Canonical Allele Identifier: CA4703954
Gene: WRN HGNC NCBI
gnomAD v2:
8:30915970 GA / G
gnomAD v3:
8:31058454 GA / G
gnomAD v4:
chr8-31058454-GA-G
Joint Max Group AF 0.00001065 (AFR)
Genomes Max Group AF 0.00000801 (AFR)
Exomes Max Group AF 7.2e-7 (NFE)
ClinVar RCV:
RCV000233160
ClinVar Variation:
238124
dbSNP:
878854133
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31058462del , CM000670.2:g.31058462del GRCh38
NC_000008.10:g.30915978del , CM000670.1:g.30915978del GRCh37
NC_000008.9:g.31035520del NCBI36
NG_008870.1:g.30201del , LRG_524:g.30201del

Transcript Alleles

HGVS Amino-acid Change
ENST00000298139.7:c.15del MANE Select ENSP00000298139.5:p.Lys5AsnfsTer15
ENST00000650667.1:c.15del ENSP00000498593.1:p.Lys5AsnfsTer15
ENST00000298139.5:c.15del ENSP00000298139.5:p.Lys5AsnfsTer15
NM_000553.4:c.15del , LRG_524t1:c.15del NP_000544.2:p.Lys5AsnfsTer15
XM_011544639.1:c.15del XP_011542941.1:p.Lys5AsnfsTer15
XR_949470.1:n.288del
XR_949471.1:n.288del
XR_949472.1:n.288del
NM_000553.5:c.15del NP_000544.2:p.Lys5AsnfsTer15
XM_011544639.3:c.15del XP_011542941.1:p.Lys5AsnfsTer15
XM_024447265.1:c.-320del XP_024303033.1:n.-320del
XR_949470.3:n.316del
XR_949471.3:n.316del
XR_949472.3:n.316del
NM_000553.6:c.15del MANE Select NP_000544.2:p.Lys5AsnfsTer15
Search 100 bp 5'
Search 100 bp 3'