Canonical Allele Identifier: CA1200472931

Gene: LMNA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156137223_156137224delinsCA , CM000663.2:g.156137223_156137224delinsCA	GRCh38
NC_000001.10:g.156107014_156107015delinsCA , CM000663.1:g.156107014_156107015delinsCA	GRCh37
NC_000001.9:g.154373638_154373639delinsCA	NCBI36
NG_008692.2:g.59651_59652delinsCA , LRG_254:g.59651_59652delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504687.7:c.1041_1042delinsCA	ENSP00000426535.3:p.Ser347=
ENST00000459904.2:n.847_848delinsCA
ENST00000498722.3:n.831_832delinsCA
ENST00000682650.1:c.1599_1600delinsCA	ENSP00000506904.1:p.Ser533=
ENST00000683032.1:c.1599_1600delinsCA	ENSP00000506771.1:p.Ser533=
ENST00000684195.1:c.1579+20_1579+21delinsCA	ENSP00000508220.1:n.1579+20_1579+21delinsCA
ENST00000361308.9:c.1599_1600delinsCA	ENSP00000355292.6:p.Ser533=
ENST00000368300.9:c.1599_1600delinsCA MANE Select	ENSP00000357283.4:p.Ser533=
ENST00000496738.6:n.2058_2059delinsCA
ENST00000674518.1:c.*949_*950delinsCA	ENSP00000502261.1:n.*949_*950delinsCA
ENST00000674600.1:c.*1398_*1399delinsCA	ENSP00000501666.1:n.*1398_*1399delinsCA
ENST00000674720.1:c.*161_*162delinsCA	ENSP00000502798.1:n.*161_*162delinsCA
ENST00000675431.1:n.1292_1293delinsCA
ENST00000675455.1:c.*1399_*1400delinsCA	ENSP00000501795.1:n.*1399_*1400delinsCA
ENST00000675667.1:c.1599_1600delinsCA	ENSP00000501803.1:p.Ser533=
ENST00000675874.1:c.*1070_*1071delinsCA	ENSP00000501851.1:n.*1070_*1071delinsCA
ENST00000675881.1:c.*610_*611delinsCA	ENSP00000501670.1:n.*610_*611delinsCA
ENST00000675939.1:c.1599_1600delinsCA	ENSP00000502256.1:p.Ser533=
ENST00000675989.1:n.2458_2459delinsCA
ENST00000676208.1:c.*702_*703delinsCA	ENSP00000502468.1:n.*702_*703delinsCA
ENST00000676283.1:n.1974_1975delinsCA
ENST00000676385.2:c.1599_1600delinsCA	ENSP00000502091.1:p.Ser533=
ENST00000676434.1:c.*610_*611delinsCA	ENSP00000501648.1:n.*610_*611delinsCA
ENST00000677389.1:c.1599_1600delinsCA MANE Plus Clinical	ENSP00000503633.1:p.Ser533=
ENST00000347559.6:c.1599_1600delinsCA	ENSP00000292304.3:p.Ser533=
ENST00000361308.8:c.1344_1345delinsCA	ENSP00000355292.5:p.Ser448=
ENST00000368297.5:c.1356_1357delinsCA	ENSP00000357280.1:p.Ser452=
ENST00000368298.2:n.1431_1432delinsCA
ENST00000368299.7:c.1599_1600delinsCA	ENSP00000357282.3:p.Ser533=
ENST00000368300.8:c.1599_1600delinsCA	ENSP00000357283.4:p.Ser533=
ENST00000368301.6:c.1599_1600delinsCA	ENSP00000357284.2:p.Ser533=
ENST00000448611.6:c.1263_1264delinsCA	ENSP00000395597.2:p.Ser421=
ENST00000459904.1:n.847_848delinsCA
ENST00000473598.6:c.1302_1303delinsCA	ENSP00000421821.1:p.Ser434=
ENST00000496738.5:n.1068_1069delinsCA
ENST00000498722.2:n.831_832delinsCA
ENST00000508500.1:c.477_478delinsCA	ENSP00000424977.1:p.Ser159=
NM_001257374.2:c.1263_1264delinsCA	NP_001244303.1:p.Ser421=
NM_001282624.1:c.1356_1357delinsCA	NP_001269553.1:p.Ser452=
NM_001282625.1:c.1599_1600delinsCA	NP_001269554.1:p.Ser533=
NM_001282626.1:c.1599_1600delinsCA	NP_001269555.1:p.Ser533=
NM_005572.3:c.1599_1600delinsCA , LRG_254t1:c.1599_1600delinsCA	NP_005563.1:p.Ser533=
NM_170707.3:c.1599_1600delinsCA	NP_733821.1:p.Ser533=
NM_170708.3:c.1599_1600delinsCA	NP_733822.1:p.Ser533=
XM_011509533.1:c.1263_1264delinsCA	XP_011507835.1:p.Ser421=
XM_011509534.1:c.975_976delinsCA	XP_011507836.1:p.Ser325=
XR_921781.1:n.1888_1889delinsCA
XM_011509534.2:c.975_976delinsCA	XP_011507836.1:p.Ser325=
XR_921781.2:n.1886_1887delinsCA
NM_170707.4:c.1599_1600delinsCA MANE Select	NP_733821.1:p.Ser533=
NM_001257374.3:c.1263_1264delinsCA	NP_001244303.1:p.Ser421=
NM_001282626.2:c.1599_1600delinsCA	NP_001269555.1:p.Ser533=
NM_001282624.2:c.1356_1357delinsCA	NP_001269553.1:p.Ser452=
NM_001282625.2:c.1599_1600delinsCA	NP_001269554.1:p.Ser533=
NM_005572.4:c.1599_1600delinsCA MANE Plus Clinical	NP_005563.1:p.Ser533=
NM_170708.4:c.1599_1600delinsCA	NP_733822.1:p.Ser533=