Canonical Allele Identifier: CA580995318

Gene: WRN

Linked Data

• ClinVar Variation Id: 528102
• ClinVar RCV Id: RCV000633185
• dbSNP Id: rs1288535419
• gnomAD v2: 8-30924615-AAAG-A
• gnomAD v3: 8-31067099-AAAG-A
• gnomAD v4: 8-31067099-AAAG-A
• MyVariant Identifiers: chr8:g.30924617_30924619del (hg19) ; chr8:g.30924616_30924618del (hg19) ; chr8:g.31067101_31067103del (hg38) ; chr8:g.31067100_31067102del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31067101_31067103del , CM000670.2:g.31067101_31067103del	GRCh38
NC_000008.10:g.30924617_30924619del , CM000670.1:g.30924617_30924619del	GRCh37
NC_000008.9:g.31044159_31044161del	NCBI36
NG_008870.1:g.38840_38842del , LRG_524:g.38840_38842del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.573_575del MANE Select	ENSP00000298139.5:p.Lys191_Asp192delinsAsn
ENST00000650667.1:c.*187_*189del	ENSP00000498593.1:n.*187_*189del
ENST00000298139.5:c.573_575del	ENSP00000298139.5:p.Lys191_Asp192delinsAsn
NM_000553.4:c.573_575del , LRG_524t1:c.573_575del	NP_000544.2:p.Lys191_Asp192delinsAsn
XM_011544639.1:c.573_575del	XP_011542941.1:p.Lys191_Asp192delinsAsn
XR_949470.1:n.846_848del
XR_949471.1:n.846_848del
XR_949472.1:n.846_848del
NM_000553.5:c.573_575del	NP_000544.2:p.Lys191_Asp192delinsAsn
XM_011544639.3:c.573_575del	XP_011542941.1:p.Lys191_Asp192delinsAsn
XM_024447265.1:c.363_365del	XP_024303033.1:p.Lys121_Asp122delinsAsn
XR_949470.3:n.874_876del
XR_949471.3:n.874_876del
XR_949472.3:n.874_876del
NM_000553.6:c.573_575del MANE Select	NP_000544.2:p.Lys191_Asp192delinsAsn