Canonical Allele Identifier: CA1200473213
Gene: LMNA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156137870_156137875delinsGCTGGC , CM000663.2:g.156137870_156137875delinsGCTGGC GRCh38
NC_000001.10:g.156107661_156107666delinsGCTGGC , CM000663.1:g.156107661_156107666delinsGCTGGC GRCh37
NC_000001.9:g.154374285_154374290delinsGCTGGC NCBI36
NG_008692.2:g.60298_60303delinsGCTGGC , LRG_254:g.60298_60303delinsGCTGGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000504687.7:c.1140+127_1140+132delinsGCTGGC ENSP00000426535.3:n.1140+127_1140+132delinsGCTGGC
ENST00000682650.1:c.1609-618_1609-613delinsGCTGGC ENSP00000506904.1:n.1609-618_1609-613delinsGCTGGC
ENST00000683032.1:c.1698+127_1698+132delinsGCTGGC ENSP00000506771.1:n.1698+127_1698+132delinsGCTGGC
ENST00000683773.1:n.43+127_43+132delinsGCTGGC
ENST00000684195.1:c.*173_*178delinsGCTGGC ENSP00000508220.1:n.*173_*178delinsGCTGGC
ENST00000361308.9:c.1698+127_1698+132delinsGCTGGC ENSP00000355292.6:n.1698+127_1698+132delinsGCTGGC
ENST00000368300.9:c.1698+127_1698+132delinsGCTGGC MANE Select ENSP00000357283.4:n.1698+127_1698+132delinsGCTGGC
ENST00000496738.6:n.2284_2289delinsGCTGGC
ENST00000674518.1:c.*1048+127_*1048+132delinsGCTGGC ENSP00000502261.1:n.*1048+127_*1048+132delinsGCTGGC
ENST00000674600.1:c.*1497+127_*1497+132delinsGCTGGC ENSP00000501666.1:n.*1497+127_*1497+132delinsGCTGGC
ENST00000674720.1:c.*387_*392delinsGCTGGC ENSP00000502798.1:n.*387_*392delinsGCTGGC
ENST00000675455.1:c.*1498+127_*1498+132delinsGCTGGC ENSP00000501795.1:n.*1498+127_*1498+132delinsGCTGGC
ENST00000675667.1:c.1698+127_1698+132delinsGCTGGC ENSP00000501803.1:n.1698+127_1698+132delinsGCTGGC
ENST00000675874.1:c.*1169+127_*1169+132delinsGCTGGC ENSP00000501851.1:n.*1169+127_*1169+132delinsGCTGGC
ENST00000675881.1:c.*709+127_*709+132delinsGCTGGC ENSP00000501670.1:n.*709+127_*709+132delinsGCTGGC
ENST00000675939.1:c.1698+127_1698+132delinsGCTGGC ENSP00000502256.1:n.1698+127_1698+132delinsGCTGGC
ENST00000675989.1:n.2684_2689delinsGCTGGC
ENST00000676208.1:c.*801+127_*801+132delinsGCTGGC ENSP00000502468.1:n.*801+127_*801+132delinsGCTGGC
ENST00000676283.1:n.2621_2626delinsGCTGGC
ENST00000676385.2:c.1609-618_1609-613delinsGCTGGC ENSP00000502091.1:n.1609-618_1609-613delinsGCTGGC
ENST00000676434.1:c.*836_*841delinsGCTGGC ENSP00000501648.1:n.*836_*841delinsGCTGGC
ENST00000347559.6:c.1609-618_1609-613delinsGCTGGC ENSP00000292304.3:n.1609-618_1609-613delinsGCTGGC
ENST00000368299.7:c.1698+127_1698+132delinsGCTGGC ENSP00000357282.3:n.1698+127_1698+132delinsGCTGGC
ENST00000368300.8:c.1698+127_1698+132delinsGCTGGC ENSP00000357283.4:n.1698+127_1698+132delinsGCTGGC
ENST00000448611.6:c.1362+127_1362+132delinsGCTGGC ENSP00000395597.2:n.1362+127_1362+132delinsGCTGGC
ENST00000473598.6:c.1401+127_1401+132delinsGCTGGC ENSP00000421821.1:n.1401+127_1401+132delinsGCTGGC
ENST00000496738.5:n.1294_1299delinsGCTGGC
ENST00000498722.2:n.1057_1062delinsGCTGGC
ENST00000506981.1:n.282+127_282+132delinsGCTGGC
ENST00000508500.1:c.487-618_487-613delinsGCTGGC ENSP00000424977.1:n.487-618_487-613delinsGCTGGC
NM_001257374.2:c.1362+127_1362+132delinsGCTGGC NP_001244303.1:n.1362+127_1362+132delinsGCTGGC
NM_001282626.1:c.1698+127_1698+132delinsGCTGGC NP_001269555.1:n.1698+127_1698+132delinsGCTGGC
NM_170707.3:c.1698+127_1698+132delinsGCTGGC NP_733821.1:n.1698+127_1698+132delinsGCTGGC
NM_170708.3:c.1609-618_1609-613delinsGCTGGC NP_733822.1:n.1609-618_1609-613delinsGCTGGC
XM_011509533.1:c.1362+127_1362+132delinsGCTGGC XP_011507835.1:n.1362+127_1362+132delinsGCTGGC
XM_011509534.1:c.1074+127_1074+132delinsGCTGGC XP_011507836.1:n.1074+127_1074+132delinsGCTGGC
XR_921781.1:n.1987+127_1987+132delinsGCTGGC
XM_011509534.2:c.1074+127_1074+132delinsGCTGGC XP_011507836.1:n.1074+127_1074+132delinsGCTGGC
XR_921781.2:n.1985+127_1985+132delinsGCTGGC
NM_170707.4:c.1698+127_1698+132delinsGCTGGC MANE Select NP_733821.1:n.1698+127_1698+132delinsGCTGGC
NM_001257374.3:c.1362+127_1362+132delinsGCTGGC NP_001244303.1:n.1362+127_1362+132delinsGCTGGC
NM_001282626.2:c.1698+127_1698+132delinsGCTGGC NP_001269555.1:n.1698+127_1698+132delinsGCTGGC
NM_170708.4:c.1609-618_1609-613delinsGCTGGC NP_733822.1:n.1609-618_1609-613delinsGCTGGC