Canonical Allele Identifier: CA2579138065
Gene: WRN HGNC NCBI

Linked Data

ClinVar Variation Id: 2679611
ClinVar RCV Id: RCV003466551

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31147415del , CM000670.2:g.31147415del GRCh38
NC_000008.10:g.31004931del , CM000670.1:g.31004931del GRCh37
NC_000008.9:g.31124473del NCBI36
NG_008870.1:g.119154del , LRG_524:g.119154del

Transcript Alleles

HGVS Amino-acid Change
ENST00000298139.7:c.3511del MANE Select ENSP00000298139.5:p.Met1171TrpfsTer20
ENST00000650667.1:c.*3125del ENSP00000498593.1:n.*3125del
ENST00000298139.5:c.3511del ENSP00000298139.5:p.Met1171TrpfsTer20
ENST00000521620.5:n.2144del
NM_000553.4:c.3511del , LRG_524t1:c.3511del NP_000544.2:p.Met1171TrpfsTer20
XM_011544639.1:c.3430del XP_011542941.1:p.Met1144TrpfsTer20
XM_011544640.1:c.1912del XP_011542942.1:p.Met638TrpfsTer20
XR_949470.1:n.3784del
XR_949471.1:n.3784del
XR_949472.1:n.3784del
XR_949643.1:n.614+1096del
NM_000553.5:c.3511del NP_000544.2:p.Met1171TrpfsTer20
XM_011544639.3:c.3430del XP_011542941.1:p.Met1144TrpfsTer20
XM_024447265.1:c.3301del XP_024303033.1:p.Met1101TrpfsTer20
XR_949470.3:n.3812del
XR_949471.3:n.3812del
XR_949472.3:n.3812del
NM_000553.6:c.3511del MANE Select NP_000544.2:p.Met1171TrpfsTer20