Canonical Allele Identifier: CA2586964191
Gene: LMNA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156130719_156130722del , CM000663.2:g.156130719_156130722del GRCh38
NC_000001.10:g.156100510_156100513del , CM000663.1:g.156100510_156100513del GRCh37
NC_000001.9:g.154367134_154367137del NCBI36
NG_008692.2:g.53147_53150del , LRG_254:g.53147_53150del

Transcript Alleles

HGVS Amino-acid Change
ENST00000504687.7:c.-100_-97del ENSP00000426535.3:n.-100_-97del
ENST00000682650.1:c.459_462del ENSP00000506904.1:p.Ser153ArgfsTer23
ENST00000683032.1:c.459_462del ENSP00000506771.1:p.Ser153ArgfsTer23
ENST00000684195.1:c.459_462del ENSP00000508220.1:p.Ser153ArgfsTer23
ENST00000361308.9:c.459_462del ENSP00000355292.6:p.Ser153ArgfsTer23
ENST00000368300.9:c.459_462del MANE Select ENSP00000357283.4:p.Ser153ArgfsTer23
ENST00000496738.6:n.834_837del
ENST00000504687.6:c.-206_-203del ENSP00000426535.2:n.-206_-203del
ENST00000674518.1:c.459_462del ENSP00000502261.1:p.Ser153ArgfsTer23
ENST00000674600.1:c.*258_*261del ENSP00000501666.1:n.*258_*261del
ENST00000674720.1:c.459_462del ENSP00000502798.1:p.Ser153ArgfsTer23
ENST00000675431.1:n.152_155del
ENST00000675455.1:c.*259_*262del ENSP00000501795.1:n.*259_*262del
ENST00000675667.1:c.459_462del ENSP00000501803.1:p.Ser153ArgfsTer23
ENST00000675874.1:c.357-3684_357-3681del ENSP00000501851.1:n.357-3684_357-3681del
ENST00000675881.1:c.459_462del ENSP00000501670.1:p.Ser153ArgfsTer23
ENST00000675939.1:c.459_462del ENSP00000502256.1:p.Ser153ArgfsTer23
ENST00000675989.1:n.834_837del
ENST00000676208.1:c.459_462del ENSP00000502468.1:p.Ser153ArgfsTer23
ENST00000676283.1:n.834_837del
ENST00000676385.2:c.459_462del ENSP00000502091.1:p.Ser153ArgfsTer23
ENST00000676434.1:c.459_462del ENSP00000501648.1:p.Ser153ArgfsTer23
ENST00000677389.1:c.459_462del MANE Plus Clinical ENSP00000503633.1:p.Ser153ArgfsTer23
ENST00000347559.6:c.459_462del ENSP00000292304.3:p.Ser153ArgfsTer23
ENST00000361308.8:c.459_462del ENSP00000355292.5:p.Ser153ArgfsTer23
ENST00000368297.5:c.216_219del ENSP00000357280.1:p.Ser72ArgfsTer23
ENST00000368299.7:c.459_462del ENSP00000357282.3:p.Ser153ArgfsTer23
ENST00000368300.8:c.459_462del ENSP00000357283.4:p.Ser153ArgfsTer23
ENST00000368301.6:c.459_462del ENSP00000357284.2:p.Ser153ArgfsTer23
ENST00000448611.6:c.123_126del ENSP00000395597.2:p.Ser41ArgfsTer23
ENST00000469565.6:n.493_496del
ENST00000470199.2:n.401_404del
ENST00000473598.6:c.162_165del ENSP00000421821.1:p.Ser54ArgfsTer23
ENST00000502357.5:n.357_360del
ENST00000502751.5:n.431_434del
ENST00000504687.5:c.210_213del ENSP00000426535.1:p.Ser70ArgfsTer23
ENST00000515459.5:c.*133_*136del ENSP00000424518.1:n.*133_*136del
NM_001257374.2:c.123_126del NP_001244303.1:p.Ser41ArgfsTer23
NM_001282624.1:c.216_219del NP_001269553.1:p.Ser72ArgfsTer23
NM_001282625.1:c.459_462del NP_001269554.1:p.Ser153ArgfsTer23
NM_001282626.1:c.459_462del NP_001269555.1:p.Ser153ArgfsTer23
NM_005572.3:c.459_462del , LRG_254t1:c.459_462del NP_005563.1:p.Ser153ArgfsTer23
NM_170707.3:c.459_462del NP_733821.1:p.Ser153ArgfsTer23
NM_170708.3:c.459_462del NP_733822.1:p.Ser153ArgfsTer23
XM_011509533.1:c.123_126del XP_011507835.1:p.Ser41ArgfsTer23
XM_011509534.1:c.-206_-203del XP_011507836.1:n.-206_-203del
XR_921781.1:n.708_711del
XM_011509534.2:c.-206_-203del XP_011507836.1:n.-206_-203del
XR_921781.2:n.706_709del
NM_170707.4:c.459_462del MANE Select NP_733821.1:p.Ser153ArgfsTer23
NM_001257374.3:c.123_126del NP_001244303.1:p.Ser41ArgfsTer23
NM_001282626.2:c.459_462del NP_001269555.1:p.Ser153ArgfsTer23
NM_001282624.2:c.216_219del NP_001269553.1:p.Ser72ArgfsTer23
NM_001282625.2:c.459_462del NP_001269554.1:p.Ser153ArgfsTer23
NM_005572.4:c.459_462del MANE Plus Clinical NP_005563.1:p.Ser153ArgfsTer23
NM_170708.4:c.459_462del NP_733822.1:p.Ser153ArgfsTer23