Canonical Allele Identifier: CA2115202963

Gene: BIVM-ERCC5 ERCC5

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102845538_102845539delinsAG , CM000675.2:g.102845538_102845539delinsAG	GRCh38
NC_000013.10:g.103497888_103497889delinsAG , CM000675.1:g.103497888_103497889delinsAG	GRCh37
NC_000013.9:g.102295889_102295890delinsAG	NCBI36
NG_007146.1:g.4715_4716delinsAG , LRG_464:g.4715_4716delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000638434.1:c.363-8219_363-8218delinsAG (BIVM-ERCC5)
ENST00000639118.1:c.363-3580_363-3579delinsAG (BIVM-ERCC5)
ENST00000639132.1:c.763+5735_763+5736delinsAG (BIVM-ERCC5)	ENSP00000492684.1:n.763+5735_763+5736delinsAG
ENST00000639435.1:c.1450+5735_1450+5736delinsAG (BIVM-ERCC5)	ENSP00000491742.1:n.1450+5735_1450+5736delinsAG
ENST00000355739.8:c.-729_-728delinsAG (ERCC5)	ENSP00000347978.4:n.-729_-728delinsAG
ENST00000602836.1:c.1364+5735_1364+5736delinsAG (BIVM-ERCC5)
NM_001204425.1:c.1450+5735_1450+5736delinsAG (BIVM-ERCC5)	NP_001191354.1:n.1450+5735_1450+5736delinsAG
NM_001204425.2:c.1450+5735_1450+5736delinsAG (BIVM-ERCC5)	NP_001191354.2:n.1450+5735_1450+5736delinsAG