Canonical Allele Identifier: CA694374590
Gene: BIVM-ERCC5 HGNC NCBI
ERCC5 HGNC NCBI

Linked Data

dbSNP Id: rs1242809730
gnomAD v3: 13-102845698-ACGGAAG-A
gnomAD v4: 13-102845698-ACGGAAG-A
MyVariant Identifiers: chr13:g.103498049_103498054del (hg19) chr13:g.102845699_102845704del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.102845700_102845705del , CM000675.2:g.102845700_102845705del GRCh38
NC_000013.10:g.103498050_103498055del , CM000675.1:g.103498050_103498055del GRCh37
NC_000013.9:g.102296051_102296056del NCBI36
NG_007146.1:g.4877_4882del , LRG_464:g.4877_4882del

Transcript Alleles

HGVS Amino-acid Change
ENST00000638434.1:c.363-8057_363-8052del (BIVM-ERCC5)
ENST00000639118.1:c.363-3418_363-3413del (BIVM-ERCC5)
ENST00000639132.1:c.763+5897_763+5902del (BIVM-ERCC5) ENSP00000492684.1:n.763+5897_763+5902del
ENST00000639435.1:c.1450+5897_1450+5902del (BIVM-ERCC5) ENSP00000491742.1:n.1450+5897_1450+5902del
ENST00000355739.8:c.-567_-562del (ERCC5) ENSP00000347978.4:n.-567_-562del
ENST00000602836.1:c.1364+5897_1364+5902del (BIVM-ERCC5)
NM_001204425.1:c.1450+5897_1450+5902del (BIVM-ERCC5) NP_001191354.1:n.1450+5897_1450+5902del
NM_001204425.2:c.1450+5897_1450+5902del (BIVM-ERCC5) NP_001191354.2:n.1450+5897_1450+5902del
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