Canonical Allele Identifier: CA916080237
Gene: LMNA HGNC NCBI

Linked Data

ClinVar Variation Id: 842305
dbSNP Id: rs1651736894

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156137230del , CM000663.2:g.156137230del GRCh38
NC_000001.10:g.156107021del , CM000663.1:g.156107021del GRCh37
NC_000001.9:g.154373645del NCBI36
NG_008692.2:g.59658del , LRG_254:g.59658del

Transcript Alleles

HGVS Amino-acid Change
ENST00000504687.7:c.1048del ENSP00000426535.3:p.Glu350LysfsTer12
ENST00000459904.2:n.854del
ENST00000498722.3:n.838del
ENST00000682650.1:c.1606del ENSP00000506904.1:p.Glu536LysfsTer?
ENST00000683032.1:c.1606del ENSP00000506771.1:p.Glu536LysfsTer12
ENST00000684195.1:c.1579+27del ENSP00000508220.1:n.1579+27del
ENST00000361308.9:c.1606del ENSP00000355292.6:p.Glu536LysfsTer12
ENST00000368300.9:c.1606del MANE Select ENSP00000357283.4:p.Glu536LysfsTer12
ENST00000496738.6:n.2065del
ENST00000674518.1:c.*956del ENSP00000502261.1:n.*956del
ENST00000674600.1:c.*1405del ENSP00000501666.1:n.*1405del
ENST00000674720.1:c.*168del ENSP00000502798.1:n.*168del
ENST00000675431.1:n.1299del
ENST00000675455.1:c.*1406del ENSP00000501795.1:n.*1406del
ENST00000675667.1:c.1606del ENSP00000501803.1:p.Glu536LysfsTer12
ENST00000675874.1:c.*1077del ENSP00000501851.1:n.*1077del
ENST00000675881.1:c.*617del ENSP00000501670.1:n.*617del
ENST00000675939.1:c.1606del ENSP00000502256.1:p.Glu536LysfsTer12
ENST00000675989.1:n.2465del
ENST00000676208.1:c.*709del ENSP00000502468.1:n.*709del
ENST00000676283.1:n.1981del
ENST00000676385.2:c.1606del ENSP00000502091.1:p.Glu536LysfsTer?
ENST00000676434.1:c.*617del ENSP00000501648.1:n.*617del
ENST00000677389.1:c.1606del MANE Plus Clinical ENSP00000503633.1:p.Glu536LysfsTer12
ENST00000347559.6:c.1606del ENSP00000292304.3:p.Glu536LysfsTer?
ENST00000361308.8:c.1351del ENSP00000355292.5:p.Glu451LysfsTer12
ENST00000368297.5:c.1363del ENSP00000357280.1:p.Glu455LysfsTer12
ENST00000368298.2:n.1438del
ENST00000368299.7:c.1606del ENSP00000357282.3:p.Glu536LysfsTer12
ENST00000368300.8:c.1606del ENSP00000357283.4:p.Glu536LysfsTer12
ENST00000368301.6:c.1606del ENSP00000357284.2:p.Glu536LysfsTer12
ENST00000448611.6:c.1270del ENSP00000395597.2:p.Glu424LysfsTer12
ENST00000459904.1:n.854del
ENST00000473598.6:c.1309del ENSP00000421821.1:p.Glu437LysfsTer12
ENST00000496738.5:n.1075del
ENST00000498722.2:n.838del
ENST00000508500.1:c.484del ENSP00000424977.1:p.Glu162LysfsTer?
NM_001257374.2:c.1270del NP_001244303.1:p.Glu424LysfsTer12
NM_001282624.1:c.1363del NP_001269553.1:p.Glu455LysfsTer12
NM_001282625.1:c.1606del NP_001269554.1:p.Glu536LysfsTer12
NM_001282626.1:c.1606del NP_001269555.1:p.Glu536LysfsTer12
NM_005572.3:c.1606del , LRG_254t1:c.1606del NP_005563.1:p.Glu536LysfsTer12
NM_170707.3:c.1606del NP_733821.1:p.Glu536LysfsTer12
NM_170708.3:c.1606del NP_733822.1:p.Glu536LysfsTer?
XM_011509533.1:c.1270del XP_011507835.1:p.Glu424LysfsTer12
XM_011509534.1:c.982del XP_011507836.1:p.Glu328LysfsTer12
XR_921781.1:n.1895del
XM_011509534.2:c.982del XP_011507836.1:p.Glu328LysfsTer12
XR_921781.2:n.1893del
NM_170707.4:c.1606del MANE Select NP_733821.1:p.Glu536LysfsTer12
NM_001257374.3:c.1270del NP_001244303.1:p.Glu424LysfsTer12
NM_001282626.2:c.1606del NP_001269555.1:p.Glu536LysfsTer12
NM_001282624.2:c.1363del NP_001269553.1:p.Glu455LysfsTer12
NM_001282625.2:c.1606del NP_001269554.1:p.Glu536LysfsTer12
NM_005572.4:c.1606del MANE Plus Clinical NP_005563.1:p.Glu536LysfsTer12
NM_170708.4:c.1606del NP_733822.1:p.Glu536LysfsTer?