Canonical Allele Identifier: CA018281
Gene: LMNA HGNC NCBI

Linked Data

ClinVar Variation Id: 200958
ClinVar RCV Id: RCV000182388
dbSNP Id: rs794728607

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156134475_156134485del , CM000663.2:g.156134475_156134485del GRCh38
NC_000001.10:g.156104266_156104276del , CM000663.1:g.156104266_156104276del GRCh37
NC_000001.9:g.154370890_154370900del NCBI36
NG_008692.2:g.56903_56913del , LRG_254:g.56903_56913del

Transcript Alleles

HGVS Amino-acid change
ENST00000504687.7:c.28_38del ENSP00000426535.3:p.Arg10HisfsTer14
ENST00000682650.1:c.586_596del ENSP00000506904.1:p.Arg196HisfsTer14
ENST00000683032.1:c.586_596del ENSP00000506771.1:p.Arg196HisfsTer14
ENST00000684195.1:c.586_596del ENSP00000508220.1:p.Arg196HisfsTer14
ENST00000361308.9:c.586_596del ENSP00000355292.6:p.Arg196HisfsTer14
ENST00000368300.9:c.586_596del MANE Select ENSP00000357283.4:p.Arg196HisfsTer14
ENST00000496738.6:n.961_971del
ENST00000504687.6:c.-79_-69del ENSP00000426535.2:n.-79_-69del
ENST00000674518.1:c.586_596del ENSP00000502261.1:p.Arg196HisfsTer?
ENST00000674600.1:c.*385_*395del ENSP00000501666.1:n.*385_*395del
ENST00000674720.1:c.586_596del ENSP00000502798.1:p.Arg196HisfsTer14
ENST00000675431.1:n.279_289del
ENST00000675455.1:c.*386_*396del ENSP00000501795.1:n.*386_*396del
ENST00000675667.1:c.586_596del ENSP00000501803.1:p.Arg196HisfsTer14
ENST00000675874.1:c.*57_*67del ENSP00000501851.1:n.*57_*67del
ENST00000675881.1:c.586_596del ENSP00000501670.1:p.Arg196HisfsTer14
ENST00000675939.1:c.586_596del ENSP00000502256.1:p.Arg196HisfsTer14
ENST00000675989.1:n.961_971del
ENST00000676208.1:c.586_596del ENSP00000502468.1:p.Arg196HisfsTer14
ENST00000676283.1:n.961_971del
ENST00000676385.2:c.586_596del ENSP00000502091.1:p.Arg196HisfsTer14
ENST00000676434.1:c.586_596del ENSP00000501648.1:p.Arg196HisfsTer14
ENST00000677389.1:c.586_596del MANE Plus Clinical ENSP00000503633.1:p.Arg196HisfsTer14
ENST00000347559.6:c.586_596del ENSP00000292304.3:p.Arg196HisfsTer14
ENST00000361308.8:c.586_596del ENSP00000355292.5:p.Arg196HisfsTer14
ENST00000368297.5:c.343_353del ENSP00000357280.1:p.Arg115HisfsTer14
ENST00000368299.7:c.586_596del ENSP00000357282.3:p.Arg196HisfsTer14
ENST00000368300.8:c.586_596del ENSP00000357283.4:p.Arg196HisfsTer14
ENST00000368301.6:c.586_596del ENSP00000357284.2:p.Arg196HisfsTer14
ENST00000448611.6:c.250_260del ENSP00000395597.2:p.Arg84HisfsTer14
ENST00000470199.2:n.528_538del
ENST00000473598.6:c.289_299del ENSP00000421821.1:p.Arg97HisfsTer14
ENST00000502357.5:n.484_494del
ENST00000502751.5:n.558_568del
ENST00000504687.5:c.337_347del ENSP00000426535.1:p.Arg113HisfsTer14
ENST00000515459.5:c.*260_*270del ENSP00000424518.1:n.*260_*270del
NM_001257374.2:c.250_260del NP_001244303.1:p.Arg84HisfsTer14
NM_001282624.1:c.343_353del NP_001269553.1:p.Arg115HisfsTer14
NM_001282625.1:c.586_596del NP_001269554.1:p.Arg196HisfsTer14
NM_001282626.1:c.586_596del NP_001269555.1:p.Arg196HisfsTer14
NM_005572.3:c.586_596del , LRG_254t1:c.586_596del NP_005563.1:p.Arg196HisfsTer14
NM_170707.3:c.586_596del NP_733821.1:p.Arg196HisfsTer14
NM_170708.3:c.586_596del NP_733822.1:p.Arg196HisfsTer14
XM_011509533.1:c.250_260del XP_011507835.1:p.Arg84HisfsTer14
XM_011509534.1:c.-79_-69del XP_011507836.1:n.-79_-69del
XR_921781.1:n.835_845del
XM_011509534.2:c.-79_-69del XP_011507836.1:n.-79_-69del
XR_921781.2:n.833_843del
NM_170707.4:c.586_596del MANE Select NP_733821.1:p.Arg196HisfsTer14
NM_001257374.3:c.250_260del NP_001244303.1:p.Arg84HisfsTer14
NM_001282626.2:c.586_596del NP_001269555.1:p.Arg196HisfsTer14
NM_001282624.2:c.343_353del NP_001269553.1:p.Arg115HisfsTer14
NM_001282625.2:c.586_596del NP_001269554.1:p.Arg196HisfsTer14
NM_005572.4:c.586_596del MANE Plus Clinical NP_005563.1:p.Arg196HisfsTer14
NM_170708.4:c.586_596del NP_733822.1:p.Arg196HisfsTer14