Canonical Allele Identifier: CA694374526
Gene: BIVM-ERCC5 HGNC NCBI
ERCC5 HGNC NCBI

Linked Data

dbSNP Id: rs1236834166
MyVariant Identifiers: chr13:g.103497927_103497951del (hg19) chr13:g.102845577_102845601del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.102845580_102845604del , CM000675.2:g.102845580_102845604del GRCh38
NC_000013.10:g.103497930_103497954del , CM000675.1:g.103497930_103497954del GRCh37
NC_000013.9:g.102295931_102295955del NCBI36
NG_007146.1:g.4757_4781del , LRG_464:g.4757_4781del

Transcript Alleles

HGVS Amino-acid Change
ENST00000638434.1:c.363-8177_363-8153del (BIVM-ERCC5)
ENST00000639118.1:c.363-3538_363-3514del (BIVM-ERCC5)
ENST00000639132.1:c.763+5777_763+5801del (BIVM-ERCC5) ENSP00000492684.1:n.763+5777_763+5801del
ENST00000639435.1:c.1450+5777_1450+5801del (BIVM-ERCC5) ENSP00000491742.1:n.1450+5777_1450+5801del
ENST00000355739.8:c.-687_-663del (ERCC5) ENSP00000347978.4:n.-687_-663del
ENST00000602836.1:c.1364+5777_1364+5801del (BIVM-ERCC5)
NM_001204425.1:c.1450+5777_1450+5801del (BIVM-ERCC5) NP_001191354.1:n.1450+5777_1450+5801del
NM_001204425.2:c.1450+5777_1450+5801del (BIVM-ERCC5) NP_001191354.2:n.1450+5777_1450+5801del
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