Canonical Allele Identifier: CA2623612716

Gene: BIVM-ERCC5 ERCC5

Linked Data

• gnomAD v4: 13-102845803-G-GC

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102845806dup , CM000675.2:g.102845806dup	GRCh38
NC_000013.10:g.103498156dup , CM000675.1:g.103498156dup	GRCh37
NC_000013.9:g.102296157dup	NCBI36
NG_007146.1:g.4983dup , LRG_464:g.4983dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000638434.1:c.363-7951dup (BIVM-ERCC5)
ENST00000639118.1:c.363-3312dup (BIVM-ERCC5)
ENST00000639132.1:c.763+6003dup (BIVM-ERCC5)	ENSP00000492684.1:n.763+6003dup
ENST00000639435.1:c.1450+6003dup (BIVM-ERCC5)	ENSP00000491742.1:n.1450+6003dup
ENST00000355739.8:c.-461dup (ERCC5)	ENSP00000347978.4:n.-461dup
ENST00000602836.1:c.1364+6003dup (BIVM-ERCC5)
NM_001204425.1:c.1450+6003dup (BIVM-ERCC5)	NP_001191354.1:n.1450+6003dup
NM_001204425.2:c.1450+6003dup (BIVM-ERCC5)	NP_001191354.2:n.1450+6003dup