Canonical Allele Identifier: CA2573142763
Gene: WRN HGNC NCBI

Linked Data

ClinVar Variation Id: 1504216
ClinVar RCV Id: RCV002026023
dbSNP Id: rs2130530065

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31173020_31173025del , CM000670.2:g.31173020_31173025del GRCh38
NC_000008.10:g.31030536_31030541del , CM000670.1:g.31030536_31030541del GRCh37
NC_000008.9:g.31150078_31150083del NCBI36
NG_008870.1:g.144759_144764del , LRG_524:g.144759_144764del

Transcript Alleles

HGVS Amino-acid change
ENST00000298139.7:c.4217_4222del MANE Select ENSP00000298139.5:p.Arg1406_Leu1407del
ENST00000650667.1:c.*3831_*3836del ENSP00000498593.1:n.*3831_*3836del
ENST00000651946.1:n.441_446del
ENST00000298139.5:c.4217_4222del ENSP00000298139.5:p.Arg1406_Leu1407del
ENST00000521620.5:n.2850_2855del
NM_000553.4:c.4217_4222del , LRG_524t1:c.4217_4222del NP_000544.2:p.Arg1406_Leu1407del
XM_011544639.1:c.4136_4141del XP_011542941.1:p.Arg1379_Leu1380del
XM_011544640.1:c.2618_2623del XP_011542942.1:p.Arg873_Leu874del
XR_949643.1:n.88-1705_88-1700del
XR_949644.1:n.88-1705_88-1700del
XR_949645.1:n.88-1705_88-1700del
XR_949646.1:n.88-1705_88-1700del
XR_949647.1:n.701-1705_701-1700del
XR_949648.1:n.603-1705_603-1700del
NM_000553.5:c.4217_4222del NP_000544.2:p.Arg1406_Leu1407del
XM_011544639.3:c.4136_4141del XP_011542941.1:p.Arg1379_Leu1380del
XM_024447265.1:c.4007_4012del XP_024303033.1:p.Arg1336_Leu1337del
NM_000553.6:c.4217_4222del MANE Select NP_000544.2:p.Arg1406_Leu1407del