Canonical Allele Identifier: CA2115203008

Gene: BIVM-ERCC5 ERCC5

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102845622_102845625delinsCAAA , CM000675.2:g.102845622_102845625delinsCAAA	GRCh38
NC_000013.10:g.103497972_103497975delinsCAAA , CM000675.1:g.103497972_103497975delinsCAAA	GRCh37
NC_000013.9:g.102295973_102295976delinsCAAA	NCBI36
NG_007146.1:g.4799_4802delinsCAAA , LRG_464:g.4799_4802delinsCAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000638434.1:c.363-8135_363-8132delinsCAAA (BIVM-ERCC5)
ENST00000639118.1:c.363-3496_363-3493delinsCAAA (BIVM-ERCC5)
ENST00000639132.1:c.763+5819_763+5822delinsCAAA (BIVM-ERCC5)	ENSP00000492684.1:n.763+5819_763+5822delinsCAAA
ENST00000639435.1:c.1450+5819_1450+5822delinsCAAA (BIVM-ERCC5)	ENSP00000491742.1:n.1450+5819_1450+5822delinsCAAA
ENST00000355739.8:c.-645_-642delinsCAAA (ERCC5)	ENSP00000347978.4:n.-645_-642delinsCAAA
ENST00000602836.1:c.1364+5819_1364+5822delinsCAAA (BIVM-ERCC5)
NM_001204425.1:c.1450+5819_1450+5822delinsCAAA (BIVM-ERCC5)	NP_001191354.1:n.1450+5819_1450+5822delinsCAAA
NM_001204425.2:c.1450+5819_1450+5822delinsCAAA (BIVM-ERCC5)	NP_001191354.2:n.1450+5819_1450+5822delinsCAAA