Canonical Allele Identifier: CA580995521

Gene: WRN

Linked Data

• gnomAD v2: 8-30925859-T-G
• MyVariant Identifiers: chr8:g.30925859_30925864delinsGAAATA (hg19) ; chr8:g.31068343_31068348delinsGAAATA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31068343T>G , CM000670.2:g.31068343T>G	GRCh38
NC_000008.10:g.30925859T>G , CM000670.1:g.30925859T>G	GRCh37
NC_000008.9:g.31045401T>G	NCBI36
NG_008870.1:g.40082T>G , LRG_524:g.40082T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000298139.7:c.724+16T>G MANE Select	ENSP00000298139.5:n.724+16T>G
ENST00000650667.1:c.*338+16T>G	ENSP00000498593.1:n.*338+16T>G
ENST00000651642.1:c.19+16T>G	ENSP00000498779.1:n.19+16T>G
ENST00000298139.5:c.724+16T>G	ENSP00000298139.5:n.724+16T>G
NM_000553.4:c.724+16T>G , LRG_524t1:c.724+16T>G	NP_000544.2:n.724+16T>G
XM_011544639.1:c.724+16T>G	XP_011542941.1:n.724+16T>G
XR_949470.1:n.997+16T>G
XR_949471.1:n.997+16T>G
XR_949472.1:n.997+16T>G
NM_000553.5:c.724+16T>G	NP_000544.2:n.724+16T>G
XM_011544639.3:c.724+16T>G	XP_011542941.1:n.724+16T>G
XM_024447265.1:c.514+16T>G	XP_024303033.1:n.514+16T>G
XR_949470.3:n.1025+16T>G
XR_949471.3:n.1025+16T>G
XR_949472.3:n.1025+16T>G
NM_000553.6:c.724+16T>G MANE Select	NP_000544.2:n.724+16T>G