Canonical Allele Identifier: CA658657758
Gene: WRN HGNC NCBI
ClinVar RCV:
ClinVar Variation:

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31067041_31067042delinsTC , CM000670.2:g.31067041_31067042delinsTC GRCh38
NC_000008.10:g.30924557_30924558delinsTC , CM000670.1:g.30924557_30924558delinsTC GRCh37
NC_000008.9:g.31044099_31044100delinsTC NCBI36
NG_008870.1:g.38780_38781delinsTC , LRG_524:g.38780_38781delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000298139.7:c.513_514delinsTC MANE Select ENSP00000298139.5:p.Thr172Pro
ENST00000650667.1:c.*127_*128delinsTC ENSP00000498593.1:n.*127_*128delinsTC
ENST00000298139.5:c.513_514delinsTC ENSP00000298139.5:p.Thr172Pro
NM_000553.4:c.513_514delinsTC , LRG_524t1:c.513_514delinsTC NP_000544.2:p.Thr172Pro
XM_011544639.1:c.513_514delinsTC XP_011542941.1:p.Thr172Pro
XR_949470.1:n.786_787delinsTC
XR_949471.1:n.786_787delinsTC
XR_949472.1:n.786_787delinsTC
NM_000553.5:c.513_514delinsTC NP_000544.2:p.Thr172Pro
XM_011544639.3:c.513_514delinsTC XP_011542941.1:p.Thr172Pro
XM_024447265.1:c.303_304delinsTC XP_024303033.1:p.Thr102Pro
XR_949470.3:n.814_815delinsTC
XR_949471.3:n.814_815delinsTC
XR_949472.3:n.814_815delinsTC
NM_000553.6:c.513_514delinsTC MANE Select NP_000544.2:p.Thr172Pro