Canonical Allele Identifier: CA580995319

Gene: WRN

Linked Data

• dbSNP Id: rs1563331387
• gnomAD v2: 8-30924667-A-AC
• gnomAD v4: 8-31067151-A-AC
• MyVariant Identifiers: chr8:g.30924667_30924668insC (hg19) ; chr8:g.31067151_31067152insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31067153dup , CM000670.2:g.31067153dup	GRCh38
NC_000008.10:g.30924669dup , CM000670.1:g.30924669dup	GRCh37
NC_000008.9:g.31044211dup	NCBI36
NG_008870.1:g.38892dup , LRG_524:g.38892dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.625dup MANE Select	ENSP00000298139.5:p.Gln209ProfsTer8
ENST00000650667.1:c.*239dup	ENSP00000498593.1:n.*239dup
ENST00000298139.5:c.625dup	ENSP00000298139.5:p.Gln209ProfsTer8
NM_000553.4:c.625dup , LRG_524t1:c.625dup	NP_000544.2:p.Gln209ProfsTer8
XM_011544639.1:c.625dup	XP_011542941.1:p.Gln209ProfsTer8
XR_949470.1:n.898dup
XR_949471.1:n.898dup
XR_949472.1:n.898dup
NM_000553.5:c.625dup	NP_000544.2:p.Gln209ProfsTer8
XM_011544639.3:c.625dup	XP_011542941.1:p.Gln209ProfsTer8
XM_024447265.1:c.415dup	XP_024303033.1:p.Gln139ProfsTer8
XR_949470.3:n.926dup
XR_949471.3:n.926dup
XR_949472.3:n.926dup
NM_000553.6:c.625dup MANE Select	NP_000544.2:p.Gln209ProfsTer8