Canonical Allele Identifier: CA2173690249

Gene: SPG11

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44574935_44574936delinsAC , CM000677.2:g.44574935_44574936delinsAC	GRCh38
NC_000015.9:g.44867133_44867134delinsAC , CM000677.1:g.44867133_44867134delinsAC	GRCh37
NC_000015.8:g.42654425_42654426delinsAC	NCBI36
NG_008885.1:g.93743_93744delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5867-4278_5867-4277delinsGT	ENSP00000453246.2:n.5867-4278_5867-4277delinsGT
ENST00000561391.2:n.2200_2201delinsGT
ENST00000682065.1:c.5828_5829delinsGT	ENSP00000507025.1:p.Cys1943=
ENST00000682460.1:c.*2229_*2230delinsGT	ENSP00000508334.1:n.*2229_*2230delinsGT
ENST00000682495.1:c.*2464_*2465delinsGT	ENSP00000507166.1:n.*2464_*2465delinsGT
ENST00000682669.1:c.5771_5772delinsGT	ENSP00000507782.1:p.Cys1924=
ENST00000683186.1:c.*2735_*2736delinsGT	ENSP00000507268.1:n.*2735_*2736delinsGT
ENST00000683496.1:c.5972_5973delinsGT	ENSP00000506968.1:p.Cys1991=
ENST00000683734.1:c.5867-1191_5867-1190delinsGT	ENSP00000508319.1:n.5867-1191_5867-1190delinsGT
ENST00000683753.1:n.5018_5019delinsGT
ENST00000684038.1:c.*2392_*2393delinsGT	ENSP00000507141.1:n.*2392_*2393delinsGT
ENST00000684235.1:c.5972_5973delinsGT	ENSP00000508295.1:p.Cys1991=
ENST00000684676.1:c.*121_*122delinsGT	ENSP00000506948.1:n.*121_*122delinsGT
ENST00000261866.12:c.5972_5973delinsGT MANE Select	ENSP00000261866.7:p.Cys1991=
ENST00000261866.11:c.5972_5973delinsGT	ENSP00000261866.7:p.Cys1991=
ENST00000427534.6:c.5972_5973delinsGT	ENSP00000396110.2:p.Cys1991=
ENST00000535302.6:c.5867-2116_5867-2115delinsGT	ENSP00000445278.2:n.5867-2116_5867-2115delinsGT
ENST00000558080.1:n.337_338delinsGT
ENST00000558319.5:c.5972_5973delinsGT	ENSP00000453599.1:p.Cys1991=
ENST00000559511.5:c.715-4278_715-4277delinsGT
ENST00000559822.1:c.515_516delinsGT
NM_001160227.1:c.5867-2116_5867-2115delinsGT	NP_001153699.1:n.5867-2116_5867-2115delinsGT
NM_025137.3:c.5972_5973delinsGT	NP_079413.3:p.Cys1991=
XM_005254695.3:c.5714_5715delinsGT	XP_005254752.1:p.Cys1905=
XM_006720700.1:c.5828_5829delinsGT	XP_006720763.1:p.Cys1943=
XM_017022634.1:c.5972_5973delinsGT	XP_016878123.1:p.Cys1991=
XM_017022636.1:c.2849_2850delinsGT	XP_016878125.1:p.Cys950=
NM_025137.4:c.5972_5973delinsGT MANE Select	NP_079413.3:p.Cys1991=
NM_001160227.2:c.5867-2116_5867-2115delinsGT	NP_001153699.1:n.5867-2116_5867-2115delinsGT