Canonical Allele Identifier: CA16617003
Gene: LMNA HGNC NCBI

Linked Data

ClinVar Variation Id: 423384
dbSNP Id: rs1064796394

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156138608del , CM000663.2:g.156138608del GRCh38
NC_000001.10:g.156108399del , CM000663.1:g.156108399del GRCh37
NC_000001.9:g.154375023del NCBI36
NG_008692.2:g.61036del , LRG_254:g.61036del

Transcript Alleles

HGVS Amino-acid change
ENST00000504687.7:c.1261del ENSP00000426535.3:p.Val421TrpfsTer?
ENST00000682650.1:c.1729del ENSP00000506904.1:p.Val577TrpfsTer?
ENST00000683032.1:c.1819del ENSP00000506771.1:p.Val607TrpfsTer?
ENST00000683773.1:n.163+1del
ENST00000684195.1:c.*911del ENSP00000508220.1:n.*911del
ENST00000361308.9:c.1819del ENSP00000355292.6:p.Val607TrpfsTer?
ENST00000368300.9:c.1819del MANE Select ENSP00000357283.4:p.Val607TrpfsTer?
ENST00000674518.1:c.*1169del ENSP00000502261.1:n.*1169del
ENST00000674600.1:c.*1618del ENSP00000501666.1:n.*1618del
ENST00000675455.1:c.*1619del ENSP00000501795.1:n.*1619del
ENST00000675667.1:c.1819del ENSP00000501803.1:p.Val607TrpfsTer?
ENST00000675874.1:c.*1290del ENSP00000501851.1:n.*1290del
ENST00000675881.1:c.*830del ENSP00000501670.1:n.*830del
ENST00000675939.1:c.1819del ENSP00000502256.1:p.Val607TrpfsTer?
ENST00000675989.1:n.3422del
ENST00000676208.1:c.*922del ENSP00000502468.1:n.*922del
ENST00000676385.2:c.1729del ENSP00000502091.1:p.Val577TrpfsTer?
ENST00000676434.1:c.*1574del ENSP00000501648.1:n.*1574del
ENST00000347559.6:c.1729del ENSP00000292304.3:p.Val577TrpfsTer?
ENST00000368299.7:c.1818+1del
ENST00000368300.8:c.1819del ENSP00000357283.4:p.Val607TrpfsTer?
ENST00000448611.6:c.1483del ENSP00000395597.2:p.Val495TrpfsTer?
ENST00000473598.6:c.1522del ENSP00000421821.1:p.Val508TrpfsTer?
ENST00000496738.5:n.2032del
ENST00000506981.1:n.403del
ENST00000508500.1:c.607del ENSP00000424977.1:p.Val203TrpfsTer?
NM_001257374.2:c.1483del NP_001244303.1:p.Val495TrpfsTer?
NM_001282626.1:c.1818+1del
NM_170707.3:c.1819del NP_733821.1:p.Val607TrpfsTer?
NM_170708.3:c.1729del NP_733822.1:p.Val577TrpfsTer?
XM_011509533.1:c.1483del XP_011507835.1:p.Val495TrpfsTer?
XM_011509534.1:c.1195del XP_011507836.1:p.Val399TrpfsTer?
XR_921781.1:n.2108del
XM_011509534.2:c.1195del XP_011507836.1:p.Val399TrpfsTer?
XR_921781.2:n.2106del
NM_170707.4:c.1819del MANE Select NP_733821.1:p.Val607TrpfsTer?
NM_001257374.3:c.1483del NP_001244303.1:p.Val495TrpfsTer?
NM_001282626.2:c.1818+1del
NM_170708.4:c.1729del NP_733822.1:p.Val577TrpfsTer?