Canonical Allele Identifier: CA1200472389

Gene: LMNA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156135922_156135923delinsCT , CM000663.2:g.156135922_156135923delinsCT	GRCh38
NC_000001.10:g.156105713_156105714delinsCT , CM000663.1:g.156105713_156105714delinsCT	GRCh37
NC_000001.9:g.154372337_154372338delinsCT	NCBI36
NG_008692.2:g.58350_58351delinsCT , LRG_254:g.58350_58351delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504687.7:c.400_401delinsCT	ENSP00000426535.3:p.Leu134=
ENST00000498722.3:n.190_191delinsCT
ENST00000682650.1:c.958_959delinsCT	ENSP00000506904.1:p.Leu320=
ENST00000683032.1:c.958_959delinsCT	ENSP00000506771.1:p.Leu320=
ENST00000684195.1:c.958_959delinsCT	ENSP00000508220.1:p.Leu320=
ENST00000361308.9:c.958_959delinsCT	ENSP00000355292.6:p.Leu320=
ENST00000368300.9:c.958_959delinsCT MANE Select	ENSP00000357283.4:p.Leu320=
ENST00000496738.6:n.1333_1334delinsCT
ENST00000674518.1:c.*308_*309delinsCT	ENSP00000502261.1:n.*308_*309delinsCT
ENST00000674600.1:c.*757_*758delinsCT	ENSP00000501666.1:n.*757_*758delinsCT
ENST00000674720.1:c.958_959delinsCT	ENSP00000502798.1:p.Leu320=
ENST00000675431.1:n.651_652delinsCT
ENST00000675455.1:c.*758_*759delinsCT	ENSP00000501795.1:n.*758_*759delinsCT
ENST00000675667.1:c.958_959delinsCT	ENSP00000501803.1:p.Leu320=
ENST00000675874.1:c.*429_*430delinsCT	ENSP00000501851.1:n.*429_*430delinsCT
ENST00000675881.1:c.998_999delinsCT	ENSP00000501670.1:p.Ala333=
ENST00000675939.1:c.958_959delinsCT	ENSP00000502256.1:p.Leu320=
ENST00000675989.1:n.1333_1334delinsCT
ENST00000676208.1:c.998_999delinsCT	ENSP00000502468.1:p.Ala333=
ENST00000676283.1:n.1333_1334delinsCT
ENST00000676385.2:c.958_959delinsCT	ENSP00000502091.1:p.Leu320=
ENST00000676434.1:c.998_999delinsCT	ENSP00000501648.1:p.Ala333=
ENST00000677389.1:c.958_959delinsCT MANE Plus Clinical	ENSP00000503633.1:p.Leu320=
ENST00000347559.6:c.958_959delinsCT	ENSP00000292304.3:p.Leu320=
ENST00000361308.8:c.958_959delinsCT	ENSP00000355292.5:p.Leu320=
ENST00000368297.5:c.715_716delinsCT	ENSP00000357280.1:p.Leu239=
ENST00000368298.2:n.222_223delinsCT
ENST00000368299.7:c.958_959delinsCT	ENSP00000357282.3:p.Leu320=
ENST00000368300.8:c.958_959delinsCT	ENSP00000357283.4:p.Leu320=
ENST00000368301.6:c.958_959delinsCT	ENSP00000357284.2:p.Leu320=
ENST00000448611.6:c.622_623delinsCT	ENSP00000395597.2:p.Leu208=
ENST00000473598.6:c.661_662delinsCT	ENSP00000421821.1:p.Leu221=
ENST00000496738.5:n.343_344delinsCT
ENST00000498722.2:n.190_191delinsCT
NM_001257374.2:c.622_623delinsCT	NP_001244303.1:p.Leu208=
NM_001282624.1:c.715_716delinsCT	NP_001269553.1:p.Leu239=
NM_001282625.1:c.958_959delinsCT	NP_001269554.1:p.Leu320=
NM_001282626.1:c.958_959delinsCT	NP_001269555.1:p.Leu320=
NM_005572.3:c.958_959delinsCT , LRG_254t1:c.958_959delinsCT	NP_005563.1:p.Leu320=
NM_170707.3:c.958_959delinsCT	NP_733821.1:p.Leu320=
NM_170708.3:c.958_959delinsCT	NP_733822.1:p.Leu320=
XM_011509533.1:c.622_623delinsCT	XP_011507835.1:p.Leu208=
XM_011509534.1:c.334_335delinsCT	XP_011507836.1:p.Leu112=
XR_921781.1:n.1247_1248delinsCT
XM_011509534.2:c.334_335delinsCT	XP_011507836.1:p.Leu112=
XR_921781.2:n.1245_1246delinsCT
NM_170707.4:c.958_959delinsCT MANE Select	NP_733821.1:p.Leu320=
NM_001257374.3:c.622_623delinsCT	NP_001244303.1:p.Leu208=
NM_001282626.2:c.958_959delinsCT	NP_001269555.1:p.Leu320=
NM_001282624.2:c.715_716delinsCT	NP_001269553.1:p.Leu239=
NM_001282625.2:c.958_959delinsCT	NP_001269554.1:p.Leu320=
NM_005572.4:c.958_959delinsCT MANE Plus Clinical	NP_005563.1:p.Leu320=
NM_170708.4:c.958_959delinsCT	NP_733822.1:p.Leu320=