Canonical Allele Identifier: CA017357

Gene: LMNA

Linked Data

• ClinVar Variation Id: 66837
• ClinVar RCV Id: RCV000057311
• dbSNP Id: rs60556110
• MyVariant Identifiers: chr1:g.156106908del (hg19) ; chr1:g.156137117del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156137119del , CM000663.2:g.156137119del	GRCh38
NC_000001.10:g.156106910del , CM000663.1:g.156106910del	GRCh37
NC_000001.9:g.154373534del	NCBI36
NG_008692.2:g.59547del , LRG_254:g.59547del

Transcript Alleles

HGVS	Amino-acid change
ENST00000504687.7:c.937del	ENSP00000426535.3:p.Ala313LeufsTer?
ENST00000459904.2:n.743del
ENST00000498722.3:n.727del
ENST00000682650.1:c.1495del	ENSP00000506904.1:p.Ala499LeufsTer?
ENST00000683032.1:c.1495del	ENSP00000506771.1:p.Ala499LeufsTer?
ENST00000684195.1:c.1495del	ENSP00000508220.1:p.Ala499LeufsTer?
ENST00000361308.9:c.1495del	ENSP00000355292.6:p.Ala499LeufsTer?
ENST00000368300.9:c.1495del MANE Select	ENSP00000357283.4:p.Ala499LeufsTer?
ENST00000496738.6:n.1954del
ENST00000674518.1:c.*845del	ENSP00000502261.1:n.*845del
ENST00000674600.1:c.*1294del	ENSP00000501666.1:n.*1294del
ENST00000674720.1:c.*57del	ENSP00000502798.1:n.*57del
ENST00000675431.1:n.1188del
ENST00000675455.1:c.*1295del	ENSP00000501795.1:n.*1295del
ENST00000675667.1:c.1495del	ENSP00000501803.1:p.Ala499LeufsTer?
ENST00000675874.1:c.*966del	ENSP00000501851.1:n.*966del
ENST00000675881.1:c.*506del	ENSP00000501670.1:n.*506del
ENST00000675939.1:c.1495del	ENSP00000502256.1:p.Ala499LeufsTer?
ENST00000675989.1:n.2354del
ENST00000676208.1:c.*598del	ENSP00000502468.1:n.*598del
ENST00000676283.1:n.1870del
ENST00000676385.2:c.1495del	ENSP00000502091.1:p.Ala499LeufsTer?
ENST00000676434.1:c.*506del	ENSP00000501648.1:n.*506del
ENST00000677389.1:c.1495del MANE Plus Clinical	ENSP00000503633.1:p.Ala499LeufsTer?
ENST00000347559.6:c.1495del	ENSP00000292304.3:p.Ala499LeufsTer?
ENST00000361308.8:c.1312-72del	ENSP00000355292.5:n.1312-72del
ENST00000368297.5:c.1252del	ENSP00000357280.1:p.Ala418LeufsTer?
ENST00000368298.2:n.1327del
ENST00000368299.7:c.1495del	ENSP00000357282.3:p.Ala499LeufsTer?
ENST00000368300.8:c.1495del	ENSP00000357283.4:p.Ala499LeufsTer?
ENST00000368301.6:c.1495del	ENSP00000357284.2:p.Ala499LeufsTer?
ENST00000448611.6:c.1159del	ENSP00000395597.2:p.Ala387LeufsTer?
ENST00000459904.1:n.743del
ENST00000473598.6:c.1198del	ENSP00000421821.1:p.Ala400LeufsTer?
ENST00000496738.5:n.964del
ENST00000498722.2:n.727del
ENST00000508500.1:c.373del	ENSP00000424977.1:p.Ala125LeufsTer?
NM_001257374.2:c.1159del	NP_001244303.1:p.Ala387LeufsTer?
NM_001282624.1:c.1252del	NP_001269553.1:p.Ala418LeufsTer?
NM_001282625.1:c.1495del	NP_001269554.1:p.Ala499LeufsTer?
NM_001282626.1:c.1495del	NP_001269555.1:p.Ala499LeufsTer?
NM_005572.3:c.1495del , LRG_254t1:c.1495del	NP_005563.1:p.Ala499LeufsTer?
NM_170707.3:c.1495del	NP_733821.1:p.Ala499LeufsTer?
NM_170708.3:c.1495del	NP_733822.1:p.Ala499LeufsTer?
XM_011509533.1:c.1159del	XP_011507835.1:p.Ala387LeufsTer?
XM_011509534.1:c.871del	XP_011507836.1:p.Ala291LeufsTer?
XR_921781.1:n.1784del
XM_011509534.2:c.871del	XP_011507836.1:p.Ala291LeufsTer?
XR_921781.2:n.1782del
NM_170707.4:c.1495del MANE Select	NP_733821.1:p.Ala499LeufsTer?
NM_001257374.3:c.1159del	NP_001244303.1:p.Ala387LeufsTer?
NM_001282626.2:c.1495del	NP_001269555.1:p.Ala499LeufsTer?
NM_001282624.2:c.1252del	NP_001269553.1:p.Ala418LeufsTer?
NM_001282625.2:c.1495del	NP_001269554.1:p.Ala499LeufsTer?
NM_005572.4:c.1495del MANE Plus Clinical	NP_005563.1:p.Ala499LeufsTer?
NM_170708.4:c.1495del	NP_733822.1:p.Ala499LeufsTer?