Canonical Allele Identifier: CA2580614323

Gene: WRN

Linked Data

• ClinVar Variation Id: 1054772
• ClinVar RCV Id: RCV001363340
• dbSNP Id: rs2130056327
• gnomAD v4: 8-31068264-TTTA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31068270_31068272del , CM000670.2:g.31068270_31068272del	GRCh38
NC_000008.10:g.30925786_30925788del , CM000670.1:g.30925786_30925788del	GRCh37
NC_000008.9:g.31045328_31045330del	NCBI36
NG_008870.1:g.40009_40011del , LRG_524:g.40009_40011del

Transcript Alleles

HGVS	Amino-acid change
ENST00000298139.7:c.667_669del MANE Select	ENSP00000298139.5:p.Ile223del
ENST00000650667.1:c.*281_*283del	ENSP00000498593.1:n.*281_*283del
ENST00000298139.5:c.667_669del	ENSP00000298139.5:p.Ile223del
NM_000553.4:c.667_669del , LRG_524t1:c.667_669del	NP_000544.2:p.Ile223del
XM_011544639.1:c.667_669del	XP_011542941.1:p.Ile223del
XR_949470.1:n.940_942del
XR_949471.1:n.940_942del
XR_949472.1:n.940_942del
NM_000553.5:c.667_669del	NP_000544.2:p.Ile223del
XM_011544639.3:c.667_669del	XP_011542941.1:p.Ile223del
XM_024447265.1:c.457_459del	XP_024303033.1:p.Ile153del
XR_949470.3:n.968_970del
XR_949471.3:n.968_970del
XR_949472.3:n.968_970del
NM_000553.6:c.667_669del MANE Select	NP_000544.2:p.Ile223del