Canonical Allele Identifier: CA1200472434

Gene: LMNA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156136048_156136049delinsCT , CM000663.2:g.156136048_156136049delinsCT	GRCh38
NC_000001.10:g.156105839_156105840delinsCT , CM000663.1:g.156105839_156105840delinsCT	GRCh37
NC_000001.9:g.154372463_154372464delinsCT	NCBI36
NG_008692.2:g.58476_58477delinsCT , LRG_254:g.58476_58477delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504687.7:c.526_527delinsCT	ENSP00000426535.3:p.Leu176=
ENST00000498722.3:n.316_317delinsCT
ENST00000682650.1:c.1084_1085delinsCT	ENSP00000506904.1:p.Leu362=
ENST00000683032.1:c.1084_1085delinsCT	ENSP00000506771.1:p.Leu362=
ENST00000684195.1:c.1084_1085delinsCT	ENSP00000508220.1:p.Leu362=
ENST00000361308.9:c.1084_1085delinsCT	ENSP00000355292.6:p.Leu362=
ENST00000368300.9:c.1084_1085delinsCT MANE Select	ENSP00000357283.4:p.Leu362=
ENST00000496738.6:n.1459_1460delinsCT
ENST00000674518.1:c.*434_*435delinsCT	ENSP00000502261.1:n.*434_*435delinsCT
ENST00000674600.1:c.*883_*884delinsCT	ENSP00000501666.1:n.*883_*884delinsCT
ENST00000674720.1:c.1084_1085delinsCT	ENSP00000502798.1:p.Leu362=
ENST00000675431.1:n.777_778delinsCT
ENST00000675455.1:c.*884_*885delinsCT	ENSP00000501795.1:n.*884_*885delinsCT
ENST00000675667.1:c.1084_1085delinsCT	ENSP00000501803.1:p.Leu362=
ENST00000675874.1:c.*555_*556delinsCT	ENSP00000501851.1:n.*555_*556delinsCT
ENST00000675881.1:c.*95_*96delinsCT	ENSP00000501670.1:n.*95_*96delinsCT
ENST00000675939.1:c.1084_1085delinsCT	ENSP00000502256.1:p.Leu362=
ENST00000675989.1:n.1459_1460delinsCT
ENST00000676208.1:c.*95_*96delinsCT	ENSP00000502468.1:n.*95_*96delinsCT
ENST00000676283.1:n.1459_1460delinsCT
ENST00000676385.2:c.1084_1085delinsCT	ENSP00000502091.1:p.Leu362=
ENST00000676434.1:c.*95_*96delinsCT	ENSP00000501648.1:n.*95_*96delinsCT
ENST00000677389.1:c.1084_1085delinsCT MANE Plus Clinical	ENSP00000503633.1:p.Leu362=
ENST00000347559.6:c.1084_1085delinsCT	ENSP00000292304.3:p.Leu362=
ENST00000361308.8:c.1084_1085delinsCT	ENSP00000355292.5:p.Leu362=
ENST00000368297.5:c.841_842delinsCT	ENSP00000357280.1:p.Leu281=
ENST00000368298.2:n.348_349delinsCT
ENST00000368299.7:c.1084_1085delinsCT	ENSP00000357282.3:p.Leu362=
ENST00000368300.8:c.1084_1085delinsCT	ENSP00000357283.4:p.Leu362=
ENST00000368301.6:c.1084_1085delinsCT	ENSP00000357284.2:p.Leu362=
ENST00000448611.6:c.748_749delinsCT	ENSP00000395597.2:p.Leu250=
ENST00000473598.6:c.787_788delinsCT	ENSP00000421821.1:p.Leu263=
ENST00000496738.5:n.469_470delinsCT
ENST00000498722.2:n.316_317delinsCT
NM_001257374.2:c.748_749delinsCT	NP_001244303.1:p.Leu250=
NM_001282624.1:c.841_842delinsCT	NP_001269553.1:p.Leu281=
NM_001282625.1:c.1084_1085delinsCT	NP_001269554.1:p.Leu362=
NM_001282626.1:c.1084_1085delinsCT	NP_001269555.1:p.Leu362=
NM_005572.3:c.1084_1085delinsCT , LRG_254t1:c.1084_1085delinsCT	NP_005563.1:p.Leu362=
NM_170707.3:c.1084_1085delinsCT	NP_733821.1:p.Leu362=
NM_170708.3:c.1084_1085delinsCT	NP_733822.1:p.Leu362=
XM_011509533.1:c.748_749delinsCT	XP_011507835.1:p.Leu250=
XM_011509534.1:c.460_461delinsCT	XP_011507836.1:p.Leu154=
XR_921781.1:n.1373_1374delinsCT
XM_011509534.2:c.460_461delinsCT	XP_011507836.1:p.Leu154=
XR_921781.2:n.1371_1372delinsCT
NM_170707.4:c.1084_1085delinsCT MANE Select	NP_733821.1:p.Leu362=
NM_001257374.3:c.748_749delinsCT	NP_001244303.1:p.Leu250=
NM_001282626.2:c.1084_1085delinsCT	NP_001269555.1:p.Leu362=
NM_001282624.2:c.841_842delinsCT	NP_001269553.1:p.Leu281=
NM_001282625.2:c.1084_1085delinsCT	NP_001269554.1:p.Leu362=
NM_005572.4:c.1084_1085delinsCT MANE Plus Clinical	NP_005563.1:p.Leu362=
NM_170708.4:c.1084_1085delinsCT	NP_733822.1:p.Leu362=