Canonical Allele Identifier: CA580993599
Gene: WRN HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000298139.7:c.15dup MANE Select ENSP00000298139.5:p.Leu6IlefsTer12
ENST00000650667.1:c.15dup ENSP00000498593.1:p.Leu6IlefsTer12
ENST00000298139.5:c.15dup ENSP00000298139.5:p.Leu6IlefsTer12
NM_000553.4:c.15dup , LRG_524t1:c.15dup NP_000544.2:p.Leu6IlefsTer12
XM_011544639.1:c.15dup XP_011542941.1:p.Leu6IlefsTer12
XR_949470.1:n.288dup
XR_949471.1:n.288dup
XR_949472.1:n.288dup
NM_000553.5:c.15dup NP_000544.2:p.Leu6IlefsTer12
XM_011544639.3:c.15dup XP_011542941.1:p.Leu6IlefsTer12
XM_024447265.1:c.-320dup XP_024303033.1:n.-320dup
XR_949470.3:n.316dup
XR_949471.3:n.316dup
XR_949472.3:n.316dup
NM_000553.6:c.15dup MANE Select NP_000544.2:p.Leu6IlefsTer12