Canonical Allele Identifier: CA2580061171
Gene: LMNA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156115123del , CM000663.2:g.156115123del GRCh38
NC_000001.10:g.156084914del , CM000663.1:g.156084914del GRCh37
NC_000001.9:g.154351538del NCBI36
NG_008692.2:g.37551del , LRG_254:g.37551del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682650.1:c.205del ENSP00000506904.1:p.Val69TrpfsTer27
ENST00000683032.1:c.205del ENSP00000506771.1:p.Val69TrpfsTer27
ENST00000684195.1:c.205del ENSP00000508220.1:p.Val69TrpfsTer27
ENST00000361308.9:c.205del ENSP00000355292.6:p.Val69TrpfsTer27
ENST00000368300.9:c.205del MANE Select ENSP00000357283.4:p.Val69TrpfsTer27
ENST00000496738.6:n.580del
ENST00000674518.1:c.205del ENSP00000502261.1:p.Val69TrpfsTer27
ENST00000674600.1:c.205del ENSP00000501666.1:p.Val69TrpfsTer27
ENST00000674720.1:c.205del ENSP00000502798.1:p.Val69TrpfsTer27
ENST00000675455.1:c.*5del ENSP00000501795.1:n.*5del
ENST00000675667.1:c.205del ENSP00000501803.1:p.Val69TrpfsTer27
ENST00000675874.1:c.205del ENSP00000501851.1:p.Val69TrpfsTer27
ENST00000675881.1:c.205del ENSP00000501670.1:p.Val69TrpfsTer27
ENST00000675939.1:c.205del ENSP00000502256.1:p.Val69TrpfsTer27
ENST00000675989.1:n.580del
ENST00000676208.1:c.205del ENSP00000502468.1:p.Val69TrpfsTer27
ENST00000676283.1:n.580del
ENST00000676385.2:c.205del ENSP00000502091.1:p.Val69TrpfsTer27
ENST00000676434.1:c.205del ENSP00000501648.1:p.Val69TrpfsTer27
ENST00000677389.1:c.205del MANE Plus Clinical ENSP00000503633.1:p.Val69TrpfsTer27
ENST00000347559.6:c.205del ENSP00000292304.3:p.Val69TrpfsTer27
ENST00000361308.8:c.205del ENSP00000355292.5:p.Val69TrpfsTer27
ENST00000368299.7:c.205del ENSP00000357282.3:p.Val69TrpfsTer27
ENST00000368300.8:c.205del ENSP00000357283.4:p.Val69TrpfsTer27
ENST00000368301.6:c.205del ENSP00000357284.2:p.Val69TrpfsTer27
ENST00000469565.6:n.239del
ENST00000470199.2:n.356+57del
ENST00000502751.5:n.329-15494del
NM_001282625.1:c.205del NP_001269554.1:p.Val69TrpfsTer27
NM_001282626.1:c.205del NP_001269555.1:p.Val69TrpfsTer27
NM_005572.3:c.205del , LRG_254t1:c.205del NP_005563.1:p.Val69TrpfsTer27
NM_170707.3:c.205del NP_733821.1:p.Val69TrpfsTer27
NM_170708.3:c.205del NP_733822.1:p.Val69TrpfsTer27
XR_921781.1:n.454del
XR_921781.2:n.452del
NM_170707.4:c.205del MANE Select NP_733821.1:p.Val69TrpfsTer27
NM_001282626.2:c.205del NP_001269555.1:p.Val69TrpfsTer27
NM_001282625.2:c.205del NP_001269554.1:p.Val69TrpfsTer27
NM_005572.4:c.205del MANE Plus Clinical NP_005563.1:p.Val69TrpfsTer27
NM_170708.4:c.205del NP_733822.1:p.Val69TrpfsTer27