Canonical Allele Identifier: CA658657759
Gene: WRN HGNC NCBI
ClinVar RCV:
ClinVar Variation:

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31076282_31076283delinsTT , CM000670.2:g.31076282_31076283delinsTT GRCh38
NC_000008.10:g.30933798_30933799delinsTT , CM000670.1:g.30933798_30933799delinsTT GRCh37
NC_000008.9:g.31053340_31053341delinsTT NCBI36
NG_008870.1:g.48021_48022delinsTT , LRG_524:g.48021_48022delinsTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000298139.7:c.834_835delinsTT MANE Select ENSP00000298139.5:p.Arg279Trp
ENST00000650667.1:c.*448_*449delinsTT ENSP00000498593.1:n.*448_*449delinsTT
ENST00000651642.1:c.129_130delinsTT ENSP00000498779.1:p.Arg44Trp
ENST00000298139.5:c.834_835delinsTT ENSP00000298139.5:p.Arg279Trp
NM_000553.4:c.834_835delinsTT , LRG_524t1:c.834_835delinsTT NP_000544.2:p.Arg279Trp
XM_011544639.1:c.834_835delinsTT XP_011542941.1:p.Arg279Trp
XR_949470.1:n.1107_1108delinsTT
XR_949471.1:n.1107_1108delinsTT
XR_949472.1:n.1107_1108delinsTT
NM_000553.5:c.834_835delinsTT NP_000544.2:p.Arg279Trp
XM_011544639.3:c.834_835delinsTT XP_011542941.1:p.Arg279Trp
XM_024447265.1:c.624_625delinsTT XP_024303033.1:p.Arg209Trp
XR_949470.3:n.1135_1136delinsTT
XR_949471.3:n.1135_1136delinsTT
XR_949472.3:n.1135_1136delinsTT
NM_000553.6:c.834_835delinsTT MANE Select NP_000544.2:p.Arg279Trp