Canonical Allele Identifier: CA612077595

Gene: ERCC5 BIVM-ERCC5

Linked Data

• dbSNP Id: rs1242769203
• gnomAD v2: 13-103508460-CAGGTATTT-C
• gnomAD v4: 13-102856110-CAGGTATTT-C
• MyVariant Identifiers: chr13:g.103508461_103508468del (hg19) ; chr13:g.102856111_102856118del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102856113_102856120del , CM000675.2:g.102856113_102856120del	GRCh38
NC_000013.10:g.103508463_103508470del , CM000675.1:g.103508463_103508470del	GRCh37
NC_000013.9:g.102306464_102306471del	NCBI36
NG_007146.1:g.15290_15297del , LRG_464:g.15290_15297del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682632.1:n.769+1_769+8del (ERCC5)
ENST00000682869.1:n.1177+1_1177+8del (ERCC5)
ENST00000683246.1:n.1305+1_1305+8del (ERCC5)
ENST00000684184.1:n.1174+1_1174+8del (ERCC5)
ENST00000639132.1:c.1203+1_1203+8del (BIVM-ERCC5)
ENST00000639435.1:c.1890+1_1890+8del (BIVM-ERCC5)
ENST00000651002.1:c.*289+1_*289+8del (ERCC5)
ENST00000651055.1:n.657+1_657+8del (ERCC5)
ENST00000651281.1:n.896+1_896+8del (ERCC5)
ENST00000651470.1:c.528+1_528+8del (ERCC5)
ENST00000652225.2:c.528+1_528+8del (ERCC5)
ENST00000652613.1:c.24+1_24+8del (ERCC5)
ENST00000355739.8:c.528+1_528+8del (ERCC5)
ENST00000535557.5:c.528+1_528+8del (ERCC5)
ENST00000602836.1:c.1804+1_1804+8del (BIVM-ERCC5)
ENST00000610537.4:c.528+1_528+8del (ERCC5)
NM_000123.3:c.528+1_528+8del , LRG_464t1:c.528+1_528+8del (ERCC5)
NM_001204425.1:c.1890+1_1890+8del (BIVM-ERCC5)
NM_000123.4:c.528+1_528+8del (ERCC5)
NM_001204425.2:c.1890+1_1890+8del (BIVM-ERCC5)