Canonical Allele Identifier: CA1143707282

Gene: LMNA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156137755_156137756delinsCC , CM000663.2:g.156137755_156137756delinsCC	GRCh38
NC_000001.10:g.156107546_156107547delinsCC , CM000663.1:g.156107546_156107547delinsCC	GRCh37
NC_000001.9:g.154374170_154374171delinsCC	NCBI36
NG_008692.2:g.60183_60184delinsCC , LRG_254:g.60183_60184delinsCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504687.7:c.1140+12_1140+13delinsCC	ENSP00000426535.3:n.1140+12_1140+13delinsCC
ENST00000498722.3:n.942_943delinsCC
ENST00000682650.1:c.1608+523_1608+524delinsCC	ENSP00000506904.1:n.1608+523_1608+524delinsCC
ENST00000683032.1:c.1698+12_1698+13delinsCC	ENSP00000506771.1:n.1698+12_1698+13delinsCC
ENST00000683773.1:n.43+12_43+13delinsCC
ENST00000684195.1:c.*58_*59delinsCC	ENSP00000508220.1:n.*58_*59delinsCC
ENST00000361308.9:c.1698+12_1698+13delinsCC	ENSP00000355292.6:n.1698+12_1698+13delinsCC
ENST00000368300.9:c.1698+12_1698+13delinsCC MANE Select	ENSP00000357283.4:n.1698+12_1698+13delinsCC
ENST00000496738.6:n.2169_2170delinsCC
ENST00000674518.1:c.*1048+12_*1048+13delinsCC	ENSP00000502261.1:n.*1048+12_*1048+13delinsCC
ENST00000674600.1:c.*1497+12_*1497+13delinsCC	ENSP00000501666.1:n.*1497+12_*1497+13delinsCC
ENST00000674720.1:c.*272_*273delinsCC	ENSP00000502798.1:n.*272_*273delinsCC
ENST00000675431.1:n.1403_1404delinsCC
ENST00000675455.1:c.*1498+12_*1498+13delinsCC	ENSP00000501795.1:n.*1498+12_*1498+13delinsCC
ENST00000675667.1:c.1698+12_1698+13delinsCC	ENSP00000501803.1:n.1698+12_1698+13delinsCC
ENST00000675874.1:c.*1169+12_*1169+13delinsCC	ENSP00000501851.1:n.*1169+12_*1169+13delinsCC
ENST00000675881.1:c.*709+12_*709+13delinsCC	ENSP00000501670.1:n.*709+12_*709+13delinsCC
ENST00000675939.1:c.1698+12_1698+13delinsCC	ENSP00000502256.1:n.1698+12_1698+13delinsCC
ENST00000675989.1:n.2569_2570delinsCC
ENST00000676208.1:c.*801+12_*801+13delinsCC	ENSP00000502468.1:n.*801+12_*801+13delinsCC
ENST00000676283.1:n.2506_2507delinsCC
ENST00000676385.2:c.1608+523_1608+524delinsCC	ENSP00000502091.1:n.1608+523_1608+524delinsCC
ENST00000676434.1:c.*721_*722delinsCC	ENSP00000501648.1:n.*721_*722delinsCC
ENST00000677389.1:c.1710_1711delinsCC MANE Plus Clinical	ENSP00000503633.1:p.Ser570=
ENST00000347559.6:c.1608+523_1608+524delinsCC	ENSP00000292304.3:n.1608+523_1608+524delinsCC
ENST00000361308.8:c.1455_1456delinsCC	ENSP00000355292.5:p.Ser485=
ENST00000368297.5:c.1467_1468delinsCC	ENSP00000357280.1:p.Ser489=
ENST00000368299.7:c.1698+12_1698+13delinsCC	ENSP00000357282.3:n.1698+12_1698+13delinsCC
ENST00000368300.8:c.1698+12_1698+13delinsCC	ENSP00000357283.4:n.1698+12_1698+13delinsCC
ENST00000368301.6:c.1710_1711delinsCC	ENSP00000357284.2:p.Ser570=
ENST00000448611.6:c.1362+12_1362+13delinsCC	ENSP00000395597.2:n.1362+12_1362+13delinsCC
ENST00000473598.6:c.1401+12_1401+13delinsCC	ENSP00000421821.1:n.1401+12_1401+13delinsCC
ENST00000496738.5:n.1179_1180delinsCC
ENST00000498722.2:n.942_943delinsCC
ENST00000506981.1:n.282+12_282+13delinsCC
ENST00000508500.1:c.486+523_486+524delinsCC	ENSP00000424977.1:n.486+523_486+524delinsCC
NM_001257374.2:c.1362+12_1362+13delinsCC	NP_001244303.1:n.1362+12_1362+13delinsCC
NM_001282624.1:c.1467_1468delinsCC	NP_001269553.1:p.Ser489=
NM_001282625.1:c.1710_1711delinsCC	NP_001269554.1:p.Ser570=
NM_001282626.1:c.1698+12_1698+13delinsCC	NP_001269555.1:n.1698+12_1698+13delinsCC
NM_005572.3:c.1710_1711delinsCC , LRG_254t1:c.1710_1711delinsCC	NP_005563.1:p.Ser570=
NM_170707.3:c.1698+12_1698+13delinsCC	NP_733821.1:n.1698+12_1698+13delinsCC
NM_170708.3:c.1608+523_1608+524delinsCC	NP_733822.1:n.1608+523_1608+524delinsCC
XM_011509533.1:c.1362+12_1362+13delinsCC	XP_011507835.1:n.1362+12_1362+13delinsCC
XM_011509534.1:c.1074+12_1074+13delinsCC	XP_011507836.1:n.1074+12_1074+13delinsCC
XR_921781.1:n.1987+12_1987+13delinsCC
XM_011509534.2:c.1074+12_1074+13delinsCC	XP_011507836.1:n.1074+12_1074+13delinsCC
XR_921781.2:n.1985+12_1985+13delinsCC
NM_170707.4:c.1698+12_1698+13delinsCC MANE Select	NP_733821.1:n.1698+12_1698+13delinsCC
NM_001257374.3:c.1362+12_1362+13delinsCC	NP_001244303.1:n.1362+12_1362+13delinsCC
NM_001282626.2:c.1698+12_1698+13delinsCC	NP_001269555.1:n.1698+12_1698+13delinsCC
NM_001282624.2:c.1467_1468delinsCC	NP_001269553.1:p.Ser489=
NM_001282625.2:c.1710_1711delinsCC	NP_001269554.1:p.Ser570=
NM_005572.4:c.1710_1711delinsCC MANE Plus Clinical	NP_005563.1:p.Ser570=
NM_170708.4:c.1608+523_1608+524delinsCC	NP_733822.1:n.1608+523_1608+524delinsCC