Canonical Allele Identifier: CA2686835088

Gene: WRN

Linked Data

• gnomAD v4: 8-31067045-GAGACC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31067046_31067050del , CM000670.2:g.31067046_31067050del	GRCh38
NC_000008.10:g.30924562_30924566del , CM000670.1:g.30924562_30924566del	GRCh37
NC_000008.9:g.31044104_31044108del	NCBI36
NG_008870.1:g.38785_38789del , LRG_524:g.38785_38789del

Transcript Alleles

HGVS	Amino-acid change
ENST00000298139.7:c.518_522del MANE Select	ENSP00000298139.5:p.Glu173ValfsTer4
ENST00000650667.1:c.*132_*136del	ENSP00000498593.1:n.*132_*136del
ENST00000298139.5:c.518_522del	ENSP00000298139.5:p.Glu173ValfsTer4
NM_000553.4:c.518_522del , LRG_524t1:c.518_522del	NP_000544.2:p.Glu173ValfsTer4
XM_011544639.1:c.518_522del	XP_011542941.1:p.Glu173ValfsTer4
XR_949470.1:n.791_795del
XR_949471.1:n.791_795del
XR_949472.1:n.791_795del
NM_000553.5:c.518_522del	NP_000544.2:p.Glu173ValfsTer4
XM_011544639.3:c.518_522del	XP_011542941.1:p.Glu173ValfsTer4
XM_024447265.1:c.308_312del	XP_024303033.1:p.Glu103ValfsTer4
XR_949470.3:n.819_823del
XR_949471.3:n.819_823del
XR_949472.3:n.819_823del
NM_000553.6:c.518_522del MANE Select	NP_000544.2:p.Glu173ValfsTer4