Canonical Allele Identifier: CA2580611220

Gene: LMNA

Linked Data

• ClinVar Variation Id: 1691500
• ClinVar RCV Id: RCV002466281

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156137173_156137174del , CM000663.2:g.156137173_156137174del	GRCh38
NC_000001.10:g.156106964_156106965del , CM000663.1:g.156106964_156106965del	GRCh37
NC_000001.9:g.154373588_154373589del	NCBI36
NG_008692.2:g.59601_59602del , LRG_254:g.59601_59602del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504687.7:c.991_992del	ENSP00000426535.3:p.Gln331GlufsTer?
ENST00000459904.2:n.797_798del
ENST00000498722.3:n.781_782del
ENST00000682650.1:c.1549_1550del	ENSP00000506904.1:p.Gln517GlufsTer?
ENST00000683032.1:c.1549_1550del	ENSP00000506771.1:p.Gln517GlufsTer?
ENST00000684195.1:c.1549_1550del	ENSP00000508220.1:p.Gln517GlufsTer21
ENST00000361308.9:c.1549_1550del	ENSP00000355292.6:p.Gln517GlufsTer?
ENST00000368300.9:c.1549_1550del MANE Select	ENSP00000357283.4:p.Gln517GlufsTer?
ENST00000496738.6:n.2008_2009del
ENST00000674518.1:c.*899_*900del	ENSP00000502261.1:n.*899_*900del
ENST00000674600.1:c.*1348_*1349del	ENSP00000501666.1:n.*1348_*1349del
ENST00000674720.1:c.*111_*112del	ENSP00000502798.1:n.*111_*112del
ENST00000675431.1:n.1242_1243del
ENST00000675455.1:c.*1349_*1350del	ENSP00000501795.1:n.*1349_*1350del
ENST00000675667.1:c.1549_1550del	ENSP00000501803.1:p.Gln517GlufsTer?
ENST00000675874.1:c.*1020_*1021del	ENSP00000501851.1:n.*1020_*1021del
ENST00000675881.1:c.*560_*561del	ENSP00000501670.1:n.*560_*561del
ENST00000675939.1:c.1549_1550del	ENSP00000502256.1:p.Gln517GlufsTer?
ENST00000675989.1:n.2408_2409del
ENST00000676208.1:c.*652_*653del	ENSP00000502468.1:n.*652_*653del
ENST00000676283.1:n.1924_1925del
ENST00000676385.2:c.1549_1550del	ENSP00000502091.1:p.Gln517GlufsTer?
ENST00000676434.1:c.*560_*561del	ENSP00000501648.1:n.*560_*561del
ENST00000677389.1:c.1549_1550del MANE Plus Clinical	ENSP00000503633.1:p.Gln517GlufsTer?
ENST00000347559.6:c.1549_1550del	ENSP00000292304.3:p.Gln517GlufsTer?
ENST00000361308.8:c.1312-18_1312-17del	ENSP00000355292.5:n.1312-18_1312-17del
ENST00000368297.5:c.1306_1307del	ENSP00000357280.1:p.Gln436GlufsTer?
ENST00000368298.2:n.1381_1382del
ENST00000368299.7:c.1549_1550del	ENSP00000357282.3:p.Gln517GlufsTer?
ENST00000368300.8:c.1549_1550del	ENSP00000357283.4:p.Gln517GlufsTer?
ENST00000368301.6:c.1549_1550del	ENSP00000357284.2:p.Gln517GlufsTer?
ENST00000448611.6:c.1213_1214del	ENSP00000395597.2:p.Gln405GlufsTer?
ENST00000459904.1:n.797_798del
ENST00000473598.6:c.1252_1253del	ENSP00000421821.1:p.Gln418GlufsTer?
ENST00000496738.5:n.1018_1019del
ENST00000498722.2:n.781_782del
ENST00000508500.1:c.427_428del	ENSP00000424977.1:p.Gln143GlufsTer?
NM_001257374.2:c.1213_1214del	NP_001244303.1:p.Gln405GlufsTer?
NM_001282624.1:c.1306_1307del	NP_001269553.1:p.Gln436GlufsTer?
NM_001282625.1:c.1549_1550del	NP_001269554.1:p.Gln517GlufsTer?
NM_001282626.1:c.1549_1550del	NP_001269555.1:p.Gln517GlufsTer?
NM_005572.3:c.1549_1550del , LRG_254t1:c.1549_1550del	NP_005563.1:p.Gln517GlufsTer?
NM_170707.3:c.1549_1550del	NP_733821.1:p.Gln517GlufsTer?
NM_170708.3:c.1549_1550del	NP_733822.1:p.Gln517GlufsTer?
XM_011509533.1:c.1213_1214del	XP_011507835.1:p.Gln405GlufsTer?
XM_011509534.1:c.925_926del	XP_011507836.1:p.Gln309GlufsTer?
XR_921781.1:n.1838_1839del
XM_011509534.2:c.925_926del	XP_011507836.1:p.Gln309GlufsTer?
XR_921781.2:n.1836_1837del
NM_170707.4:c.1549_1550del MANE Select	NP_733821.1:p.Gln517GlufsTer?
NM_001257374.3:c.1213_1214del	NP_001244303.1:p.Gln405GlufsTer?
NM_001282626.2:c.1549_1550del	NP_001269555.1:p.Gln517GlufsTer?
NM_001282624.2:c.1306_1307del	NP_001269553.1:p.Gln436GlufsTer?
NM_001282625.2:c.1549_1550del	NP_001269554.1:p.Gln517GlufsTer?
NM_005572.4:c.1549_1550del MANE Plus Clinical	NP_005563.1:p.Gln517GlufsTer?
NM_170708.4:c.1549_1550del	NP_733822.1:p.Gln517GlufsTer?