Canonical Allele Identifier: CA2115202958

Gene: BIVM-ERCC5 ERCC5

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102845532_102845535delinsGGCA , CM000675.2:g.102845532_102845535delinsGGCA	GRCh38
NC_000013.10:g.103497882_103497885delinsGGCA , CM000675.1:g.103497882_103497885delinsGGCA	GRCh37
NC_000013.9:g.102295883_102295886delinsGGCA	NCBI36
NG_007146.1:g.4709_4712delinsGGCA , LRG_464:g.4709_4712delinsGGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000638434.1:c.363-8225_363-8222delinsGGCA (BIVM-ERCC5)
ENST00000639118.1:c.363-3586_363-3583delinsGGCA (BIVM-ERCC5)
ENST00000639132.1:c.763+5729_763+5732delinsGGCA (BIVM-ERCC5)	ENSP00000492684.1:n.763+5729_763+5732delinsGGCA
ENST00000639435.1:c.1450+5729_1450+5732delinsGGCA (BIVM-ERCC5)	ENSP00000491742.1:n.1450+5729_1450+5732delinsGGCA
ENST00000355739.8:c.-735_-732delinsGGCA (ERCC5)	ENSP00000347978.4:n.-735_-732delinsGGCA
ENST00000602836.1:c.1364+5729_1364+5732delinsGGCA (BIVM-ERCC5)
NM_001204425.1:c.1450+5729_1450+5732delinsGGCA (BIVM-ERCC5)	NP_001191354.1:n.1450+5729_1450+5732delinsGGCA
NM_001204425.2:c.1450+5729_1450+5732delinsGGCA (BIVM-ERCC5)	NP_001191354.2:n.1450+5729_1450+5732delinsGGCA