Canonical Allele Identifier: CA1144229006

Gene: LMNA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156136074_156136089delinsCATGGAGATCCACGCC , CM000663.2:g.156136074_156136089delinsCATGGAGATCCACGCC	GRCh38
NC_000001.10:g.156105865_156105880delinsCATGGAGATCCACGCC , CM000663.1:g.156105865_156105880delinsCATGGAGATCCACGCC	GRCh37
NC_000001.9:g.154372489_154372504delinsCATGGAGATCCACGCC	NCBI36
NG_008692.2:g.58502_58517delinsCATGGAGATCCACGCC , LRG_254:g.58502_58517delinsCATGGAGATCCACGCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000504687.7:c.552_567delinsCATGGAGATCCACGCC	ENSP00000426535.3:p.Asp184=
ENST00000498722.3:n.342_357delinsCATGGAGATCCACGCC
ENST00000682650.1:c.1110_1125delinsCATGGAGATCCACGCC	ENSP00000506904.1:p.Asp370=
ENST00000683032.1:c.1110_1125delinsCATGGAGATCCACGCC	ENSP00000506771.1:p.Asp370=
ENST00000684195.1:c.1110_1125delinsCATGGAGATCCACGCC	ENSP00000508220.1:p.Asp370=
ENST00000361308.9:c.1110_1125delinsCATGGAGATCCACGCC	ENSP00000355292.6:p.Asp370=
ENST00000368300.9:c.1110_1125delinsCATGGAGATCCACGCC MANE Select	ENSP00000357283.4:p.Asp370=
ENST00000496738.6:n.1485_1500delinsCATGGAGATCCACGCC
ENST00000674518.1:c.*460_*475delinsCATGGAGATCCACGCC	ENSP00000502261.1:n.*460_*475delinsCATGGAGATCCACGCC
ENST00000674600.1:c.*909_*924delinsCATGGAGATCCACGCC	ENSP00000501666.1:n.*909_*924delinsCATGGAGATCCACGCC
ENST00000674720.1:c.1110_1125delinsCATGGAGATCCACGCC	ENSP00000502798.1:p.Asp370=
ENST00000675431.1:n.803_818delinsCATGGAGATCCACGCC
ENST00000675455.1:c.*910_*925delinsCATGGAGATCCACGCC	ENSP00000501795.1:n.*910_*925delinsCATGGAGATCCACGCC
ENST00000675667.1:c.1110_1125delinsCATGGAGATCCACGCC	ENSP00000501803.1:p.Asp370=
ENST00000675874.1:c.*581_*596delinsCATGGAGATCCACGCC	ENSP00000501851.1:n.*581_*596delinsCATGGAGATCCACGCC
ENST00000675881.1:c.*121_*136delinsCATGGAGATCCACGCC	ENSP00000501670.1:n.*121_*136delinsCATGGAGATCCACGCC
ENST00000675939.1:c.1110_1125delinsCATGGAGATCCACGCC	ENSP00000502256.1:p.Asp370=
ENST00000675989.1:n.1485_1500delinsCATGGAGATCCACGCC
ENST00000676208.1:c.*121_*136delinsCATGGAGATCCACGCC	ENSP00000502468.1:n.*121_*136delinsCATGGAGATCCACGCC
ENST00000676283.1:n.1485_1500delinsCATGGAGATCCACGCC
ENST00000676385.2:c.1110_1125delinsCATGGAGATCCACGCC	ENSP00000502091.1:p.Asp370=
ENST00000676434.1:c.*121_*136delinsCATGGAGATCCACGCC	ENSP00000501648.1:n.*121_*136delinsCATGGAGATCCACGCC
ENST00000677389.1:c.1110_1125delinsCATGGAGATCCACGCC MANE Plus Clinical	ENSP00000503633.1:p.Asp370=
ENST00000347559.6:c.1110_1125delinsCATGGAGATCCACGCC	ENSP00000292304.3:p.Asp370=
ENST00000361308.8:c.1110_1125delinsCATGGAGATCCACGCC	ENSP00000355292.5:p.Asp370=
ENST00000368297.5:c.867_882delinsCATGGAGATCCACGCC	ENSP00000357280.1:p.Asp289=
ENST00000368298.2:n.374_389delinsCATGGAGATCCACGCC
ENST00000368299.7:c.1110_1125delinsCATGGAGATCCACGCC	ENSP00000357282.3:p.Asp370=
ENST00000368300.8:c.1110_1125delinsCATGGAGATCCACGCC	ENSP00000357283.4:p.Asp370=
ENST00000368301.6:c.1110_1125delinsCATGGAGATCCACGCC	ENSP00000357284.2:p.Asp370=
ENST00000448611.6:c.774_789delinsCATGGAGATCCACGCC	ENSP00000395597.2:p.Asp258=
ENST00000473598.6:c.813_828delinsCATGGAGATCCACGCC	ENSP00000421821.1:p.Asp271=
ENST00000496738.5:n.495_510delinsCATGGAGATCCACGCC
ENST00000498722.2:n.342_357delinsCATGGAGATCCACGCC
NM_001257374.2:c.774_789delinsCATGGAGATCCACGCC	NP_001244303.1:p.Asp258=
NM_001282624.1:c.867_882delinsCATGGAGATCCACGCC	NP_001269553.1:p.Asp289=
NM_001282625.1:c.1110_1125delinsCATGGAGATCCACGCC	NP_001269554.1:p.Asp370=
NM_001282626.1:c.1110_1125delinsCATGGAGATCCACGCC	NP_001269555.1:p.Asp370=
NM_005572.3:c.1110_1125delinsCATGGAGATCCACGCC , LRG_254t1:c.1110_1125delinsCATGGAGATCCACGCC	NP_005563.1:p.Asp370=
NM_170707.3:c.1110_1125delinsCATGGAGATCCACGCC	NP_733821.1:p.Asp370=
NM_170708.3:c.1110_1125delinsCATGGAGATCCACGCC	NP_733822.1:p.Asp370=
XM_011509533.1:c.774_789delinsCATGGAGATCCACGCC	XP_011507835.1:p.Asp258=
XM_011509534.1:c.486_501delinsCATGGAGATCCACGCC	XP_011507836.1:p.Asp162=
XR_921781.1:n.1399_1414delinsCATGGAGATCCACGCC
XM_011509534.2:c.486_501delinsCATGGAGATCCACGCC	XP_011507836.1:p.Asp162=
XR_921781.2:n.1397_1412delinsCATGGAGATCCACGCC
NM_170707.4:c.1110_1125delinsCATGGAGATCCACGCC MANE Select	NP_733821.1:p.Asp370=
NM_001257374.3:c.774_789delinsCATGGAGATCCACGCC	NP_001244303.1:p.Asp258=
NM_001282626.2:c.1110_1125delinsCATGGAGATCCACGCC	NP_001269555.1:p.Asp370=
NM_001282624.2:c.867_882delinsCATGGAGATCCACGCC	NP_001269553.1:p.Asp289=
NM_001282625.2:c.1110_1125delinsCATGGAGATCCACGCC	NP_001269554.1:p.Asp370=
NM_005572.4:c.1110_1125delinsCATGGAGATCCACGCC MANE Plus Clinical	NP_005563.1:p.Asp370=
NM_170708.4:c.1110_1125delinsCATGGAGATCCACGCC	NP_733822.1:p.Asp370=