Canonical Allele Identifier: CA4704124

Gene: WRN

Linked Data

• dbSNP Id: rs758515093
• ExAC: 8:30924731 G / GAA
• gnomAD v2: 8-30924731-G-GAA
• gnomAD v4: 8-31067215-G-GAA
• MyVariant Identifiers: chr8:g.30924731_30924732insAA (hg19) ; chr8:g.31067215_31067216insAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31067215_31067216insAA , CM000670.2:g.31067215_31067216insAA	GRCh38
NC_000008.10:g.30924731_30924732insAA , CM000670.1:g.30924731_30924732insAA	GRCh37
NC_000008.9:g.31044273_31044274insAA	NCBI36
NG_008870.1:g.38954_38955insAA , LRG_524:g.38954_38955insAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.654+33_654+34insAA MANE Select	ENSP00000298139.5:n.654+33_654+34insAA
ENST00000650667.1:c.*268+33_*268+34insAA	ENSP00000498593.1:n.*268+33_*268+34insAA
ENST00000298139.5:c.654+33_654+34insAA	ENSP00000298139.5:n.654+33_654+34insAA
NM_000553.4:c.654+33_654+34insAA , LRG_524t1:c.654+33_654+34insAA	NP_000544.2:n.654+33_654+34insAA
XM_011544639.1:c.654+33_654+34insAA	XP_011542941.1:n.654+33_654+34insAA
XR_949470.1:n.927+33_927+34insAA
XR_949471.1:n.927+33_927+34insAA
XR_949472.1:n.927+33_927+34insAA
NM_000553.5:c.654+33_654+34insAA	NP_000544.2:n.654+33_654+34insAA
XM_011544639.3:c.654+33_654+34insAA	XP_011542941.1:n.654+33_654+34insAA
XM_024447265.1:c.444+33_444+34insAA	XP_024303033.1:n.444+33_444+34insAA
XR_949470.3:n.955+33_955+34insAA
XR_949471.3:n.955+33_955+34insAA
XR_949472.3:n.955+33_955+34insAA
NM_000553.6:c.654+33_654+34insAA MANE Select	NP_000544.2:n.654+33_654+34insAA