Canonical Allele Identifier: CA2173689448

Gene: SPG11

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44573565_44573566delinsTA , CM000677.2:g.44573565_44573566delinsTA	GRCh38
NC_000015.9:g.44865763_44865764delinsTA , CM000677.1:g.44865763_44865764delinsTA	GRCh37
NC_000015.8:g.42653055_42653056delinsTA	NCBI36
NG_008885.1:g.95113_95114delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5867-2908_5867-2907delinsTA	ENSP00000453246.2:n.5867-2908_5867-2907delinsTA
ENST00000561391.2:n.2414_2415delinsTA
ENST00000682065.1:c.6042_6043delinsTA	ENSP00000507025.1:p.Leu2014=
ENST00000682460.1:c.*2443_*2444delinsTA	ENSP00000508334.1:n.*2443_*2444delinsTA
ENST00000682495.1:c.*2678_*2679delinsTA	ENSP00000507166.1:n.*2678_*2679delinsTA
ENST00000682669.1:c.5985_5986delinsTA	ENSP00000507782.1:p.Leu1995=
ENST00000683186.1:c.*2949_*2950delinsTA	ENSP00000507268.1:n.*2949_*2950delinsTA
ENST00000683496.1:c.6006+1336_6006+1337delinsTA	ENSP00000506968.1:n.6006+1336_6006+1337delinsTA
ENST00000683734.1:c.*136_*137delinsTA	ENSP00000508319.1:n.*136_*137delinsTA
ENST00000683753.1:n.5232_5233delinsTA
ENST00000684038.1:c.*2606_*2607delinsTA	ENSP00000507141.1:n.*2606_*2607delinsTA
ENST00000684235.1:c.6186_6187delinsTA	ENSP00000508295.1:p.Leu2062=
ENST00000684676.1:c.*335_*336delinsTA	ENSP00000506948.1:n.*335_*336delinsTA
ENST00000261866.12:c.6186_6187delinsTA MANE Select	ENSP00000261866.7:p.Leu2062=
ENST00000261866.11:c.6186_6187delinsTA	ENSP00000261866.7:p.Leu2062=
ENST00000427534.6:c.6186_6187delinsTA	ENSP00000396110.2:p.Leu2062=
ENST00000535302.6:c.5867-746_5867-745delinsTA	ENSP00000445278.2:n.5867-746_5867-745delinsTA
ENST00000558080.1:n.551_552delinsTA
ENST00000558319.5:c.6186_6187delinsTA	ENSP00000453599.1:p.Leu2062=
ENST00000559511.5:c.715-2908_715-2907delinsTA
ENST00000559933.1:n.255_256delinsTA
ENST00000561268.5:n.118_119delinsTA
NM_001160227.1:c.5867-746_5867-745delinsTA	NP_001153699.1:n.5867-746_5867-745delinsTA
NM_025137.3:c.6186_6187delinsTA	NP_079413.3:p.Leu2062=
XM_005254695.3:c.5928_5929delinsTA	XP_005254752.1:p.Leu1976=
XM_006720700.1:c.6042_6043delinsTA	XP_006720763.1:p.Leu2014=
XM_017022634.1:c.6186_6187delinsTA	XP_016878123.1:p.Leu2062=
XM_017022636.1:c.3063_3064delinsTA	XP_016878125.1:p.Leu1021=
NM_025137.4:c.6186_6187delinsTA MANE Select	NP_079413.3:p.Leu2062=
NM_001160227.2:c.5867-746_5867-745delinsTA	NP_001153699.1:n.5867-746_5867-745delinsTA