Canonical Allele Identifier: CA2173686186

Gene: SPG11

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44584285_44584294delinsTCTCCAGCTC , CM000677.2:g.44584285_44584294delinsTCTCCAGCTC	GRCh38
NC_000015.9:g.44876483_44876492delinsTCTCCAGCTC , CM000677.1:g.44876483_44876492delinsTCTCCAGCTC	GRCh37
NC_000015.8:g.42663775_42663784delinsTCTCCAGCTC	NCBI36
NG_008885.1:g.84385_84394delinsGAGCTGGAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5386_5395delinsGAGCTGGAGA	ENSP00000453246.2:p.Glu1796=
ENST00000561391.2:n.1614_1623delinsGAGCTGGAGA
ENST00000682065.1:c.5242_5251delinsGAGCTGGAGA	ENSP00000507025.1:p.Glu1748=
ENST00000682460.1:c.*1643_*1652delinsGAGCTGGAGA	ENSP00000508334.1:n.*1643_*1652delinsGAGCTGGAGA
ENST00000682495.1:c.*1878_*1887delinsGAGCTGGAGA	ENSP00000507166.1:n.*1878_*1887delinsGAGCTGGAGA
ENST00000682669.1:c.5185_5194delinsGAGCTGGAGA	ENSP00000507782.1:p.Glu1729=
ENST00000683186.1:c.*2149_*2158delinsGAGCTGGAGA	ENSP00000507268.1:n.*2149_*2158delinsGAGCTGGAGA
ENST00000683496.1:c.5386_5395delinsGAGCTGGAGA	ENSP00000506968.1:p.Glu1796=
ENST00000683734.1:c.5386_5395delinsGAGCTGGAGA	ENSP00000508319.1:p.Glu1796=
ENST00000683753.1:n.4432_4441delinsGAGCTGGAGA
ENST00000684038.1:c.*1806_*1815delinsGAGCTGGAGA	ENSP00000507141.1:n.*1806_*1815delinsGAGCTGGAGA
ENST00000684235.1:c.5386_5395delinsGAGCTGGAGA	ENSP00000508295.1:p.Glu1796=
ENST00000684676.1:c.5386_5395delinsGAGCTGGAGA	ENSP00000506948.1:p.Glu1796=
ENST00000261866.12:c.5386_5395delinsGAGCTGGAGA MANE Select	ENSP00000261866.7:p.Glu1796=
ENST00000261866.11:c.5386_5395delinsGAGCTGGAGA	ENSP00000261866.7:p.Glu1796=
ENST00000427534.6:c.5386_5395delinsGAGCTGGAGA	ENSP00000396110.2:p.Glu1796=
ENST00000535302.6:c.5386_5395delinsGAGCTGGAGA	ENSP00000445278.2:p.Glu1796=
ENST00000558319.5:c.5386_5395delinsGAGCTGGAGA	ENSP00000453599.1:p.Glu1796=
ENST00000558790.5:n.823_832delinsGAGCTGGAGA
ENST00000559511.5:c.234_243delinsGAGCTGGAGA
ENST00000559822.1:c.158_167delinsGAGCTGGAGA
NM_001160227.1:c.5386_5395delinsGAGCTGGAGA	NP_001153699.1:p.Glu1796=
NM_025137.3:c.5386_5395delinsGAGCTGGAGA	NP_079413.3:p.Glu1796=
XM_005254695.3:c.5128_5137delinsGAGCTGGAGA	XP_005254752.1:p.Glu1710=
XM_006720700.1:c.5242_5251delinsGAGCTGGAGA	XP_006720763.1:p.Glu1748=
XM_017022634.1:c.5386_5395delinsGAGCTGGAGA	XP_016878123.1:p.Glu1796=
XM_017022636.1:c.2263_2272delinsGAGCTGGAGA	XP_016878125.1:p.Glu755=
XR_931917.2:n.5440_5449delinsGAGCTGGAGA
NM_025137.4:c.5386_5395delinsGAGCTGGAGA MANE Select	NP_079413.3:p.Glu1796=
NM_001160227.2:c.5386_5395delinsGAGCTGGAGA	NP_001153699.1:p.Glu1796=