Canonical Allele Identifier: CA694374543
Gene: BIVM-ERCC5 HGNC NCBI
ERCC5 HGNC NCBI

Linked Data

dbSNP Id: rs1309472928
MyVariant Identifiers: chr13:g.103497973_103497975del (hg19) chr13:g.102845623_102845625del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.102845624_102845626del , CM000675.2:g.102845624_102845626del GRCh38
NC_000013.10:g.103497974_103497976del , CM000675.1:g.103497974_103497976del GRCh37
NC_000013.9:g.102295975_102295977del NCBI36
NG_007146.1:g.4801_4803del , LRG_464:g.4801_4803del

Transcript Alleles

HGVS Amino-acid Change
ENST00000638434.1:c.363-8133_363-8131del (BIVM-ERCC5)
ENST00000639118.1:c.363-3494_363-3492del (BIVM-ERCC5)
ENST00000639132.1:c.763+5821_763+5823del (BIVM-ERCC5) ENSP00000492684.1:n.763+5821_763+5823del
ENST00000639435.1:c.1450+5821_1450+5823del (BIVM-ERCC5) ENSP00000491742.1:n.1450+5821_1450+5823del
ENST00000355739.8:c.-643_-641del (ERCC5) ENSP00000347978.4:n.-643_-641del
ENST00000602836.1:c.1364+5821_1364+5823del (BIVM-ERCC5)
NM_001204425.1:c.1450+5821_1450+5823del (BIVM-ERCC5) NP_001191354.1:n.1450+5821_1450+5823del
NM_001204425.2:c.1450+5821_1450+5823del (BIVM-ERCC5) NP_001191354.2:n.1450+5821_1450+5823del
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