5)	ENSP00000498701.1:n.*440del
ENST00000652225.2:c.3268del (ERCC5) MANE Select	ENSP00000498881.2:p.Glu1090ArgfsTer21
ENST00000652613.1:c.2764del (ERCC5)	ENSP00000498357.1:p.Glu922ArgfsTer21
ENST00000355739.8:c.3268del (ERCC5)	ENSP00000347978.4:p.Glu1090ArgfsTer21
ENST00000375954.1:c.967del (ERCC5)	ENSP00000365121.1:p.Glu323ArgfsTer21
ENST00000472247.1:n.428del (ERCC5)
ENST00000610537.4:c.3265del (ERCC5)	ENSP00000478667.1:p.Glu1089ArgfsTer21
NM_000123.3:c.3268del , LRG_464t1:c.3268del (ERCC5)	NP_000114.2:p.Glu1090ArgfsTer21
NM_001204425.1:c.4630del (BIVM-ERCC5)	NP_001191354.1:p.Glu1544ArgfsTer21
NM_000123.4:c.3268del (ERCC5) MANE Select	NP_000114.3:p.Glu1090ArgfsTer21
NM_001204425.2:c.4630del (BIVM-ERCC5)	NP_001191354.2:p.Glu1544ArgfsTer21