Canonical Allele Identifier: CA2499214211

Gene: LMNA

Linked Data

• ClinVar Variation Id: 1069623
• ClinVar RCV Id: RCV001381551
• dbSNP Id: rs2102878324

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156134415del , CM000663.2:g.156134415del	GRCh38
NC_000001.10:g.156104206del , CM000663.1:g.156104206del	GRCh37
NC_000001.9:g.154370830del	NCBI36
NG_008692.2:g.56843del , LRG_254:g.56843del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504687.7:c.-33del	ENSP00000426535.3:n.-33del
ENST00000682650.1:c.526del	ENSP00000506904.1:p.Leu176Ter
ENST00000683032.1:c.526del	ENSP00000506771.1:p.Leu176Ter
ENST00000684195.1:c.526del	ENSP00000508220.1:p.Leu176Ter
ENST00000361308.9:c.526del	ENSP00000355292.6:p.Leu176Ter
ENST00000368300.9:c.526del MANE Select	ENSP00000357283.4:p.Leu176Ter
ENST00000496738.6:n.901del
ENST00000504687.6:c.-139del	ENSP00000426535.2:n.-139del
ENST00000674518.1:c.526del	ENSP00000502261.1:p.Leu176Ter
ENST00000674600.1:c.*325del	ENSP00000501666.1:n.*325del
ENST00000674720.1:c.526del	ENSP00000502798.1:p.Leu176Ter
ENST00000675431.1:n.219del
ENST00000675455.1:c.*326del	ENSP00000501795.1:n.*326del
ENST00000675667.1:c.526del	ENSP00000501803.1:p.Leu176Ter
ENST00000675874.1:c.369del	ENSP00000501851.1:p.Ter124ArgextTer2
ENST00000675881.1:c.526del	ENSP00000501670.1:p.Leu176Ter
ENST00000675939.1:c.526del	ENSP00000502256.1:p.Leu176Ter
ENST00000675989.1:n.901del
ENST00000676208.1:c.526del	ENSP00000502468.1:p.Leu176Ter
ENST00000676283.1:n.901del
ENST00000676385.2:c.526del	ENSP00000502091.1:p.Leu176Ter
ENST00000676434.1:c.526del	ENSP00000501648.1:p.Leu176Ter
ENST00000677389.1:c.526del MANE Plus Clinical	ENSP00000503633.1:p.Leu176Ter
ENST00000347559.6:c.526del	ENSP00000292304.3:p.Leu176Ter
ENST00000361308.8:c.526del	ENSP00000355292.5:p.Leu176Ter
ENST00000368297.5:c.283del	ENSP00000357280.1:p.Leu95Ter
ENST00000368299.7:c.526del	ENSP00000357282.3:p.Leu176Ter
ENST00000368300.8:c.526del	ENSP00000357283.4:p.Leu176Ter
ENST00000368301.6:c.526del	ENSP00000357284.2:p.Leu176Ter
ENST00000448611.6:c.190del	ENSP00000395597.2:p.Leu64Ter
ENST00000469565.6:n.560del
ENST00000470199.2:n.468del
ENST00000473598.6:c.229del	ENSP00000421821.1:p.Leu77Ter
ENST00000502357.5:n.424del
ENST00000502751.5:n.498del
ENST00000504687.5:c.277del	ENSP00000426535.1:p.Leu93Ter
ENST00000515459.5:c.*200del	ENSP00000424518.1:n.*200del
NM_001257374.2:c.190del	NP_001244303.1:p.Leu64Ter
NM_001282624.1:c.283del	NP_001269553.1:p.Leu95Ter
NM_001282625.1:c.526del	NP_001269554.1:p.Leu176Ter
NM_001282626.1:c.526del	NP_001269555.1:p.Leu176Ter
NM_005572.3:c.526del , LRG_254t1:c.526del	NP_005563.1:p.Leu176Ter
NM_170707.3:c.526del	NP_733821.1:p.Leu176Ter
NM_170708.3:c.526del	NP_733822.1:p.Leu176Ter
XM_011509533.1:c.190del	XP_011507835.1:p.Leu64Ter
XM_011509534.1:c.-139del	XP_011507836.1:n.-139del
XR_921781.1:n.775del
XM_011509534.2:c.-139del	XP_011507836.1:n.-139del
XR_921781.2:n.773del
NM_170707.4:c.526del MANE Select	NP_733821.1:p.Leu176Ter
NM_001257374.3:c.190del	NP_001244303.1:p.Leu64Ter
NM_001282626.2:c.526del	NP_001269555.1:p.Leu176Ter
NM_001282624.2:c.283del	NP_001269553.1:p.Leu95Ter
NM_001282625.2:c.526del	NP_001269554.1:p.Leu176Ter
NM_005572.4:c.526del MANE Plus Clinical	NP_005563.1:p.Leu176Ter
NM_170708.4:c.526del	NP_733822.1:p.Leu176Ter