Canonical Allele Identifier: CA253489
Gene: WRN HGNC NCBI

Linked Data

ClinVar Variation Id: 5448
ClinVar RCV Id: RCV000005781
dbSNP Id: rs587776621
MyVariant Identifiers: chr8:g.31014979dupA (hg19) chr8:g.31157463dupA (hg38)
PubMed: PMID:9048918
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31157463dup , CM000670.2:g.31157463dup GRCh38
NC_000008.10:g.31014979dup , CM000670.1:g.31014979dup GRCh37
NC_000008.9:g.31134521dup NCBI36
NG_008870.1:g.129202dup , LRG_524:g.129202dup

Transcript Alleles

HGVS Amino-acid change
ENST00000298139.7:c.3915dup MANE Select ENSP00000298139.5:p.Ala1306SerfsTer13
ENST00000650667.1:c.*3529dup ENSP00000498593.1:n.*3529dup
ENST00000298139.5:c.3915dup ENSP00000298139.5:p.Ala1306SerfsTer13
ENST00000521620.5:n.2548dup
NM_000553.4:c.3915dup , LRG_524t1:c.3915dup NP_000544.2:p.Ala1306SerfsTer13
XM_011544639.1:c.3834dup XP_011542941.1:p.Ala1279SerfsTer13
XM_011544640.1:c.2316dup XP_011542942.1:p.Ala773SerfsTer13
XR_949470.1:n.4188dup
XR_949471.1:n.4188dup
XR_949472.1:n.4188dup
XR_949643.1:n.457-8798dup
XR_949644.1:n.381-8798dup
XR_949647.1:n.1070-8798dup
XR_949648.1:n.972-8798dup
NM_000553.5:c.3915dup NP_000544.2:p.Ala1306SerfsTer13
XM_011544639.3:c.3834dup XP_011542941.1:p.Ala1279SerfsTer13
XM_024447265.1:c.3705dup XP_024303033.1:p.Ala1236SerfsTer13
XR_949470.3:n.4216dup
XR_949471.3:n.4216dup
XR_949472.3:n.4216dup
NM_000553.6:c.3915dup MANE Select NP_000544.2:p.Ala1306SerfsTer13
Search 100 bp 5'
Search 100 bp 3'