Canonical Allele Identifier: CA2586964271

Gene: LMNA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156137113_156137116dup , CM000663.2:g.156137113_156137116dup	GRCh38
NC_000001.10:g.156106904_156106907dup , CM000663.1:g.156106904_156106907dup	GRCh37
NC_000001.9:g.154373528_154373531dup	NCBI36
NG_008692.2:g.59541_59544dup , LRG_254:g.59541_59544dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000504687.7:c.931_934dup	ENSP00000426535.3:p.Trp312TyrfsTer?
ENST00000459904.2:n.737_740dup
ENST00000498722.3:n.721_724dup
ENST00000682650.1:c.1489_1492dup	ENSP00000506904.1:p.Trp498TyrfsTer?
ENST00000683032.1:c.1489_1492dup	ENSP00000506771.1:p.Trp498TyrfsTer?
ENST00000684195.1:c.1489_1492dup	ENSP00000508220.1:p.Trp498TyrfsTer?
ENST00000361308.9:c.1489_1492dup	ENSP00000355292.6:p.Trp498TyrfsTer?
ENST00000368300.9:c.1489_1492dup MANE Select	ENSP00000357283.4:p.Trp498TyrfsTer?
ENST00000496738.6:n.1948_1951dup
ENST00000674518.1:c.*839_*842dup	ENSP00000502261.1:n.*839_*842dup
ENST00000674600.1:c.*1288_*1291dup	ENSP00000501666.1:n.*1288_*1291dup
ENST00000674720.1:c.*51_*54dup	ENSP00000502798.1:n.*51_*54dup
ENST00000675431.1:n.1182_1185dup
ENST00000675455.1:c.*1289_*1292dup	ENSP00000501795.1:n.*1289_*1292dup
ENST00000675667.1:c.1489_1492dup	ENSP00000501803.1:p.Trp498TyrfsTer?
ENST00000675874.1:c.*960_*963dup	ENSP00000501851.1:n.*960_*963dup
ENST00000675881.1:c.*500_*503dup	ENSP00000501670.1:n.*500_*503dup
ENST00000675939.1:c.1489_1492dup	ENSP00000502256.1:p.Trp498TyrfsTer?
ENST00000675989.1:n.2348_2351dup
ENST00000676208.1:c.*592_*595dup	ENSP00000502468.1:n.*592_*595dup
ENST00000676283.1:n.1864_1867dup
ENST00000676385.2:c.1489_1492dup	ENSP00000502091.1:p.Trp498TyrfsTer?
ENST00000676434.1:c.*500_*503dup	ENSP00000501648.1:n.*500_*503dup
ENST00000677389.1:c.1489_1492dup MANE Plus Clinical	ENSP00000503633.1:p.Trp498TyrfsTer?
ENST00000347559.6:c.1489_1492dup	ENSP00000292304.3:p.Trp498TyrfsTer?
ENST00000361308.8:c.1312-78_1312-75dup	ENSP00000355292.5:n.1312-78_1312-75dup
ENST00000368297.5:c.1246_1249dup	ENSP00000357280.1:p.Trp417TyrfsTer?
ENST00000368298.2:n.1321_1324dup
ENST00000368299.7:c.1489_1492dup	ENSP00000357282.3:p.Trp498TyrfsTer?
ENST00000368300.8:c.1489_1492dup	ENSP00000357283.4:p.Trp498TyrfsTer?
ENST00000368301.6:c.1489_1492dup	ENSP00000357284.2:p.Trp498TyrfsTer?
ENST00000448611.6:c.1153_1156dup	ENSP00000395597.2:p.Trp386TyrfsTer?
ENST00000459904.1:n.737_740dup
ENST00000473598.6:c.1192_1195dup	ENSP00000421821.1:p.Trp399TyrfsTer?
ENST00000496738.5:n.958_961dup
ENST00000498722.2:n.721_724dup
ENST00000508500.1:c.367_370dup	ENSP00000424977.1:p.Trp124TyrfsTer?
NM_001257374.2:c.1153_1156dup	NP_001244303.1:p.Trp386TyrfsTer?
NM_001282624.1:c.1246_1249dup	NP_001269553.1:p.Trp417TyrfsTer?
NM_001282625.1:c.1489_1492dup	NP_001269554.1:p.Trp498TyrfsTer?
NM_001282626.1:c.1489_1492dup	NP_001269555.1:p.Trp498TyrfsTer?
NM_005572.3:c.1489_1492dup , LRG_254t1:c.1489_1492dup	NP_005563.1:p.Trp498TyrfsTer?
NM_170707.3:c.1489_1492dup	NP_733821.1:p.Trp498TyrfsTer?
NM_170708.3:c.1489_1492dup	NP_733822.1:p.Trp498TyrfsTer?
XM_011509533.1:c.1153_1156dup	XP_011507835.1:p.Trp386TyrfsTer?
XM_011509534.1:c.865_868dup	XP_011507836.1:p.Trp290TyrfsTer?
XR_921781.1:n.1778_1781dup
XM_011509534.2:c.865_868dup	XP_011507836.1:p.Trp290TyrfsTer?
XR_921781.2:n.1776_1779dup
NM_170707.4:c.1489_1492dup MANE Select	NP_733821.1:p.Trp498TyrfsTer?
NM_001257374.3:c.1153_1156dup	NP_001244303.1:p.Trp386TyrfsTer?
NM_001282626.2:c.1489_1492dup	NP_001269555.1:p.Trp498TyrfsTer?
NM_001282624.2:c.1246_1249dup	NP_001269553.1:p.Trp417TyrfsTer?
NM_001282625.2:c.1489_1492dup	NP_001269554.1:p.Trp498TyrfsTer?
NM_005572.4:c.1489_1492dup MANE Plus Clinical	NP_005563.1:p.Trp498TyrfsTer?
NM_170708.4:c.1489_1492dup	NP_733822.1:p.Trp498TyrfsTer?