Canonical Allele Identifier: CA1200472404

Gene: LMNA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156135953_156135955delinsAGC , CM000663.2:g.156135953_156135955delinsAGC	GRCh38
NC_000001.10:g.156105744_156105746delinsAGC , CM000663.1:g.156105744_156105746delinsAGC	GRCh37
NC_000001.9:g.154372368_154372370delinsAGC	NCBI36
NG_008692.2:g.58381_58383delinsAGC , LRG_254:g.58381_58383delinsAGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000504687.7:c.431_433delinsAGC	ENSP00000426535.3:p.Glu144=
ENST00000498722.3:n.221_223delinsAGC
ENST00000682650.1:c.989_991delinsAGC	ENSP00000506904.1:p.Glu330=
ENST00000683032.1:c.989_991delinsAGC	ENSP00000506771.1:p.Glu330=
ENST00000684195.1:c.989_991delinsAGC	ENSP00000508220.1:p.Glu330=
ENST00000361308.9:c.989_991delinsAGC	ENSP00000355292.6:p.Glu330=
ENST00000368300.9:c.989_991delinsAGC MANE Select	ENSP00000357283.4:p.Glu330=
ENST00000496738.6:n.1364_1366delinsAGC
ENST00000674518.1:c.*339_*341delinsAGC	ENSP00000502261.1:n.*339_*341delinsAGC
ENST00000674600.1:c.*788_*790delinsAGC	ENSP00000501666.1:n.*788_*790delinsAGC
ENST00000674720.1:c.989_991delinsAGC	ENSP00000502798.1:p.Glu330=
ENST00000675431.1:n.682_684delinsAGC
ENST00000675455.1:c.*789_*791delinsAGC	ENSP00000501795.1:n.*789_*791delinsAGC
ENST00000675667.1:c.989_991delinsAGC	ENSP00000501803.1:p.Glu330=
ENST00000675874.1:c.*460_*462delinsAGC	ENSP00000501851.1:n.*460_*462delinsAGC
ENST00000675881.1:c.1029_*2delinsAGC	ENSP00000501670.1:n.[c.1029_*2delinsAGC;Ter343=]
ENST00000675939.1:c.989_991delinsAGC	ENSP00000502256.1:p.Glu330=
ENST00000675989.1:n.1364_1366delinsAGC
ENST00000676208.1:c.1029_*2delinsAGC	ENSP00000502468.1:n.[c.1029_*2delinsAGC;Ter343=]
ENST00000676283.1:n.1364_1366delinsAGC
ENST00000676385.2:c.989_991delinsAGC	ENSP00000502091.1:p.Glu330=
ENST00000676434.1:c.1029_*2delinsAGC	ENSP00000501648.1:n.[c.1029_*2delinsAGC;Ter343=]
ENST00000677389.1:c.989_991delinsAGC MANE Plus Clinical	ENSP00000503633.1:p.Glu330=
ENST00000347559.6:c.989_991delinsAGC	ENSP00000292304.3:p.Glu330=
ENST00000361308.8:c.989_991delinsAGC	ENSP00000355292.5:p.Glu330=
ENST00000368297.5:c.746_748delinsAGC	ENSP00000357280.1:p.Glu249=
ENST00000368298.2:n.253_255delinsAGC
ENST00000368299.7:c.989_991delinsAGC	ENSP00000357282.3:p.Glu330=
ENST00000368300.8:c.989_991delinsAGC	ENSP00000357283.4:p.Glu330=
ENST00000368301.6:c.989_991delinsAGC	ENSP00000357284.2:p.Glu330=
ENST00000448611.6:c.653_655delinsAGC	ENSP00000395597.2:p.Glu218=
ENST00000473598.6:c.692_694delinsAGC	ENSP00000421821.1:p.Glu231=
ENST00000496738.5:n.374_376delinsAGC
ENST00000498722.2:n.221_223delinsAGC
NM_001257374.2:c.653_655delinsAGC	NP_001244303.1:p.Glu218=
NM_001282624.1:c.746_748delinsAGC	NP_001269553.1:p.Glu249=
NM_001282625.1:c.989_991delinsAGC	NP_001269554.1:p.Glu330=
NM_001282626.1:c.989_991delinsAGC	NP_001269555.1:p.Glu330=
NM_005572.3:c.989_991delinsAGC , LRG_254t1:c.989_991delinsAGC	NP_005563.1:p.Glu330=
NM_170707.3:c.989_991delinsAGC	NP_733821.1:p.Glu330=
NM_170708.3:c.989_991delinsAGC	NP_733822.1:p.Glu330=
XM_011509533.1:c.653_655delinsAGC	XP_011507835.1:p.Glu218=
XM_011509534.1:c.365_367delinsAGC	XP_011507836.1:p.Glu122=
XR_921781.1:n.1278_1280delinsAGC
XM_011509534.2:c.365_367delinsAGC	XP_011507836.1:p.Glu122=
XR_921781.2:n.1276_1278delinsAGC
NM_170707.4:c.989_991delinsAGC MANE Select	NP_733821.1:p.Glu330=
NM_001257374.3:c.653_655delinsAGC	NP_001244303.1:p.Glu218=
NM_001282626.2:c.989_991delinsAGC	NP_001269555.1:p.Glu330=
NM_001282624.2:c.746_748delinsAGC	NP_001269553.1:p.Glu249=
NM_001282625.2:c.989_991delinsAGC	NP_001269554.1:p.Glu330=
NM_005572.4:c.989_991delinsAGC MANE Plus Clinical	NP_005563.1:p.Glu330=
NM_170708.4:c.989_991delinsAGC	NP_733822.1:p.Glu330=