Canonical Allele Identifier: CA4704145

Gene: WRN

Linked Data

• ClinVar Variation Id: 1563864
• ClinVar RCV Id: RCV002216483
• dbSNP Id: rs750355171
• ExAC: 8:30925859 TAAATA / T
• gnomAD v2: 8-30925859-TAAATA-T
• gnomAD v3: 8-31068343-TAAATA-T
• gnomAD v4: 8-31068343-TAAATA-T
• MyVariant Identifiers: chr8:g.30925860_30925864del (hg19) ; chr8:g.31068345_31068349del (hg38) ; chr8:g.31068344_31068348del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31068348_31068352del , CM000670.2:g.31068348_31068352del	GRCh38
NC_000008.10:g.30925864_30925868del , CM000670.1:g.30925864_30925868del	GRCh37
NC_000008.9:g.31045406_31045410del	NCBI36
NG_008870.1:g.40087_40091del , LRG_524:g.40087_40091del

Transcript Alleles

HGVS	Amino-acid change
ENST00000298139.7:c.724+21_724+25del MANE Select	ENSP00000298139.5:n.724+21_724+25del
ENST00000650667.1:c.*338+21_*338+25del	ENSP00000498593.1:n.*338+21_*338+25del
ENST00000651642.1:c.19+21_19+25del	ENSP00000498779.1:n.19+21_19+25del
ENST00000298139.5:c.724+21_724+25del	ENSP00000298139.5:n.724+21_724+25del
NM_000553.4:c.724+21_724+25del , LRG_524t1:c.724+21_724+25del	NP_000544.2:n.724+21_724+25del
XM_011544639.1:c.724+21_724+25del	XP_011542941.1:n.724+21_724+25del
XR_949470.1:n.997+21_997+25del
XR_949471.1:n.997+21_997+25del
XR_949472.1:n.997+21_997+25del
NM_000553.5:c.724+21_724+25del	NP_000544.2:n.724+21_724+25del
XM_011544639.3:c.724+21_724+25del	XP_011542941.1:n.724+21_724+25del
XM_024447265.1:c.514+21_514+25del	XP_024303033.1:n.514+21_514+25del
XR_949470.3:n.1025+21_1025+25del
XR_949471.3:n.1025+21_1025+25del
XR_949472.3:n.1025+21_1025+25del
NM_000553.6:c.724+21_724+25del MANE Select	NP_000544.2:n.724+21_724+25del