Canonical Allele Identifier: CA1139660426

Gene: WRN

Linked Data

• ClinVar Variation Id: 952082
• ClinVar RCV Id: RCV001224126
• dbSNP Id: rs1812741645

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31067176dup , CM000670.2:g.31067176dup	GRCh38
NC_000008.10:g.30924692dup , CM000670.1:g.30924692dup	GRCh37
NC_000008.9:g.31044234dup	NCBI36
NG_008870.1:g.38915dup , LRG_524:g.38915dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.648dup MANE Select	ENSP00000298139.5:p.Ala217CysfsTer16
ENST00000650667.1:c.*262dup	ENSP00000498593.1:n.*262dup
ENST00000298139.5:c.648dup	ENSP00000298139.5:p.Ala217CysfsTer16
NM_000553.4:c.648dup , LRG_524t1:c.648dup	NP_000544.2:p.Ala217CysfsTer16
XM_011544639.1:c.648dup	XP_011542941.1:p.Ala217CysfsTer16
XR_949470.1:n.921dup
XR_949471.1:n.921dup
XR_949472.1:n.921dup
NM_000553.5:c.648dup	NP_000544.2:p.Ala217CysfsTer16
XM_011544639.3:c.648dup	XP_011542941.1:p.Ala217CysfsTer16
XM_024447265.1:c.438dup	XP_024303033.1:p.Ala147CysfsTer16
XR_949470.3:n.949dup
XR_949471.3:n.949dup
XR_949472.3:n.949dup
NM_000553.6:c.648dup MANE Select	NP_000544.2:p.Ala217CysfsTer16