Canonical Allele Identifier: CA16616999
Gene: LMNA HGNC NCBI

Linked Data

ClinVar Variation Id: 419455
ClinVar RCV Id: RCV000486297
dbSNP Id: rs1064793882
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156115082_156115086delinsTCT , CM000663.2:g.156115082_156115086delinsTCT GRCh38
NC_000001.10:g.156084873_156084877delinsTCT , CM000663.1:g.156084873_156084877delinsTCT GRCh37
NC_000001.9:g.154351497_154351501delinsTCT NCBI36
NG_008692.2:g.37510_37514delinsTCT , LRG_254:g.37510_37514delinsTCT

Transcript Alleles

HGVS Amino-acid change
ENST00000682650.1:c.164_168delinsTCT ENSP00000506904.1:p.Glu55ValfsTer12
ENST00000683032.1:c.164_168delinsTCT ENSP00000506771.1:p.Glu55ValfsTer12
ENST00000684195.1:c.164_168delinsTCT ENSP00000508220.1:p.Glu55ValfsTer12
ENST00000361308.9:c.164_168delinsTCT ENSP00000355292.6:p.Glu55ValfsTer12
ENST00000368300.9:c.164_168delinsTCT MANE Select ENSP00000357283.4:p.Glu55ValfsTer12
ENST00000496738.6:n.539_543delinsTCT
ENST00000674518.1:c.164_168delinsTCT ENSP00000502261.1:p.Glu55ValfsTer12
ENST00000674600.1:c.164_168delinsTCT ENSP00000501666.1:p.Glu55ValfsTer12
ENST00000674720.1:c.164_168delinsTCT ENSP00000502798.1:p.Glu55ValfsTer12
ENST00000675455.1:c.84-9_84-5delinsTCT ENSP00000501795.1:n.84-9_84-5delinsTCT
ENST00000675667.1:c.164_168delinsTCT ENSP00000501803.1:p.Glu55ValfsTer12
ENST00000675874.1:c.164_168delinsTCT ENSP00000501851.1:p.Glu55ValfsTer12
ENST00000675881.1:c.164_168delinsTCT ENSP00000501670.1:p.Glu55ValfsTer12
ENST00000675939.1:c.164_168delinsTCT ENSP00000502256.1:p.Glu55ValfsTer12
ENST00000675989.1:n.539_543delinsTCT
ENST00000676208.1:c.164_168delinsTCT ENSP00000502468.1:p.Glu55ValfsTer12
ENST00000676283.1:n.539_543delinsTCT
ENST00000676385.2:c.164_168delinsTCT ENSP00000502091.1:p.Glu55ValfsTer12
ENST00000676434.1:c.164_168delinsTCT ENSP00000501648.1:p.Glu55ValfsTer12
ENST00000677389.1:c.164_168delinsTCT MANE Plus Clinical ENSP00000503633.1:p.Glu55ValfsTer12
ENST00000347559.6:c.164_168delinsTCT ENSP00000292304.3:p.Glu55ValfsTer12
ENST00000361308.8:c.164_168delinsTCT ENSP00000355292.5:p.Glu55ValfsTer12
ENST00000368299.7:c.164_168delinsTCT ENSP00000357282.3:p.Glu55ValfsTer12
ENST00000368300.8:c.164_168delinsTCT ENSP00000357283.4:p.Glu55ValfsTer12
ENST00000368301.6:c.164_168delinsTCT ENSP00000357284.2:p.Glu55ValfsTer12
ENST00000469565.6:n.198_202delinsTCT
ENST00000470199.2:n.356+16_356+20delinsTCT
ENST00000502751.5:n.329-15535_329-15531delinsTCT
NM_001282625.1:c.164_168delinsTCT NP_001269554.1:p.Glu55ValfsTer12
NM_001282626.1:c.164_168delinsTCT NP_001269555.1:p.Glu55ValfsTer12
NM_005572.3:c.164_168delinsTCT , LRG_254t1:c.164_168delinsTCT NP_005563.1:p.Glu55ValfsTer12
NM_170707.3:c.164_168delinsTCT NP_733821.1:p.Glu55ValfsTer12
NM_170708.3:c.164_168delinsTCT NP_733822.1:p.Glu55ValfsTer12
XR_921781.1:n.413_417delinsTCT
XR_921781.2:n.411_415delinsTCT
NM_170707.4:c.164_168delinsTCT MANE Select NP_733821.1:p.Glu55ValfsTer12
NM_001282626.2:c.164_168delinsTCT NP_001269555.1:p.Glu55ValfsTer12
NM_001282625.2:c.164_168delinsTCT NP_001269554.1:p.Glu55ValfsTer12
NM_005572.4:c.164_168delinsTCT MANE Plus Clinical NP_005563.1:p.Glu55ValfsTer12
NM_170708.4:c.164_168delinsTCT NP_733822.1:p.Glu55ValfsTer12
Search 100 bp 5'
Search 100 bp 3'