Canonical Allele Identifier: CA018586

Gene: LMNA

Linked Data

• ClinVar Variation Id: 48079
• ClinVar RCV Id: RCV000041364 ; RCV003581569
• dbSNP Id: rs397517908
• gnomAD v4: 1-156134926-AC-A
• MyVariant Identifiers: chr1:g.156104719del (hg19) ; chr1:g.156134928del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156134928del , CM000663.2:g.156134928del	GRCh38
NC_000001.10:g.156104719del , CM000663.1:g.156104719del	GRCh37
NC_000001.9:g.154371343del	NCBI36
NG_008692.2:g.57356del , LRG_254:g.57356del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504687.7:c.205del	ENSP00000426535.3:p.Gln69ArgfsTer?
ENST00000682650.1:c.763del	ENSP00000506904.1:p.Gln255ArgfsTer?
ENST00000683032.1:c.763del	ENSP00000506771.1:p.Gln255ArgfsTer?
ENST00000684195.1:c.763del	ENSP00000508220.1:p.Gln255ArgfsTer?
ENST00000361308.9:c.763del	ENSP00000355292.6:p.Gln255ArgfsTer?
ENST00000368300.9:c.763del MANE Select	ENSP00000357283.4:p.Gln255ArgfsTer?
ENST00000496738.6:n.1138del
ENST00000504687.6:c.99del	ENSP00000426535.2:p.Arg34GlyfsTer5
ENST00000674518.1:c.*113del	ENSP00000502261.1:n.*113del
ENST00000674600.1:c.*562del	ENSP00000501666.1:n.*562del
ENST00000674720.1:c.763del	ENSP00000502798.1:p.Gln255ArgfsTer?
ENST00000675431.1:n.456del
ENST00000675455.1:c.*563del	ENSP00000501795.1:n.*563del
ENST00000675667.1:c.763del	ENSP00000501803.1:p.Gln255ArgfsTer?
ENST00000675874.1:c.*234del	ENSP00000501851.1:n.*234del
ENST00000675881.1:c.763del	ENSP00000501670.1:p.Gln255ArgfsTer?
ENST00000675939.1:c.763del	ENSP00000502256.1:p.Gln255ArgfsTer?
ENST00000675989.1:n.1138del
ENST00000676208.1:c.763del	ENSP00000502468.1:p.Gln255ArgfsTer?
ENST00000676283.1:n.1138del
ENST00000676385.2:c.763del	ENSP00000502091.1:p.Gln255ArgfsTer?
ENST00000676434.1:c.763del	ENSP00000501648.1:p.Gln255ArgfsTer?
ENST00000677389.1:c.763del MANE Plus Clinical	ENSP00000503633.1:p.Gln255ArgfsTer?
ENST00000347559.6:c.763del	ENSP00000292304.3:p.Gln255ArgfsTer?
ENST00000361308.8:c.763del	ENSP00000355292.5:p.Gln255ArgfsTer?
ENST00000368297.5:c.520del	ENSP00000357280.1:p.Gln174ArgfsTer?
ENST00000368299.7:c.763del	ENSP00000357282.3:p.Gln255ArgfsTer?
ENST00000368300.8:c.763del	ENSP00000357283.4:p.Gln255ArgfsTer?
ENST00000368301.6:c.763del	ENSP00000357284.2:p.Gln255ArgfsTer?
ENST00000448611.6:c.427del	ENSP00000395597.2:p.Gln143ArgfsTer?
ENST00000473598.6:c.466del	ENSP00000421821.1:p.Gln156ArgfsTer?
ENST00000496738.5:n.108del
ENST00000504687.5:c.514del	ENSP00000426535.1:p.Gln172ArgfsTer?
ENST00000515459.5:c.*437del	ENSP00000424518.1:n.*437del
ENST00000515824.1:n.124del
NM_001257374.2:c.427del	NP_001244303.1:p.Gln143ArgfsTer?
NM_001282624.1:c.520del	NP_001269553.1:p.Gln174ArgfsTer?
NM_001282625.1:c.763del	NP_001269554.1:p.Gln255ArgfsTer?
NM_001282626.1:c.763del	NP_001269555.1:p.Gln255ArgfsTer?
NM_005572.3:c.763del , LRG_254t1:c.763del	NP_005563.1:p.Gln255ArgfsTer?
NM_170707.3:c.763del	NP_733821.1:p.Gln255ArgfsTer?
NM_170708.3:c.763del	NP_733822.1:p.Gln255ArgfsTer?
XM_011509533.1:c.427del	XP_011507835.1:p.Gln143ArgfsTer?
XM_011509534.1:c.99del	XP_011507836.1:p.Arg34GlyfsTer5
XR_921781.1:n.1012del
XM_011509534.2:c.99del	XP_011507836.1:p.Arg34GlyfsTer5
XR_921781.2:n.1010del
NM_170707.4:c.763del MANE Select	NP_733821.1:p.Gln255ArgfsTer?
NM_001257374.3:c.427del	NP_001244303.1:p.Gln143ArgfsTer?
NM_001282626.2:c.763del	NP_001269555.1:p.Gln255ArgfsTer?
NM_001282624.2:c.520del	NP_001269553.1:p.Gln174ArgfsTer?
NM_001282625.2:c.763del	NP_001269554.1:p.Gln255ArgfsTer?
NM_005572.4:c.763del MANE Plus Clinical	NP_005563.1:p.Gln255ArgfsTer?
NM_170708.4:c.763del	NP_733822.1:p.Gln255ArgfsTer?