Canonical Allele Identifier: CA1200467466

Gene: LMNA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156130623_156130626delinsCAAG , CM000663.2:g.156130623_156130626delinsCAAG	GRCh38
NC_000001.10:g.156100414_156100417delinsCAAG , CM000663.1:g.156100414_156100417delinsCAAG	GRCh37
NC_000001.9:g.154367038_154367041delinsCAAG	NCBI36
NG_008692.2:g.53051_53054delinsCAAG , LRG_254:g.53051_53054delinsCAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504687.7:c.-196_-193delinsCAAG	ENSP00000426535.3:n.-196_-193delinsCAAG
ENST00000682650.1:c.363_366delinsCAAG	ENSP00000506904.1:p.Thr121=
ENST00000683032.1:c.363_366delinsCAAG	ENSP00000506771.1:p.Thr121=
ENST00000684195.1:c.363_366delinsCAAG	ENSP00000508220.1:p.Thr121=
ENST00000361308.9:c.363_366delinsCAAG	ENSP00000355292.6:p.Thr121=
ENST00000368300.9:c.363_366delinsCAAG MANE Select	ENSP00000357283.4:p.Thr121=
ENST00000496738.6:n.738_741delinsCAAG
ENST00000504687.6:c.-302_-299delinsCAAG	ENSP00000426535.2:n.-302_-299delinsCAAG
ENST00000674518.1:c.363_366delinsCAAG	ENSP00000502261.1:p.Thr121=
ENST00000674600.1:c.*162_*165delinsCAAG	ENSP00000501666.1:n.*162_*165delinsCAAG
ENST00000674720.1:c.363_366delinsCAAG	ENSP00000502798.1:p.Thr121=
ENST00000675431.1:n.56_59delinsCAAG
ENST00000675455.1:c.*163_*166delinsCAAG	ENSP00000501795.1:n.*163_*166delinsCAAG
ENST00000675667.1:c.363_366delinsCAAG	ENSP00000501803.1:p.Thr121=
ENST00000675874.1:c.357-3780_357-3777delinsCAAG	ENSP00000501851.1:n.357-3780_357-3777delinsCAAG
ENST00000675881.1:c.363_366delinsCAAG	ENSP00000501670.1:p.Thr121=
ENST00000675939.1:c.363_366delinsCAAG	ENSP00000502256.1:p.Thr121=
ENST00000675989.1:n.738_741delinsCAAG
ENST00000676208.1:c.363_366delinsCAAG	ENSP00000502468.1:p.Thr121=
ENST00000676283.1:n.738_741delinsCAAG
ENST00000676385.2:c.363_366delinsCAAG	ENSP00000502091.1:p.Thr121=
ENST00000676434.1:c.363_366delinsCAAG	ENSP00000501648.1:p.Thr121=
ENST00000677389.1:c.363_366delinsCAAG MANE Plus Clinical	ENSP00000503633.1:p.Thr121=
ENST00000347559.6:c.363_366delinsCAAG	ENSP00000292304.3:p.Thr121=
ENST00000361308.8:c.363_366delinsCAAG	ENSP00000355292.5:p.Thr121=
ENST00000368297.5:c.120_123delinsCAAG	ENSP00000357280.1:p.Thr40=
ENST00000368299.7:c.363_366delinsCAAG	ENSP00000357282.3:p.Thr121=
ENST00000368300.8:c.363_366delinsCAAG	ENSP00000357283.4:p.Thr121=
ENST00000368301.6:c.363_366delinsCAAG	ENSP00000357284.2:p.Thr121=
ENST00000448611.6:c.27_30delinsCAAG	ENSP00000395597.2:p.Thr9=
ENST00000469565.6:n.397_400delinsCAAG
ENST00000470199.2:n.357-52_357-49delinsCAAG
ENST00000473598.6:c.66_69delinsCAAG	ENSP00000421821.1:p.Thr22=
ENST00000502357.5:n.261_264delinsCAAG
ENST00000502751.5:n.335_338delinsCAAG
ENST00000504687.5:c.114_117delinsCAAG	ENSP00000426535.1:p.Thr38=
ENST00000515459.5:c.*37_*40delinsCAAG	ENSP00000424518.1:n.*37_*40delinsCAAG
NM_001257374.2:c.27_30delinsCAAG	NP_001244303.1:p.Thr9=
NM_001282624.1:c.120_123delinsCAAG	NP_001269553.1:p.Thr40=
NM_001282625.1:c.363_366delinsCAAG	NP_001269554.1:p.Thr121=
NM_001282626.1:c.363_366delinsCAAG	NP_001269555.1:p.Thr121=
NM_005572.3:c.363_366delinsCAAG , LRG_254t1:c.363_366delinsCAAG	NP_005563.1:p.Thr121=
NM_170707.3:c.363_366delinsCAAG	NP_733821.1:p.Thr121=
NM_170708.3:c.363_366delinsCAAG	NP_733822.1:p.Thr121=
XM_011509533.1:c.27_30delinsCAAG	XP_011507835.1:p.Thr9=
XM_011509534.1:c.-302_-299delinsCAAG	XP_011507836.1:n.-302_-299delinsCAAG
XR_921781.1:n.612_615delinsCAAG
XM_011509534.2:c.-302_-299delinsCAAG	XP_011507836.1:n.-302_-299delinsCAAG
XR_921781.2:n.610_613delinsCAAG
NM_170707.4:c.363_366delinsCAAG MANE Select	NP_733821.1:p.Thr121=
NM_001257374.3:c.27_30delinsCAAG	NP_001244303.1:p.Thr9=
NM_001282626.2:c.363_366delinsCAAG	NP_001269555.1:p.Thr121=
NM_001282624.2:c.120_123delinsCAAG	NP_001269553.1:p.Thr40=
NM_001282625.2:c.363_366delinsCAAG	NP_001269554.1:p.Thr121=
NM_005572.4:c.363_366delinsCAAG MANE Plus Clinical	NP_005563.1:p.Thr121=
NM_170708.4:c.363_366delinsCAAG	NP_733822.1:p.Thr121=