Canonical Allele Identifier: CA1008065889
Gene: LMNA HGNC NCBI

Linked Data

dbSNP Id: rs1651735640

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156137224del , CM000663.2:g.156137224del GRCh38
NC_000001.10:g.156107015del , CM000663.1:g.156107015del GRCh37
NC_000001.9:g.154373639del NCBI36
NG_008692.2:g.59652del , LRG_254:g.59652del

Transcript Alleles

HGVS Amino-acid Change
ENST00000504687.7:c.1042del ENSP00000426535.3:p.Thr348LeufsTer14
ENST00000459904.2:n.848del
ENST00000498722.3:n.832del
ENST00000682650.1:c.1600del ENSP00000506904.1:p.Thr534LeufsTer?
ENST00000683032.1:c.1600del ENSP00000506771.1:p.Thr534LeufsTer14
ENST00000684195.1:c.1579+21del ENSP00000508220.1:n.1579+21del
ENST00000361308.9:c.1600del ENSP00000355292.6:p.Thr534LeufsTer14
ENST00000368300.9:c.1600del MANE Select ENSP00000357283.4:p.Thr534LeufsTer14
ENST00000496738.6:n.2059del
ENST00000674518.1:c.*950del ENSP00000502261.1:n.*950del
ENST00000674600.1:c.*1399del ENSP00000501666.1:n.*1399del
ENST00000674720.1:c.*162del ENSP00000502798.1:n.*162del
ENST00000675431.1:n.1293del
ENST00000675455.1:c.*1400del ENSP00000501795.1:n.*1400del
ENST00000675667.1:c.1600del ENSP00000501803.1:p.Thr534LeufsTer14
ENST00000675874.1:c.*1071del ENSP00000501851.1:n.*1071del
ENST00000675881.1:c.*611del ENSP00000501670.1:n.*611del
ENST00000675939.1:c.1600del ENSP00000502256.1:p.Thr534LeufsTer14
ENST00000675989.1:n.2459del
ENST00000676208.1:c.*703del ENSP00000502468.1:n.*703del
ENST00000676283.1:n.1975del
ENST00000676385.2:c.1600del ENSP00000502091.1:p.Thr534LeufsTer?
ENST00000676434.1:c.*611del ENSP00000501648.1:n.*611del
ENST00000677389.1:c.1600del MANE Plus Clinical ENSP00000503633.1:p.Thr534LeufsTer14
ENST00000347559.6:c.1600del ENSP00000292304.3:p.Thr534LeufsTer?
ENST00000361308.8:c.1345del ENSP00000355292.5:p.Thr449LeufsTer14
ENST00000368297.5:c.1357del ENSP00000357280.1:p.Thr453LeufsTer14
ENST00000368298.2:n.1432del
ENST00000368299.7:c.1600del ENSP00000357282.3:p.Thr534LeufsTer14
ENST00000368300.8:c.1600del ENSP00000357283.4:p.Thr534LeufsTer14
ENST00000368301.6:c.1600del ENSP00000357284.2:p.Thr534LeufsTer14
ENST00000448611.6:c.1264del ENSP00000395597.2:p.Thr422LeufsTer14
ENST00000459904.1:n.848del
ENST00000473598.6:c.1303del ENSP00000421821.1:p.Thr435LeufsTer14
ENST00000496738.5:n.1069del
ENST00000498722.2:n.832del
ENST00000508500.1:c.478del ENSP00000424977.1:p.Thr160LeufsTer?
NM_001257374.2:c.1264del NP_001244303.1:p.Thr422LeufsTer14
NM_001282624.1:c.1357del NP_001269553.1:p.Thr453LeufsTer14
NM_001282625.1:c.1600del NP_001269554.1:p.Thr534LeufsTer14
NM_001282626.1:c.1600del NP_001269555.1:p.Thr534LeufsTer14
NM_005572.3:c.1600del , LRG_254t1:c.1600del NP_005563.1:p.Thr534LeufsTer14
NM_170707.3:c.1600del NP_733821.1:p.Thr534LeufsTer14
NM_170708.3:c.1600del NP_733822.1:p.Thr534LeufsTer?
XM_011509533.1:c.1264del XP_011507835.1:p.Thr422LeufsTer14
XM_011509534.1:c.976del XP_011507836.1:p.Thr326LeufsTer14
XR_921781.1:n.1889del
XM_011509534.2:c.976del XP_011507836.1:p.Thr326LeufsTer14
XR_921781.2:n.1887del
NM_170707.4:c.1600del MANE Select NP_733821.1:p.Thr534LeufsTer14
NM_001257374.3:c.1264del NP_001244303.1:p.Thr422LeufsTer14
NM_001282626.2:c.1600del NP_001269555.1:p.Thr534LeufsTer14
NM_001282624.2:c.1357del NP_001269553.1:p.Thr453LeufsTer14
NM_001282625.2:c.1600del NP_001269554.1:p.Thr534LeufsTer14
NM_005572.4:c.1600del MANE Plus Clinical NP_005563.1:p.Thr534LeufsTer14
NM_170708.4:c.1600del NP_733822.1:p.Thr534LeufsTer?