Canonical Allele Identifier: CA2746230272
Gene: LMNA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156138802_156138803del , CM000663.2:g.156138802_156138803del GRCh38
NC_000001.10:g.156108593_156108594del , CM000663.1:g.156108593_156108594del GRCh37
NC_000001.9:g.154375217_154375218del NCBI36
NG_008692.2:g.61230_61231del , LRG_254:g.61230_61231del

Transcript Alleles

HGVS Amino-acid Change
ENST00000504687.7:c.1410+45_1410+46del ENSP00000426535.3:n.1410+45_1410+46del
ENST00000682650.1:c.1878+45_1878+46del ENSP00000506904.1:n.1878+45_1878+46del
ENST00000683032.1:c.1968+45_1968+46del ENSP00000506771.1:n.1968+45_1968+46del
ENST00000683773.1:n.163+195_163+196del
ENST00000684195.1:c.*1060+45_*1060+46del ENSP00000508220.1:n.*1060+45_*1060+46del
ENST00000361308.9:c.1968+45_1968+46del ENSP00000355292.6:n.1968+45_1968+46del
ENST00000368300.9:c.1968+45_1968+46del MANE Select ENSP00000357283.4:n.1968+45_1968+46del
ENST00000674518.1:c.*1318+45_*1318+46del ENSP00000502261.1:n.*1318+45_*1318+46del
ENST00000674600.1:c.*1767+45_*1767+46del ENSP00000501666.1:n.*1767+45_*1767+46del
ENST00000675455.1:c.*1768+45_*1768+46del ENSP00000501795.1:n.*1768+45_*1768+46del
ENST00000675667.1:c.2013_2014del ENSP00000501803.1:p.Gly672SerfsTer?
ENST00000675874.1:c.*1439+45_*1439+46del ENSP00000501851.1:n.*1439+45_*1439+46del
ENST00000675881.1:c.*979+45_*979+46del ENSP00000501670.1:n.*979+45_*979+46del
ENST00000675939.1:c.1968+45_1968+46del ENSP00000502256.1:n.1968+45_1968+46del
ENST00000675989.1:n.3571+45_3571+46del
ENST00000676208.1:c.*1071+45_*1071+46del ENSP00000502468.1:n.*1071+45_*1071+46del
ENST00000676385.2:c.1878+45_1878+46del ENSP00000502091.1:n.1878+45_1878+46del
ENST00000676434.1:c.*1768_*1769del ENSP00000501648.1:n.*1768_*1769del
ENST00000347559.6:c.1878+45_1878+46del ENSP00000292304.3:n.1878+45_1878+46del
ENST00000368299.7:c.1818+195_1818+196del ENSP00000357282.3:n.1818+195_1818+196del
ENST00000368300.8:c.1968+45_1968+46del ENSP00000357283.4:n.1968+45_1968+46del
ENST00000448611.6:c.1632+45_1632+46del ENSP00000395597.2:n.1632+45_1632+46del
ENST00000473598.6:c.1671+45_1671+46del ENSP00000421821.1:n.1671+45_1671+46del
ENST00000496738.5:n.2181+45_2181+46del
ENST00000506981.1:n.552+45_552+46del
ENST00000508500.1:c.756+45_756+46del ENSP00000424977.1:n.756+45_756+46del
NM_001257374.2:c.1632+45_1632+46del NP_001244303.1:n.1632+45_1632+46del
NM_001282626.1:c.1818+195_1818+196del NP_001269555.1:n.1818+195_1818+196del
NM_170707.3:c.1968+45_1968+46del NP_733821.1:n.1968+45_1968+46del
NM_170708.3:c.1878+45_1878+46del NP_733822.1:n.1878+45_1878+46del
XM_011509533.1:c.1632+45_1632+46del XP_011507835.1:n.1632+45_1632+46del
XM_011509534.1:c.1344+45_1344+46del XP_011507836.1:n.1344+45_1344+46del
XR_921781.1:n.2257+45_2257+46del
XM_011509534.2:c.1344+45_1344+46del XP_011507836.1:n.1344+45_1344+46del
XR_921781.2:n.2255+45_2255+46del
NM_170707.4:c.1968+45_1968+46del MANE Select NP_733821.1:n.1968+45_1968+46del
NM_001257374.3:c.1632+45_1632+46del NP_001244303.1:n.1632+45_1632+46del
NM_001282626.2:c.1818+195_1818+196del NP_001269555.1:n.1818+195_1818+196del
NM_170708.4:c.1878+45_1878+46del NP_733822.1:n.1878+45_1878+46del