Canonical Allele Identifier: CA2586964298
Gene: LMNA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156137214del , CM000663.2:g.156137214del GRCh38
NC_000001.10:g.156107005del , CM000663.1:g.156107005del GRCh37
NC_000001.9:g.154373629del NCBI36
NG_008692.2:g.59642del , LRG_254:g.59642del

Transcript Alleles

HGVS Amino-acid change
ENST00000504687.7:c.1032del ENSP00000426535.3:p.Ile345SerfsTer17
ENST00000459904.2:n.838del
ENST00000498722.3:n.822del
ENST00000682650.1:c.1590del ENSP00000506904.1:p.Ile531SerfsTer?
ENST00000683032.1:c.1590del ENSP00000506771.1:p.Ile531SerfsTer17
ENST00000684195.1:c.1579+11del ENSP00000508220.1:n.1579+11del
ENST00000361308.9:c.1590del ENSP00000355292.6:p.Ile531SerfsTer17
ENST00000368300.9:c.1590del MANE Select ENSP00000357283.4:p.Ile531SerfsTer17
ENST00000496738.6:n.2049del
ENST00000674518.1:c.*940del ENSP00000502261.1:n.*940del
ENST00000674600.1:c.*1389del ENSP00000501666.1:n.*1389del
ENST00000674720.1:c.*152del ENSP00000502798.1:n.*152del
ENST00000675431.1:n.1283del
ENST00000675455.1:c.*1390del ENSP00000501795.1:n.*1390del
ENST00000675667.1:c.1590del ENSP00000501803.1:p.Ile531SerfsTer17
ENST00000675874.1:c.*1061del ENSP00000501851.1:n.*1061del
ENST00000675881.1:c.*601del ENSP00000501670.1:n.*601del
ENST00000675939.1:c.1590del ENSP00000502256.1:p.Ile531SerfsTer17
ENST00000675989.1:n.2449del
ENST00000676208.1:c.*693del ENSP00000502468.1:n.*693del
ENST00000676283.1:n.1965del
ENST00000676385.2:c.1590del ENSP00000502091.1:p.Ile531SerfsTer?
ENST00000676434.1:c.*601del ENSP00000501648.1:n.*601del
ENST00000677389.1:c.1590del MANE Plus Clinical ENSP00000503633.1:p.Ile531SerfsTer17
ENST00000347559.6:c.1590del ENSP00000292304.3:p.Ile531SerfsTer?
ENST00000361308.8:c.1335del ENSP00000355292.5:p.Ile446SerfsTer17
ENST00000368297.5:c.1347del ENSP00000357280.1:p.Ile450SerfsTer17
ENST00000368298.2:n.1422del
ENST00000368299.7:c.1590del ENSP00000357282.3:p.Ile531SerfsTer17
ENST00000368300.8:c.1590del ENSP00000357283.4:p.Ile531SerfsTer17
ENST00000368301.6:c.1590del ENSP00000357284.2:p.Ile531SerfsTer17
ENST00000448611.6:c.1254del ENSP00000395597.2:p.Ile419SerfsTer17
ENST00000459904.1:n.838del
ENST00000473598.6:c.1293del ENSP00000421821.1:p.Ile432SerfsTer17
ENST00000496738.5:n.1059del
ENST00000498722.2:n.822del
ENST00000508500.1:c.468del ENSP00000424977.1:p.Ile157SerfsTer?
NM_001257374.2:c.1254del NP_001244303.1:p.Ile419SerfsTer17
NM_001282624.1:c.1347del NP_001269553.1:p.Ile450SerfsTer17
NM_001282625.1:c.1590del NP_001269554.1:p.Ile531SerfsTer17
NM_001282626.1:c.1590del NP_001269555.1:p.Ile531SerfsTer17
NM_005572.3:c.1590del , LRG_254t1:c.1590del NP_005563.1:p.Ile531SerfsTer17
NM_170707.3:c.1590del NP_733821.1:p.Ile531SerfsTer17
NM_170708.3:c.1590del NP_733822.1:p.Ile531SerfsTer?
XM_011509533.1:c.1254del XP_011507835.1:p.Ile419SerfsTer17
XM_011509534.1:c.966del XP_011507836.1:p.Ile323SerfsTer17
XR_921781.1:n.1879del
XM_011509534.2:c.966del XP_011507836.1:p.Ile323SerfsTer17
XR_921781.2:n.1877del
NM_170707.4:c.1590del MANE Select NP_733821.1:p.Ile531SerfsTer17
NM_001257374.3:c.1254del NP_001244303.1:p.Ile419SerfsTer17
NM_001282626.2:c.1590del NP_001269555.1:p.Ile531SerfsTer17
NM_001282624.2:c.1347del NP_001269553.1:p.Ile450SerfsTer17
NM_001282625.2:c.1590del NP_001269554.1:p.Ile531SerfsTer17
NM_005572.4:c.1590del MANE Plus Clinical NP_005563.1:p.Ile531SerfsTer17
NM_170708.4:c.1590del NP_733822.1:p.Ile531SerfsTer?