Canonical Allele Identifier: CA255220087

Gene: ERCC5 BIVM-ERCC5

Linked Data

• dbSNP Id: rs36034203
• MyVariant Identifiers: chr13:g.103508434_103508435insC (hg19) ; chr13:g.102856084_102856085insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102856084_102856085insC , CM000675.2:g.102856084_102856085insC	GRCh38
NC_000013.10:g.103508434_103508435insC , CM000675.1:g.103508434_103508435insC	GRCh37
NC_000013.9:g.102306435_102306436insC	NCBI36
NG_007146.1:g.15261_15262insC , LRG_464:g.15261_15262insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.741_742insC (ERCC5)
ENST00000682869.1:n.1149_1150insC (ERCC5)
ENST00000683246.1:n.1277_1278insC (ERCC5)
ENST00000684184.1:n.1146_1147insC (ERCC5)
ENST00000638434.1:c.598_599insC (BIVM-ERCC5)
ENST00000639132.1:c.1175_1176insC (BIVM-ERCC5)	ENSP00000492684.1:p.Glu392AspfsTer16
ENST00000639435.1:c.1862_1863insC (BIVM-ERCC5)	ENSP00000491742.1:p.Glu621AspfsTer16
ENST00000651002.1:c.*261_*262insC (ERCC5)	ENSP00000498809.1:n.*261_*262insC
ENST00000651055.1:n.629_630insC (ERCC5)
ENST00000651281.1:n.868_869insC (ERCC5)
ENST00000651470.1:c.500_501insC (ERCC5)	ENSP00000498701.1:p.Glu167AspfsTer16
ENST00000652225.2:c.500_501insC (ERCC5) MANE Select	ENSP00000498881.2:p.Glu167AspfsTer16
ENST00000652613.1:c.-5_-4insC (ERCC5)	ENSP00000498357.1:n.-5_-4insC
ENST00000355739.8:c.500_501insC (ERCC5)	ENSP00000347978.4:p.Glu167AspfsTer16
ENST00000535557.5:c.500_501insC (ERCC5)	ENSP00000442117.1:p.Glu167AspfsTer16
ENST00000602836.1:c.1776_1777insC (BIVM-ERCC5)
ENST00000610537.4:c.500_501insC (ERCC5)	ENSP00000478667.1:p.Glu167AspfsTer16
NM_000123.3:c.500_501insC , LRG_464t1:c.500_501insC (ERCC5)	NP_000114.2:p.Glu167AspfsTer16
NM_001204425.1:c.1862_1863insC (BIVM-ERCC5)	NP_001191354.1:p.Glu621AspfsTer16
NM_000123.4:c.500_501insC (ERCC5) MANE Select	NP_000114.3:p.Glu167AspfsTer16
NM_001204425.2:c.1862_1863insC (BIVM-ERCC5)	NP_001191354.2:p.Glu621AspfsTer16