Canonical Allele Identifier: CA694378142

Gene: ERCC5 BIVM-ERCC5

Linked Data

• dbSNP Id: rs1555325701
• gnomAD v3: 13-102856297-G-GTGTA
• gnomAD v4: 13-102856297-G-GTGTA
• MyVariant Identifiers: chr13:g.103508647_103508648insTGTA (hg19) ; chr13:g.102856297_102856298insTGTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102856298_102856299insGTAT , CM000675.2:g.102856298_102856299insGTAT	GRCh38
NC_000013.10:g.103508648_103508649insGTAT , CM000675.1:g.103508648_103508649insGTAT	GRCh37
NC_000013.9:g.102306649_102306650insGTAT	NCBI36
NG_007146.1:g.15475_15476insGTAT , LRG_464:g.15475_15476insGTAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.769+186_769+187insGTAT (ERCC5)
ENST00000682869.1:n.1177+186_1177+187insGTAT (ERCC5)
ENST00000683246.1:n.1305+186_1305+187insGTAT (ERCC5)
ENST00000684184.1:n.1174+186_1174+187insGTAT (ERCC5)
ENST00000639132.1:c.1203+186_1203+187insGTAT (BIVM-ERCC5)	ENSP00000492684.1:n.1203+186_1203+187insGTAT
ENST00000639435.1:c.1890+186_1890+187insGTAT (BIVM-ERCC5)	ENSP00000491742.1:n.1890+186_1890+187insGTAT
ENST00000651002.1:c.*289+186_*289+187insGTAT (ERCC5)	ENSP00000498809.1:n.*289+186_*289+187insGTAT
ENST00000651055.1:n.657+186_657+187insGTAT (ERCC5)
ENST00000651281.1:n.896+186_896+187insGTAT (ERCC5)
ENST00000651470.1:c.528+186_528+187insGTAT (ERCC5)	ENSP00000498701.1:n.528+186_528+187insGTAT
ENST00000652225.2:c.528+186_528+187insGTAT (ERCC5) MANE Select	ENSP00000498881.2:n.528+186_528+187insGTAT
ENST00000652613.1:c.24+186_24+187insGTAT (ERCC5)	ENSP00000498357.1:n.24+186_24+187insGTAT
ENST00000355739.8:c.528+186_528+187insGTAT (ERCC5)	ENSP00000347978.4:n.528+186_528+187insGTAT
ENST00000535557.5:c.528+186_528+187insGTAT (ERCC5)	ENSP00000442117.1:n.528+186_528+187insGTAT
ENST00000602836.1:c.1804+186_1804+187insGTAT (BIVM-ERCC5)
ENST00000610537.4:c.528+186_528+187insGTAT (ERCC5)	ENSP00000478667.1:n.528+186_528+187insGTAT
NM_000123.3:c.528+186_528+187insGTAT , LRG_464t1:c.528+186_528+187insGTAT (ERCC5)	NP_000114.2:n.528+186_528+187insGTAT
NM_001204425.1:c.1890+186_1890+187insGTAT (BIVM-ERCC5)	NP_001191354.1:n.1890+186_1890+187insGTAT
NM_000123.4:c.528+186_528+187insGTAT (ERCC5) MANE Select	NP_000114.3:n.528+186_528+187insGTAT
NM_001204425.2:c.1890+186_1890+187insGTAT (BIVM-ERCC5)	NP_001191354.2:n.1890+186_1890+187insGTAT