Canonical Allele Identifier: CA2115208028

Gene: ERCC5 BIVM-ERCC5

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102856110_102856118delinsCAGGTATTT , CM000675.2:g.102856110_102856118delinsCAGGTATTT	GRCh38
NC_000013.10:g.103508460_103508468delinsCAGGTATTT , CM000675.1:g.103508460_103508468delinsCAGGTATTT	GRCh37
NC_000013.9:g.102306461_102306469delinsCAGGTATTT	NCBI36
NG_007146.1:g.15287_15295delinsCAGGTATTT , LRG_464:g.15287_15295delinsCAGGTATTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.767_769+6delinsCAGGTATTT (ERCC5)
ENST00000682869.1:n.1175_1177+6delinsCAGGTATTT (ERCC5)
ENST00000683246.1:n.1303_1305+6delinsCAGGTATTT (ERCC5)
ENST00000684184.1:n.1172_1174+6delinsCAGGTATTT (ERCC5)
ENST00000639132.1:c.1201_1203+6delinsCAGGTATTT (BIVM-ERCC5)
ENST00000639435.1:c.1888_1890+6delinsCAGGTATTT (BIVM-ERCC5)
ENST00000651002.1:c.*287_*289+6delinsCAGGTATTT (ERCC5)
ENST00000651055.1:n.655_657+6delinsCAGGTATTT (ERCC5)
ENST00000651281.1:n.894_896+6delinsCAGGTATTT (ERCC5)
ENST00000651470.1:c.526_528+6delinsCAGGTATTT (ERCC5)
ENST00000652225.2:c.526_528+6delinsCAGGTATTT (ERCC5)
ENST00000652613.1:c.22_24+6delinsCAGGTATTT (ERCC5)
ENST00000355739.8:c.526_528+6delinsCAGGTATTT (ERCC5)
ENST00000535557.5:c.526_528+6delinsCAGGTATTT (ERCC5)
ENST00000602836.1:c.1802_1804+6delinsCAGGTATTT (BIVM-ERCC5)
ENST00000610537.4:c.526_528+6delinsCAGGTATTT (ERCC5)
NM_000123.3:c.526_528+6delinsCAGGTATTT , LRG_464t1:c.526_528+6delinsCAGGTATTT (ERCC5)
NM_001204425.1:c.1888_1890+6delinsCAGGTATTT (BIVM-ERCC5)
NM_000123.4:c.526_528+6delinsCAGGTATTT (ERCC5)
NM_001204425.2:c.1888_1890+6delinsCAGGTATTT (BIVM-ERCC5)