Canonical Allele Identifier: CA913189779

Gene: WRN

Linked Data

• ClinVar Variation Id: 632026
• ClinVar RCV Id: RCV000778859 ; RCV003311886
• dbSNP Id: rs1563376595
• gnomAD v3: 8-31141591-T-TA
• gnomAD v4: 8-31141591-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31141592dup , CM000670.2:g.31141592dup	GRCh38
NC_000008.10:g.30999108dup , CM000670.1:g.30999108dup	GRCh37
NC_000008.9:g.31118650dup	NCBI36
NG_008870.1:g.113331dup , LRG_524:g.113331dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000298139.7:c.3130dup MANE Select	ENSP00000298139.5:p.Thr1044AsnfsTer5
ENST00000650667.1:c.*2744dup	ENSP00000498593.1:n.*2744dup
ENST00000298139.5:c.3130dup	ENSP00000298139.5:p.Thr1044AsnfsTer5
ENST00000521620.5:n.1763dup
NM_000553.4:c.3130dup , LRG_524t1:c.3130dup	NP_000544.2:p.Thr1044AsnfsTer5
XM_011544639.1:c.3049dup	XP_011542941.1:p.Thr1017AsnfsTer5
XM_011544640.1:c.1531dup	XP_011542942.1:p.Thr511AsnfsTer5
XR_949470.1:n.3403dup
XR_949471.1:n.3403dup
XR_949472.1:n.3403dup
NM_000553.5:c.3130dup	NP_000544.2:p.Thr1044AsnfsTer5
XM_011544639.3:c.3049dup	XP_011542941.1:p.Thr1017AsnfsTer5
XM_024447265.1:c.2920dup	XP_024303033.1:p.Thr974AsnfsTer5
XR_949470.3:n.3431dup
XR_949471.3:n.3431dup
XR_949472.3:n.3431dup
NM_000553.6:c.3130dup MANE Select	NP_000544.2:p.Thr1044AsnfsTer5