Canonical Allele Identifier: CA2580078176

Gene: WRN

Linked Data

• ClinVar Variation Id: 1981781
• ClinVar RCV Id: RCV002766428
• gnomAD v4: 8-31147037-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31147041del , CM000670.2:g.31147041del	GRCh38
NC_000008.10:g.31004557del , CM000670.1:g.31004557del	GRCh37
NC_000008.9:g.31124099del	NCBI36
NG_008870.1:g.118780del , LRG_524:g.118780del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.3384-12del MANE Select	ENSP00000298139.5:n.3384-12del
ENST00000650667.1:c.*2998-12del	ENSP00000498593.1:n.*2998-12del
ENST00000298139.5:c.3384-12del	ENSP00000298139.5:n.3384-12del
ENST00000521620.5:n.2017-12del
NM_000553.4:c.3384-12del , LRG_524t1:c.3384-12del	NP_000544.2:n.3384-12del
XM_011544639.1:c.3303-12del	XP_011542941.1:n.3303-12del
XM_011544640.1:c.1785-12del	XP_011542942.1:n.1785-12del
XR_949470.1:n.3657-12del
XR_949471.1:n.3657-12del
XR_949472.1:n.3657-12del
XR_949643.1:n.614+1470del
NM_000553.5:c.3384-12del	NP_000544.2:n.3384-12del
XM_011544639.3:c.3303-12del	XP_011542941.1:n.3303-12del
XM_024447265.1:c.3174-12del	XP_024303033.1:n.3174-12del
XR_949470.3:n.3685-12del
XR_949471.3:n.3685-12del
XR_949472.3:n.3685-12del
NM_000553.6:c.3384-12del MANE Select	NP_000544.2:n.3384-12del