Canonical Allele Identifier: CA2739275311
Gene: LMNA HGNC NCBI

Linked Data

ClinVar Variation Id: 2834046
ClinVar RCV Id: RCV003744364

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156134910_156134911insAT , CM000663.2:g.156134910_156134911insAT GRCh38
NC_000001.10:g.156104701_156104702insAT , CM000663.1:g.156104701_156104702insAT GRCh37
NC_000001.9:g.154371325_154371326insAT NCBI36
NG_008692.2:g.57338_57339insAT , LRG_254:g.57338_57339insAT

Transcript Alleles

HGVS Amino-acid change
ENST00000504687.7:c.187_188insAT ENSP00000426535.3:p.Arg63HisfsTer?
ENST00000682650.1:c.745_746insAT ENSP00000506904.1:p.Arg249HisfsTer?
ENST00000683032.1:c.745_746insAT ENSP00000506771.1:p.Arg249HisfsTer?
ENST00000684195.1:c.745_746insAT ENSP00000508220.1:p.Arg249HisfsTer?
ENST00000361308.9:c.745_746insAT ENSP00000355292.6:p.Arg249HisfsTer?
ENST00000368300.9:c.745_746insAT MANE Select ENSP00000357283.4:p.Arg249HisfsTer?
ENST00000496738.6:n.1120_1121insAT
ENST00000504687.6:c.81_82insAT ENSP00000426535.2:p.Gly28MetfsTer5
ENST00000674518.1:c.*95_*96insAT ENSP00000502261.1:n.*95_*96insAT
ENST00000674600.1:c.*544_*545insAT ENSP00000501666.1:n.*544_*545insAT
ENST00000674720.1:c.745_746insAT ENSP00000502798.1:p.Arg249HisfsTer?
ENST00000675431.1:n.438_439insAT
ENST00000675455.1:c.*545_*546insAT ENSP00000501795.1:n.*545_*546insAT
ENST00000675667.1:c.745_746insAT ENSP00000501803.1:p.Arg249HisfsTer?
ENST00000675874.1:c.*216_*217insAT ENSP00000501851.1:n.*216_*217insAT
ENST00000675881.1:c.745_746insAT ENSP00000501670.1:p.Arg249HisfsTer?
ENST00000675939.1:c.745_746insAT ENSP00000502256.1:p.Arg249HisfsTer?
ENST00000675989.1:n.1120_1121insAT
ENST00000676208.1:c.745_746insAT ENSP00000502468.1:p.Arg249HisfsTer?
ENST00000676283.1:n.1120_1121insAT
ENST00000676385.2:c.745_746insAT ENSP00000502091.1:p.Arg249HisfsTer?
ENST00000676434.1:c.745_746insAT ENSP00000501648.1:p.Arg249HisfsTer?
ENST00000677389.1:c.745_746insAT MANE Plus Clinical ENSP00000503633.1:p.Arg249HisfsTer?
ENST00000347559.6:c.745_746insAT ENSP00000292304.3:p.Arg249HisfsTer?
ENST00000361308.8:c.745_746insAT ENSP00000355292.5:p.Arg249HisfsTer?
ENST00000368297.5:c.502_503insAT ENSP00000357280.1:p.Arg168HisfsTer?
ENST00000368299.7:c.745_746insAT ENSP00000357282.3:p.Arg249HisfsTer?
ENST00000368300.8:c.745_746insAT ENSP00000357283.4:p.Arg249HisfsTer?
ENST00000368301.6:c.745_746insAT ENSP00000357284.2:p.Arg249HisfsTer?
ENST00000448611.6:c.409_410insAT ENSP00000395597.2:p.Arg137HisfsTer?
ENST00000473598.6:c.448_449insAT ENSP00000421821.1:p.Arg150HisfsTer?
ENST00000496738.5:n.90_91insAT
ENST00000504687.5:c.496_497insAT ENSP00000426535.1:p.Arg166HisfsTer?
ENST00000515459.5:c.*419_*420insAT ENSP00000424518.1:n.*419_*420insAT
ENST00000515824.1:n.106_107insAT
NM_001257374.2:c.409_410insAT NP_001244303.1:p.Arg137HisfsTer?
NM_001282624.1:c.502_503insAT NP_001269553.1:p.Arg168HisfsTer?
NM_001282625.1:c.745_746insAT NP_001269554.1:p.Arg249HisfsTer?
NM_001282626.1:c.745_746insAT NP_001269555.1:p.Arg249HisfsTer?
NM_005572.3:c.745_746insAT , LRG_254t1:c.745_746insAT NP_005563.1:p.Arg249HisfsTer?
NM_170707.3:c.745_746insAT NP_733821.1:p.Arg249HisfsTer?
NM_170708.3:c.745_746insAT NP_733822.1:p.Arg249HisfsTer?
XM_011509533.1:c.409_410insAT XP_011507835.1:p.Arg137HisfsTer?
XM_011509534.1:c.81_82insAT XP_011507836.1:p.Gly28MetfsTer5
XR_921781.1:n.994_995insAT
XM_011509534.2:c.81_82insAT XP_011507836.1:p.Gly28MetfsTer5
XR_921781.2:n.992_993insAT
NM_170707.4:c.745_746insAT MANE Select NP_733821.1:p.Arg249HisfsTer?
NM_001257374.3:c.409_410insAT NP_001244303.1:p.Arg137HisfsTer?
NM_001282626.2:c.745_746insAT NP_001269555.1:p.Arg249HisfsTer?
NM_001282624.2:c.502_503insAT NP_001269553.1:p.Arg168HisfsTer?
NM_001282625.2:c.745_746insAT NP_001269554.1:p.Arg249HisfsTer?
NM_005572.4:c.745_746insAT MANE Plus Clinical NP_005563.1:p.Arg249HisfsTer?
NM_170708.4:c.745_746insAT NP_733822.1:p.Arg249HisfsTer?