Canonical Allele Identifier: CA2115208052

Gene: ERCC5 BIVM-ERCC5

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102856154_102856157delinsTGAA , CM000675.2:g.102856154_102856157delinsTGAA	GRCh38
NC_000013.10:g.103508504_103508507delinsTGAA , CM000675.1:g.103508504_103508507delinsTGAA	GRCh37
NC_000013.9:g.102306505_102306508delinsTGAA	NCBI36
NG_007146.1:g.15331_15334delinsTGAA , LRG_464:g.15331_15334delinsTGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.769+42_769+45delinsTGAA (ERCC5)
ENST00000682869.1:n.1177+42_1177+45delinsTGAA (ERCC5)
ENST00000683246.1:n.1305+42_1305+45delinsTGAA (ERCC5)
ENST00000684184.1:n.1174+42_1174+45delinsTGAA (ERCC5)
ENST00000639132.1:c.1203+42_1203+45delinsTGAA (BIVM-ERCC5)	ENSP00000492684.1:n.1203+42_1203+45delinsTGAA
ENST00000639435.1:c.1890+42_1890+45delinsTGAA (BIVM-ERCC5)	ENSP00000491742.1:n.1890+42_1890+45delinsTGAA
ENST00000651002.1:c.*289+42_*289+45delinsTGAA (ERCC5)	ENSP00000498809.1:n.*289+42_*289+45delinsTGAA
ENST00000651055.1:n.657+42_657+45delinsTGAA (ERCC5)
ENST00000651281.1:n.896+42_896+45delinsTGAA (ERCC5)
ENST00000651470.1:c.528+42_528+45delinsTGAA (ERCC5)	ENSP00000498701.1:n.528+42_528+45delinsTGAA
ENST00000652225.2:c.528+42_528+45delinsTGAA (ERCC5) MANE Select	ENSP00000498881.2:n.528+42_528+45delinsTGAA
ENST00000652613.1:c.24+42_24+45delinsTGAA (ERCC5)	ENSP00000498357.1:n.24+42_24+45delinsTGAA
ENST00000355739.8:c.528+42_528+45delinsTGAA (ERCC5)	ENSP00000347978.4:n.528+42_528+45delinsTGAA
ENST00000535557.5:c.528+42_528+45delinsTGAA (ERCC5)	ENSP00000442117.1:n.528+42_528+45delinsTGAA
ENST00000602836.1:c.1804+42_1804+45delinsTGAA (BIVM-ERCC5)
ENST00000610537.4:c.528+42_528+45delinsTGAA (ERCC5)	ENSP00000478667.1:n.528+42_528+45delinsTGAA
NM_000123.3:c.528+42_528+45delinsTGAA , LRG_464t1:c.528+42_528+45delinsTGAA (ERCC5)	NP_000114.2:n.528+42_528+45delinsTGAA
NM_001204425.1:c.1890+42_1890+45delinsTGAA (BIVM-ERCC5)	NP_001191354.1:n.1890+42_1890+45delinsTGAA
NM_000123.4:c.528+42_528+45delinsTGAA (ERCC5) MANE Select	NP_000114.3:n.528+42_528+45delinsTGAA
NM_001204425.2:c.1890+42_1890+45delinsTGAA (BIVM-ERCC5)	NP_001191354.2:n.1890+42_1890+45delinsTGAA