Canonical Allele Identifier: CA343151
Gene: WRN HGNC NCBI

Linked Data

ClinVar Variation Id: 38890
ClinVar RCV Id: RCV000032139
dbSNP Id: rs281865160
gnomAD v3: 8-31150354-GA-G
gnomAD v4: 8-31150354-GA-G
MyVariant Identifiers: chr8:g.31007874del (hg19) chr8:g.31007871del (hg19) chr8:g.31150358del (hg38) chr8:g.31150355del (hg38)
PubMed: PMID:20301687 PMID:20443122
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31150358del , CM000670.2:g.31150358del GRCh38
NC_000008.10:g.31007874del , CM000670.1:g.31007874del GRCh37
NC_000008.9:g.31127416del NCBI36
NG_008870.1:g.122097del , LRG_524:g.122097del

Transcript Alleles

HGVS Amino-acid Change
ENST00000298139.7:c.3590del MANE Select ENSP00000298139.5:p.Asn1197ThrfsTer2
ENST00000650667.1:c.*3204del ENSP00000498593.1:n.*3204del
ENST00000298139.5:c.3590del ENSP00000298139.5:p.Asn1197ThrfsTer2
ENST00000521620.5:n.2223del
NM_000553.4:c.3590del , LRG_524t1:c.3590del NP_000544.2:p.Asn1197ThrfsTer2
XM_011544639.1:c.3509del XP_011542941.1:p.Asn1170ThrfsTer2
XM_011544640.1:c.1991del XP_011542942.1:p.Asn664ThrfsTer2
XR_949470.1:n.3863del
XR_949471.1:n.3863del
XR_949472.1:n.3863del
XR_949643.1:n.457-1690del
XR_949644.1:n.381-1690del
XR_949647.1:n.1070-1690del
XR_949648.1:n.972-1690del
NM_000553.5:c.3590del NP_000544.2:p.Asn1197ThrfsTer2
XM_011544639.3:c.3509del XP_011542941.1:p.Asn1170ThrfsTer2
XM_024447265.1:c.3380del XP_024303033.1:p.Asn1127ThrfsTer2
XR_949470.3:n.3891del
XR_949471.3:n.3891del
XR_949472.3:n.3891del
NM_000553.6:c.3590del MANE Select NP_000544.2:p.Asn1197ThrfsTer2
Search 100 bp 5'
Search 100 bp 3'