Canonical Allele Identifier: CA2586964194

Gene: LMNA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156135934del , CM000663.2:g.156135934del	GRCh38
NC_000001.10:g.156105725del , CM000663.1:g.156105725del	GRCh37
NC_000001.9:g.154372349del	NCBI36
NG_008692.2:g.58362del , LRG_254:g.58362del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504687.7:c.412del	ENSP00000426535.3:p.Glu138ArgfsTer?
ENST00000498722.3:n.202del
ENST00000682650.1:c.970del	ENSP00000506904.1:p.Glu324ArgfsTer?
ENST00000683032.1:c.970del	ENSP00000506771.1:p.Glu324ArgfsTer?
ENST00000684195.1:c.970del	ENSP00000508220.1:p.Glu324ArgfsTer?
ENST00000361308.9:c.970del	ENSP00000355292.6:p.Glu324ArgfsTer?
ENST00000368300.9:c.970del MANE Select	ENSP00000357283.4:p.Glu324ArgfsTer?
ENST00000496738.6:n.1345del
ENST00000674518.1:c.*320del	ENSP00000502261.1:n.*320del
ENST00000674600.1:c.*769del	ENSP00000501666.1:n.*769del
ENST00000674720.1:c.970del	ENSP00000502798.1:p.Glu324ArgfsTer?
ENST00000675431.1:n.663del
ENST00000675455.1:c.*770del	ENSP00000501795.1:n.*770del
ENST00000675667.1:c.970del	ENSP00000501803.1:p.Glu324ArgfsTer?
ENST00000675874.1:c.*441del	ENSP00000501851.1:n.*441del
ENST00000675881.1:c.1010del	ENSP00000501670.1:p.Gly337GlufsTer?
ENST00000675939.1:c.970del	ENSP00000502256.1:p.Glu324ArgfsTer?
ENST00000675989.1:n.1345del
ENST00000676208.1:c.1010del	ENSP00000502468.1:p.Gly337GlufsTer?
ENST00000676283.1:n.1345del
ENST00000676385.2:c.970del	ENSP00000502091.1:p.Glu324ArgfsTer?
ENST00000676434.1:c.1010del	ENSP00000501648.1:p.Gly337GlufsTer?
ENST00000677389.1:c.970del MANE Plus Clinical	ENSP00000503633.1:p.Glu324ArgfsTer?
ENST00000347559.6:c.970del	ENSP00000292304.3:p.Glu324ArgfsTer?
ENST00000361308.8:c.970del	ENSP00000355292.5:p.Glu324ArgfsTer?
ENST00000368297.5:c.727del	ENSP00000357280.1:p.Glu243ArgfsTer?
ENST00000368298.2:n.234del
ENST00000368299.7:c.970del	ENSP00000357282.3:p.Glu324ArgfsTer?
ENST00000368300.8:c.970del	ENSP00000357283.4:p.Glu324ArgfsTer?
ENST00000368301.6:c.970del	ENSP00000357284.2:p.Glu324ArgfsTer?
ENST00000448611.6:c.634del	ENSP00000395597.2:p.Glu212ArgfsTer?
ENST00000473598.6:c.673del	ENSP00000421821.1:p.Glu225ArgfsTer?
ENST00000496738.5:n.355del
ENST00000498722.2:n.202del
NM_001257374.2:c.634del	NP_001244303.1:p.Glu212ArgfsTer?
NM_001282624.1:c.727del	NP_001269553.1:p.Glu243ArgfsTer?
NM_001282625.1:c.970del	NP_001269554.1:p.Glu324ArgfsTer?
NM_001282626.1:c.970del	NP_001269555.1:p.Glu324ArgfsTer?
NM_005572.3:c.970del , LRG_254t1:c.970del	NP_005563.1:p.Glu324ArgfsTer?
NM_170707.3:c.970del	NP_733821.1:p.Glu324ArgfsTer?
NM_170708.3:c.970del	NP_733822.1:p.Glu324ArgfsTer?
XM_011509533.1:c.634del	XP_011507835.1:p.Glu212ArgfsTer?
XM_011509534.1:c.346del	XP_011507836.1:p.Glu116ArgfsTer?
XR_921781.1:n.1259del
XM_011509534.2:c.346del	XP_011507836.1:p.Glu116ArgfsTer?
XR_921781.2:n.1257del
NM_170707.4:c.970del MANE Select	NP_733821.1:p.Glu324ArgfsTer?
NM_001257374.3:c.634del	NP_001244303.1:p.Glu212ArgfsTer?
NM_001282626.2:c.970del	NP_001269555.1:p.Glu324ArgfsTer?
NM_001282624.2:c.727del	NP_001269553.1:p.Glu243ArgfsTer?
NM_001282625.2:c.970del	NP_001269554.1:p.Glu324ArgfsTer?
NM_005572.4:c.970del MANE Plus Clinical	NP_005563.1:p.Glu324ArgfsTer?
NM_170708.4:c.970del	NP_733822.1:p.Glu324ArgfsTer?