Canonical Allele Identifier: CA658795542

Gene: LMNA

Linked Data

• ClinVar Variation Id: 518817
• ClinVar RCV Id: RCV000622044 ; RCV000822504 ; RCV001185275 ; RCV002498997
• dbSNP Id: rs1553266553

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156138662_156138663delinsCC , CM000663.2:g.156138662_156138663delinsCC	GRCh38
NC_000001.10:g.156108453_156108454delinsCC , CM000663.1:g.156108453_156108454delinsCC	GRCh37
NC_000001.9:g.154375077_154375078delinsCC	NCBI36
NG_008692.2:g.61090_61091delinsCC , LRG_254:g.61090_61091delinsCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000504687.7:c.1315_1316delinsCC	ENSP00000426535.3:p.Ser439Pro
ENST00000682650.1:c.1783_1784delinsCC	ENSP00000506904.1:p.Ser595Pro
ENST00000683032.1:c.1873_1874delinsCC	ENSP00000506771.1:p.Ser625Pro
ENST00000683773.1:n.163+55_163+56delinsCC
ENST00000684195.1:c.*965_*966delinsCC	ENSP00000508220.1:n.*965_*966delinsCC
ENST00000361308.9:c.1873_1874delinsCC	ENSP00000355292.6:p.Ser625Pro
ENST00000368300.9:c.1873_1874delinsCC MANE Select	ENSP00000357283.4:p.Ser625Pro
ENST00000674518.1:c.*1223_*1224delinsCC	ENSP00000502261.1:n.*1223_*1224delinsCC
ENST00000674600.1:c.*1672_*1673delinsCC	ENSP00000501666.1:n.*1672_*1673delinsCC
ENST00000675455.1:c.*1673_*1674delinsCC	ENSP00000501795.1:n.*1673_*1674delinsCC
ENST00000675667.1:c.1873_1874delinsCC	ENSP00000501803.1:p.Ser625Pro
ENST00000675874.1:c.*1344_*1345delinsCC	ENSP00000501851.1:n.*1344_*1345delinsCC
ENST00000675881.1:c.*884_*885delinsCC	ENSP00000501670.1:n.*884_*885delinsCC
ENST00000675939.1:c.1873_1874delinsCC	ENSP00000502256.1:p.Ser625Pro
ENST00000675989.1:n.3476_3477delinsCC
ENST00000676208.1:c.*976_*977delinsCC	ENSP00000502468.1:n.*976_*977delinsCC
ENST00000676385.2:c.1783_1784delinsCC	ENSP00000502091.1:p.Ser595Pro
ENST00000676434.1:c.*1628_*1629delinsCC	ENSP00000501648.1:n.*1628_*1629delinsCC
ENST00000347559.6:c.1783_1784delinsCC	ENSP00000292304.3:p.Ser595Pro
ENST00000368299.7:c.1818+55_1818+56delinsCC	ENSP00000357282.3:n.1818+55_1818+56delins...
ENST00000368300.8:c.1873_1874delinsCC	ENSP00000357283.4:p.Ser625Pro
ENST00000448611.6:c.1537_1538delinsCC	ENSP00000395597.2:p.Ser513Pro
ENST00000473598.6:c.1576_1577delinsCC	ENSP00000421821.1:p.Ser526Pro
ENST00000496738.5:n.2086_2087delinsCC
ENST00000506981.1:n.457_458delinsCC
ENST00000508500.1:c.661_662delinsCC	ENSP00000424977.1:p.Ser221Pro
NM_001257374.2:c.1537_1538delinsCC	NP_001244303.1:p.Ser513Pro
NM_001282626.1:c.1818+55_1818+56delinsCC	NP_001269555.1:n.1818+55_1818+56delinsCC
NM_170707.3:c.1873_1874delinsCC	NP_733821.1:p.Ser625Pro
NM_170708.3:c.1783_1784delinsCC	NP_733822.1:p.Ser595Pro
XM_011509533.1:c.1537_1538delinsCC	XP_011507835.1:p.Ser513Pro
XM_011509534.1:c.1249_1250delinsCC	XP_011507836.1:p.Ser417Pro
XR_921781.1:n.2162_2163delinsCC
XM_011509534.2:c.1249_1250delinsCC	XP_011507836.1:p.Ser417Pro
XR_921781.2:n.2160_2161delinsCC
NM_170707.4:c.1873_1874delinsCC MANE Select	NP_733821.1:p.Ser625Pro
NM_001257374.3:c.1537_1538delinsCC	NP_001244303.1:p.Ser513Pro
NM_001282626.2:c.1818+55_1818+56delinsCC	NP_001269555.1:n.1818+55_1818+56delinsCC
NM_170708.4:c.1783_1784delinsCC	NP_733822.1:p.Ser595Pro