Canonical Allele Identifier: CA2115203017

Gene: BIVM-ERCC5 ERCC5

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102845636_102845639delinsTCCA , CM000675.2:g.102845636_102845639delinsTCCA	GRCh38
NC_000013.10:g.103497986_103497989delinsTCCA , CM000675.1:g.103497986_103497989delinsTCCA	GRCh37
NC_000013.9:g.102295987_102295990delinsTCCA	NCBI36
NG_007146.1:g.4813_4816delinsTCCA , LRG_464:g.4813_4816delinsTCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000638434.1:c.363-8121_363-8118delinsTCCA (BIVM-ERCC5)
ENST00000639118.1:c.363-3482_363-3479delinsTCCA (BIVM-ERCC5)
ENST00000639132.1:c.763+5833_763+5836delinsTCCA (BIVM-ERCC5)	ENSP00000492684.1:n.763+5833_763+5836delinsTCCA
ENST00000639435.1:c.1450+5833_1450+5836delinsTCCA (BIVM-ERCC5)	ENSP00000491742.1:n.1450+5833_1450+5836delinsTCCA
ENST00000355739.8:c.-631_-628delinsTCCA (ERCC5)	ENSP00000347978.4:n.-631_-628delinsTCCA
ENST00000602836.1:c.1364+5833_1364+5836delinsTCCA (BIVM-ERCC5)
NM_001204425.1:c.1450+5833_1450+5836delinsTCCA (BIVM-ERCC5)	NP_001191354.1:n.1450+5833_1450+5836delinsTCCA
NM_001204425.2:c.1450+5833_1450+5836delinsTCCA (BIVM-ERCC5)	NP_001191354.2:n.1450+5833_1450+5836delinsTCCA