Canonical Allele Identifier: CA1200472923
Gene: LMNA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156137212_156137215delinsCTCA , CM000663.2:g.156137212_156137215delinsCTCA GRCh38
NC_000001.10:g.156107003_156107006delinsCTCA , CM000663.1:g.156107003_156107006delinsCTCA GRCh37
NC_000001.9:g.154373627_154373630delinsCTCA NCBI36
NG_008692.2:g.59640_59643delinsCTCA , LRG_254:g.59640_59643delinsCTCA

Transcript Alleles

HGVS Amino-acid change
ENST00000504687.7:c.1030_1033delinsCTCA ENSP00000426535.3:p.Leu344=
ENST00000459904.2:n.836_839delinsCTCA
ENST00000498722.3:n.820_823delinsCTCA
ENST00000682650.1:c.1588_1591delinsCTCA ENSP00000506904.1:p.Leu530=
ENST00000683032.1:c.1588_1591delinsCTCA ENSP00000506771.1:p.Leu530=
ENST00000684195.1:c.1579+9_1579+12delinsCTCA ENSP00000508220.1:n.1579+9_1579+12delinsC...
ENST00000361308.9:c.1588_1591delinsCTCA ENSP00000355292.6:p.Leu530=
ENST00000368300.9:c.1588_1591delinsCTCA MANE Select ENSP00000357283.4:p.Leu530=
ENST00000496738.6:n.2047_2050delinsCTCA
ENST00000674518.1:c.*938_*941delinsCTCA ENSP00000502261.1:n.*938_*941delinsCTCA
ENST00000674600.1:c.*1387_*1390delinsCTCA ENSP00000501666.1:n.*1387_*1390delinsCTCA...
ENST00000674720.1:c.*150_*153delinsCTCA ENSP00000502798.1:n.*150_*153delinsCTCA
ENST00000675431.1:n.1281_1284delinsCTCA
ENST00000675455.1:c.*1388_*1391delinsCTCA ENSP00000501795.1:n.*1388_*1391delinsCTCA...
ENST00000675667.1:c.1588_1591delinsCTCA ENSP00000501803.1:p.Leu530=
ENST00000675874.1:c.*1059_*1062delinsCTCA ENSP00000501851.1:n.*1059_*1062delinsCTCA...
ENST00000675881.1:c.*599_*602delinsCTCA ENSP00000501670.1:n.*599_*602delinsCTCA
ENST00000675939.1:c.1588_1591delinsCTCA ENSP00000502256.1:p.Leu530=
ENST00000675989.1:n.2447_2450delinsCTCA
ENST00000676208.1:c.*691_*694delinsCTCA ENSP00000502468.1:n.*691_*694delinsCTCA
ENST00000676283.1:n.1963_1966delinsCTCA
ENST00000676385.2:c.1588_1591delinsCTCA ENSP00000502091.1:p.Leu530=
ENST00000676434.1:c.*599_*602delinsCTCA ENSP00000501648.1:n.*599_*602delinsCTCA
ENST00000677389.1:c.1588_1591delinsCTCA MANE Plus Clinical ENSP00000503633.1:p.Leu530=
ENST00000347559.6:c.1588_1591delinsCTCA ENSP00000292304.3:p.Leu530=
ENST00000361308.8:c.1333_1336delinsCTCA ENSP00000355292.5:p.Leu445=
ENST00000368297.5:c.1345_1348delinsCTCA ENSP00000357280.1:p.Leu449=
ENST00000368298.2:n.1420_1423delinsCTCA
ENST00000368299.7:c.1588_1591delinsCTCA ENSP00000357282.3:p.Leu530=
ENST00000368300.8:c.1588_1591delinsCTCA ENSP00000357283.4:p.Leu530=
ENST00000368301.6:c.1588_1591delinsCTCA ENSP00000357284.2:p.Leu530=
ENST00000448611.6:c.1252_1255delinsCTCA ENSP00000395597.2:p.Leu418=
ENST00000459904.1:n.836_839delinsCTCA
ENST00000473598.6:c.1291_1294delinsCTCA ENSP00000421821.1:p.Leu431=
ENST00000496738.5:n.1057_1060delinsCTCA
ENST00000498722.2:n.820_823delinsCTCA
ENST00000508500.1:c.466_469delinsCTCA ENSP00000424977.1:p.Leu156=
NM_001257374.2:c.1252_1255delinsCTCA NP_001244303.1:p.Leu418=
NM_001282624.1:c.1345_1348delinsCTCA NP_001269553.1:p.Leu449=
NM_001282625.1:c.1588_1591delinsCTCA NP_001269554.1:p.Leu530=
NM_001282626.1:c.1588_1591delinsCTCA NP_001269555.1:p.Leu530=
NM_005572.3:c.1588_1591delinsCTCA , LRG_254t1:c.1588_1591delinsCTCA NP_005563.1:p.Leu530=
NM_170707.3:c.1588_1591delinsCTCA NP_733821.1:p.Leu530=
NM_170708.3:c.1588_1591delinsCTCA NP_733822.1:p.Leu530=
XM_011509533.1:c.1252_1255delinsCTCA XP_011507835.1:p.Leu418=
XM_011509534.1:c.964_967delinsCTCA XP_011507836.1:p.Leu322=
XR_921781.1:n.1877_1880delinsCTCA
XM_011509534.2:c.964_967delinsCTCA XP_011507836.1:p.Leu322=
XR_921781.2:n.1875_1878delinsCTCA
NM_170707.4:c.1588_1591delinsCTCA MANE Select NP_733821.1:p.Leu530=
NM_001257374.3:c.1252_1255delinsCTCA NP_001244303.1:p.Leu418=
NM_001282626.2:c.1588_1591delinsCTCA NP_001269555.1:p.Leu530=
NM_001282624.2:c.1345_1348delinsCTCA NP_001269553.1:p.Leu449=
NM_001282625.2:c.1588_1591delinsCTCA NP_001269554.1:p.Leu530=
NM_005572.4:c.1588_1591delinsCTCA MANE Plus Clinical NP_005563.1:p.Leu530=
NM_170708.4:c.1588_1591delinsCTCA NP_733822.1:p.Leu530=