Canonical Allele Identifier: CA2173686317

Gene: SPG11

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44584344_44584345delinsGC , CM000677.2:g.44584344_44584345delinsGC	GRCh38
NC_000015.9:g.44876542_44876543delinsGC , CM000677.1:g.44876542_44876543delinsGC	GRCh37
NC_000015.8:g.42663834_42663835delinsGC	NCBI36
NG_008885.1:g.84334_84335delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5335_5336delinsGC	ENSP00000453246.2:p.Ala1779=
ENST00000561391.2:n.1563_1564delinsGC
ENST00000682065.1:c.5191_5192delinsGC	ENSP00000507025.1:p.Ala1731=
ENST00000682460.1:c.*1592_*1593delinsGC	ENSP00000508334.1:n.*1592_*1593delinsGC
ENST00000682495.1:c.*1827_*1828delinsGC	ENSP00000507166.1:n.*1827_*1828delinsGC
ENST00000682669.1:c.5134_5135delinsGC	ENSP00000507782.1:p.Ala1712=
ENST00000683186.1:c.*2098_*2099delinsGC	ENSP00000507268.1:n.*2098_*2099delinsGC
ENST00000683496.1:c.5335_5336delinsGC	ENSP00000506968.1:p.Ala1779=
ENST00000683734.1:c.5335_5336delinsGC	ENSP00000508319.1:p.Ala1779=
ENST00000683753.1:n.4381_4382delinsGC
ENST00000684038.1:c.*1755_*1756delinsGC	ENSP00000507141.1:n.*1755_*1756delinsGC
ENST00000684235.1:c.5335_5336delinsGC	ENSP00000508295.1:p.Ala1779=
ENST00000684676.1:c.5335_5336delinsGC	ENSP00000506948.1:p.Ala1779=
ENST00000261866.12:c.5335_5336delinsGC MANE Select	ENSP00000261866.7:p.Ala1779=
ENST00000261866.11:c.5335_5336delinsGC	ENSP00000261866.7:p.Ala1779=
ENST00000427534.6:c.5335_5336delinsGC	ENSP00000396110.2:p.Ala1779=
ENST00000535302.6:c.5335_5336delinsGC	ENSP00000445278.2:p.Ala1779=
ENST00000558319.5:c.5335_5336delinsGC	ENSP00000453599.1:p.Ala1779=
ENST00000558790.5:n.772_773delinsGC
ENST00000559511.5:c.183_184delinsGC
ENST00000559822.1:c.107_108delinsGC
NM_001160227.1:c.5335_5336delinsGC	NP_001153699.1:p.Ala1779=
NM_025137.3:c.5335_5336delinsGC	NP_079413.3:p.Ala1779=
XM_005254695.3:c.5077_5078delinsGC	XP_005254752.1:p.Ala1693=
XM_006720700.1:c.5191_5192delinsGC	XP_006720763.1:p.Ala1731=
XM_017022634.1:c.5335_5336delinsGC	XP_016878123.1:p.Ala1779=
XM_017022636.1:c.2212_2213delinsGC	XP_016878125.1:p.Ala738=
XR_931917.2:n.5389_5390delinsGC
NM_025137.4:c.5335_5336delinsGC MANE Select	NP_079413.3:p.Ala1779=
NM_001160227.2:c.5335_5336delinsGC	NP_001153699.1:p.Ala1779=