Canonical Allele Identifier: CA2623612267

Gene: BIVM-ERCC5 ERCC5

Linked Data

• gnomAD v4: 13-102845498-TGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102845502_102845503del , CM000675.2:g.102845502_102845503del	GRCh38
NC_000013.10:g.103497852_103497853del , CM000675.1:g.103497852_103497853del	GRCh37
NC_000013.9:g.102295853_102295854del	NCBI36
NG_007146.1:g.4679_4680del , LRG_464:g.4679_4680del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000638434.1:c.363-8255_363-8254del (BIVM-ERCC5)
ENST00000639118.1:c.363-3616_363-3615del (BIVM-ERCC5)
ENST00000639132.1:c.763+5699_763+5700del (BIVM-ERCC5)	ENSP00000492684.1:n.763+5699_763+5700del
ENST00000639435.1:c.1450+5699_1450+5700del (BIVM-ERCC5)	ENSP00000491742.1:n.1450+5699_1450+5700del
ENST00000355739.8:c.-765_-764del (ERCC5)	ENSP00000347978.4:n.-765_-764del
ENST00000602836.1:c.1364+5699_1364+5700del (BIVM-ERCC5)
NM_001204425.1:c.1450+5699_1450+5700del (BIVM-ERCC5)	NP_001191354.1:n.1450+5699_1450+5700del
NM_001204425.2:c.1450+5699_1450+5700del (BIVM-ERCC5)	NP_001191354.2:n.1450+5699_1450+5700del