Canonical Allele Identifier: CA2586964256
Gene: LMNA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156135256_156135258del , CM000663.2:g.156135256_156135258del GRCh38
NC_000001.10:g.156105047_156105049del , CM000663.1:g.156105047_156105049del GRCh37
NC_000001.9:g.154371671_154371673del NCBI36
NG_008692.2:g.57684_57686del , LRG_254:g.57684_57686del

Transcript Alleles

HGVS Amino-acid Change
ENST00000504687.7:c.322_324del ENSP00000426535.3:p.Gln108del
ENST00000682650.1:c.880_882del ENSP00000506904.1:p.Gln294del
ENST00000683032.1:c.880_882del ENSP00000506771.1:p.Gln294del
ENST00000684195.1:c.880_882del ENSP00000508220.1:p.Gln294del
ENST00000361308.9:c.880_882del ENSP00000355292.6:p.Gln294del
ENST00000368300.9:c.880_882del MANE Select ENSP00000357283.4:p.Gln294del
ENST00000496738.6:n.1255_1257del
ENST00000674518.1:c.*230_*232del ENSP00000502261.1:n.*230_*232del
ENST00000674600.1:c.*679_*681del ENSP00000501666.1:n.*679_*681del
ENST00000674720.1:c.880_882del ENSP00000502798.1:p.Gln294del
ENST00000675431.1:n.573_575del
ENST00000675455.1:c.*680_*682del ENSP00000501795.1:n.*680_*682del
ENST00000675667.1:c.880_882del ENSP00000501803.1:p.Gln294del
ENST00000675874.1:c.*351_*353del ENSP00000501851.1:n.*351_*353del
ENST00000675881.1:c.880_882del ENSP00000501670.1:p.Gln294del
ENST00000675939.1:c.880_882del ENSP00000502256.1:p.Gln294del
ENST00000675989.1:n.1255_1257del
ENST00000676208.1:c.880_882del ENSP00000502468.1:p.Gln294del
ENST00000676283.1:n.1255_1257del
ENST00000676385.2:c.880_882del ENSP00000502091.1:p.Gln294del
ENST00000676434.1:c.880_882del ENSP00000501648.1:p.Gln294del
ENST00000677389.1:c.880_882del MANE Plus Clinical ENSP00000503633.1:p.Gln294del
ENST00000347559.6:c.880_882del ENSP00000292304.3:p.Gln294del
ENST00000361308.8:c.880_882del ENSP00000355292.5:p.Gln294del
ENST00000368297.5:c.637_639del ENSP00000357280.1:p.Gln213del
ENST00000368298.2:n.144_146del
ENST00000368299.7:c.880_882del ENSP00000357282.3:p.Gln294del
ENST00000368300.8:c.880_882del ENSP00000357283.4:p.Gln294del
ENST00000368301.6:c.880_882del ENSP00000357284.2:p.Gln294del
ENST00000448611.6:c.544_546del ENSP00000395597.2:p.Gln182del
ENST00000473598.6:c.583_585del ENSP00000421821.1:p.Gln195del
ENST00000496738.5:n.225_227del
ENST00000515824.1:n.241_243del
NM_001257374.2:c.544_546del NP_001244303.1:p.Gln182del
NM_001282624.1:c.637_639del NP_001269553.1:p.Gln213del
NM_001282625.1:c.880_882del NP_001269554.1:p.Gln294del
NM_001282626.1:c.880_882del NP_001269555.1:p.Gln294del
NM_005572.3:c.880_882del , LRG_254t1:c.880_882del NP_005563.1:p.Gln294del
NM_170707.3:c.880_882del NP_733821.1:p.Gln294del
NM_170708.3:c.880_882del NP_733822.1:p.Gln294del
XM_011509533.1:c.544_546del XP_011507835.1:p.Gln182del
XM_011509534.1:c.216_218del XP_011507836.1:p.Ser73del
XR_921781.1:n.1129_1131del
XM_011509534.2:c.216_218del XP_011507836.1:p.Ser73del
XR_921781.2:n.1127_1129del
NM_170707.4:c.880_882del MANE Select NP_733821.1:p.Gln294del
NM_001257374.3:c.544_546del NP_001244303.1:p.Gln182del
NM_001282626.2:c.880_882del NP_001269555.1:p.Gln294del
NM_001282624.2:c.637_639del NP_001269553.1:p.Gln213del
NM_001282625.2:c.880_882del NP_001269554.1:p.Gln294del
NM_005572.4:c.880_882del MANE Plus Clinical NP_005563.1:p.Gln294del
NM_170708.4:c.880_882del NP_733822.1:p.Gln294del