Canonical Allele Identifier: CA2173690244

Gene: SPG11

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44574921_44574923delinsCAG , CM000677.2:g.44574921_44574923delinsCAG	GRCh38
NC_000015.9:g.44867119_44867121delinsCAG , CM000677.1:g.44867119_44867121delinsCAG	GRCh37
NC_000015.8:g.42654411_42654413delinsCAG	NCBI36
NG_008885.1:g.93756_93758delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5867-4265_5867-4263delinsCTG	ENSP00000453246.2:n.5867-4265_5867-4263delinsCTG
ENST00000561391.2:n.2213_2215delinsCTG
ENST00000682065.1:c.5841_5843delinsCTG	ENSP00000507025.1:p.Leu1947=
ENST00000682460.1:c.*2242_*2244delinsCTG	ENSP00000508334.1:n.*2242_*2244delinsCTG
ENST00000682495.1:c.*2477_*2479delinsCTG	ENSP00000507166.1:n.*2477_*2479delinsCTG
ENST00000682669.1:c.5784_5786delinsCTG	ENSP00000507782.1:p.Leu1928=
ENST00000683186.1:c.*2748_*2750delinsCTG	ENSP00000507268.1:n.*2748_*2750delinsCTG
ENST00000683496.1:c.5985_5987delinsCTG	ENSP00000506968.1:p.Leu1995=
ENST00000683734.1:c.5867-1178_5867-1176delinsCTG	ENSP00000508319.1:n.5867-1178_5867-1176delinsCTG
ENST00000683753.1:n.5031_5033delinsCTG
ENST00000684038.1:c.*2405_*2407delinsCTG	ENSP00000507141.1:n.*2405_*2407delinsCTG
ENST00000684235.1:c.5985_5987delinsCTG	ENSP00000508295.1:p.Leu1995=
ENST00000684676.1:c.*134_*136delinsCTG	ENSP00000506948.1:n.*134_*136delinsCTG
ENST00000261866.12:c.5985_5987delinsCTG MANE Select	ENSP00000261866.7:p.Leu1995=
ENST00000261866.11:c.5985_5987delinsCTG	ENSP00000261866.7:p.Leu1995=
ENST00000427534.6:c.5985_5987delinsCTG	ENSP00000396110.2:p.Leu1995=
ENST00000535302.6:c.5867-2103_5867-2101delinsCTG	ENSP00000445278.2:n.5867-2103_5867-2101delinsCTG
ENST00000558080.1:n.350_352delinsCTG
ENST00000558319.5:c.5985_5987delinsCTG	ENSP00000453599.1:p.Leu1995=
ENST00000559511.5:c.715-4265_715-4263delinsCTG
ENST00000559822.1:c.528_530delinsCTG
NM_001160227.1:c.5867-2103_5867-2101delinsCTG	NP_001153699.1:n.5867-2103_5867-2101delinsCTG
NM_025137.3:c.5985_5987delinsCTG	NP_079413.3:p.Leu1995=
XM_005254695.3:c.5727_5729delinsCTG	XP_005254752.1:p.Leu1909=
XM_006720700.1:c.5841_5843delinsCTG	XP_006720763.1:p.Leu1947=
XM_017022634.1:c.5985_5987delinsCTG	XP_016878123.1:p.Leu1995=
XM_017022636.1:c.2862_2864delinsCTG	XP_016878125.1:p.Leu954=
NM_025137.4:c.5985_5987delinsCTG MANE Select	NP_079413.3:p.Leu1995=
NM_001160227.2:c.5867-2103_5867-2101delinsCTG	NP_001153699.1:n.5867-2103_5867-2101delinsCTG