Canonical Allele Identifier: CA2115202960

Gene: BIVM-ERCC5 ERCC5

Linked Data

• dbSNP Id: rs1881916667

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102845537_102845539del , CM000675.2:g.102845537_102845539del	GRCh38
NC_000013.10:g.103497887_103497889del , CM000675.1:g.103497887_103497889del	GRCh37
NC_000013.9:g.102295888_102295890del	NCBI36
NG_007146.1:g.4714_4716del , LRG_464:g.4714_4716del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000638434.1:c.363-8220_363-8218del (BIVM-ERCC5)
ENST00000639118.1:c.363-3581_363-3579del (BIVM-ERCC5)
ENST00000639132.1:c.763+5734_763+5736del (BIVM-ERCC5)	ENSP00000492684.1:n.763+5734_763+5736del
ENST00000639435.1:c.1450+5734_1450+5736del (BIVM-ERCC5)	ENSP00000491742.1:n.1450+5734_1450+5736del
ENST00000355739.8:c.-730_-728del (ERCC5)	ENSP00000347978.4:n.-730_-728del
ENST00000602836.1:c.1364+5734_1364+5736del (BIVM-ERCC5)
NM_001204425.1:c.1450+5734_1450+5736del (BIVM-ERCC5)	NP_001191354.1:n.1450+5734_1450+5736del
NM_001204425.2:c.1450+5734_1450+5736del (BIVM-ERCC5)	NP_001191354.2:n.1450+5734_1450+5736del