Canonical Allele Identifier: CA4705304

Gene: WRN

Linked Data

• ClinVar Variation Id: 934784
• ClinVar RCV Id: RCV001203250
• dbSNP Id: rs746732427
• ExAC: 8:31030563 G / GT
• gnomAD v2: 8-31030563-G-GT
• gnomAD v3: 8-31173047-G-GT
• gnomAD v4: 8-31173047-G-GT
• MyVariant Identifiers: chr8:g.31030563_31030564insT (hg19) ; chr8:g.31173047_31173048insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31173048dup , CM000670.2:g.31173048dup	GRCh38
NC_000008.10:g.31030564dup , CM000670.1:g.31030564dup	GRCh37
NC_000008.9:g.31150106dup	NCBI36
NG_008870.1:g.144787dup , LRG_524:g.144787dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.4245dup MANE Select	ENSP00000298139.5:p.Asp1416Ter
ENST00000650667.1:c.*3859dup	ENSP00000498593.1:n.*3859dup
ENST00000651946.1:n.469dup
ENST00000298139.5:c.4245dup	ENSP00000298139.5:p.Asp1416Ter
ENST00000521620.5:n.2878dup
NM_000553.4:c.4245dup , LRG_524t1:c.4245dup	NP_000544.2:p.Asp1416Ter
XM_011544639.1:c.4164dup	XP_011542941.1:p.Asp1389Ter
XM_011544640.1:c.2646dup	XP_011542942.1:p.Asp883Ter
XR_949643.1:n.88-1730dup
XR_949644.1:n.88-1730dup
XR_949645.1:n.88-1730dup
XR_949646.1:n.88-1730dup
XR_949647.1:n.701-1730dup
XR_949648.1:n.603-1730dup
NM_000553.5:c.4245dup	NP_000544.2:p.Asp1416Ter
XM_011544639.3:c.4164dup	XP_011542941.1:p.Asp1389Ter
XM_024447265.1:c.4035dup	XP_024303033.1:p.Asp1346Ter
NM_000553.6:c.4245dup MANE Select	NP_000544.2:p.Asp1416Ter