Canonical Allele Identifier: CA2739292048

Gene: LMNA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156134838dup , CM000663.2:g.156134838dup	GRCh38
NC_000001.10:g.156104629dup , CM000663.1:g.156104629dup	GRCh37
NC_000001.9:g.154371253dup	NCBI36
NG_008692.2:g.57266dup , LRG_254:g.57266dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000504687.7:c.115dup	ENSP00000426535.3:p.Arg39ProfsTer6
ENST00000682650.1:c.673dup	ENSP00000506904.1:p.Arg225ProfsTer6
ENST00000683032.1:c.673dup	ENSP00000506771.1:p.Arg225ProfsTer6
ENST00000684195.1:c.673dup	ENSP00000508220.1:p.Arg225ProfsTer6
ENST00000361308.9:c.673dup	ENSP00000355292.6:p.Arg225ProfsTer6
ENST00000368300.9:c.673dup MANE Select	ENSP00000357283.4:p.Arg225ProfsTer6
ENST00000496738.6:n.1048dup
ENST00000504687.6:c.9dup	ENSP00000426535.2:p.Asp4ArgfsTer?
ENST00000674518.1:c.*23dup	ENSP00000502261.1:n.*23dup
ENST00000674600.1:c.*472dup	ENSP00000501666.1:n.*472dup
ENST00000674720.1:c.673dup	ENSP00000502798.1:p.Arg225ProfsTer6
ENST00000675431.1:n.366dup
ENST00000675455.1:c.*473dup	ENSP00000501795.1:n.*473dup
ENST00000675667.1:c.673dup	ENSP00000501803.1:p.Arg225ProfsTer6
ENST00000675874.1:c.*144dup	ENSP00000501851.1:n.*144dup
ENST00000675881.1:c.673dup	ENSP00000501670.1:p.Arg225ProfsTer6
ENST00000675939.1:c.673dup	ENSP00000502256.1:p.Arg225ProfsTer6
ENST00000675989.1:n.1048dup
ENST00000676208.1:c.673dup	ENSP00000502468.1:p.Arg225ProfsTer6
ENST00000676283.1:n.1048dup
ENST00000676385.2:c.673dup	ENSP00000502091.1:p.Arg225ProfsTer6
ENST00000676434.1:c.673dup	ENSP00000501648.1:p.Arg225ProfsTer6
ENST00000677389.1:c.673dup MANE Plus Clinical	ENSP00000503633.1:p.Arg225ProfsTer6
ENST00000347559.6:c.673dup	ENSP00000292304.3:p.Arg225ProfsTer6
ENST00000361308.8:c.673dup	ENSP00000355292.5:p.Arg225ProfsTer6
ENST00000368297.5:c.430dup	ENSP00000357280.1:p.Arg144ProfsTer6
ENST00000368299.7:c.673dup	ENSP00000357282.3:p.Arg225ProfsTer6
ENST00000368300.8:c.673dup	ENSP00000357283.4:p.Arg225ProfsTer6
ENST00000368301.6:c.673dup	ENSP00000357284.2:p.Arg225ProfsTer6
ENST00000448611.6:c.337dup	ENSP00000395597.2:p.Arg113ProfsTer6
ENST00000473598.6:c.376dup	ENSP00000421821.1:p.Arg126ProfsTer6
ENST00000496738.5:n.18dup
ENST00000504687.5:c.424dup	ENSP00000426535.1:p.Arg142ProfsTer6
ENST00000515459.5:c.*347dup	ENSP00000424518.1:n.*347dup
ENST00000515824.1:n.34dup
NM_001257374.2:c.337dup	NP_001244303.1:p.Arg113ProfsTer6
NM_001282624.1:c.430dup	NP_001269553.1:p.Arg144ProfsTer6
NM_001282625.1:c.673dup	NP_001269554.1:p.Arg225ProfsTer6
NM_001282626.1:c.673dup	NP_001269555.1:p.Arg225ProfsTer6
NM_005572.3:c.673dup , LRG_254t1:c.673dup	NP_005563.1:p.Arg225ProfsTer6
NM_170707.3:c.673dup	NP_733821.1:p.Arg225ProfsTer6
NM_170708.3:c.673dup	NP_733822.1:p.Arg225ProfsTer6
XM_011509533.1:c.337dup	XP_011507835.1:p.Arg113ProfsTer6
XM_011509534.1:c.9dup	XP_011507836.1:p.Asp4ArgfsTer?
XR_921781.1:n.922dup
XM_011509534.2:c.9dup	XP_011507836.1:p.Asp4ArgfsTer?
XR_921781.2:n.920dup
NM_170707.4:c.673dup MANE Select	NP_733821.1:p.Arg225ProfsTer6
NM_001257374.3:c.337dup	NP_001244303.1:p.Arg113ProfsTer6
NM_001282626.2:c.673dup	NP_001269555.1:p.Arg225ProfsTer6
NM_001282624.2:c.430dup	NP_001269553.1:p.Arg144ProfsTer6
NM_001282625.2:c.673dup	NP_001269554.1:p.Arg225ProfsTer6
NM_005572.4:c.673dup MANE Plus Clinical	NP_005563.1:p.Arg225ProfsTer6
NM_170708.4:c.673dup	NP_733822.1:p.Arg225ProfsTer6