Canonical Allele Identifier: CA2573142713

Gene: WRN

Linked Data

• ClinVar Variation Id: 1446727
• ClinVar RCV Id: RCV001996614
• dbSNP Id: rs1554519257

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31067041_31067042delinsTT , CM000670.2:g.31067041_31067042delinsTT	GRCh38
NC_000008.10:g.30924557_30924558delinsTT , CM000670.1:g.30924557_30924558delinsTT	GRCh37
NC_000008.9:g.31044099_31044100delinsTT	NCBI36
NG_008870.1:g.38780_38781delinsTT , LRG_524:g.38780_38781delinsTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000298139.7:c.513_514delinsTT MANE Select	ENSP00000298139.5:p.Thr172Ser
ENST00000650667.1:c.*127_*128delinsTT	ENSP00000498593.1:n.*127_*128delinsTT
ENST00000298139.5:c.513_514delinsTT	ENSP00000298139.5:p.Thr172Ser
NM_000553.4:c.513_514delinsTT , LRG_524t1:c.513_514delinsTT	NP_000544.2:p.Thr172Ser
XM_011544639.1:c.513_514delinsTT	XP_011542941.1:p.Thr172Ser
XR_949470.1:n.786_787delinsTT
XR_949471.1:n.786_787delinsTT
XR_949472.1:n.786_787delinsTT
NM_000553.5:c.513_514delinsTT	NP_000544.2:p.Thr172Ser
XM_011544639.3:c.513_514delinsTT	XP_011542941.1:p.Thr172Ser
XM_024447265.1:c.303_304delinsTT	XP_024303033.1:p.Thr102Ser
XR_949470.3:n.814_815delinsTT
XR_949471.3:n.814_815delinsTT
XR_949472.3:n.814_815delinsTT
NM_000553.6:c.513_514delinsTT MANE Select	NP_000544.2:p.Thr172Ser