Canonical Allele Identifier: CA2173717560

Gene: SPG11

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44660445_44660466delinsGTCAATGAGCTTTTGCAATGCC , CM000677.2:g.44660445_44660466delinsGTCAATGAGCTTTTGCAATGCC	GRCh38
NC_000015.9:g.44952643_44952664delinsGTCAATGAGCTTTTGCAATGCC , CM000677.1:g.44952643_44952664delinsGTCAATGAGCTTTTGCAATGCC	GRCh37
NC_000015.8:g.42739935_42739956delinsGTCAATGAGCTTTTGCAATGCC	NCBI36
NG_008885.1:g.8213_8234delinsGGCATTGCAAAAGCTCATTGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.408_429delinsGGCATTGCAAAAGCTCATTGAC	ENSP00000453246.2:p.Glu136=
ENST00000682065.1:c.408_429delinsGGCATTGCAAAAGCTCATTGAC	ENSP00000507025.1:p.Glu136=
ENST00000682410.1:n.437_458delinsGGCATTGCAAAAGCTCATTGAC
ENST00000682460.1:c.408_429delinsGGCATTGCAAAAGCTCATTGAC	ENSP00000508334.1:p.Glu136=
ENST00000682495.1:c.408_429delinsGGCATTGCAAAAGCTCATTGAC	ENSP00000507166.1:p.Glu136=
ENST00000682648.1:n.353_374delinsGGCATTGCAAAAGCTCATTGAC
ENST00000682669.1:c.408_429delinsGGCATTGCAAAAGCTCATTGAC	ENSP00000507782.1:p.Glu136=
ENST00000682788.1:c.408_429delinsGGCATTGCAAAAGCTCATTGAC	ENSP00000508089.1:p.Glu136=
ENST00000682877.1:n.439_460delinsGGCATTGCAAAAGCTCATTGAC
ENST00000682915.1:c.408_429delinsGGCATTGCAAAAGCTCATTGAC	ENSP00000507493.1:p.Glu136=
ENST00000683121.1:c.408_429delinsGGCATTGCAAAAGCTCATTGAC	ENSP00000507557.1:p.Glu136=
ENST00000683186.1:c.408_429delinsGGCATTGCAAAAGCTCATTGAC	ENSP00000507268.1:p.Glu136=
ENST00000683255.1:c.408_429delinsGGCATTGCAAAAGCTCATTGAC	ENSP00000508340.1:p.Glu136=
ENST00000683496.1:c.408_429delinsGGCATTGCAAAAGCTCATTGAC	ENSP00000506968.1:p.Glu136=
ENST00000683573.1:c.408_429delinsGGCATTGCAAAAGCTCATTGAC	ENSP00000508031.1:p.Glu136=
ENST00000683734.1:c.408_429delinsGGCATTGCAAAAGCTCATTGAC	ENSP00000508319.1:p.Glu136=
ENST00000684038.1:c.408_429delinsGGCATTGCAAAAGCTCATTGAC	ENSP00000507141.1:p.Glu136=
ENST00000684235.1:c.408_429delinsGGCATTGCAAAAGCTCATTGAC	ENSP00000508295.1:p.Glu136=
ENST00000684490.1:n.423_444delinsGGCATTGCAAAAGCTCATTGAC
ENST00000684676.1:c.408_429delinsGGCATTGCAAAAGCTCATTGAC	ENSP00000506948.1:p.Glu136=
ENST00000261866.12:c.408_429delinsGGCATTGCAAAAGCTCATTGAC MANE Select	ENSP00000261866.7:p.Glu136=
ENST00000261866.11:c.408_429delinsGGCATTGCAAAAGCTCATTGAC	ENSP00000261866.7:p.Glu136=
ENST00000427534.6:c.408_429delinsGGCATTGCAAAAGCTCATTGAC	ENSP00000396110.2:p.Glu136=
ENST00000535302.6:c.408_429delinsGGCATTGCAAAAGCTCATTGAC	ENSP00000445278.2:p.Glu136=
ENST00000558319.5:c.408_429delinsGGCATTGCAAAAGCTCATTGAC	ENSP00000453599.1:p.Glu136=
ENST00000559193.5:c.408_429delinsGGCATTGCAAAAGCTCATTGAC	ENSP00000453848.1:p.Glu136=
NM_001160227.1:c.408_429delinsGGCATTGCAAAAGCTCATTGAC	NP_001153699.1:p.Glu136=
NM_025137.3:c.408_429delinsGGCATTGCAAAAGCTCATTGAC	NP_079413.3:p.Glu136=
XM_005254695.3:c.408_429delinsGGCATTGCAAAAGCTCATTGAC	XP_005254752.1:p.Glu136=
XM_006720700.1:c.408_429delinsGGCATTGCAAAAGCTCATTGAC	XP_006720763.1:p.Glu136=
XM_006720701.2:c.408_429delinsGGCATTGCAAAAGCTCATTGAC	XP_006720764.1:p.Glu136=
XM_011522093.1:c.408_429delinsGGCATTGCAAAAGCTCATTGAC	XP_011520395.1:p.Glu136=
XR_931917.1:n.439_460delinsGGCATTGCAAAAGCTCATTGAC
XM_006720701.3:c.408_429delinsGGCATTGCAAAAGCTCATTGAC	XP_006720764.1:p.Glu136=
XM_017022634.1:c.408_429delinsGGCATTGCAAAAGCTCATTGAC	XP_016878123.1:p.Glu136=
XM_017022635.2:c.408_429delinsGGCATTGCAAAAGCTCATTGAC	XP_016878124.1:p.Glu136=
XR_001751402.1:n.439_460delinsGGCATTGCAAAAGCTCATTGAC
XR_931917.2:n.439_460delinsGGCATTGCAAAAGCTCATTGAC
NM_025137.4:c.408_429delinsGGCATTGCAAAAGCTCATTGAC MANE Select	NP_079413.3:p.Glu136=
NM_001160227.2:c.408_429delinsGGCATTGCAAAAGCTCATTGAC	NP_001153699.1:p.Glu136=