Canonical Allele Identifier: CA2697549824

Gene: WRN

Linked Data

• ClinVar Variation Id: 2732741
• ClinVar RCV Id: RCV003506485

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31068272_31068296del , CM000670.2:g.31068272_31068296del	GRCh38
NC_000008.10:g.30925788_30925812del , CM000670.1:g.30925788_30925812del	GRCh37
NC_000008.9:g.31045330_31045354del	NCBI36
NG_008870.1:g.40011_40035del , LRG_524:g.40011_40035del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.669_693del MANE Select	ENSP00000298139.5:p.Ile223MetfsTer9
ENST00000650667.1:c.*283_*307del	ENSP00000498593.1:n.*283_*307del
ENST00000298139.5:c.669_693del	ENSP00000298139.5:p.Ile223MetfsTer9
NM_000553.4:c.669_693del , LRG_524t1:c.669_693del	NP_000544.2:p.Ile223MetfsTer9
XM_011544639.1:c.669_693del	XP_011542941.1:p.Ile223MetfsTer9
XR_949470.1:n.942_966del
XR_949471.1:n.942_966del
XR_949472.1:n.942_966del
NM_000553.5:c.669_693del	NP_000544.2:p.Ile223MetfsTer9
XM_011544639.3:c.669_693del	XP_011542941.1:p.Ile223MetfsTer9
XM_024447265.1:c.459_483del	XP_024303033.1:p.Ile153MetfsTer9
XR_949470.3:n.970_994del
XR_949471.3:n.970_994del
XR_949472.3:n.970_994del
NM_000553.6:c.669_693del MANE Select	NP_000544.2:p.Ile223MetfsTer9