Canonical Allele Identifier: CA343149

Gene: WRN

Linked Data

• ClinVar Variation Id: 38887
• ClinVar RCV Id: RCV000032136
• dbSNP Id: rs281865158
• MyVariant Identifiers: chr8:g.30969221dupT (hg19) ; chr8:g.31111705dupT (hg38)
• PubMed: PMID:16673358 ; PMID:20301687 ; PMID:20443122

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31111705dup , CM000670.2:g.31111705dup	GRCh38
NC_000008.10:g.30969221dup , CM000670.1:g.30969221dup	GRCh37
NC_000008.9:g.31088763dup	NCBI36
NG_008870.1:g.83444dup , LRG_524:g.83444dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000298139.7:c.2179dup MANE Select	ENSP00000298139.5:p.Cys727LeufsTer5
ENST00000650667.1:c.*1793dup	ENSP00000498593.1:n.*1793dup
ENST00000298139.5:c.2179dup	ENSP00000298139.5:p.Cys727LeufsTer5
ENST00000521620.5:n.812dup
NM_000553.4:c.2179dup , LRG_524t1:c.2179dup	NP_000544.2:p.Cys727LeufsTer5
XM_011544639.1:c.2098dup	XP_011542941.1:p.Cys700LeufsTer5
XM_011544640.1:c.580dup	XP_011542942.1:p.Cys194LeufsTer5
XR_949470.1:n.2452dup
XR_949471.1:n.2452dup
XR_949472.1:n.2452dup
NM_000553.5:c.2179dup	NP_000544.2:p.Cys727LeufsTer5
XM_011544639.3:c.2098dup	XP_011542941.1:p.Cys700LeufsTer5
XM_024447265.1:c.1969dup	XP_024303033.1:p.Cys657LeufsTer5
XR_949470.3:n.2480dup
XR_949471.3:n.2480dup
XR_949472.3:n.2480dup
NM_000553.6:c.2179dup MANE Select	NP_000544.2:p.Cys727LeufsTer5