Canonical Allele Identifier: CA1200472442

Gene: LMNA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156136073_156136088delinsACATGGAGATCCACGC , CM000663.2:g.156136073_156136088delinsACATGGAGATCCACGC	GRCh38
NC_000001.10:g.156105864_156105879delinsACATGGAGATCCACGC , CM000663.1:g.156105864_156105879delinsACATGGAGATCCACGC	GRCh37
NC_000001.9:g.154372488_154372503delinsACATGGAGATCCACGC	NCBI36
NG_008692.2:g.58501_58516delinsACATGGAGATCCACGC , LRG_254:g.58501_58516delinsACATGGAGATCCACGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504687.7:c.551_566delinsACATGGAGATCCACGC	ENSP00000426535.3:p.Asp184=
ENST00000498722.3:n.341_356delinsACATGGAGATCCACGC
ENST00000682650.1:c.1109_1124delinsACATGGAGATCCACGC	ENSP00000506904.1:p.Asp370=
ENST00000683032.1:c.1109_1124delinsACATGGAGATCCACGC	ENSP00000506771.1:p.Asp370=
ENST00000684195.1:c.1109_1124delinsACATGGAGATCCACGC	ENSP00000508220.1:p.Asp370=
ENST00000361308.9:c.1109_1124delinsACATGGAGATCCACGC	ENSP00000355292.6:p.Asp370=
ENST00000368300.9:c.1109_1124delinsACATGGAGATCCACGC MANE Select	ENSP00000357283.4:p.Asp370=
ENST00000496738.6:n.1484_1499delinsACATGGAGATCCACGC
ENST00000674518.1:c.*459_*474delinsACATGGAGATCCACGC	ENSP00000502261.1:n.*459_*474delinsACATGGAGATCCACGC
ENST00000674600.1:c.*908_*923delinsACATGGAGATCCACGC	ENSP00000501666.1:n.*908_*923delinsACATGGAGATCCACGC
ENST00000674720.1:c.1109_1124delinsACATGGAGATCCACGC	ENSP00000502798.1:p.Asp370=
ENST00000675431.1:n.802_817delinsACATGGAGATCCACGC
ENST00000675455.1:c.*909_*924delinsACATGGAGATCCACGC	ENSP00000501795.1:n.*909_*924delinsACATGGAGATCCACGC
ENST00000675667.1:c.1109_1124delinsACATGGAGATCCACGC	ENSP00000501803.1:p.Asp370=
ENST00000675874.1:c.*580_*595delinsACATGGAGATCCACGC	ENSP00000501851.1:n.*580_*595delinsACATGGAGATCCACGC
ENST00000675881.1:c.*120_*135delinsACATGGAGATCCACGC	ENSP00000501670.1:n.*120_*135delinsACATGGAGATCCACGC
ENST00000675939.1:c.1109_1124delinsACATGGAGATCCACGC	ENSP00000502256.1:p.Asp370=
ENST00000675989.1:n.1484_1499delinsACATGGAGATCCACGC
ENST00000676208.1:c.*120_*135delinsACATGGAGATCCACGC	ENSP00000502468.1:n.*120_*135delinsACATGGAGATCCACGC
ENST00000676283.1:n.1484_1499delinsACATGGAGATCCACGC
ENST00000676385.2:c.1109_1124delinsACATGGAGATCCACGC	ENSP00000502091.1:p.Asp370=
ENST00000676434.1:c.*120_*135delinsACATGGAGATCCACGC	ENSP00000501648.1:n.*120_*135delinsACATGGAGATCCACGC
ENST00000677389.1:c.1109_1124delinsACATGGAGATCCACGC MANE Plus Clinical	ENSP00000503633.1:p.Asp370=
ENST00000347559.6:c.1109_1124delinsACATGGAGATCCACGC	ENSP00000292304.3:p.Asp370=
ENST00000361308.8:c.1109_1124delinsACATGGAGATCCACGC	ENSP00000355292.5:p.Asp370=
ENST00000368297.5:c.866_881delinsACATGGAGATCCACGC	ENSP00000357280.1:p.Asp289=
ENST00000368298.2:n.373_388delinsACATGGAGATCCACGC
ENST00000368299.7:c.1109_1124delinsACATGGAGATCCACGC	ENSP00000357282.3:p.Asp370=
ENST00000368300.8:c.1109_1124delinsACATGGAGATCCACGC	ENSP00000357283.4:p.Asp370=
ENST00000368301.6:c.1109_1124delinsACATGGAGATCCACGC	ENSP00000357284.2:p.Asp370=
ENST00000448611.6:c.773_788delinsACATGGAGATCCACGC	ENSP00000395597.2:p.Asp258=
ENST00000473598.6:c.812_827delinsACATGGAGATCCACGC	ENSP00000421821.1:p.Asp271=
ENST00000496738.5:n.494_509delinsACATGGAGATCCACGC
ENST00000498722.2:n.341_356delinsACATGGAGATCCACGC
NM_001257374.2:c.773_788delinsACATGGAGATCCACGC	NP_001244303.1:p.Asp258=
NM_001282624.1:c.866_881delinsACATGGAGATCCACGC	NP_001269553.1:p.Asp289=
NM_001282625.1:c.1109_1124delinsACATGGAGATCCACGC	NP_001269554.1:p.Asp370=
NM_001282626.1:c.1109_1124delinsACATGGAGATCCACGC	NP_001269555.1:p.Asp370=
NM_005572.3:c.1109_1124delinsACATGGAGATCCACGC , LRG_254t1:c.1109_1124delinsACATGGAGATCCACGC	NP_005563.1:p.Asp370=
NM_170707.3:c.1109_1124delinsACATGGAGATCCACGC	NP_733821.1:p.Asp370=
NM_170708.3:c.1109_1124delinsACATGGAGATCCACGC	NP_733822.1:p.Asp370=
XM_011509533.1:c.773_788delinsACATGGAGATCCACGC	XP_011507835.1:p.Asp258=
XM_011509534.1:c.485_500delinsACATGGAGATCCACGC	XP_011507836.1:p.Asp162=
XR_921781.1:n.1398_1413delinsACATGGAGATCCACGC
XM_011509534.2:c.485_500delinsACATGGAGATCCACGC	XP_011507836.1:p.Asp162=
XR_921781.2:n.1396_1411delinsACATGGAGATCCACGC
NM_170707.4:c.1109_1124delinsACATGGAGATCCACGC MANE Select	NP_733821.1:p.Asp370=
NM_001257374.3:c.773_788delinsACATGGAGATCCACGC	NP_001244303.1:p.Asp258=
NM_001282626.2:c.1109_1124delinsACATGGAGATCCACGC	NP_001269555.1:p.Asp370=
NM_001282624.2:c.866_881delinsACATGGAGATCCACGC	NP_001269553.1:p.Asp289=
NM_001282625.2:c.1109_1124delinsACATGGAGATCCACGC	NP_001269554.1:p.Asp370=
NM_005572.4:c.1109_1124delinsACATGGAGATCCACGC MANE Plus Clinical	NP_005563.1:p.Asp370=
NM_170708.4:c.1109_1124delinsACATGGAGATCCACGC	NP_733822.1:p.Asp370=