Canonical Allele Identifier: CA645372477

Gene: LMNA

Linked Data

• ClinVar Variation Id: 435776
• ClinVar RCV Id: RCV000503550 ; RCV002527264
• dbSNP Id: rs1553265369
• MyVariant Identifiers: chr1:g.156104746_156104748del (hg19) ; chr1:g.156134955_156134957del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156134955_156134957del , CM000663.2:g.156134955_156134957del	GRCh38
NC_000001.10:g.156104746_156104748del , CM000663.1:g.156104746_156104748del	GRCh37
NC_000001.9:g.154371370_154371372del	NCBI36
NG_008692.2:g.57383_57385del , LRG_254:g.57383_57385del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504687.7:c.232_234del	ENSP00000426535.3:p.Glu78del
ENST00000682650.1:c.790_792del	ENSP00000506904.1:p.Glu264del
ENST00000683032.1:c.790_792del	ENSP00000506771.1:p.Glu264del
ENST00000684195.1:c.790_792del	ENSP00000508220.1:p.Glu264del
ENST00000361308.9:c.790_792del	ENSP00000355292.6:p.Glu264del
ENST00000368300.9:c.790_792del MANE Select	ENSP00000357283.4:p.Glu264del
ENST00000496738.6:n.1165_1167del
ENST00000504687.6:c.126_128del	ENSP00000426535.2:p.Trp42Ter
ENST00000674518.1:c.*140_*142del	ENSP00000502261.1:n.*140_*142del
ENST00000674600.1:c.*589_*591del	ENSP00000501666.1:n.*589_*591del
ENST00000674720.1:c.790_792del	ENSP00000502798.1:p.Glu264del
ENST00000675431.1:n.483_485del
ENST00000675455.1:c.*590_*592del	ENSP00000501795.1:n.*590_*592del
ENST00000675667.1:c.790_792del	ENSP00000501803.1:p.Glu264del
ENST00000675874.1:c.*261_*263del	ENSP00000501851.1:n.*261_*263del
ENST00000675881.1:c.790_792del	ENSP00000501670.1:p.Glu264del
ENST00000675939.1:c.790_792del	ENSP00000502256.1:p.Glu264del
ENST00000675989.1:n.1165_1167del
ENST00000676208.1:c.790_792del	ENSP00000502468.1:p.Glu264del
ENST00000676283.1:n.1165_1167del
ENST00000676385.2:c.790_792del	ENSP00000502091.1:p.Glu264del
ENST00000676434.1:c.790_792del	ENSP00000501648.1:p.Glu264del
ENST00000677389.1:c.790_792del MANE Plus Clinical	ENSP00000503633.1:p.Glu264del
ENST00000347559.6:c.790_792del	ENSP00000292304.3:p.Glu264del
ENST00000361308.8:c.790_792del	ENSP00000355292.5:p.Glu264del
ENST00000368297.5:c.547_549del	ENSP00000357280.1:p.Glu183del
ENST00000368299.7:c.790_792del	ENSP00000357282.3:p.Glu264del
ENST00000368300.8:c.790_792del	ENSP00000357283.4:p.Glu264del
ENST00000368301.6:c.790_792del	ENSP00000357284.2:p.Glu264del
ENST00000448611.6:c.454_456del	ENSP00000395597.2:p.Glu152del
ENST00000473598.6:c.493_495del	ENSP00000421821.1:p.Glu165del
ENST00000496738.5:n.135_137del
ENST00000504687.5:c.541_543del	ENSP00000426535.1:p.Glu181del
ENST00000515459.5:c.*464_*466del	ENSP00000424518.1:n.*464_*466del
ENST00000515824.1:n.151_153del
NM_001257374.2:c.454_456del	NP_001244303.1:p.Glu152del
NM_001282624.1:c.547_549del	NP_001269553.1:p.Glu183del
NM_001282625.1:c.790_792del	NP_001269554.1:p.Glu264del
NM_001282626.1:c.790_792del	NP_001269555.1:p.Glu264del
NM_005572.3:c.790_792del , LRG_254t1:c.790_792del	NP_005563.1:p.Glu264del
NM_170707.3:c.790_792del	NP_733821.1:p.Glu264del
NM_170708.3:c.790_792del	NP_733822.1:p.Glu264del
XM_011509533.1:c.454_456del	XP_011507835.1:p.Glu152del
XM_011509534.1:c.126_128del	XP_011507836.1:p.Trp42Ter
XR_921781.1:n.1039_1041del
XM_011509534.2:c.126_128del	XP_011507836.1:p.Trp42Ter
XR_921781.2:n.1037_1039del
NM_170707.4:c.790_792del MANE Select	NP_733821.1:p.Glu264del
NM_001257374.3:c.454_456del	NP_001244303.1:p.Glu152del
NM_001282626.2:c.790_792del	NP_001269555.1:p.Glu264del
NM_001282624.2:c.547_549del	NP_001269553.1:p.Glu183del
NM_001282625.2:c.790_792del	NP_001269554.1:p.Glu264del
NM_005572.4:c.790_792del MANE Plus Clinical	NP_005563.1:p.Glu264del
NM_170708.4:c.790_792del	NP_733822.1:p.Glu264del