Canonical Allele Identifier: CA658656964
Gene: LMNA HGNC NCBI

Linked Data

ClinVar Variation Id: 476818
dbSNP Id: rs1553265660

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156135967del , CM000663.2:g.156135967del GRCh38
NC_000001.10:g.156105758del , CM000663.1:g.156105758del GRCh37
NC_000001.9:g.154372382del NCBI36
NG_008692.2:g.58395del , LRG_254:g.58395del

Transcript Alleles

HGVS Amino-acid Change
ENST00000504687.7:c.445del ENSP00000426535.3:p.Arg149GlyfsTer?
ENST00000498722.3:n.235del
ENST00000682650.1:c.1003del ENSP00000506904.1:p.Arg335GlyfsTer?
ENST00000683032.1:c.1003del ENSP00000506771.1:p.Arg335GlyfsTer?
ENST00000684195.1:c.1003del ENSP00000508220.1:p.Arg335GlyfsTer?
ENST00000361308.9:c.1003del ENSP00000355292.6:p.Arg335GlyfsTer?
ENST00000368300.9:c.1003del MANE Select ENSP00000357283.4:p.Arg335GlyfsTer?
ENST00000496738.6:n.1378del
ENST00000674518.1:c.*353del ENSP00000502261.1:n.*353del
ENST00000674600.1:c.*802del ENSP00000501666.1:n.*802del
ENST00000674720.1:c.1003del ENSP00000502798.1:p.Arg335GlyfsTer?
ENST00000675431.1:n.696del
ENST00000675455.1:c.*803del ENSP00000501795.1:n.*803del
ENST00000675667.1:c.1003del ENSP00000501803.1:p.Arg335GlyfsTer?
ENST00000675874.1:c.*474del ENSP00000501851.1:n.*474del
ENST00000675881.1:c.*14del ENSP00000501670.1:n.*14del
ENST00000675939.1:c.1003del ENSP00000502256.1:p.Arg335GlyfsTer?
ENST00000675989.1:n.1378del
ENST00000676208.1:c.*14del ENSP00000502468.1:n.*14del
ENST00000676283.1:n.1378del
ENST00000676385.2:c.1003del ENSP00000502091.1:p.Arg335GlyfsTer?
ENST00000676434.1:c.*14del ENSP00000501648.1:n.*14del
ENST00000677389.1:c.1003del MANE Plus Clinical ENSP00000503633.1:p.Arg335GlyfsTer?
ENST00000347559.6:c.1003del ENSP00000292304.3:p.Arg335GlyfsTer?
ENST00000361308.8:c.1003del ENSP00000355292.5:p.Arg335GlyfsTer?
ENST00000368297.5:c.760del ENSP00000357280.1:p.Arg254GlyfsTer?
ENST00000368298.2:n.267del
ENST00000368299.7:c.1003del ENSP00000357282.3:p.Arg335GlyfsTer?
ENST00000368300.8:c.1003del ENSP00000357283.4:p.Arg335GlyfsTer?
ENST00000368301.6:c.1003del ENSP00000357284.2:p.Arg335GlyfsTer?
ENST00000448611.6:c.667del ENSP00000395597.2:p.Arg223GlyfsTer?
ENST00000473598.6:c.706del ENSP00000421821.1:p.Arg236GlyfsTer?
ENST00000496738.5:n.388del
ENST00000498722.2:n.235del
NM_001257374.2:c.667del NP_001244303.1:p.Arg223GlyfsTer?
NM_001282624.1:c.760del NP_001269553.1:p.Arg254GlyfsTer?
NM_001282625.1:c.1003del NP_001269554.1:p.Arg335GlyfsTer?
NM_001282626.1:c.1003del NP_001269555.1:p.Arg335GlyfsTer?
NM_005572.3:c.1003del , LRG_254t1:c.1003del NP_005563.1:p.Arg335GlyfsTer?
NM_170707.3:c.1003del NP_733821.1:p.Arg335GlyfsTer?
NM_170708.3:c.1003del NP_733822.1:p.Arg335GlyfsTer?
XM_011509533.1:c.667del XP_011507835.1:p.Arg223GlyfsTer?
XM_011509534.1:c.379del XP_011507836.1:p.Arg127GlyfsTer?
XR_921781.1:n.1292del
XM_011509534.2:c.379del XP_011507836.1:p.Arg127GlyfsTer?
XR_921781.2:n.1290del
NM_170707.4:c.1003del MANE Select NP_733821.1:p.Arg335GlyfsTer?
NM_001257374.3:c.667del NP_001244303.1:p.Arg223GlyfsTer?
NM_001282626.2:c.1003del NP_001269555.1:p.Arg335GlyfsTer?
NM_001282624.2:c.760del NP_001269553.1:p.Arg254GlyfsTer?
NM_001282625.2:c.1003del NP_001269554.1:p.Arg335GlyfsTer?
NM_005572.4:c.1003del MANE Plus Clinical NP_005563.1:p.Arg335GlyfsTer?
NM_170708.4:c.1003del NP_733822.1:p.Arg335GlyfsTer?