Canonical Allele Identifier: CA612360727

Gene: ERCC5 BIVM-ERCC5

Linked Data

• dbSNP Id: rs1228029741
• gnomAD v2: 13-103527976-AAT-A
• MyVariant Identifiers: chr13:g.103527977_103527978del (hg19) ; chr13:g.102875627_102875628del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102875627_102875628del , CM000675.2:g.102875627_102875628del	GRCh38
NC_000013.10:g.103527977_103527978del , CM000675.1:g.103527977_103527978del	GRCh37
NC_000013.9:g.102325978_102325979del	NCBI36
NG_007146.1:g.34804_34805del , LRG_464:g.34804_34805del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.4386_4387del (ERCC5)
ENST00000682869.1:n.3934_3935del (ERCC5)
ENST00000683246.1:n.4922_4923del (ERCC5)
ENST00000683642.1:n.3515_3516del (ERCC5)
ENST00000639132.1:c.3960_3961del (BIVM-ERCC5)	ENSP00000492684.1:p.Glu1320AspfsTer3
ENST00000639435.1:c.4647_4648del (BIVM-ERCC5)	ENSP00000491742.1:p.Glu1549AspfsTer3
ENST00000651002.1:c.*3046_*3047del (ERCC5)	ENSP00000498809.1:n.*3046_*3047del
ENST00000651055.1:n.3412_3413del (ERCC5)
ENST00000651281.1:n.3653_3654del (ERCC5)
ENST00000651387.1:n.2769_2770del (ERCC5)
ENST00000651470.1:c.*457_*458del (ERCC5)	ENSP00000498701.1:n.*457_*458del
ENST00000652225.2:c.3285_3286del (ERCC5) MANE Select	ENSP00000498881.2:p.Glu1095AspfsTer3
ENST00000652613.1:c.2781_2782del (ERCC5)	ENSP00000498357.1:p.Glu927AspfsTer3
ENST00000355739.8:c.3285_3286del (ERCC5)	ENSP00000347978.4:p.Glu1095AspfsTer3
ENST00000375954.1:c.984_985del (ERCC5)	ENSP00000365121.1:p.Glu328AspfsTer3
ENST00000472247.1:n.445_446del (ERCC5)
ENST00000610537.4:c.3282_3283del (ERCC5)	ENSP00000478667.1:p.Glu1094AspfsTer3
NM_000123.3:c.3285_3286del , LRG_464t1:c.3285_3286del (ERCC5)	NP_000114.2:p.Glu1095AspfsTer3
NM_001204425.1:c.4647_4648del (BIVM-ERCC5)	NP_001191354.1:p.Glu1549AspfsTer3
NM_000123.4:c.3285_3286del (ERCC5) MANE Select	NP_000114.3:p.Glu1095AspfsTer3
NM_001204425.2:c.4647_4648del (BIVM-ERCC5)	NP_001191354.2:p.Glu1549AspfsTer3