Canonical Allele Identifier: CA4704259
Gene: WRN HGNC NCBI
gnomAD v2:
8:30938705 GA / G
gnomAD v3:
8:31081189 GA / G
gnomAD v4:
chr8-31081189-GA-G
Joint Max Group AF 0.00011839 (SAS)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.0001155 (SAS)
ClinVar RCV:
RCV000232269
RCV000999016
ClinVar Variation:
238117
dbSNP:
878854131
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31081192del , CM000670.2:g.31081192del GRCh38
NC_000008.10:g.30938708del , CM000670.1:g.30938708del GRCh37
NC_000008.9:g.31058250del NCBI36
NG_008870.1:g.52931del , LRG_524:g.52931del

Transcript Alleles

HGVS Amino-acid Change
ENST00000298139.7:c.1165del MANE Select ENSP00000298139.5:p.Arg389GlufsTer4
ENST00000650667.1:c.*779del ENSP00000498593.1:n.*779del
ENST00000651642.1:c.460del ENSP00000498779.1:p.Arg154GlufsTer4
ENST00000298139.5:c.1165del ENSP00000298139.5:p.Arg389GlufsTer4
NM_000553.4:c.1165del , LRG_524t1:c.1165del NP_000544.2:p.Arg389GlufsTer4
XM_011544639.1:c.1165del XP_011542941.1:p.Arg389GlufsTer4
XR_949470.1:n.1438del
XR_949471.1:n.1438del
XR_949472.1:n.1438del
NM_000553.5:c.1165del NP_000544.2:p.Arg389GlufsTer4
XM_011544639.3:c.1165del XP_011542941.1:p.Arg389GlufsTer4
XM_024447265.1:c.955del XP_024303033.1:p.Arg319GlufsTer4
XR_949470.3:n.1466del
XR_949471.3:n.1466del
XR_949472.3:n.1466del
NM_000553.6:c.1165del MANE Select NP_000544.2:p.Arg389GlufsTer4
Search 100 bp 5'
Search 100 bp 3'