Canonical Allele Identifier: CA16617002
Gene: LMNA HGNC NCBI

Linked Data

ClinVar Variation Id: 419142
ClinVar RCV Id: RCV000487091
dbSNP Id: rs1064793674

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156137674_156137681del , CM000663.2:g.156137674_156137681del GRCh38
NC_000001.10:g.156107465_156107472del , CM000663.1:g.156107465_156107472del GRCh37
NC_000001.9:g.154374089_154374096del NCBI36
NG_008692.2:g.60102_60109del , LRG_254:g.60102_60109del

Transcript Alleles

HGVS Amino-acid change
ENST00000504687.7:c.1071_1078del ENSP00000426535.3:p.Val358SerfsTer5
ENST00000498722.3:n.861_868del
ENST00000682650.1:c.1608+442_1608+449del ENSP00000506904.1:n.1608+442_1608+449del
ENST00000683032.1:c.1629_1636del ENSP00000506771.1:p.Val544SerfsTer5
ENST00000684195.1:c.1600_1607del ENSP00000508220.1:p.Gly534GlnfsTer2
ENST00000361308.9:c.1629_1636del ENSP00000355292.6:p.Val544SerfsTer5
ENST00000368300.9:c.1629_1636del MANE Select ENSP00000357283.4:p.Val544SerfsTer5
ENST00000496738.6:n.2088_2095del
ENST00000674518.1:c.*979_*986del ENSP00000502261.1:n.*979_*986del
ENST00000674600.1:c.*1428_*1435del ENSP00000501666.1:n.*1428_*1435del
ENST00000674720.1:c.*191_*198del ENSP00000502798.1:n.*191_*198del
ENST00000675431.1:n.1322_1329del
ENST00000675455.1:c.*1429_*1436del ENSP00000501795.1:n.*1429_*1436del
ENST00000675667.1:c.1629_1636del ENSP00000501803.1:p.Val544SerfsTer5
ENST00000675874.1:c.*1100_*1107del ENSP00000501851.1:n.*1100_*1107del
ENST00000675881.1:c.*640_*647del ENSP00000501670.1:n.*640_*647del
ENST00000675939.1:c.1629_1636del ENSP00000502256.1:p.Val544SerfsTer5
ENST00000675989.1:n.2488_2495del
ENST00000676208.1:c.*732_*739del ENSP00000502468.1:n.*732_*739del
ENST00000676283.1:n.2425_2432del
ENST00000676385.2:c.1608+442_1608+449del ENSP00000502091.1:n.1608+442_1608+449del
ENST00000676434.1:c.*640_*647del ENSP00000501648.1:n.*640_*647del
ENST00000677389.1:c.1629_1636del MANE Plus Clinical ENSP00000503633.1:p.Val544SerfsTer5
ENST00000347559.6:c.1608+442_1608+449del ENSP00000292304.3:n.1608+442_1608+449del
ENST00000361308.8:c.1374_1381del ENSP00000355292.5:p.Val459SerfsTer5
ENST00000368297.5:c.1386_1393del ENSP00000357280.1:p.Val463SerfsTer5
ENST00000368299.7:c.1629_1636del ENSP00000357282.3:p.Val544SerfsTer5
ENST00000368300.8:c.1629_1636del ENSP00000357283.4:p.Val544SerfsTer5
ENST00000368301.6:c.1629_1636del ENSP00000357284.2:p.Val544SerfsTer5
ENST00000448611.6:c.1293_1300del ENSP00000395597.2:p.Val432SerfsTer5
ENST00000473598.6:c.1332_1339del ENSP00000421821.1:p.Val445SerfsTer5
ENST00000496738.5:n.1098_1105del
ENST00000498722.2:n.861_868del
ENST00000506981.1:n.213_220del
ENST00000508500.1:c.486+442_486+449del ENSP00000424977.1:n.486+442_486+449del
NM_001257374.2:c.1293_1300del NP_001244303.1:p.Val432SerfsTer5
NM_001282624.1:c.1386_1393del NP_001269553.1:p.Val463SerfsTer5
NM_001282625.1:c.1629_1636del NP_001269554.1:p.Val544SerfsTer5
NM_001282626.1:c.1629_1636del NP_001269555.1:p.Val544SerfsTer5
NM_005572.3:c.1629_1636del , LRG_254t1:c.1629_1636del NP_005563.1:p.Val544SerfsTer5
NM_170707.3:c.1629_1636del NP_733821.1:p.Val544SerfsTer5
NM_170708.3:c.1608+442_1608+449del NP_733822.1:n.1608+442_1608+449del
XM_011509533.1:c.1293_1300del XP_011507835.1:p.Val432SerfsTer5
XM_011509534.1:c.1005_1012del XP_011507836.1:p.Val336SerfsTer5
XR_921781.1:n.1918_1925del
XM_011509534.2:c.1005_1012del XP_011507836.1:p.Val336SerfsTer5
XR_921781.2:n.1916_1923del
NM_170707.4:c.1629_1636del MANE Select NP_733821.1:p.Val544SerfsTer5
NM_001257374.3:c.1293_1300del NP_001244303.1:p.Val432SerfsTer5
NM_001282626.2:c.1629_1636del NP_001269555.1:p.Val544SerfsTer5
NM_001282624.2:c.1386_1393del NP_001269553.1:p.Val463SerfsTer5
NM_001282625.2:c.1629_1636del NP_001269554.1:p.Val544SerfsTer5
NM_005572.4:c.1629_1636del MANE Plus Clinical NP_005563.1:p.Val544SerfsTer5
NM_170708.4:c.1608+442_1608+449del NP_733822.1:n.1608+442_1608+449del