Canonical Allele Identifier: CA2623612742

Gene: ERCC5 BIVM-ERCC5

Linked Data

• gnomAD v4: 13-102873417-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102873419del , CM000675.2:g.102873419del	GRCh38
NC_000013.10:g.103525769del , CM000675.1:g.103525769del	GRCh37
NC_000013.9:g.102323770del	NCBI36
NG_007146.1:g.32596del , LRG_464:g.32596del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.4065+76del (ERCC5)
ENST00000682869.1:n.3613+76del (ERCC5)
ENST00000683246.1:n.4601+76del (ERCC5)
ENST00000683642.1:n.3194+76del (ERCC5)
ENST00000639132.1:c.3639+76del (BIVM-ERCC5)	ENSP00000492684.1:n.3639+76del
ENST00000639435.1:c.4326+76del (BIVM-ERCC5)	ENSP00000491742.1:n.4326+76del
ENST00000651002.1:c.*2725+76del (ERCC5)	ENSP00000498809.1:n.*2725+76del
ENST00000651055.1:n.3091+76del (ERCC5)
ENST00000651281.1:n.3332+76del (ERCC5)
ENST00000651387.1:n.2448+76del (ERCC5)
ENST00000651470.1:c.*136+76del (ERCC5)	ENSP00000498701.1:n.*136+76del
ENST00000652225.2:c.2964+76del (ERCC5) MANE Select	ENSP00000498881.2:n.2964+76del
ENST00000652613.1:c.2460+76del (ERCC5)	ENSP00000498357.1:n.2460+76del
ENST00000355739.8:c.2964+76del (ERCC5)	ENSP00000347978.4:n.2964+76del
ENST00000375954.1:c.663+76del (ERCC5)	ENSP00000365121.1:n.663+76del
ENST00000610537.4:c.2961+76del (ERCC5)	ENSP00000478667.1:n.2961+76del
NM_000123.3:c.2964+76del , LRG_464t1:c.2964+76del (ERCC5)	NP_000114.2:n.2964+76del
NM_001204425.1:c.4326+76del (BIVM-ERCC5)	NP_001191354.1:n.4326+76del
NM_000123.4:c.2964+76del (ERCC5) MANE Select	NP_000114.3:n.2964+76del
NM_001204425.2:c.4326+76del (BIVM-ERCC5)	NP_001191354.2:n.4326+76del