Canonical Allele Identifier: CA1200472463

Gene: LMNA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156136110_156136113delinsCGAG , CM000663.2:g.156136110_156136113delinsCGAG	GRCh38
NC_000001.10:g.156105901_156105904delinsCGAG , CM000663.1:g.156105901_156105904delinsCGAG	GRCh37
NC_000001.9:g.154372525_154372528delinsCGAG	NCBI36
NG_008692.2:g.58538_58541delinsCGAG , LRG_254:g.58538_58541delinsCGAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000504687.7:c.588_591delinsCGAG	ENSP00000426535.3:p.Gly196=
ENST00000498722.3:n.378_381delinsCGAG
ENST00000682650.1:c.1146_1149delinsCGAG	ENSP00000506904.1:p.Gly382=
ENST00000683032.1:c.1146_1149delinsCGAG	ENSP00000506771.1:p.Gly382=
ENST00000684195.1:c.1146_1149delinsCGAG	ENSP00000508220.1:p.Gly382=
ENST00000361308.9:c.1146_1149delinsCGAG	ENSP00000355292.6:p.Gly382=
ENST00000368300.9:c.1146_1149delinsCGAG MANE Select	ENSP00000357283.4:p.Gly382=
ENST00000496738.6:n.1521_1524delinsCGAG
ENST00000674518.1:c.*496_*499delinsCGAG	ENSP00000502261.1:n.*496_*499delinsCGAG
ENST00000674600.1:c.*945_*948delinsCGAG	ENSP00000501666.1:n.*945_*948delinsCGAG
ENST00000674720.1:c.1146_1149delinsCGAG	ENSP00000502798.1:p.Gly382=
ENST00000675431.1:n.839_842delinsCGAG
ENST00000675455.1:c.*946_*949delinsCGAG	ENSP00000501795.1:n.*946_*949delinsCGAG
ENST00000675667.1:c.1146_1149delinsCGAG	ENSP00000501803.1:p.Gly382=
ENST00000675874.1:c.*617_*620delinsCGAG	ENSP00000501851.1:n.*617_*620delinsCGAG
ENST00000675881.1:c.*157_*160delinsCGAG	ENSP00000501670.1:n.*157_*160delinsCGAG
ENST00000675939.1:c.1146_1149delinsCGAG	ENSP00000502256.1:p.Gly382=
ENST00000675989.1:n.1521_1524delinsCGAG
ENST00000676208.1:c.*157_*160delinsCGAG	ENSP00000502468.1:n.*157_*160delinsCGAG
ENST00000676283.1:n.1521_1524delinsCGAG
ENST00000676385.2:c.1146_1149delinsCGAG	ENSP00000502091.1:p.Gly382=
ENST00000676434.1:c.*157_*160delinsCGAG	ENSP00000501648.1:n.*157_*160delinsCGAG
ENST00000677389.1:c.1146_1149delinsCGAG MANE Plus Clinical	ENSP00000503633.1:p.Gly382=
ENST00000347559.6:c.1146_1149delinsCGAG	ENSP00000292304.3:p.Gly382=
ENST00000361308.8:c.1146_1149delinsCGAG	ENSP00000355292.5:p.Gly382=
ENST00000368297.5:c.903_906delinsCGAG	ENSP00000357280.1:p.Gly301=
ENST00000368298.2:n.410_413delinsCGAG
ENST00000368299.7:c.1146_1149delinsCGAG	ENSP00000357282.3:p.Gly382=
ENST00000368300.8:c.1146_1149delinsCGAG	ENSP00000357283.4:p.Gly382=
ENST00000368301.6:c.1146_1149delinsCGAG	ENSP00000357284.2:p.Gly382=
ENST00000448611.6:c.810_813delinsCGAG	ENSP00000395597.2:p.Gly270=
ENST00000473598.6:c.849_852delinsCGAG	ENSP00000421821.1:p.Gly283=
ENST00000496738.5:n.531_534delinsCGAG
ENST00000498722.2:n.378_381delinsCGAG
ENST00000508500.1:c.24_27delinsCGAG	ENSP00000424977.1:p.Gly8=
NM_001257374.2:c.810_813delinsCGAG	NP_001244303.1:p.Gly270=
NM_001282624.1:c.903_906delinsCGAG	NP_001269553.1:p.Gly301=
NM_001282625.1:c.1146_1149delinsCGAG	NP_001269554.1:p.Gly382=
NM_001282626.1:c.1146_1149delinsCGAG	NP_001269555.1:p.Gly382=
NM_005572.3:c.1146_1149delinsCGAG , LRG_254t1:c.1146_1149delinsCGAG	NP_005563.1:p.Gly382=
NM_170707.3:c.1146_1149delinsCGAG	NP_733821.1:p.Gly382=
NM_170708.3:c.1146_1149delinsCGAG	NP_733822.1:p.Gly382=
XM_011509533.1:c.810_813delinsCGAG	XP_011507835.1:p.Gly270=
XM_011509534.1:c.522_525delinsCGAG	XP_011507836.1:p.Gly174=
XR_921781.1:n.1435_1438delinsCGAG
XM_011509534.2:c.522_525delinsCGAG	XP_011507836.1:p.Gly174=
XR_921781.2:n.1433_1436delinsCGAG
NM_170707.4:c.1146_1149delinsCGAG MANE Select	NP_733821.1:p.Gly382=
NM_001257374.3:c.810_813delinsCGAG	NP_001244303.1:p.Gly270=
NM_001282626.2:c.1146_1149delinsCGAG	NP_001269555.1:p.Gly382=
NM_001282624.2:c.903_906delinsCGAG	NP_001269553.1:p.Gly301=
NM_001282625.2:c.1146_1149delinsCGAG	NP_001269554.1:p.Gly382=
NM_005572.4:c.1146_1149delinsCGAG MANE Plus Clinical	NP_005563.1:p.Gly382=
NM_170708.4:c.1146_1149delinsCGAG	NP_733822.1:p.Gly382=