Canonical Allele Identifier: CA018324
Gene: LMNA HGNC NCBI

Linked Data

ClinVar Variation Id: 66918
dbSNP Id: rs267607540

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156134513_156134515del , CM000663.2:g.156134513_156134515del GRCh38
NC_000001.10:g.156104304_156104306del , CM000663.1:g.156104304_156104306del GRCh37
NC_000001.9:g.154370928_154370930del NCBI36
NG_008692.2:g.56941_56943del , LRG_254:g.56941_56943del

Transcript Alleles

HGVS Amino-acid change
ENST00000504687.7:c.66_68del ENSP00000426535.3:p.Lys22del
ENST00000682650.1:c.624_626del ENSP00000506904.1:p.Lys208del
ENST00000683032.1:c.624_626del ENSP00000506771.1:p.Lys208del
ENST00000684195.1:c.624_626del ENSP00000508220.1:p.Lys208del
ENST00000361308.9:c.624_626del ENSP00000355292.6:p.Lys208del
ENST00000368300.9:c.624_626del MANE Select ENSP00000357283.4:p.Lys208del
ENST00000496738.6:n.999_1001del
ENST00000504687.6:c.-41_-39del ENSP00000426535.2:n.-41_-39del
ENST00000674518.1:c.624_626del ENSP00000502261.1:p.Lys208del
ENST00000674600.1:c.*423_*425del ENSP00000501666.1:n.*423_*425del
ENST00000674720.1:c.624_626del ENSP00000502798.1:p.Lys208del
ENST00000675431.1:n.317_319del
ENST00000675455.1:c.*424_*426del ENSP00000501795.1:n.*424_*426del
ENST00000675667.1:c.624_626del ENSP00000501803.1:p.Lys208del
ENST00000675874.1:c.*95_*97del ENSP00000501851.1:n.*95_*97del
ENST00000675881.1:c.624_626del ENSP00000501670.1:p.Lys208del
ENST00000675939.1:c.624_626del ENSP00000502256.1:p.Lys208del
ENST00000675989.1:n.999_1001del
ENST00000676208.1:c.624_626del ENSP00000502468.1:p.Lys208del
ENST00000676283.1:n.999_1001del
ENST00000676385.2:c.624_626del ENSP00000502091.1:p.Lys208del
ENST00000676434.1:c.624_626del ENSP00000501648.1:p.Lys208del
ENST00000677389.1:c.624_626del MANE Plus Clinical ENSP00000503633.1:p.Lys208del
ENST00000347559.6:c.624_626del ENSP00000292304.3:p.Lys208del
ENST00000361308.8:c.624_626del ENSP00000355292.5:p.Lys208del
ENST00000368297.5:c.381_383del ENSP00000357280.1:p.Lys127del
ENST00000368299.7:c.624_626del ENSP00000357282.3:p.Lys208del
ENST00000368300.8:c.624_626del ENSP00000357283.4:p.Lys208del
ENST00000368301.6:c.624_626del ENSP00000357284.2:p.Lys208del
ENST00000448611.6:c.288_290del ENSP00000395597.2:p.Lys96del
ENST00000473598.6:c.327_329del ENSP00000421821.1:p.Lys109del
ENST00000502357.5:n.522_524del
ENST00000504687.5:c.375_377del ENSP00000426535.1:p.Lys125del
ENST00000515459.5:c.*298_*300del ENSP00000424518.1:n.*298_*300del
NM_001257374.2:c.288_290del NP_001244303.1:p.Lys96del
NM_001282624.1:c.381_383del NP_001269553.1:p.Lys127del
NM_001282625.1:c.624_626del NP_001269554.1:p.Lys208del
NM_001282626.1:c.624_626del NP_001269555.1:p.Lys208del
NM_005572.3:c.624_626del , LRG_254t1:c.624_626del NP_005563.1:p.Lys208del
NM_170707.3:c.624_626del NP_733821.1:p.Lys208del
NM_170708.3:c.624_626del NP_733822.1:p.Lys208del
XM_011509533.1:c.288_290del XP_011507835.1:p.Lys96del
XM_011509534.1:c.-41_-39del XP_011507836.1:n.-41_-39del
XR_921781.1:n.873_875del
XM_011509534.2:c.-41_-39del XP_011507836.1:n.-41_-39del
XR_921781.2:n.871_873del
NM_170707.4:c.624_626del MANE Select NP_733821.1:p.Lys208del
NM_001257374.3:c.288_290del NP_001244303.1:p.Lys96del
NM_001282626.2:c.624_626del NP_001269555.1:p.Lys208del
NM_001282624.2:c.381_383del NP_001269553.1:p.Lys127del
NM_001282625.2:c.624_626del NP_001269554.1:p.Lys208del
NM_005572.4:c.624_626del MANE Plus Clinical NP_005563.1:p.Lys208del
NM_170708.4:c.624_626del NP_733822.1:p.Lys208del