Canonical Allele Identifier: CA2580612542

Gene: LMNA

Linked Data

• ClinVar Variation Id: 2505317
• ClinVar RCV Id: RCV003319250

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156135936_156135938del , CM000663.2:g.156135936_156135938del	GRCh38
NC_000001.10:g.156105727_156105729del , CM000663.1:g.156105727_156105729del	GRCh37
NC_000001.9:g.154372351_154372353del	NCBI36
NG_008692.2:g.58364_58366del , LRG_254:g.58364_58366del

Transcript Alleles

HGVS	Amino-acid change
ENST00000504687.7:c.414_416del	ENSP00000426535.3:p.Glu138del
ENST00000498722.3:n.204_206del
ENST00000682650.1:c.972_974del	ENSP00000506904.1:p.Glu324del
ENST00000683032.1:c.972_974del	ENSP00000506771.1:p.Glu324del
ENST00000684195.1:c.972_974del	ENSP00000508220.1:p.Glu324del
ENST00000361308.9:c.972_974del	ENSP00000355292.6:p.Glu324del
ENST00000368300.9:c.972_974del MANE Select	ENSP00000357283.4:p.Glu324del
ENST00000496738.6:n.1347_1349del
ENST00000674518.1:c.*322_*324del	ENSP00000502261.1:n.*322_*324del
ENST00000674600.1:c.*771_*773del	ENSP00000501666.1:n.*771_*773del
ENST00000674720.1:c.972_974del	ENSP00000502798.1:p.Glu324del
ENST00000675431.1:n.665_667del
ENST00000675455.1:c.*772_*774del	ENSP00000501795.1:n.*772_*774del
ENST00000675667.1:c.972_974del	ENSP00000501803.1:p.Glu324del
ENST00000675874.1:c.*443_*445del	ENSP00000501851.1:n.*443_*445del
ENST00000675881.1:c.1012_1014del	ENSP00000501670.1:p.Gly338del
ENST00000675939.1:c.972_974del	ENSP00000502256.1:p.Glu324del
ENST00000675989.1:n.1347_1349del
ENST00000676208.1:c.1012_1014del	ENSP00000502468.1:p.Gly338del
ENST00000676283.1:n.1347_1349del
ENST00000676385.2:c.972_974del	ENSP00000502091.1:p.Glu324del
ENST00000676434.1:c.1012_1014del	ENSP00000501648.1:p.Gly338del
ENST00000677389.1:c.972_974del MANE Plus Clinical	ENSP00000503633.1:p.Glu324del
ENST00000347559.6:c.972_974del	ENSP00000292304.3:p.Glu324del
ENST00000361308.8:c.972_974del	ENSP00000355292.5:p.Glu324del
ENST00000368297.5:c.729_731del	ENSP00000357280.1:p.Glu243del
ENST00000368298.2:n.236_238del
ENST00000368299.7:c.972_974del	ENSP00000357282.3:p.Glu324del
ENST00000368300.8:c.972_974del	ENSP00000357283.4:p.Glu324del
ENST00000368301.6:c.972_974del	ENSP00000357284.2:p.Glu324del
ENST00000448611.6:c.636_638del	ENSP00000395597.2:p.Glu212del
ENST00000473598.6:c.675_677del	ENSP00000421821.1:p.Glu225del
ENST00000496738.5:n.357_359del
ENST00000498722.2:n.204_206del
NM_001257374.2:c.636_638del	NP_001244303.1:p.Glu212del
NM_001282624.1:c.729_731del	NP_001269553.1:p.Glu243del
NM_001282625.1:c.972_974del	NP_001269554.1:p.Glu324del
NM_001282626.1:c.972_974del	NP_001269555.1:p.Glu324del
NM_005572.3:c.972_974del , LRG_254t1:c.972_974del	NP_005563.1:p.Glu324del
NM_170707.3:c.972_974del	NP_733821.1:p.Glu324del
NM_170708.3:c.972_974del	NP_733822.1:p.Glu324del
XM_011509533.1:c.636_638del	XP_011507835.1:p.Glu212del
XM_011509534.1:c.348_350del	XP_011507836.1:p.Glu116del
XR_921781.1:n.1261_1263del
XM_011509534.2:c.348_350del	XP_011507836.1:p.Glu116del
XR_921781.2:n.1259_1261del
NM_170707.4:c.972_974del MANE Select	NP_733821.1:p.Glu324del
NM_001257374.3:c.636_638del	NP_001244303.1:p.Glu212del
NM_001282626.2:c.972_974del	NP_001269555.1:p.Glu324del
NM_001282624.2:c.729_731del	NP_001269553.1:p.Glu243del
NM_001282625.2:c.972_974del	NP_001269554.1:p.Glu324del
NM_005572.4:c.972_974del MANE Plus Clinical	NP_005563.1:p.Glu324del
NM_170708.4:c.972_974del	NP_733822.1:p.Glu324del