Canonical Allele Identifier: CA2575708267

Gene: SPG11

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44567349_44567351del , CM000677.2:g.44567349_44567351del	GRCh38
NC_000015.9:g.44859547_44859549del , CM000677.1:g.44859547_44859549del	GRCh37
NC_000015.8:g.42646839_42646841del	NCBI36
NG_008885.1:g.101328_101330del

Transcript Alleles

HGVS	Amino-acid change
ENST00000558138.2:c.445+73_445+75del	ENSP00000453314.2:n.445+73_445+75del
ENST00000559511.6:c.6277+73_6277+75del	ENSP00000453246.2:n.6277+73_6277+75del
ENST00000682065.1:c.6610+73_6610+75del	ENSP00000507025.1:n.6610+73_6610+75del
ENST00000682460.1:c.*3011+73_*3011+75del	ENSP00000508334.1:n.*3011+73_*3011+75del
ENST00000682495.1:c.*3246+73_*3246+75del	ENSP00000507166.1:n.*3246+73_*3246+75del
ENST00000682669.1:c.6553+73_6553+75del	ENSP00000507782.1:n.6553+73_6553+75del
ENST00000683186.1:c.*3517+73_*3517+75del	ENSP00000507268.1:n.*3517+73_*3517+75del
ENST00000683496.1:c.*396+73_*396+75del	ENSP00000506968.1:n.*396+73_*396+75del
ENST00000683734.1:c.*704+73_*704+75del	ENSP00000508319.1:n.*704+73_*704+75del
ENST00000683753.1:n.5800+73_5800+75del
ENST00000684038.1:c.*3174+73_*3174+75del	ENSP00000507141.1:n.*3174+73_*3174+75del
ENST00000684235.1:c.6754+73_6754+75del	ENSP00000508295.1:n.6754+73_6754+75del
ENST00000261866.12:c.6754+73_6754+75del MANE Select	ENSP00000261866.7:n.6754+73_6754+75del
ENST00000261866.11:c.6754+73_6754+75del	ENSP00000261866.7:n.6754+73_6754+75del
ENST00000427534.6:c.6754+73_6754+75del	ENSP00000396110.2:n.6754+73_6754+75del
ENST00000535302.6:c.6415+73_6415+75del	ENSP00000445278.2:n.6415+73_6415+75del
ENST00000558138.1:c.445+73_445+75del	ENSP00000453314.1:n.445+73_445+75del
ENST00000559347.1:n.583+73_583+75del
ENST00000559511.5:c.1125+73_1125+75del
ENST00000561268.5:n.517_519del
NM_001160227.1:c.6415+73_6415+75del	NP_001153699.1:n.6415+73_6415+75del
NM_025137.3:c.6754+73_6754+75del	NP_079413.3:n.6754+73_6754+75del
XM_005254695.3:c.6496+73_6496+75del	XP_005254752.1:n.6496+73_6496+75del
XM_006720700.1:c.6610+73_6610+75del	XP_006720763.1:n.6610+73_6610+75del
XM_017022634.1:c.6646+73_6646+75del	XP_016878123.1:n.6646+73_6646+75del
XM_017022636.1:c.3631+73_3631+75del	XP_016878125.1:n.3631+73_3631+75del
NM_025137.4:c.6754+73_6754+75del MANE Select	NP_079413.3:n.6754+73_6754+75del
NM_001160227.2:c.6415+73_6415+75del	NP_001153699.1:n.6415+73_6415+75del