Canonical Allele Identifier: CA4705072

Gene: WRN

Linked Data

• dbSNP Id: rs773062306
• ExAC: 8:31004695 C / CTAT
• gnomAD v2: 8-31004695-C-CTAT
• MyVariant Identifiers: chr8:g.31004695_31004696insTAT (hg19) ; chr8:g.31147179_31147180insTAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31147180_31147182dup , CM000670.2:g.31147180_31147182dup	GRCh38
NC_000008.10:g.31004696_31004698dup , CM000670.1:g.31004696_31004698dup	GRCh37
NC_000008.9:g.31124238_31124240dup	NCBI36
NG_008870.1:g.118919_118921dup , LRG_524:g.118919_118921dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.3459+52_3459+54dup MANE Select	ENSP00000298139.5:n.3459+52_3459+54dup
ENST00000650667.1:c.*3073+52_*3073+54dup	ENSP00000498593.1:n.*3073+52_*3073+54dup
ENST00000298139.5:c.3459+52_3459+54dup	ENSP00000298139.5:n.3459+52_3459+54dup
ENST00000521620.5:n.2092+52_2092+54dup
NM_000553.4:c.3459+52_3459+54dup , LRG_524t1:c.3459+52_3459+54dup	NP_000544.2:n.3459+52_3459+54dup
XM_011544639.1:c.3378+52_3378+54dup	XP_011542941.1:n.3378+52_3378+54dup
XM_011544640.1:c.1860+52_1860+54dup	XP_011542942.1:n.1860+52_1860+54dup
XR_949470.1:n.3732+52_3732+54dup
XR_949471.1:n.3732+52_3732+54dup
XR_949472.1:n.3732+52_3732+54dup
XR_949643.1:n.614+1326_614+1328dup
NM_000553.5:c.3459+52_3459+54dup	NP_000544.2:n.3459+52_3459+54dup
XM_011544639.3:c.3378+52_3378+54dup	XP_011542941.1:n.3378+52_3378+54dup
XM_024447265.1:c.3249+52_3249+54dup	XP_024303033.1:n.3249+52_3249+54dup
XR_949470.3:n.3760+52_3760+54dup
XR_949471.3:n.3760+52_3760+54dup
XR_949472.3:n.3760+52_3760+54dup
NM_000553.6:c.3459+52_3459+54dup MANE Select	NP_000544.2:n.3459+52_3459+54dup