Canonical Allele Identifier: CA2574066301
Gene: LMNA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156135947_156135952del , CM000663.2:g.156135947_156135952del GRCh38
NC_000001.10:g.156105738_156105743del , CM000663.1:g.156105738_156105743del GRCh37
NC_000001.9:g.154372362_154372367del NCBI36
NG_008692.2:g.58375_58380del , LRG_254:g.58375_58380del

Transcript Alleles

HGVS Amino-acid Change
ENST00000504687.7:c.425_430del ENSP00000426535.3:p.Ala142_Arg143del
ENST00000498722.3:n.215_220del
ENST00000682650.1:c.983_988del ENSP00000506904.1:p.Ala328_Arg329del
ENST00000683032.1:c.983_988del ENSP00000506771.1:p.Ala328_Arg329del
ENST00000684195.1:c.983_988del ENSP00000508220.1:p.Ala328_Arg329del
ENST00000361308.9:c.983_988del ENSP00000355292.6:p.Ala328_Arg329del
ENST00000368300.9:c.983_988del MANE Select ENSP00000357283.4:p.Ala328_Arg329del
ENST00000496738.6:n.1358_1363del
ENST00000674518.1:c.*333_*338del ENSP00000502261.1:n.*333_*338del
ENST00000674600.1:c.*782_*787del ENSP00000501666.1:n.*782_*787del
ENST00000674720.1:c.983_988del ENSP00000502798.1:p.Ala328_Arg329del
ENST00000675431.1:n.676_681del
ENST00000675455.1:c.*783_*788del ENSP00000501795.1:n.*783_*788del
ENST00000675667.1:c.983_988del ENSP00000501803.1:p.Ala328_Arg329del
ENST00000675874.1:c.*454_*459del ENSP00000501851.1:n.*454_*459del
ENST00000675881.1:c.1023_1028del ENSP00000501670.1:p.Pro342_Ter343del
ENST00000675939.1:c.983_988del ENSP00000502256.1:p.Ala328_Arg329del
ENST00000675989.1:n.1358_1363del
ENST00000676208.1:c.1023_1028del ENSP00000502468.1:p.Pro342_Ter343del
ENST00000676283.1:n.1358_1363del
ENST00000676385.2:c.983_988del ENSP00000502091.1:p.Ala328_Arg329del
ENST00000676434.1:c.1023_1028del ENSP00000501648.1:p.Pro342_Ter343del
ENST00000677389.1:c.983_988del MANE Plus Clinical ENSP00000503633.1:p.Ala328_Arg329del
ENST00000347559.6:c.983_988del ENSP00000292304.3:p.Ala328_Arg329del
ENST00000361308.8:c.983_988del ENSP00000355292.5:p.Ala328_Arg329del
ENST00000368297.5:c.740_745del ENSP00000357280.1:p.Ala247_Arg248del
ENST00000368298.2:n.247_252del
ENST00000368299.7:c.983_988del ENSP00000357282.3:p.Ala328_Arg329del
ENST00000368300.8:c.983_988del ENSP00000357283.4:p.Ala328_Arg329del
ENST00000368301.6:c.983_988del ENSP00000357284.2:p.Ala328_Arg329del
ENST00000448611.6:c.647_652del ENSP00000395597.2:p.Ala216_Arg217del
ENST00000473598.6:c.686_691del ENSP00000421821.1:p.Ala229_Arg230del
ENST00000496738.5:n.368_373del
ENST00000498722.2:n.215_220del
NM_001257374.2:c.647_652del NP_001244303.1:p.Ala216_Arg217del
NM_001282624.1:c.740_745del NP_001269553.1:p.Ala247_Arg248del
NM_001282625.1:c.983_988del NP_001269554.1:p.Ala328_Arg329del
NM_001282626.1:c.983_988del NP_001269555.1:p.Ala328_Arg329del
NM_005572.3:c.983_988del , LRG_254t1:c.983_988del NP_005563.1:p.Ala328_Arg329del
NM_170707.3:c.983_988del NP_733821.1:p.Ala328_Arg329del
NM_170708.3:c.983_988del NP_733822.1:p.Ala328_Arg329del
XM_011509533.1:c.647_652del XP_011507835.1:p.Ala216_Arg217del
XM_011509534.1:c.359_364del XP_011507836.1:p.Ala120_Arg121del
XR_921781.1:n.1272_1277del
XM_011509534.2:c.359_364del XP_011507836.1:p.Ala120_Arg121del
XR_921781.2:n.1270_1275del
NM_170707.4:c.983_988del MANE Select NP_733821.1:p.Ala328_Arg329del
NM_001257374.3:c.647_652del NP_001244303.1:p.Ala216_Arg217del
NM_001282626.2:c.983_988del NP_001269555.1:p.Ala328_Arg329del
NM_001282624.2:c.740_745del NP_001269553.1:p.Ala247_Arg248del
NM_001282625.2:c.983_988del NP_001269554.1:p.Ala328_Arg329del
NM_005572.4:c.983_988del MANE Plus Clinical NP_005563.1:p.Ala328_Arg329del
NM_170708.4:c.983_988del NP_733822.1:p.Ala328_Arg329del