Canonical Allele Identifier: CA2586964212
Gene: LMNA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156134893_156134912del , CM000663.2:g.156134893_156134912del GRCh38
NC_000001.10:g.156104684_156104703del , CM000663.1:g.156104684_156104703del GRCh37
NC_000001.9:g.154371308_154371327del NCBI36
NG_008692.2:g.57321_57340del , LRG_254:g.57321_57340del

Transcript Alleles

HGVS Amino-acid change
ENST00000504687.7:c.170_189del ENSP00000426535.3:p.Asp57GlyfsTer4
ENST00000682650.1:c.728_747del ENSP00000506904.1:p.Asp243GlyfsTer4
ENST00000683032.1:c.728_747del ENSP00000506771.1:p.Asp243GlyfsTer4
ENST00000684195.1:c.728_747del ENSP00000508220.1:p.Asp243GlyfsTer4
ENST00000361308.9:c.728_747del ENSP00000355292.6:p.Asp243GlyfsTer4
ENST00000368300.9:c.728_747del MANE Select ENSP00000357283.4:p.Asp243GlyfsTer4
ENST00000496738.6:n.1103_1122del
ENST00000504687.6:c.64_83del ENSP00000426535.2:p.Met22AlafsTer?
ENST00000674518.1:c.*78_*97del ENSP00000502261.1:n.*78_*97del
ENST00000674600.1:c.*527_*546del ENSP00000501666.1:n.*527_*546del
ENST00000674720.1:c.728_747del ENSP00000502798.1:p.Asp243GlyfsTer4
ENST00000675431.1:n.421_440del
ENST00000675455.1:c.*528_*547del ENSP00000501795.1:n.*528_*547del
ENST00000675667.1:c.728_747del ENSP00000501803.1:p.Asp243GlyfsTer4
ENST00000675874.1:c.*199_*218del ENSP00000501851.1:n.*199_*218del
ENST00000675881.1:c.728_747del ENSP00000501670.1:p.Asp243GlyfsTer4
ENST00000675939.1:c.728_747del ENSP00000502256.1:p.Asp243GlyfsTer4
ENST00000675989.1:n.1103_1122del
ENST00000676208.1:c.728_747del ENSP00000502468.1:p.Asp243GlyfsTer4
ENST00000676283.1:n.1103_1122del
ENST00000676385.2:c.728_747del ENSP00000502091.1:p.Asp243GlyfsTer4
ENST00000676434.1:c.728_747del ENSP00000501648.1:p.Asp243GlyfsTer4
ENST00000677389.1:c.728_747del MANE Plus Clinical ENSP00000503633.1:p.Asp243GlyfsTer4
ENST00000347559.6:c.728_747del ENSP00000292304.3:p.Asp243GlyfsTer4
ENST00000361308.8:c.728_747del ENSP00000355292.5:p.Asp243GlyfsTer4
ENST00000368297.5:c.485_504del ENSP00000357280.1:p.Asp162GlyfsTer4
ENST00000368299.7:c.728_747del ENSP00000357282.3:p.Asp243GlyfsTer4
ENST00000368300.8:c.728_747del ENSP00000357283.4:p.Asp243GlyfsTer4
ENST00000368301.6:c.728_747del ENSP00000357284.2:p.Asp243GlyfsTer4
ENST00000448611.6:c.392_411del ENSP00000395597.2:p.Asp131GlyfsTer4
ENST00000473598.6:c.431_450del ENSP00000421821.1:p.Asp144GlyfsTer4
ENST00000496738.5:n.73_92del
ENST00000504687.5:c.479_498del ENSP00000426535.1:p.Asp160GlyfsTer4
ENST00000515459.5:c.*402_*421del ENSP00000424518.1:n.*402_*421del
ENST00000515824.1:n.89_108del
NM_001257374.2:c.392_411del NP_001244303.1:p.Asp131GlyfsTer4
NM_001282624.1:c.485_504del NP_001269553.1:p.Asp162GlyfsTer4
NM_001282625.1:c.728_747del NP_001269554.1:p.Asp243GlyfsTer4
NM_001282626.1:c.728_747del NP_001269555.1:p.Asp243GlyfsTer4
NM_005572.3:c.728_747del , LRG_254t1:c.728_747del NP_005563.1:p.Asp243GlyfsTer4
NM_170707.3:c.728_747del NP_733821.1:p.Asp243GlyfsTer4
NM_170708.3:c.728_747del NP_733822.1:p.Asp243GlyfsTer4
XM_011509533.1:c.392_411del XP_011507835.1:p.Asp131GlyfsTer4
XM_011509534.1:c.64_83del XP_011507836.1:p.Met22AlafsTer?
XR_921781.1:n.977_996del
XM_011509534.2:c.64_83del XP_011507836.1:p.Met22AlafsTer?
XR_921781.2:n.975_994del
NM_170707.4:c.728_747del MANE Select NP_733821.1:p.Asp243GlyfsTer4
NM_001257374.3:c.392_411del NP_001244303.1:p.Asp131GlyfsTer4
NM_001282626.2:c.728_747del NP_001269555.1:p.Asp243GlyfsTer4
NM_001282624.2:c.485_504del NP_001269553.1:p.Asp162GlyfsTer4
NM_001282625.2:c.728_747del NP_001269554.1:p.Asp243GlyfsTer4
NM_005572.4:c.728_747del MANE Plus Clinical NP_005563.1:p.Asp243GlyfsTer4
NM_170708.4:c.728_747del NP_733822.1:p.Asp243GlyfsTer4