Canonical Allele Identifier: CA2623612689

Gene: BIVM-ERCC5 ERCC5

Linked Data

• gnomAD v4: 13-102845790-AGGCGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102845791_102845795del , CM000675.2:g.102845791_102845795del	GRCh38
NC_000013.10:g.103498141_103498145del , CM000675.1:g.103498141_103498145del	GRCh37
NC_000013.9:g.102296142_102296146del	NCBI36
NG_007146.1:g.4968_4972del , LRG_464:g.4968_4972del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000638434.1:c.363-7966_363-7962del (BIVM-ERCC5)
ENST00000639118.1:c.363-3327_363-3323del (BIVM-ERCC5)
ENST00000639132.1:c.763+5988_763+5992del (BIVM-ERCC5)	ENSP00000492684.1:n.763+5988_763+5992del
ENST00000639435.1:c.1450+5988_1450+5992del (BIVM-ERCC5)	ENSP00000491742.1:n.1450+5988_1450+5992del
ENST00000355739.8:c.-476_-472del (ERCC5)	ENSP00000347978.4:n.-476_-472del
ENST00000602836.1:c.1364+5988_1364+5992del (BIVM-ERCC5)
NM_001204425.1:c.1450+5988_1450+5992del (BIVM-ERCC5)	NP_001191354.1:n.1450+5988_1450+5992del
NM_001204425.2:c.1450+5988_1450+5992del (BIVM-ERCC5)	NP_001191354.2:n.1450+5988_1450+5992del