Canonical Allele Identifier: CA2573130606

Gene: LMNA

Linked Data

• ClinVar Variation Id: 1381428
• ClinVar RCV Id: RCV001895356
• dbSNP Id: rs2102886483

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156135892_156135893delinsAG , CM000663.2:g.156135892_156135893delinsAG	GRCh38
NC_000001.10:g.156105683_156105684delinsAG , CM000663.1:g.156105683_156105684delinsAG	GRCh37
NC_000001.9:g.154372307_154372308delinsAG	NCBI36
NG_008692.2:g.58320_58321delinsAG , LRG_254:g.58320_58321delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504687.7:c.379-9_379-8delinsAG	ENSP00000426535.3:n.379-9_379-8delinsAG
ENST00000498722.3:n.160_161delinsAG
ENST00000682650.1:c.937-9_937-8delinsAG	ENSP00000506904.1:n.937-9_937-8delinsAG
ENST00000683032.1:c.937-9_937-8delinsAG	ENSP00000506771.1:n.937-9_937-8delinsAG
ENST00000684195.1:c.937-9_937-8delinsAG	ENSP00000508220.1:n.937-9_937-8delinsAG
ENST00000361308.9:c.937-9_937-8delinsAG	ENSP00000355292.6:n.937-9_937-8delinsAG
ENST00000368300.9:c.937-9_937-8delinsAG MANE Select	ENSP00000357283.4:n.937-9_937-8delinsAG
ENST00000496738.6:n.1312-9_1312-8delinsAG
ENST00000674518.1:c.*287-9_*287-8delinsAG	ENSP00000502261.1:n.*287-9_*287-8delinsAG
ENST00000674600.1:c.*736-9_*736-8delinsAG	ENSP00000501666.1:n.*736-9_*736-8delinsAG
ENST00000674720.1:c.937-9_937-8delinsAG	ENSP00000502798.1:n.937-9_937-8delinsAG
ENST00000675431.1:n.630-9_630-8delinsAG
ENST00000675455.1:c.*737-9_*737-8delinsAG	ENSP00000501795.1:n.*737-9_*737-8delinsAG
ENST00000675667.1:c.937-9_937-8delinsAG	ENSP00000501803.1:n.937-9_937-8delinsAG
ENST00000675874.1:c.*408-9_*408-8delinsAG	ENSP00000501851.1:n.*408-9_*408-8delinsAG
ENST00000675881.1:c.968_969delinsAG	ENSP00000501670.1:p.Pro323Gln
ENST00000675939.1:c.937-9_937-8delinsAG	ENSP00000502256.1:n.937-9_937-8delinsAG
ENST00000675989.1:n.1312-9_1312-8delinsAG
ENST00000676208.1:c.968_969delinsAG	ENSP00000502468.1:p.Pro323Gln
ENST00000676283.1:n.1312-9_1312-8delinsAG
ENST00000676385.2:c.937-9_937-8delinsAG	ENSP00000502091.1:n.937-9_937-8delinsAG
ENST00000676434.1:c.968_969delinsAG	ENSP00000501648.1:p.Pro323Gln
ENST00000677389.1:c.937-9_937-8delinsAG MANE Plus Clinical	ENSP00000503633.1:n.937-9_937-8delinsAG
ENST00000347559.6:c.937-9_937-8delinsAG	ENSP00000292304.3:n.937-9_937-8delinsAG
ENST00000361308.8:c.937-9_937-8delinsAG	ENSP00000355292.5:n.937-9_937-8delinsAG
ENST00000368297.5:c.694-9_694-8delinsAG	ENSP00000357280.1:n.694-9_694-8delinsAG
ENST00000368298.2:n.201-9_201-8delinsAG
ENST00000368299.7:c.937-9_937-8delinsAG	ENSP00000357282.3:n.937-9_937-8delinsAG
ENST00000368300.8:c.937-9_937-8delinsAG	ENSP00000357283.4:n.937-9_937-8delinsAG
ENST00000368301.6:c.937-9_937-8delinsAG	ENSP00000357284.2:n.937-9_937-8delinsAG
ENST00000448611.6:c.601-9_601-8delinsAG	ENSP00000395597.2:n.601-9_601-8delinsAG
ENST00000473598.6:c.640-9_640-8delinsAG	ENSP00000421821.1:n.640-9_640-8delinsAG
ENST00000496738.5:n.313_314delinsAG
ENST00000498722.2:n.160_161delinsAG
NM_001257374.2:c.601-9_601-8delinsAG	NP_001244303.1:n.601-9_601-8delinsAG
NM_001282624.1:c.694-9_694-8delinsAG	NP_001269553.1:n.694-9_694-8delinsAG
NM_001282625.1:c.937-9_937-8delinsAG	NP_001269554.1:n.937-9_937-8delinsAG
NM_001282626.1:c.937-9_937-8delinsAG	NP_001269555.1:n.937-9_937-8delinsAG
NM_005572.3:c.937-9_937-8delinsAG , LRG_254t1:c.937-9_937-8delinsAG	NP_005563.1:n.937-9_937-8delinsAG
NM_170707.3:c.937-9_937-8delinsAG	NP_733821.1:n.937-9_937-8delinsAG
NM_170708.3:c.937-9_937-8delinsAG	NP_733822.1:n.937-9_937-8delinsAG
XM_011509533.1:c.601-9_601-8delinsAG	XP_011507835.1:n.601-9_601-8delinsAG
XM_011509534.1:c.304_305delinsAG	XP_011507836.1:p.Pro102Ser
XR_921781.1:n.1217_1218delinsAG
XM_011509534.2:c.304_305delinsAG	XP_011507836.1:p.Pro102Ser
XR_921781.2:n.1215_1216delinsAG
NM_170707.4:c.937-9_937-8delinsAG MANE Select	NP_733821.1:n.937-9_937-8delinsAG
NM_001257374.3:c.601-9_601-8delinsAG	NP_001244303.1:n.601-9_601-8delinsAG
NM_001282626.2:c.937-9_937-8delinsAG	NP_001269555.1:n.937-9_937-8delinsAG
NM_001282624.2:c.694-9_694-8delinsAG	NP_001269553.1:n.694-9_694-8delinsAG
NM_001282625.2:c.937-9_937-8delinsAG	NP_001269554.1:n.937-9_937-8delinsAG
NM_005572.4:c.937-9_937-8delinsAG MANE Plus Clinical	NP_005563.1:n.937-9_937-8delinsAG
NM_170708.4:c.937-9_937-8delinsAG	NP_733822.1:n.937-9_937-8delinsAG