Allele Registry

Canonical Allele Identifier: CA10582582

Gene: WRN HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr8:g.31120340_31120341dupAT

GRCh37 chr8:g.30977856_30977857dupAT

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000229897

ClinVar Variation:

238140

dbSNP:

878854136

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31120340_31120341dup , CM000670.2:g.31120340_31120341dup	GRCh38
NC_000008.10:g.30977856_30977857dup , CM000670.1:g.30977856_30977857dup	GRCh37
NC_000008.9:g.31097398_31097399dup	NCBI36
NG_008870.1:g.92079_92080dup , LRG_524:g.92079_92080dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.2546_2547dup MANE Select	ENSP00000298139.5:p.Gln850IlefsTer27
ENST00000650667.1:c.2160_2161dup	ENSP00000498593.1:n.2160_2161dup
ENST00000298139.5:c.2546_2547dup	ENSP00000298139.5:p.Gln850IlefsTer27
ENST00000520169.1:n.385_386dup
ENST00000521620.5:n.1179_1180dup
NM_000553.4:c.2546_2547dup , LRG_524t1:c.2546_2547dup	NP_000544.2:p.Gln850IlefsTer27
XM_011544639.1:c.2465_2466dup	XP_011542941.1:p.Gln823IlefsTer27
XM_011544640.1:c.947_948dup	XP_011542942.1:p.Gln317IlefsTer27
XR_949470.1:n.2819_2820dup
XR_949471.1:n.2819_2820dup
XR_949472.1:n.2819_2820dup
NM_000553.5:c.2546_2547dup	NP_000544.2:p.Gln850IlefsTer27
XM_011544639.3:c.2465_2466dup	XP_011542941.1:p.Gln823IlefsTer27
XM_024447265.1:c.2336_2337dup	XP_024303033.1:p.Gln780IlefsTer27
XR_949470.3:n.2847_2848dup
XR_949471.3:n.2847_2848dup
XR_949472.3:n.2847_2848dup
NM_000553.6:c.2546_2547dup MANE Select	NP_000544.2:p.Gln850IlefsTer27

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