Canonical Allele Identifier: CA612360724

Gene: ERCC5 BIVM-ERCC5

Linked Data

• dbSNP Id: rs1566474574
• gnomAD v2: 13-103527963-AC-A
• gnomAD v4: 13-102875613-AC-A
• MyVariant Identifiers: chr13:g.103527964del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102875615del , CM000675.2:g.102875615del	GRCh38
NC_000013.10:g.103527965del , CM000675.1:g.103527965del	GRCh37
NC_000013.9:g.102325966del	NCBI36
NG_007146.1:g.34792del , LRG_464:g.34792del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.4374del (ERCC5)
ENST00000682869.1:n.3922del (ERCC5)
ENST00000683246.1:n.4910del (ERCC5)
ENST00000683642.1:n.3503del (ERCC5)
ENST00000639132.1:c.3948del (BIVM-ERCC5)	ENSP00000492684.1:p.Cys1317AlafsTer19
ENST00000639435.1:c.4635del (BIVM-ERCC5)	ENSP00000491742.1:p.Cys1546AlafsTer19
ENST00000651002.1:c.*3034del (ERCC5)	ENSP00000498809.1:n.*3034del
ENST00000651055.1:n.3400del (ERCC5)
ENST00000651281.1:n.3641del (ERCC5)
ENST00000651387.1:n.2757del (ERCC5)
ENST00000651470.1:c.*445del (ERCC5)	ENSP00000498701.1:n.*445del
ENST00000652225.2:c.3273del (ERCC5) MANE Select	ENSP00000498881.2:p.Cys1092AlafsTer19
ENST00000652613.1:c.2769del (ERCC5)	ENSP00000498357.1:p.Cys924AlafsTer19
ENST00000355739.8:c.3273del (ERCC5)	ENSP00000347978.4:p.Cys1092AlafsTer19
ENST00000375954.1:c.972del (ERCC5)	ENSP00000365121.1:p.Cys325AlafsTer19
ENST00000472247.1:n.433del (ERCC5)
ENST00000610537.4:c.3270del (ERCC5)	ENSP00000478667.1:p.Cys1091AlafsTer19
NM_000123.3:c.3273del , LRG_464t1:c.3273del (ERCC5)	NP_000114.2:p.Cys1092AlafsTer19
NM_001204425.1:c.4635del (BIVM-ERCC5)	NP_001191354.1:p.Cys1546AlafsTer19
NM_000123.4:c.3273del (ERCC5) MANE Select	NP_000114.3:p.Cys1092AlafsTer19
NM_001204425.2:c.4635del (BIVM-ERCC5)	NP_001191354.2:p.Cys1546AlafsTer19