Canonical Allele Identifier: CA1200472466
Gene: LMNA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156136112_156136113delinsAG , CM000663.2:g.156136112_156136113delinsAG GRCh38
NC_000001.10:g.156105903_156105904delinsAG , CM000663.1:g.156105903_156105904delinsAG GRCh37
NC_000001.9:g.154372527_154372528delinsAG NCBI36
NG_008692.2:g.58540_58541delinsAG , LRG_254:g.58540_58541delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000504687.7:c.590_591delinsAG ENSP00000426535.3:p.Glu197=
ENST00000498722.3:n.380_381delinsAG
ENST00000682650.1:c.1148_1149delinsAG ENSP00000506904.1:p.Glu383=
ENST00000683032.1:c.1148_1149delinsAG ENSP00000506771.1:p.Glu383=
ENST00000684195.1:c.1148_1149delinsAG ENSP00000508220.1:p.Glu383=
ENST00000361308.9:c.1148_1149delinsAG ENSP00000355292.6:p.Glu383=
ENST00000368300.9:c.1148_1149delinsAG MANE Select ENSP00000357283.4:p.Glu383=
ENST00000496738.6:n.1523_1524delinsAG
ENST00000674518.1:c.*498_*499delinsAG ENSP00000502261.1:n.*498_*499delinsAG
ENST00000674600.1:c.*947_*948delinsAG ENSP00000501666.1:n.*947_*948delinsAG
ENST00000674720.1:c.1148_1149delinsAG ENSP00000502798.1:p.Glu383=
ENST00000675431.1:n.841_842delinsAG
ENST00000675455.1:c.*948_*949delinsAG ENSP00000501795.1:n.*948_*949delinsAG
ENST00000675667.1:c.1148_1149delinsAG ENSP00000501803.1:p.Glu383=
ENST00000675874.1:c.*619_*620delinsAG ENSP00000501851.1:n.*619_*620delinsAG
ENST00000675881.1:c.*159_*160delinsAG ENSP00000501670.1:n.*159_*160delinsAG
ENST00000675939.1:c.1148_1149delinsAG ENSP00000502256.1:p.Glu383=
ENST00000675989.1:n.1523_1524delinsAG
ENST00000676208.1:c.*159_*160delinsAG ENSP00000502468.1:n.*159_*160delinsAG
ENST00000676283.1:n.1523_1524delinsAG
ENST00000676385.2:c.1148_1149delinsAG ENSP00000502091.1:p.Glu383=
ENST00000676434.1:c.*159_*160delinsAG ENSP00000501648.1:n.*159_*160delinsAG
ENST00000677389.1:c.1148_1149delinsAG MANE Plus Clinical ENSP00000503633.1:p.Glu383=
ENST00000347559.6:c.1148_1149delinsAG ENSP00000292304.3:p.Glu383=
ENST00000361308.8:c.1148_1149delinsAG ENSP00000355292.5:p.Glu383=
ENST00000368297.5:c.905_906delinsAG ENSP00000357280.1:p.Glu302=
ENST00000368298.2:n.412_413delinsAG
ENST00000368299.7:c.1148_1149delinsAG ENSP00000357282.3:p.Glu383=
ENST00000368300.8:c.1148_1149delinsAG ENSP00000357283.4:p.Glu383=
ENST00000368301.6:c.1148_1149delinsAG ENSP00000357284.2:p.Glu383=
ENST00000448611.6:c.812_813delinsAG ENSP00000395597.2:p.Glu271=
ENST00000473598.6:c.851_852delinsAG ENSP00000421821.1:p.Glu284=
ENST00000496738.5:n.533_534delinsAG
ENST00000498722.2:n.380_381delinsAG
ENST00000508500.1:c.26_27delinsAG ENSP00000424977.1:p.Glu9=
NM_001257374.2:c.812_813delinsAG NP_001244303.1:p.Glu271=
NM_001282624.1:c.905_906delinsAG NP_001269553.1:p.Glu302=
NM_001282625.1:c.1148_1149delinsAG NP_001269554.1:p.Glu383=
NM_001282626.1:c.1148_1149delinsAG NP_001269555.1:p.Glu383=
NM_005572.3:c.1148_1149delinsAG , LRG_254t1:c.1148_1149delinsAG NP_005563.1:p.Glu383=
NM_170707.3:c.1148_1149delinsAG NP_733821.1:p.Glu383=
NM_170708.3:c.1148_1149delinsAG NP_733822.1:p.Glu383=
XM_011509533.1:c.812_813delinsAG XP_011507835.1:p.Glu271=
XM_011509534.1:c.524_525delinsAG XP_011507836.1:p.Glu175=
XR_921781.1:n.1437_1438delinsAG
XM_011509534.2:c.524_525delinsAG XP_011507836.1:p.Glu175=
XR_921781.2:n.1435_1436delinsAG
NM_170707.4:c.1148_1149delinsAG MANE Select NP_733821.1:p.Glu383=
NM_001257374.3:c.812_813delinsAG NP_001244303.1:p.Glu271=
NM_001282626.2:c.1148_1149delinsAG NP_001269555.1:p.Glu383=
NM_001282624.2:c.905_906delinsAG NP_001269553.1:p.Glu302=
NM_001282625.2:c.1148_1149delinsAG NP_001269554.1:p.Glu383=
NM_005572.4:c.1148_1149delinsAG MANE Plus Clinical NP_005563.1:p.Glu383=
NM_170708.4:c.1148_1149delinsAG NP_733822.1:p.Glu383=