Canonical Allele Identifier: CA1200467921
Gene: LMNA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156130765_156130766delinsGT , CM000663.2:g.156130765_156130766delinsGT GRCh38
NC_000001.10:g.156100556_156100557delinsGT , CM000663.1:g.156100556_156100557delinsGT GRCh37
NC_000001.9:g.154367180_154367181delinsGT NCBI36
NG_008692.2:g.53193_53194delinsGT , LRG_254:g.53193_53194delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000504687.7:c.-54_-53delinsGT ENSP00000426535.3:n.-54_-53delinsGT
ENST00000682650.1:c.505_506delinsGT ENSP00000506904.1:p.Val169=
ENST00000683032.1:c.505_506delinsGT ENSP00000506771.1:p.Val169=
ENST00000684195.1:c.505_506delinsGT ENSP00000508220.1:p.Val169=
ENST00000361308.9:c.505_506delinsGT ENSP00000355292.6:p.Val169=
ENST00000368300.9:c.505_506delinsGT MANE Select ENSP00000357283.4:p.Val169=
ENST00000496738.6:n.880_881delinsGT
ENST00000504687.6:c.-160_-159delinsGT ENSP00000426535.2:n.-160_-159delinsGT
ENST00000674518.1:c.505_506delinsGT ENSP00000502261.1:p.Val169=
ENST00000674600.1:c.*304_*305delinsGT ENSP00000501666.1:n.*304_*305delinsGT
ENST00000674720.1:c.505_506delinsGT ENSP00000502798.1:p.Val169=
ENST00000675431.1:n.198_199delinsGT
ENST00000675455.1:c.*305_*306delinsGT ENSP00000501795.1:n.*305_*306delinsGT
ENST00000675667.1:c.505_506delinsGT ENSP00000501803.1:p.Val169=
ENST00000675874.1:c.357-3638_357-3637delinsGT ENSP00000501851.1:n.357-3638_357-3637delinsGT
ENST00000675881.1:c.505_506delinsGT ENSP00000501670.1:p.Val169=
ENST00000675939.1:c.505_506delinsGT ENSP00000502256.1:p.Val169=
ENST00000675989.1:n.880_881delinsGT
ENST00000676208.1:c.505_506delinsGT ENSP00000502468.1:p.Val169=
ENST00000676283.1:n.880_881delinsGT
ENST00000676385.2:c.505_506delinsGT ENSP00000502091.1:p.Val169=
ENST00000676434.1:c.505_506delinsGT ENSP00000501648.1:p.Val169=
ENST00000677389.1:c.505_506delinsGT MANE Plus Clinical ENSP00000503633.1:p.Val169=
ENST00000347559.6:c.505_506delinsGT ENSP00000292304.3:p.Val169=
ENST00000361308.8:c.505_506delinsGT ENSP00000355292.5:p.Val169=
ENST00000368297.5:c.262_263delinsGT ENSP00000357280.1:p.Val88=
ENST00000368299.7:c.505_506delinsGT ENSP00000357282.3:p.Val169=
ENST00000368300.8:c.505_506delinsGT ENSP00000357283.4:p.Val169=
ENST00000368301.6:c.505_506delinsGT ENSP00000357284.2:p.Val169=
ENST00000448611.6:c.169_170delinsGT ENSP00000395597.2:p.Val57=
ENST00000469565.6:n.539_540delinsGT
ENST00000470199.2:n.447_448delinsGT
ENST00000473598.6:c.208_209delinsGT ENSP00000421821.1:p.Val70=
ENST00000502357.5:n.403_404delinsGT
ENST00000502751.5:n.477_478delinsGT
ENST00000504687.5:c.256_257delinsGT ENSP00000426535.1:p.Val86=
ENST00000515459.5:c.*179_*180delinsGT ENSP00000424518.1:n.*179_*180delinsGT
NM_001257374.2:c.169_170delinsGT NP_001244303.1:p.Val57=
NM_001282624.1:c.262_263delinsGT NP_001269553.1:p.Val88=
NM_001282625.1:c.505_506delinsGT NP_001269554.1:p.Val169=
NM_001282626.1:c.505_506delinsGT NP_001269555.1:p.Val169=
NM_005572.3:c.505_506delinsGT , LRG_254t1:c.505_506delinsGT NP_005563.1:p.Val169=
NM_170707.3:c.505_506delinsGT NP_733821.1:p.Val169=
NM_170708.3:c.505_506delinsGT NP_733822.1:p.Val169=
XM_011509533.1:c.169_170delinsGT XP_011507835.1:p.Val57=
XM_011509534.1:c.-160_-159delinsGT XP_011507836.1:n.-160_-159delinsGT
XR_921781.1:n.754_755delinsGT
XM_011509534.2:c.-160_-159delinsGT XP_011507836.1:n.-160_-159delinsGT
XR_921781.2:n.752_753delinsGT
NM_170707.4:c.505_506delinsGT MANE Select NP_733821.1:p.Val169=
NM_001257374.3:c.169_170delinsGT NP_001244303.1:p.Val57=
NM_001282626.2:c.505_506delinsGT NP_001269555.1:p.Val169=
NM_001282624.2:c.262_263delinsGT NP_001269553.1:p.Val88=
NM_001282625.2:c.505_506delinsGT NP_001269554.1:p.Val169=
NM_005572.4:c.505_506delinsGT MANE Plus Clinical NP_005563.1:p.Val169=
NM_170708.4:c.505_506delinsGT NP_733822.1:p.Val169=