Canonical Allele Identifier: CA1200467547
Gene: LMNA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156130640_156130643delinsTGAT , CM000663.2:g.156130640_156130643delinsTGAT GRCh38
NC_000001.10:g.156100431_156100434delinsTGAT , CM000663.1:g.156100431_156100434delinsTGAT GRCh37
NC_000001.9:g.154367055_154367058delinsTGAT NCBI36
NG_008692.2:g.53068_53071delinsTGAT , LRG_254:g.53068_53071delinsTGAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000504687.7:c.-179_-176delinsTGAT ENSP00000426535.3:n.-179_-176delinsTGAT
ENST00000682650.1:c.380_383delinsTGAT ENSP00000506904.1:p.Leu127=
ENST00000683032.1:c.380_383delinsTGAT ENSP00000506771.1:p.Leu127=
ENST00000684195.1:c.380_383delinsTGAT ENSP00000508220.1:p.Leu127=
ENST00000361308.9:c.380_383delinsTGAT ENSP00000355292.6:p.Leu127=
ENST00000368300.9:c.380_383delinsTGAT MANE Select ENSP00000357283.4:p.Leu127=
ENST00000496738.6:n.755_758delinsTGAT
ENST00000504687.6:c.-285_-282delinsTGAT ENSP00000426535.2:n.-285_-282delinsTGAT
ENST00000674518.1:c.380_383delinsTGAT ENSP00000502261.1:p.Leu127=
ENST00000674600.1:c.*179_*182delinsTGAT ENSP00000501666.1:n.*179_*182delinsTGAT
ENST00000674720.1:c.380_383delinsTGAT ENSP00000502798.1:p.Leu127=
ENST00000675431.1:n.73_76delinsTGAT
ENST00000675455.1:c.*180_*183delinsTGAT ENSP00000501795.1:n.*180_*183delinsTGAT
ENST00000675667.1:c.380_383delinsTGAT ENSP00000501803.1:p.Leu127=
ENST00000675874.1:c.357-3763_357-3760delinsTGAT ENSP00000501851.1:n.357-3763_357-3760delinsTGAT
ENST00000675881.1:c.380_383delinsTGAT ENSP00000501670.1:p.Leu127=
ENST00000675939.1:c.380_383delinsTGAT ENSP00000502256.1:p.Leu127=
ENST00000675989.1:n.755_758delinsTGAT
ENST00000676208.1:c.380_383delinsTGAT ENSP00000502468.1:p.Leu127=
ENST00000676283.1:n.755_758delinsTGAT
ENST00000676385.2:c.380_383delinsTGAT ENSP00000502091.1:p.Leu127=
ENST00000676434.1:c.380_383delinsTGAT ENSP00000501648.1:p.Leu127=
ENST00000677389.1:c.380_383delinsTGAT MANE Plus Clinical ENSP00000503633.1:p.Leu127=
ENST00000347559.6:c.380_383delinsTGAT ENSP00000292304.3:p.Leu127=
ENST00000361308.8:c.380_383delinsTGAT ENSP00000355292.5:p.Leu127=
ENST00000368297.5:c.137_140delinsTGAT ENSP00000357280.1:p.Leu46=
ENST00000368299.7:c.380_383delinsTGAT ENSP00000357282.3:p.Leu127=
ENST00000368300.8:c.380_383delinsTGAT ENSP00000357283.4:p.Leu127=
ENST00000368301.6:c.380_383delinsTGAT ENSP00000357284.2:p.Leu127=
ENST00000448611.6:c.44_47delinsTGAT ENSP00000395597.2:p.Leu15=
ENST00000469565.6:n.414_417delinsTGAT
ENST00000470199.2:n.357-35_357-32delinsTGAT
ENST00000473598.6:c.83_86delinsTGAT ENSP00000421821.1:p.Leu28=
ENST00000502357.5:n.278_281delinsTGAT
ENST00000502751.5:n.352_355delinsTGAT
ENST00000504687.5:c.131_134delinsTGAT ENSP00000426535.1:p.Leu44=
ENST00000515459.5:c.*54_*57delinsTGAT ENSP00000424518.1:n.*54_*57delinsTGAT
NM_001257374.2:c.44_47delinsTGAT NP_001244303.1:p.Leu15=
NM_001282624.1:c.137_140delinsTGAT NP_001269553.1:p.Leu46=
NM_001282625.1:c.380_383delinsTGAT NP_001269554.1:p.Leu127=
NM_001282626.1:c.380_383delinsTGAT NP_001269555.1:p.Leu127=
NM_005572.3:c.380_383delinsTGAT , LRG_254t1:c.380_383delinsTGAT NP_005563.1:p.Leu127=
NM_170707.3:c.380_383delinsTGAT NP_733821.1:p.Leu127=
NM_170708.3:c.380_383delinsTGAT NP_733822.1:p.Leu127=
XM_011509533.1:c.44_47delinsTGAT XP_011507835.1:p.Leu15=
XM_011509534.1:c.-285_-282delinsTGAT XP_011507836.1:n.-285_-282delinsTGAT
XR_921781.1:n.629_632delinsTGAT
XM_011509534.2:c.-285_-282delinsTGAT XP_011507836.1:n.-285_-282delinsTGAT
XR_921781.2:n.627_630delinsTGAT
NM_170707.4:c.380_383delinsTGAT MANE Select NP_733821.1:p.Leu127=
NM_001257374.3:c.44_47delinsTGAT NP_001244303.1:p.Leu15=
NM_001282626.2:c.380_383delinsTGAT NP_001269555.1:p.Leu127=
NM_001282624.2:c.137_140delinsTGAT NP_001269553.1:p.Leu46=
NM_001282625.2:c.380_383delinsTGAT NP_001269554.1:p.Leu127=
NM_005572.4:c.380_383delinsTGAT MANE Plus Clinical NP_005563.1:p.Leu127=
NM_170708.4:c.380_383delinsTGAT NP_733822.1:p.Leu127=