Canonical Allele Identifier: CA2580611205

Gene: LMNA

Linked Data

• ClinVar Variation Id: 2169482
• ClinVar RCV Id: RCV003084848

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156134834_156134835del , CM000663.2:g.156134834_156134835del	GRCh38
NC_000001.10:g.156104625_156104626del , CM000663.1:g.156104625_156104626del	GRCh37
NC_000001.9:g.154371249_154371250del	NCBI36
NG_008692.2:g.57262_57263del , LRG_254:g.57262_57263del

Transcript Alleles

HGVS	Amino-acid change
ENST00000504687.7:c.111_112del	ENSP00000426535.3:p.Glu37AspfsTer7
ENST00000682650.1:c.669_670del	ENSP00000506904.1:p.Glu223AspfsTer7
ENST00000683032.1:c.669_670del	ENSP00000506771.1:p.Glu223AspfsTer7
ENST00000684195.1:c.669_670del	ENSP00000508220.1:p.Glu223AspfsTer7
ENST00000361308.9:c.669_670del	ENSP00000355292.6:p.Glu223AspfsTer7
ENST00000368300.9:c.669_670del MANE Select	ENSP00000357283.4:p.Glu223AspfsTer7
ENST00000496738.6:n.1044_1045del
ENST00000504687.6:c.5_6del	ENSP00000426535.2:p.Arg2ThrfsTer?
ENST00000674518.1:c.*19_*20del	ENSP00000502261.1:n.*19_*20del
ENST00000674600.1:c.*468_*469del	ENSP00000501666.1:n.*468_*469del
ENST00000674720.1:c.669_670del	ENSP00000502798.1:p.Glu223AspfsTer7
ENST00000675431.1:n.362_363del
ENST00000675455.1:c.*469_*470del	ENSP00000501795.1:n.*469_*470del
ENST00000675667.1:c.669_670del	ENSP00000501803.1:p.Glu223AspfsTer7
ENST00000675874.1:c.*140_*141del	ENSP00000501851.1:n.*140_*141del
ENST00000675881.1:c.669_670del	ENSP00000501670.1:p.Glu223AspfsTer7
ENST00000675939.1:c.669_670del	ENSP00000502256.1:p.Glu223AspfsTer7
ENST00000675989.1:n.1044_1045del
ENST00000676208.1:c.669_670del	ENSP00000502468.1:p.Glu223AspfsTer7
ENST00000676283.1:n.1044_1045del
ENST00000676385.2:c.669_670del	ENSP00000502091.1:p.Glu223AspfsTer7
ENST00000676434.1:c.669_670del	ENSP00000501648.1:p.Glu223AspfsTer7
ENST00000677389.1:c.669_670del MANE Plus Clinical	ENSP00000503633.1:p.Glu223AspfsTer7
ENST00000347559.6:c.669_670del	ENSP00000292304.3:p.Glu223AspfsTer7
ENST00000361308.8:c.669_670del	ENSP00000355292.5:p.Glu223AspfsTer7
ENST00000368297.5:c.426_427del	ENSP00000357280.1:p.Glu142AspfsTer7
ENST00000368299.7:c.669_670del	ENSP00000357282.3:p.Glu223AspfsTer7
ENST00000368300.8:c.669_670del	ENSP00000357283.4:p.Glu223AspfsTer7
ENST00000368301.6:c.669_670del	ENSP00000357284.2:p.Glu223AspfsTer7
ENST00000448611.6:c.333_334del	ENSP00000395597.2:p.Glu111AspfsTer7
ENST00000473598.6:c.372_373del	ENSP00000421821.1:p.Glu124AspfsTer7
ENST00000496738.5:n.14_15del
ENST00000504687.5:c.420_421del	ENSP00000426535.1:p.Glu140AspfsTer7
ENST00000515459.5:c.*343_*344del	ENSP00000424518.1:n.*343_*344del
ENST00000515824.1:n.30_31del
NM_001257374.2:c.333_334del	NP_001244303.1:p.Glu111AspfsTer7
NM_001282624.1:c.426_427del	NP_001269553.1:p.Glu142AspfsTer7
NM_001282625.1:c.669_670del	NP_001269554.1:p.Glu223AspfsTer7
NM_001282626.1:c.669_670del	NP_001269555.1:p.Glu223AspfsTer7
NM_005572.3:c.669_670del , LRG_254t1:c.669_670del	NP_005563.1:p.Glu223AspfsTer7
NM_170707.3:c.669_670del	NP_733821.1:p.Glu223AspfsTer7
NM_170708.3:c.669_670del	NP_733822.1:p.Glu223AspfsTer7
XM_011509533.1:c.333_334del	XP_011507835.1:p.Glu111AspfsTer7
XM_011509534.1:c.5_6del	XP_011507836.1:p.Arg2ThrfsTer?
XR_921781.1:n.918_919del
XM_011509534.2:c.5_6del	XP_011507836.1:p.Arg2ThrfsTer?
XR_921781.2:n.916_917del
NM_170707.4:c.669_670del MANE Select	NP_733821.1:p.Glu223AspfsTer7
NM_001257374.3:c.333_334del	NP_001244303.1:p.Glu111AspfsTer7
NM_001282626.2:c.669_670del	NP_001269555.1:p.Glu223AspfsTer7
NM_001282624.2:c.426_427del	NP_001269553.1:p.Glu142AspfsTer7
NM_001282625.2:c.669_670del	NP_001269554.1:p.Glu223AspfsTer7
NM_005572.4:c.669_670del MANE Plus Clinical	NP_005563.1:p.Glu223AspfsTer7
NM_170708.4:c.669_670del	NP_733822.1:p.Glu223AspfsTer7