Canonical Allele Identifier: CA694374722
Gene: BIVM-ERCC5 HGNC NCBI
ERCC5 HGNC NCBI

Linked Data

dbSNP Id: rs1471703393
MyVariant Identifiers: chr13:g.103498185del (hg19) chr13:g.102845835del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.102845837del , CM000675.2:g.102845837del GRCh38
NC_000013.10:g.103498187del , CM000675.1:g.103498187del GRCh37
NC_000013.9:g.102296188del NCBI36
NG_007146.1:g.5014del , LRG_464:g.5014del

Transcript Alleles

HGVS Amino-acid Change
ENST00000638434.1:c.363-7920del (BIVM-ERCC5)
ENST00000639118.1:c.363-3281del (BIVM-ERCC5)
ENST00000639132.1:c.763+6034del (BIVM-ERCC5) ENSP00000492684.1:n.763+6034del
ENST00000639435.1:c.1450+6034del (BIVM-ERCC5) ENSP00000491742.1:n.1450+6034del
ENST00000651002.1:c.-430del (ERCC5) ENSP00000498809.1:n.-430del
ENST00000355739.8:c.-430del (ERCC5) ENSP00000347978.4:n.-430del
ENST00000602836.1:c.1364+6034del (BIVM-ERCC5)
NM_001204425.1:c.1450+6034del (BIVM-ERCC5) NP_001191354.1:n.1450+6034del
NM_001204425.2:c.1450+6034del (BIVM-ERCC5) NP_001191354.2:n.1450+6034del
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