Canonical Allele Identifier: CA1200472387

Gene: LMNA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156135921_156135922delinsGC , CM000663.2:g.156135921_156135922delinsGC	GRCh38
NC_000001.10:g.156105712_156105713delinsGC , CM000663.1:g.156105712_156105713delinsGC	GRCh37
NC_000001.9:g.154372336_154372337delinsGC	NCBI36
NG_008692.2:g.58349_58350delinsGC , LRG_254:g.58349_58350delinsGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000504687.7:c.399_400delinsGC	ENSP00000426535.3:p.Lys133=
ENST00000498722.3:n.189_190delinsGC
ENST00000682650.1:c.957_958delinsGC	ENSP00000506904.1:p.Lys319=
ENST00000683032.1:c.957_958delinsGC	ENSP00000506771.1:p.Lys319=
ENST00000684195.1:c.957_958delinsGC	ENSP00000508220.1:p.Lys319=
ENST00000361308.9:c.957_958delinsGC	ENSP00000355292.6:p.Lys319=
ENST00000368300.9:c.957_958delinsGC MANE Select	ENSP00000357283.4:p.Lys319=
ENST00000496738.6:n.1332_1333delinsGC
ENST00000674518.1:c.*307_*308delinsGC	ENSP00000502261.1:n.*307_*308delinsGC
ENST00000674600.1:c.*756_*757delinsGC	ENSP00000501666.1:n.*756_*757delinsGC
ENST00000674720.1:c.957_958delinsGC	ENSP00000502798.1:p.Lys319=
ENST00000675431.1:n.650_651delinsGC
ENST00000675455.1:c.*757_*758delinsGC	ENSP00000501795.1:n.*757_*758delinsGC
ENST00000675667.1:c.957_958delinsGC	ENSP00000501803.1:p.Lys319=
ENST00000675874.1:c.*428_*429delinsGC	ENSP00000501851.1:n.*428_*429delinsGC
ENST00000675881.1:c.997_998delinsGC	ENSP00000501670.1:p.Ala333=
ENST00000675939.1:c.957_958delinsGC	ENSP00000502256.1:p.Lys319=
ENST00000675989.1:n.1332_1333delinsGC
ENST00000676208.1:c.997_998delinsGC	ENSP00000502468.1:p.Ala333=
ENST00000676283.1:n.1332_1333delinsGC
ENST00000676385.2:c.957_958delinsGC	ENSP00000502091.1:p.Lys319=
ENST00000676434.1:c.997_998delinsGC	ENSP00000501648.1:p.Ala333=
ENST00000677389.1:c.957_958delinsGC MANE Plus Clinical	ENSP00000503633.1:p.Lys319=
ENST00000347559.6:c.957_958delinsGC	ENSP00000292304.3:p.Lys319=
ENST00000361308.8:c.957_958delinsGC	ENSP00000355292.5:p.Lys319=
ENST00000368297.5:c.714_715delinsGC	ENSP00000357280.1:p.Lys238=
ENST00000368298.2:n.221_222delinsGC
ENST00000368299.7:c.957_958delinsGC	ENSP00000357282.3:p.Lys319=
ENST00000368300.8:c.957_958delinsGC	ENSP00000357283.4:p.Lys319=
ENST00000368301.6:c.957_958delinsGC	ENSP00000357284.2:p.Lys319=
ENST00000448611.6:c.621_622delinsGC	ENSP00000395597.2:p.Lys207=
ENST00000473598.6:c.660_661delinsGC	ENSP00000421821.1:p.Lys220=
ENST00000496738.5:n.342_343delinsGC
ENST00000498722.2:n.189_190delinsGC
NM_001257374.2:c.621_622delinsGC	NP_001244303.1:p.Lys207=
NM_001282624.1:c.714_715delinsGC	NP_001269553.1:p.Lys238=
NM_001282625.1:c.957_958delinsGC	NP_001269554.1:p.Lys319=
NM_001282626.1:c.957_958delinsGC	NP_001269555.1:p.Lys319=
NM_005572.3:c.957_958delinsGC , LRG_254t1:c.957_958delinsGC	NP_005563.1:p.Lys319=
NM_170707.3:c.957_958delinsGC	NP_733821.1:p.Lys319=
NM_170708.3:c.957_958delinsGC	NP_733822.1:p.Lys319=
XM_011509533.1:c.621_622delinsGC	XP_011507835.1:p.Lys207=
XM_011509534.1:c.333_334delinsGC	XP_011507836.1:p.Lys111=
XR_921781.1:n.1246_1247delinsGC
XM_011509534.2:c.333_334delinsGC	XP_011507836.1:p.Lys111=
XR_921781.2:n.1244_1245delinsGC
NM_170707.4:c.957_958delinsGC MANE Select	NP_733821.1:p.Lys319=
NM_001257374.3:c.621_622delinsGC	NP_001244303.1:p.Lys207=
NM_001282626.2:c.957_958delinsGC	NP_001269555.1:p.Lys319=
NM_001282624.2:c.714_715delinsGC	NP_001269553.1:p.Lys238=
NM_001282625.2:c.957_958delinsGC	NP_001269554.1:p.Lys319=
NM_005572.4:c.957_958delinsGC MANE Plus Clinical	NP_005563.1:p.Lys319=
NM_170708.4:c.957_958delinsGC	NP_733822.1:p.Lys319=