Canonical Allele Identifier: CA2517255579

Gene: ERCC5 BIVM-ERCC5

Linked Data

• gnomAD v4: 13-102845972-CGCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102845974_102845976del , CM000675.2:g.102845974_102845976del	GRCh38
NC_000013.10:g.103498324_103498326del , CM000675.1:g.103498324_103498326del	GRCh37
NC_000013.9:g.102296325_102296327del	NCBI36
NG_007146.1:g.5151_5153del , LRG_464:g.5151_5153del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683246.1:n.70_72del (ERCC5)
ENST00000638434.1:c.363-7783_363-7781del (BIVM-ERCC5)
ENST00000639118.1:c.363-3144_363-3142del (BIVM-ERCC5)
ENST00000639132.1:c.764-6144_764-6142del (BIVM-ERCC5)	ENSP00000492684.1:n.764-6144_764-6142del
ENST00000639435.1:c.1451-6144_1451-6142del (BIVM-ERCC5)	ENSP00000491742.1:n.1451-6144_1451-6142del
ENST00000651002.1:c.-293_-291del (ERCC5)	ENSP00000498809.1:n.-293_-291del
ENST00000652613.1:c.-790_-788del (ERCC5)	ENSP00000498357.1:n.-790_-788del
ENST00000355739.8:c.-293_-291del (ERCC5)	ENSP00000347978.4:n.-293_-291del
ENST00000535557.5:c.-293_-291del (ERCC5)	ENSP00000442117.1:n.-293_-291del
ENST00000602836.1:c.1365-6144_1365-6142del (BIVM-ERCC5)
NM_000123.3:c.-293_-291del , LRG_464t1:c.-293_-291del (ERCC5)	NP_000114.2:n.-293_-291del
NM_001204425.1:c.1451-6144_1451-6142del (BIVM-ERCC5)	NP_001191354.1:n.1451-6144_1451-6142del
NM_001204425.2:c.1451-6144_1451-6142del (BIVM-ERCC5)	NP_001191354.2:n.1451-6144_1451-6142del