Canonical Allele Identifier: CA1140645784

Gene: LMNA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156135923_156135924delinsTT , CM000663.2:g.156135923_156135924delinsTT	GRCh38
NC_000001.10:g.156105714_156105715delinsTT , CM000663.1:g.156105714_156105715delinsTT	GRCh37
NC_000001.9:g.154372338_154372339delinsTT	NCBI36
NG_008692.2:g.58351_58352delinsTT , LRG_254:g.58351_58352delinsTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000504687.7:c.401_402delinsTT	ENSP00000426535.3:p.Leu134=
ENST00000498722.3:n.191_192delinsTT
ENST00000682650.1:c.959_960delinsTT	ENSP00000506904.1:p.Leu320=
ENST00000683032.1:c.959_960delinsTT	ENSP00000506771.1:p.Leu320=
ENST00000684195.1:c.959_960delinsTT	ENSP00000508220.1:p.Leu320=
ENST00000361308.9:c.959_960delinsTT	ENSP00000355292.6:p.Leu320=
ENST00000368300.9:c.959_960delinsTT MANE Select	ENSP00000357283.4:p.Leu320=
ENST00000496738.6:n.1334_1335delinsTT
ENST00000674518.1:c.*309_*310delinsTT	ENSP00000502261.1:n.*309_*310delinsTT
ENST00000674600.1:c.*758_*759delinsTT	ENSP00000501666.1:n.*758_*759delinsTT
ENST00000674720.1:c.959_960delinsTT	ENSP00000502798.1:p.Leu320=
ENST00000675431.1:n.652_653delinsTT
ENST00000675455.1:c.*759_*760delinsTT	ENSP00000501795.1:n.*759_*760delinsTT
ENST00000675667.1:c.959_960delinsTT	ENSP00000501803.1:p.Leu320=
ENST00000675874.1:c.*430_*431delinsTT	ENSP00000501851.1:n.*430_*431delinsTT
ENST00000675881.1:c.999_1000delinsTT	ENSP00000501670.1:p.Ala333=
ENST00000675939.1:c.959_960delinsTT	ENSP00000502256.1:p.Leu320=
ENST00000675989.1:n.1334_1335delinsTT
ENST00000676208.1:c.999_1000delinsTT	ENSP00000502468.1:p.Ala333=
ENST00000676283.1:n.1334_1335delinsTT
ENST00000676385.2:c.959_960delinsTT	ENSP00000502091.1:p.Leu320=
ENST00000676434.1:c.999_1000delinsTT	ENSP00000501648.1:p.Ala333=
ENST00000677389.1:c.959_960delinsTT MANE Plus Clinical	ENSP00000503633.1:p.Leu320=
ENST00000347559.6:c.959_960delinsTT	ENSP00000292304.3:p.Leu320=
ENST00000361308.8:c.959_960delinsTT	ENSP00000355292.5:p.Leu320=
ENST00000368297.5:c.716_717delinsTT	ENSP00000357280.1:p.Leu239=
ENST00000368298.2:n.223_224delinsTT
ENST00000368299.7:c.959_960delinsTT	ENSP00000357282.3:p.Leu320=
ENST00000368300.8:c.959_960delinsTT	ENSP00000357283.4:p.Leu320=
ENST00000368301.6:c.959_960delinsTT	ENSP00000357284.2:p.Leu320=
ENST00000448611.6:c.623_624delinsTT	ENSP00000395597.2:p.Leu208=
ENST00000473598.6:c.662_663delinsTT	ENSP00000421821.1:p.Leu221=
ENST00000496738.5:n.344_345delinsTT
ENST00000498722.2:n.191_192delinsTT
NM_001257374.2:c.623_624delinsTT	NP_001244303.1:p.Leu208=
NM_001282624.1:c.716_717delinsTT	NP_001269553.1:p.Leu239=
NM_001282625.1:c.959_960delinsTT	NP_001269554.1:p.Leu320=
NM_001282626.1:c.959_960delinsTT	NP_001269555.1:p.Leu320=
NM_005572.3:c.959_960delinsTT , LRG_254t1:c.959_960delinsTT	NP_005563.1:p.Leu320=
NM_170707.3:c.959_960delinsTT	NP_733821.1:p.Leu320=
NM_170708.3:c.959_960delinsTT	NP_733822.1:p.Leu320=
XM_011509533.1:c.623_624delinsTT	XP_011507835.1:p.Leu208=
XM_011509534.1:c.335_336delinsTT	XP_011507836.1:p.Leu112=
XR_921781.1:n.1248_1249delinsTT
XM_011509534.2:c.335_336delinsTT	XP_011507836.1:p.Leu112=
XR_921781.2:n.1246_1247delinsTT
NM_170707.4:c.959_960delinsTT MANE Select	NP_733821.1:p.Leu320=
NM_001257374.3:c.623_624delinsTT	NP_001244303.1:p.Leu208=
NM_001282626.2:c.959_960delinsTT	NP_001269555.1:p.Leu320=
NM_001282624.2:c.716_717delinsTT	NP_001269553.1:p.Leu239=
NM_001282625.2:c.959_960delinsTT	NP_001269554.1:p.Leu320=
NM_005572.4:c.959_960delinsTT MANE Plus Clinical	NP_005563.1:p.Leu320=
NM_170708.4:c.959_960delinsTT	NP_733822.1:p.Leu320=