Canonical Allele Identifier: CA2739275314

Gene: LMNA

Linked Data

• ClinVar Variation Id: 2831514
• ClinVar RCV Id: RCV003744334

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156134936_156134937delinsTT , CM000663.2:g.156134936_156134937delinsTT	GRCh38
NC_000001.10:g.156104727_156104728delinsTT , CM000663.1:g.156104727_156104728delinsTT	GRCh37
NC_000001.9:g.154371351_154371352delinsTT	NCBI36
NG_008692.2:g.57364_57365delinsTT , LRG_254:g.57364_57365delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504687.7:c.213_214delinsTT	ENSP00000426535.3:p.Glu71AspfsTer2
ENST00000682650.1:c.771_772delinsTT	ENSP00000506904.1:p.Glu257AspfsTer2
ENST00000683032.1:c.771_772delinsTT	ENSP00000506771.1:p.Glu257AspfsTer2
ENST00000684195.1:c.771_772delinsTT	ENSP00000508220.1:p.Glu257AspfsTer2
ENST00000361308.9:c.771_772delinsTT	ENSP00000355292.6:p.Glu257AspfsTer2
ENST00000368300.9:c.771_772delinsTT MANE Select	ENSP00000357283.4:p.Glu257AspfsTer2
ENST00000496738.6:n.1146_1147delinsTT
ENST00000504687.6:c.107_108delinsTT	ENSP00000426535.2:p.Ser36Ile
ENST00000674518.1:c.*121_*122delinsTT	ENSP00000502261.1:n.*121_*122delinsTT
ENST00000674600.1:c.*570_*571delinsTT	ENSP00000501666.1:n.*570_*571delinsTT
ENST00000674720.1:c.771_772delinsTT	ENSP00000502798.1:p.Glu257AspfsTer2
ENST00000675431.1:n.464_465delinsTT
ENST00000675455.1:c.*571_*572delinsTT	ENSP00000501795.1:n.*571_*572delinsTT
ENST00000675667.1:c.771_772delinsTT	ENSP00000501803.1:p.Glu257AspfsTer2
ENST00000675874.1:c.*242_*243delinsTT	ENSP00000501851.1:n.*242_*243delinsTT
ENST00000675881.1:c.771_772delinsTT	ENSP00000501670.1:p.Glu257AspfsTer2
ENST00000675939.1:c.771_772delinsTT	ENSP00000502256.1:p.Glu257AspfsTer2
ENST00000675989.1:n.1146_1147delinsTT
ENST00000676208.1:c.771_772delinsTT	ENSP00000502468.1:p.Glu257AspfsTer2
ENST00000676283.1:n.1146_1147delinsTT
ENST00000676385.2:c.771_772delinsTT	ENSP00000502091.1:p.Glu257AspfsTer2
ENST00000676434.1:c.771_772delinsTT	ENSP00000501648.1:p.Glu257AspfsTer2
ENST00000677389.1:c.771_772delinsTT MANE Plus Clinical	ENSP00000503633.1:p.Glu257AspfsTer2
ENST00000347559.6:c.771_772delinsTT	ENSP00000292304.3:p.Glu257AspfsTer2
ENST00000361308.8:c.771_772delinsTT	ENSP00000355292.5:p.Glu257AspfsTer2
ENST00000368297.5:c.528_529delinsTT	ENSP00000357280.1:p.Glu176AspfsTer2
ENST00000368299.7:c.771_772delinsTT	ENSP00000357282.3:p.Glu257AspfsTer2
ENST00000368300.8:c.771_772delinsTT	ENSP00000357283.4:p.Glu257AspfsTer2
ENST00000368301.6:c.771_772delinsTT	ENSP00000357284.2:p.Glu257AspfsTer2
ENST00000448611.6:c.435_436delinsTT	ENSP00000395597.2:p.Glu145AspfsTer2
ENST00000473598.6:c.474_475delinsTT	ENSP00000421821.1:p.Glu158AspfsTer2
ENST00000496738.5:n.116_117delinsTT
ENST00000504687.5:c.522_523delinsTT	ENSP00000426535.1:p.Glu174AspfsTer2
ENST00000515459.5:c.*445_*446delinsTT	ENSP00000424518.1:n.*445_*446delinsTT
ENST00000515824.1:n.132_133delinsTT
NM_001257374.2:c.435_436delinsTT	NP_001244303.1:p.Glu145AspfsTer2
NM_001282624.1:c.528_529delinsTT	NP_001269553.1:p.Glu176AspfsTer2
NM_001282625.1:c.771_772delinsTT	NP_001269554.1:p.Glu257AspfsTer2
NM_001282626.1:c.771_772delinsTT	NP_001269555.1:p.Glu257AspfsTer2
NM_005572.3:c.771_772delinsTT , LRG_254t1:c.771_772delinsTT	NP_005563.1:p.Glu257AspfsTer2
NM_170707.3:c.771_772delinsTT	NP_733821.1:p.Glu257AspfsTer2
NM_170708.3:c.771_772delinsTT	NP_733822.1:p.Glu257AspfsTer2
XM_011509533.1:c.435_436delinsTT	XP_011507835.1:p.Glu145AspfsTer2
XM_011509534.1:c.107_108delinsTT	XP_011507836.1:p.Ser36Ile
XR_921781.1:n.1020_1021delinsTT
XM_011509534.2:c.107_108delinsTT	XP_011507836.1:p.Ser36Ile
XR_921781.2:n.1018_1019delinsTT
NM_170707.4:c.771_772delinsTT MANE Select	NP_733821.1:p.Glu257AspfsTer2
NM_001257374.3:c.435_436delinsTT	NP_001244303.1:p.Glu145AspfsTer2
NM_001282626.2:c.771_772delinsTT	NP_001269555.1:p.Glu257AspfsTer2
NM_001282624.2:c.528_529delinsTT	NP_001269553.1:p.Glu176AspfsTer2
NM_001282625.2:c.771_772delinsTT	NP_001269554.1:p.Glu257AspfsTer2
NM_005572.4:c.771_772delinsTT MANE Plus Clinical	NP_005563.1:p.Glu257AspfsTer2
NM_170708.4:c.771_772delinsTT	NP_733822.1:p.Glu257AspfsTer2