Canonical Allele Identifier: CA2586964258
Gene: LMNA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156135266_156135277del , CM000663.2:g.156135266_156135277del GRCh38
NC_000001.10:g.156105057_156105068del , CM000663.1:g.156105057_156105068del GRCh37
NC_000001.9:g.154371681_154371692del NCBI36
NG_008692.2:g.57694_57705del , LRG_254:g.57694_57705del

Transcript Alleles

HGVS Amino-acid Change
ENST00000504687.7:c.332_343del ENSP00000426535.3:p.Ile111_Asp114del
ENST00000682650.1:c.890_901del ENSP00000506904.1:p.Ile297_Asp300del
ENST00000683032.1:c.890_901del ENSP00000506771.1:p.Ile297_Asp300del
ENST00000684195.1:c.890_901del ENSP00000508220.1:p.Ile297_Asp300del
ENST00000361308.9:c.890_901del ENSP00000355292.6:p.Ile297_Asp300del
ENST00000368300.9:c.890_901del MANE Select ENSP00000357283.4:p.Ile297_Asp300del
ENST00000496738.6:n.1265_1276del
ENST00000674518.1:c.*240_*251del ENSP00000502261.1:n.*240_*251del
ENST00000674600.1:c.*689_*700del ENSP00000501666.1:n.*689_*700del
ENST00000674720.1:c.890_901del ENSP00000502798.1:p.Ile297_Asp300del
ENST00000675431.1:n.583_594del
ENST00000675455.1:c.*690_*701del ENSP00000501795.1:n.*690_*701del
ENST00000675667.1:c.890_901del ENSP00000501803.1:p.Ile297_Asp300del
ENST00000675874.1:c.*361_*372del ENSP00000501851.1:n.*361_*372del
ENST00000675881.1:c.890_901del ENSP00000501670.1:p.Ile297_Asp300del
ENST00000675939.1:c.890_901del ENSP00000502256.1:p.Ile297_Asp300del
ENST00000675989.1:n.1265_1276del
ENST00000676208.1:c.890_901del ENSP00000502468.1:p.Ile297_Asp300del
ENST00000676283.1:n.1265_1276del
ENST00000676385.2:c.890_901del ENSP00000502091.1:p.Ile297_Asp300del
ENST00000676434.1:c.890_901del ENSP00000501648.1:p.Ile297_Asp300del
ENST00000677389.1:c.890_901del MANE Plus Clinical ENSP00000503633.1:p.Ile297_Asp300del
ENST00000347559.6:c.890_901del ENSP00000292304.3:p.Ile297_Asp300del
ENST00000361308.8:c.890_901del ENSP00000355292.5:p.Ile297_Asp300del
ENST00000368297.5:c.647_658del ENSP00000357280.1:p.Ile216_Asp219del
ENST00000368298.2:n.154_165del
ENST00000368299.7:c.890_901del ENSP00000357282.3:p.Ile297_Asp300del
ENST00000368300.8:c.890_901del ENSP00000357283.4:p.Ile297_Asp300del
ENST00000368301.6:c.890_901del ENSP00000357284.2:p.Ile297_Asp300del
ENST00000448611.6:c.554_565del ENSP00000395597.2:p.Ile185_Asp188del
ENST00000473598.6:c.593_604del ENSP00000421821.1:p.Ile198_Asp201del
ENST00000496738.5:n.235_246del
ENST00000515824.1:n.251_262del
NM_001257374.2:c.554_565del NP_001244303.1:p.Ile185_Asp188del
NM_001282624.1:c.647_658del NP_001269553.1:p.Ile216_Asp219del
NM_001282625.1:c.890_901del NP_001269554.1:p.Ile297_Asp300del
NM_001282626.1:c.890_901del NP_001269555.1:p.Ile297_Asp300del
NM_005572.3:c.890_901del , LRG_254t1:c.890_901del NP_005563.1:p.Ile297_Asp300del
NM_170707.3:c.890_901del NP_733821.1:p.Ile297_Asp300del
NM_170708.3:c.890_901del NP_733822.1:p.Ile297_Asp300del
XM_011509533.1:c.554_565del XP_011507835.1:p.Ile185_Asp188del
XM_011509534.1:c.226_237del XP_011507836.1:p.Ser76_Thr79del
XR_921781.1:n.1139_1150del
XM_011509534.2:c.226_237del XP_011507836.1:p.Ser76_Thr79del
XR_921781.2:n.1137_1148del
NM_170707.4:c.890_901del MANE Select NP_733821.1:p.Ile297_Asp300del
NM_001257374.3:c.554_565del NP_001244303.1:p.Ile185_Asp188del
NM_001282626.2:c.890_901del NP_001269555.1:p.Ile297_Asp300del
NM_001282624.2:c.647_658del NP_001269553.1:p.Ile216_Asp219del
NM_001282625.2:c.890_901del NP_001269554.1:p.Ile297_Asp300del
NM_005572.4:c.890_901del MANE Plus Clinical NP_005563.1:p.Ile297_Asp300del
NM_170708.4:c.890_901del NP_733822.1:p.Ile297_Asp300del