Canonical Allele Identifier: CA612075213
Gene: BIVM-ERCC5 HGNC NCBI
ERCC5 HGNC NCBI

Linked Data

dbSNP Id: rs1335401629

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.102845773del , CM000675.2:g.102845773del GRCh38
NC_000013.10:g.103498123del , CM000675.1:g.103498123del GRCh37
NC_000013.9:g.102296124del NCBI36
NG_007146.1:g.4950del , LRG_464:g.4950del

Transcript Alleles

HGVS Amino-acid Change
ENST00000638434.1:c.363-7984del (BIVM-ERCC5)
ENST00000639118.1:c.363-3345del (BIVM-ERCC5)
ENST00000639132.1:c.763+5970del (BIVM-ERCC5) ENSP00000492684.1:n.763+5970del
ENST00000639435.1:c.1450+5970del (BIVM-ERCC5) ENSP00000491742.1:n.1450+5970del
ENST00000355739.8:c.-494del (ERCC5) ENSP00000347978.4:n.-494del
ENST00000602836.1:c.1364+5970del (BIVM-ERCC5)
NM_001204425.1:c.1450+5970del (BIVM-ERCC5) NP_001191354.1:n.1450+5970del
NM_001204425.2:c.1450+5970del (BIVM-ERCC5) NP_001191354.2:n.1450+5970del