Canonical Allele Identifier: CA2586964231

Gene: LMNA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156136257_156136261del , CM000663.2:g.156136257_156136261del	GRCh38
NC_000001.10:g.156106048_156106052del , CM000663.1:g.156106048_156106052del	GRCh37
NC_000001.9:g.154372672_154372676del	NCBI36
NG_008692.2:g.58685_58689del , LRG_254:g.58685_58689del

Transcript Alleles

HGVS	Amino-acid change
ENST00000504687.7:c.643_647del	ENSP00000426535.3:p.Arg215PhefsTer23
ENST00000498722.3:n.433_437del
ENST00000682650.1:c.1201_1205del	ENSP00000506904.1:p.Arg401PhefsTer23
ENST00000683032.1:c.1201_1205del	ENSP00000506771.1:p.Arg401PhefsTer23
ENST00000684195.1:c.1201_1205del	ENSP00000508220.1:p.Arg401PhefsTer23
ENST00000361308.9:c.1201_1205del	ENSP00000355292.6:p.Arg401PhefsTer23
ENST00000368300.9:c.1201_1205del MANE Select	ENSP00000357283.4:p.Arg401PhefsTer23
ENST00000496738.6:n.1576_1580del
ENST00000674518.1:c.*551_*555del	ENSP00000502261.1:n.*551_*555del
ENST00000674600.1:c.*1000_*1004del	ENSP00000501666.1:n.*1000_*1004del
ENST00000674720.1:c.1201_1205del	ENSP00000502798.1:p.Arg401PhefsTer23
ENST00000675431.1:n.894_898del
ENST00000675455.1:c.*1001_*1005del	ENSP00000501795.1:n.*1001_*1005del
ENST00000675667.1:c.1201_1205del	ENSP00000501803.1:p.Arg401PhefsTer23
ENST00000675874.1:c.*672_*676del	ENSP00000501851.1:n.*672_*676del
ENST00000675881.1:c.*212_*216del	ENSP00000501670.1:n.*212_*216del
ENST00000675939.1:c.1201_1205del	ENSP00000502256.1:p.Arg401PhefsTer23
ENST00000675989.1:n.1576_1580del
ENST00000676208.1:c.*304_*308del	ENSP00000502468.1:n.*304_*308del
ENST00000676283.1:n.1576_1580del
ENST00000676385.2:c.1201_1205del	ENSP00000502091.1:p.Arg401PhefsTer23
ENST00000676434.1:c.*212_*216del	ENSP00000501648.1:n.*212_*216del
ENST00000677389.1:c.1201_1205del MANE Plus Clinical	ENSP00000503633.1:p.Arg401PhefsTer23
ENST00000347559.6:c.1201_1205del	ENSP00000292304.3:p.Arg401PhefsTer23
ENST00000361308.8:c.1201_1205del	ENSP00000355292.5:p.Arg401PhefsTer23
ENST00000368297.5:c.958_962del	ENSP00000357280.1:p.Arg320PhefsTer23
ENST00000368298.2:n.465_469del
ENST00000368299.7:c.1201_1205del	ENSP00000357282.3:p.Arg401PhefsTer23
ENST00000368300.8:c.1201_1205del	ENSP00000357283.4:p.Arg401PhefsTer23
ENST00000368301.6:c.1201_1205del	ENSP00000357284.2:p.Arg401PhefsTer23
ENST00000448611.6:c.865_869del	ENSP00000395597.2:p.Arg289PhefsTer23
ENST00000473598.6:c.904_908del	ENSP00000421821.1:p.Arg302PhefsTer23
ENST00000496738.5:n.586_590del
ENST00000498722.2:n.433_437del
ENST00000508500.1:c.79_83del	ENSP00000424977.1:p.Arg27PhefsTer23
NM_001257374.2:c.865_869del	NP_001244303.1:p.Arg289PhefsTer23
NM_001282624.1:c.958_962del	NP_001269553.1:p.Arg320PhefsTer23
NM_001282625.1:c.1201_1205del	NP_001269554.1:p.Arg401PhefsTer23
NM_001282626.1:c.1201_1205del	NP_001269555.1:p.Arg401PhefsTer23
NM_005572.3:c.1201_1205del , LRG_254t1:c.1201_1205del	NP_005563.1:p.Arg401PhefsTer23
NM_170707.3:c.1201_1205del	NP_733821.1:p.Arg401PhefsTer23
NM_170708.3:c.1201_1205del	NP_733822.1:p.Arg401PhefsTer23
XM_011509533.1:c.865_869del	XP_011507835.1:p.Arg289PhefsTer23
XM_011509534.1:c.577_581del	XP_011507836.1:p.Arg193PhefsTer23
XR_921781.1:n.1490_1494del
XM_011509534.2:c.577_581del	XP_011507836.1:p.Arg193PhefsTer23
XR_921781.2:n.1488_1492del
NM_170707.4:c.1201_1205del MANE Select	NP_733821.1:p.Arg401PhefsTer23
NM_001257374.3:c.865_869del	NP_001244303.1:p.Arg289PhefsTer23
NM_001282626.2:c.1201_1205del	NP_001269555.1:p.Arg401PhefsTer23
NM_001282624.2:c.958_962del	NP_001269553.1:p.Arg320PhefsTer23
NM_001282625.2:c.1201_1205del	NP_001269554.1:p.Arg401PhefsTer23
NM_005572.4:c.1201_1205del MANE Plus Clinical	NP_005563.1:p.Arg401PhefsTer23
NM_170708.4:c.1201_1205del	NP_733822.1:p.Arg401PhefsTer23