Canonical Allele Identifier: CA2573130572

Gene: LMNA

Linked Data

• ClinVar Variation Id: 1453232
• ClinVar RCV Id: RCV001994759
• dbSNP Id: rs2102879360

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156134525_156134526dup , CM000663.2:g.156134525_156134526dup	GRCh38
NC_000001.10:g.156104316_156104317dup , CM000663.1:g.156104316_156104317dup	GRCh37
NC_000001.9:g.154370940_154370941dup	NCBI36
NG_008692.2:g.56953_56954dup , LRG_254:g.56953_56954dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504687.7:c.78_79dup	ENSP00000426535.3:p.Glu27ValfsTer?
ENST00000682650.1:c.636_637dup	ENSP00000506904.1:p.Glu213ValfsTer?
ENST00000683032.1:c.636_637dup	ENSP00000506771.1:p.Glu213ValfsTer?
ENST00000684195.1:c.636_637dup	ENSP00000508220.1:p.Glu213ValfsTer?
ENST00000361308.9:c.636_637dup	ENSP00000355292.6:p.Glu213ValfsTer?
ENST00000368300.9:c.636_637dup MANE Select	ENSP00000357283.4:p.Glu213ValfsTer?
ENST00000496738.6:n.1011_1012dup
ENST00000504687.6:c.-29_-28dup	ENSP00000426535.2:n.-29_-28dup
ENST00000674518.1:c.634+2_634+3dup	ENSP00000502261.1:n.634+2_634+3dup
ENST00000674600.1:c.*435_*436dup	ENSP00000501666.1:n.*435_*436dup
ENST00000674720.1:c.636_637dup	ENSP00000502798.1:p.Glu213ValfsTer?
ENST00000675431.1:n.329_330dup
ENST00000675455.1:c.*436_*437dup	ENSP00000501795.1:n.*436_*437dup
ENST00000675667.1:c.636_637dup	ENSP00000501803.1:p.Glu213ValfsTer?
ENST00000675874.1:c.*107_*108dup	ENSP00000501851.1:n.*107_*108dup
ENST00000675881.1:c.636_637dup	ENSP00000501670.1:p.Glu213ValfsTer?
ENST00000675939.1:c.636_637dup	ENSP00000502256.1:p.Glu213ValfsTer?
ENST00000675989.1:n.1011_1012dup
ENST00000676208.1:c.636_637dup	ENSP00000502468.1:p.Glu213ValfsTer?
ENST00000676283.1:n.1011_1012dup
ENST00000676385.2:c.636_637dup	ENSP00000502091.1:p.Glu213ValfsTer?
ENST00000676434.1:c.636_637dup	ENSP00000501648.1:p.Glu213ValfsTer?
ENST00000677389.1:c.636_637dup MANE Plus Clinical	ENSP00000503633.1:p.Glu213ValfsTer?
ENST00000347559.6:c.636_637dup	ENSP00000292304.3:p.Glu213ValfsTer?
ENST00000361308.8:c.636_637dup	ENSP00000355292.5:p.Glu213ValfsTer?
ENST00000368297.5:c.393_394dup	ENSP00000357280.1:p.Glu132ValfsTer?
ENST00000368299.7:c.636_637dup	ENSP00000357282.3:p.Glu213ValfsTer?
ENST00000368300.8:c.636_637dup	ENSP00000357283.4:p.Glu213ValfsTer?
ENST00000368301.6:c.636_637dup	ENSP00000357284.2:p.Glu213ValfsTer?
ENST00000448611.6:c.300_301dup	ENSP00000395597.2:p.Glu101ValfsTer?
ENST00000473598.6:c.339_340dup	ENSP00000421821.1:p.Glu114ValfsTer?
ENST00000502357.5:n.534_535dup
ENST00000504687.5:c.387_388dup	ENSP00000426535.1:p.Glu130ValfsTer?
ENST00000515459.5:c.*310_*311dup	ENSP00000424518.1:n.*310_*311dup
NM_001257374.2:c.300_301dup	NP_001244303.1:p.Glu101ValfsTer?
NM_001282624.1:c.393_394dup	NP_001269553.1:p.Glu132ValfsTer?
NM_001282625.1:c.636_637dup	NP_001269554.1:p.Glu213ValfsTer?
NM_001282626.1:c.636_637dup	NP_001269555.1:p.Glu213ValfsTer?
NM_005572.3:c.636_637dup , LRG_254t1:c.636_637dup	NP_005563.1:p.Glu213ValfsTer?
NM_170707.3:c.636_637dup	NP_733821.1:p.Glu213ValfsTer?
NM_170708.3:c.636_637dup	NP_733822.1:p.Glu213ValfsTer?
XM_011509533.1:c.300_301dup	XP_011507835.1:p.Glu101ValfsTer?
XM_011509534.1:c.-29_-28dup	XP_011507836.1:n.-29_-28dup
XR_921781.1:n.885_886dup
XM_011509534.2:c.-29_-28dup	XP_011507836.1:n.-29_-28dup
XR_921781.2:n.883_884dup
NM_170707.4:c.636_637dup MANE Select	NP_733821.1:p.Glu213ValfsTer?
NM_001257374.3:c.300_301dup	NP_001244303.1:p.Glu101ValfsTer?
NM_001282626.2:c.636_637dup	NP_001269555.1:p.Glu213ValfsTer?
NM_001282624.2:c.393_394dup	NP_001269553.1:p.Glu132ValfsTer?
NM_001282625.2:c.636_637dup	NP_001269554.1:p.Glu213ValfsTer?
NM_005572.4:c.636_637dup MANE Plus Clinical	NP_005563.1:p.Glu213ValfsTer?
NM_170708.4:c.636_637dup	NP_733822.1:p.Glu213ValfsTer?