Canonical Allele Identifier: CA1140705917

Gene: LMNA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156137117_156137119delinsGGG , CM000663.2:g.156137117_156137119delinsGGG	GRCh38
NC_000001.10:g.156106908_156106910delinsGGG , CM000663.1:g.156106908_156106910delinsGGG	GRCh37
NC_000001.9:g.154373532_154373534delinsGGG	NCBI36
NG_008692.2:g.59545_59547delinsGGG , LRG_254:g.59545_59547delinsGGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000504687.7:c.935_937delinsGGG	ENSP00000426535.3:p.Trp312=
ENST00000459904.2:n.741_743delinsGGG
ENST00000498722.3:n.725_727delinsGGG
ENST00000682650.1:c.1493_1495delinsGGG	ENSP00000506904.1:p.Trp498=
ENST00000683032.1:c.1493_1495delinsGGG	ENSP00000506771.1:p.Trp498=
ENST00000684195.1:c.1493_1495delinsGGG	ENSP00000508220.1:p.Trp498=
ENST00000361308.9:c.1493_1495delinsGGG	ENSP00000355292.6:p.Trp498=
ENST00000368300.9:c.1493_1495delinsGGG MANE Select	ENSP00000357283.4:p.Trp498=
ENST00000496738.6:n.1952_1954delinsGGG
ENST00000674518.1:c.*843_*845delinsGGG	ENSP00000502261.1:n.*843_*845delinsGGG
ENST00000674600.1:c.*1292_*1294delinsGGG	ENSP00000501666.1:n.*1292_*1294delinsGGG
ENST00000674720.1:c.*55_*57delinsGGG	ENSP00000502798.1:n.*55_*57delinsGGG
ENST00000675431.1:n.1186_1188delinsGGG
ENST00000675455.1:c.*1293_*1295delinsGGG	ENSP00000501795.1:n.*1293_*1295delinsGGG
ENST00000675667.1:c.1493_1495delinsGGG	ENSP00000501803.1:p.Trp498=
ENST00000675874.1:c.*964_*966delinsGGG	ENSP00000501851.1:n.*964_*966delinsGGG
ENST00000675881.1:c.*504_*506delinsGGG	ENSP00000501670.1:n.*504_*506delinsGGG
ENST00000675939.1:c.1493_1495delinsGGG	ENSP00000502256.1:p.Trp498=
ENST00000675989.1:n.2352_2354delinsGGG
ENST00000676208.1:c.*596_*598delinsGGG	ENSP00000502468.1:n.*596_*598delinsGGG
ENST00000676283.1:n.1868_1870delinsGGG
ENST00000676385.2:c.1493_1495delinsGGG	ENSP00000502091.1:p.Trp498=
ENST00000676434.1:c.*504_*506delinsGGG	ENSP00000501648.1:n.*504_*506delinsGGG
ENST00000677389.1:c.1493_1495delinsGGG MANE Plus Clinical	ENSP00000503633.1:p.Trp498=
ENST00000347559.6:c.1493_1495delinsGGG	ENSP00000292304.3:p.Trp498=
ENST00000361308.8:c.1312-74_1312-72delinsGGG	ENSP00000355292.5:n.1312-74_1312-72delins...
ENST00000368297.5:c.1250_1252delinsGGG	ENSP00000357280.1:p.Trp417=
ENST00000368298.2:n.1325_1327delinsGGG
ENST00000368299.7:c.1493_1495delinsGGG	ENSP00000357282.3:p.Trp498=
ENST00000368300.8:c.1493_1495delinsGGG	ENSP00000357283.4:p.Trp498=
ENST00000368301.6:c.1493_1495delinsGGG	ENSP00000357284.2:p.Trp498=
ENST00000448611.6:c.1157_1159delinsGGG	ENSP00000395597.2:p.Trp386=
ENST00000459904.1:n.741_743delinsGGG
ENST00000473598.6:c.1196_1198delinsGGG	ENSP00000421821.1:p.Trp399=
ENST00000496738.5:n.962_964delinsGGG
ENST00000498722.2:n.725_727delinsGGG
ENST00000508500.1:c.371_373delinsGGG	ENSP00000424977.1:p.Trp124=
NM_001257374.2:c.1157_1159delinsGGG	NP_001244303.1:p.Trp386=
NM_001282624.1:c.1250_1252delinsGGG	NP_001269553.1:p.Trp417=
NM_001282625.1:c.1493_1495delinsGGG	NP_001269554.1:p.Trp498=
NM_001282626.1:c.1493_1495delinsGGG	NP_001269555.1:p.Trp498=
NM_005572.3:c.1493_1495delinsGGG , LRG_254t1:c.1493_1495delinsGGG	NP_005563.1:p.Trp498=
NM_170707.3:c.1493_1495delinsGGG	NP_733821.1:p.Trp498=
NM_170708.3:c.1493_1495delinsGGG	NP_733822.1:p.Trp498=
XM_011509533.1:c.1157_1159delinsGGG	XP_011507835.1:p.Trp386=
XM_011509534.1:c.869_871delinsGGG	XP_011507836.1:p.Trp290=
XR_921781.1:n.1782_1784delinsGGG
XM_011509534.2:c.869_871delinsGGG	XP_011507836.1:p.Trp290=
XR_921781.2:n.1780_1782delinsGGG
NM_170707.4:c.1493_1495delinsGGG MANE Select	NP_733821.1:p.Trp498=
NM_001257374.3:c.1157_1159delinsGGG	NP_001244303.1:p.Trp386=
NM_001282626.2:c.1493_1495delinsGGG	NP_001269555.1:p.Trp498=
NM_001282624.2:c.1250_1252delinsGGG	NP_001269553.1:p.Trp417=
NM_001282625.2:c.1493_1495delinsGGG	NP_001269554.1:p.Trp498=
NM_005572.4:c.1493_1495delinsGGG MANE Plus Clinical	NP_005563.1:p.Trp498=
NM_170708.4:c.1493_1495delinsGGG	NP_733822.1:p.Trp498=