Canonical Allele Identifier: CA16609887

Gene: LMNA

Linked Data

• ClinVar Variation Id: 408987
• ClinVar RCV Id: RCV000460325
• dbSNP Id: rs1060502210
• MyVariant Identifiers: chr1:g.156104286_156104288del (hg19) ; chr1:g.156134495_156134497del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156134495_156134497del , CM000663.2:g.156134495_156134497del	GRCh38
NC_000001.10:g.156104286_156104288del , CM000663.1:g.156104286_156104288del	GRCh37
NC_000001.9:g.154370910_154370912del	NCBI36
NG_008692.2:g.56923_56925del , LRG_254:g.56923_56925del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504687.7:c.48_50del	ENSP00000426535.3:p.Glu17del
ENST00000682650.1:c.606_608del	ENSP00000506904.1:p.Glu203del
ENST00000683032.1:c.606_608del	ENSP00000506771.1:p.Glu203del
ENST00000684195.1:c.606_608del	ENSP00000508220.1:p.Glu203del
ENST00000361308.9:c.606_608del	ENSP00000355292.6:p.Glu203del
ENST00000368300.9:c.606_608del MANE Select	ENSP00000357283.4:p.Glu203del
ENST00000496738.6:n.981_983del
ENST00000504687.6:c.-59_-57del	ENSP00000426535.2:n.-59_-57del
ENST00000674518.1:c.606_608del	ENSP00000502261.1:p.Glu203del
ENST00000674600.1:c.*405_*407del	ENSP00000501666.1:n.*405_*407del
ENST00000674720.1:c.606_608del	ENSP00000502798.1:p.Glu203del
ENST00000675431.1:n.299_301del
ENST00000675455.1:c.*406_*408del	ENSP00000501795.1:n.*406_*408del
ENST00000675667.1:c.606_608del	ENSP00000501803.1:p.Glu203del
ENST00000675874.1:c.*77_*79del	ENSP00000501851.1:n.*77_*79del
ENST00000675881.1:c.606_608del	ENSP00000501670.1:p.Glu203del
ENST00000675939.1:c.606_608del	ENSP00000502256.1:p.Glu203del
ENST00000675989.1:n.981_983del
ENST00000676208.1:c.606_608del	ENSP00000502468.1:p.Glu203del
ENST00000676283.1:n.981_983del
ENST00000676385.2:c.606_608del	ENSP00000502091.1:p.Glu203del
ENST00000676434.1:c.606_608del	ENSP00000501648.1:p.Glu203del
ENST00000677389.1:c.606_608del MANE Plus Clinical	ENSP00000503633.1:p.Glu203del
ENST00000347559.6:c.606_608del	ENSP00000292304.3:p.Glu203del
ENST00000361308.8:c.606_608del	ENSP00000355292.5:p.Glu203del
ENST00000368297.5:c.363_365del	ENSP00000357280.1:p.Glu122del
ENST00000368299.7:c.606_608del	ENSP00000357282.3:p.Glu203del
ENST00000368300.8:c.606_608del	ENSP00000357283.4:p.Glu203del
ENST00000368301.6:c.606_608del	ENSP00000357284.2:p.Glu203del
ENST00000448611.6:c.270_272del	ENSP00000395597.2:p.Glu91del
ENST00000470199.2:n.548_550del
ENST00000473598.6:c.309_311del	ENSP00000421821.1:p.Glu104del
ENST00000502357.5:n.504_506del
ENST00000504687.5:c.357_359del	ENSP00000426535.1:p.Glu120del
ENST00000515459.5:c.*280_*282del	ENSP00000424518.1:n.*280_*282del
NM_001257374.2:c.270_272del	NP_001244303.1:p.Glu91del
NM_001282624.1:c.363_365del	NP_001269553.1:p.Glu122del
NM_001282625.1:c.606_608del	NP_001269554.1:p.Glu203del
NM_001282626.1:c.606_608del	NP_001269555.1:p.Glu203del
NM_005572.3:c.606_608del , LRG_254t1:c.606_608del	NP_005563.1:p.Glu203del
NM_170707.3:c.606_608del	NP_733821.1:p.Glu203del
NM_170708.3:c.606_608del	NP_733822.1:p.Glu203del
XM_011509533.1:c.270_272del	XP_011507835.1:p.Glu91del
XM_011509534.1:c.-59_-57del	XP_011507836.1:n.-59_-57del
XR_921781.1:n.855_857del
XM_011509534.2:c.-59_-57del	XP_011507836.1:n.-59_-57del
XR_921781.2:n.853_855del
NM_170707.4:c.606_608del MANE Select	NP_733821.1:p.Glu203del
NM_001257374.3:c.270_272del	NP_001244303.1:p.Glu91del
NM_001282626.2:c.606_608del	NP_001269555.1:p.Glu203del
NM_001282624.2:c.363_365del	NP_001269553.1:p.Glu122del
NM_001282625.2:c.606_608del	NP_001269554.1:p.Glu203del
NM_005572.4:c.606_608del MANE Plus Clinical	NP_005563.1:p.Glu203del
NM_170708.4:c.606_608del	NP_733822.1:p.Glu203del