Canonical Allele Identifier: CA018896
Gene: LMNA HGNC NCBI

Linked Data

ClinVar Variation Id: 48095
dbSNP Id: rs397517915

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156135922del , CM000663.2:g.156135922del GRCh38
NC_000001.10:g.156105713del , CM000663.1:g.156105713del GRCh37
NC_000001.9:g.154372337del NCBI36
NG_008692.2:g.58350del , LRG_254:g.58350del

Transcript Alleles

HGVS Amino-acid change
ENST00000504687.7:c.400del ENSP00000426535.3:p.Leu134PhefsTer?
ENST00000498722.3:n.190del
ENST00000682650.1:c.958del ENSP00000506904.1:p.Leu320PhefsTer?
ENST00000683032.1:c.958del ENSP00000506771.1:p.Leu320PhefsTer?
ENST00000684195.1:c.958del ENSP00000508220.1:p.Leu320PhefsTer?
ENST00000361308.9:c.958del ENSP00000355292.6:p.Leu320PhefsTer?
ENST00000368300.9:c.958del MANE Select ENSP00000357283.4:p.Leu320PhefsTer?
ENST00000496738.6:n.1333del
ENST00000674518.1:c.*308del ENSP00000502261.1:n.*308del
ENST00000674600.1:c.*757del ENSP00000501666.1:n.*757del
ENST00000674720.1:c.958del ENSP00000502798.1:p.Leu320PhefsTer?
ENST00000675431.1:n.651del
ENST00000675455.1:c.*758del ENSP00000501795.1:n.*758del
ENST00000675667.1:c.958del ENSP00000501803.1:p.Leu320PhefsTer?
ENST00000675874.1:c.*429del ENSP00000501851.1:n.*429del
ENST00000675881.1:c.998del ENSP00000501670.1:p.Ala333ValfsTer?
ENST00000675939.1:c.958del ENSP00000502256.1:p.Leu320PhefsTer?
ENST00000675989.1:n.1333del
ENST00000676208.1:c.998del ENSP00000502468.1:p.Ala333ValfsTer?
ENST00000676283.1:n.1333del
ENST00000676385.2:c.958del ENSP00000502091.1:p.Leu320PhefsTer?
ENST00000676434.1:c.998del ENSP00000501648.1:p.Ala333ValfsTer?
ENST00000677389.1:c.958del MANE Plus Clinical ENSP00000503633.1:p.Leu320PhefsTer?
ENST00000347559.6:c.958del ENSP00000292304.3:p.Leu320PhefsTer?
ENST00000361308.8:c.958del ENSP00000355292.5:p.Leu320PhefsTer?
ENST00000368297.5:c.715del ENSP00000357280.1:p.Leu239PhefsTer?
ENST00000368298.2:n.222del
ENST00000368299.7:c.958del ENSP00000357282.3:p.Leu320PhefsTer?
ENST00000368300.8:c.958del ENSP00000357283.4:p.Leu320PhefsTer?
ENST00000368301.6:c.958del ENSP00000357284.2:p.Leu320PhefsTer?
ENST00000448611.6:c.622del ENSP00000395597.2:p.Leu208PhefsTer?
ENST00000473598.6:c.661del ENSP00000421821.1:p.Leu221PhefsTer?
ENST00000496738.5:n.343del
ENST00000498722.2:n.190del
NM_001257374.2:c.622del NP_001244303.1:p.Leu208PhefsTer?
NM_001282624.1:c.715del NP_001269553.1:p.Leu239PhefsTer?
NM_001282625.1:c.958del NP_001269554.1:p.Leu320PhefsTer?
NM_001282626.1:c.958del NP_001269555.1:p.Leu320PhefsTer?
NM_005572.3:c.958del , LRG_254t1:c.958del NP_005563.1:p.Leu320PhefsTer?
NM_170707.3:c.958del NP_733821.1:p.Leu320PhefsTer?
NM_170708.3:c.958del NP_733822.1:p.Leu320PhefsTer?
XM_011509533.1:c.622del XP_011507835.1:p.Leu208PhefsTer?
XM_011509534.1:c.334del XP_011507836.1:p.Leu112PhefsTer?
XR_921781.1:n.1247del
XM_011509534.2:c.334del XP_011507836.1:p.Leu112PhefsTer?
XR_921781.2:n.1245del
NM_170707.4:c.958del MANE Select NP_733821.1:p.Leu320PhefsTer?
NM_001257374.3:c.622del NP_001244303.1:p.Leu208PhefsTer?
NM_001282626.2:c.958del NP_001269555.1:p.Leu320PhefsTer?
NM_001282624.2:c.715del NP_001269553.1:p.Leu239PhefsTer?
NM_001282625.2:c.958del NP_001269554.1:p.Leu320PhefsTer?
NM_005572.4:c.958del MANE Plus Clinical NP_005563.1:p.Leu320PhefsTer?
NM_170708.4:c.958del NP_733822.1:p.Leu320PhefsTer?