Canonical Allele Identifier: CA2173686778

Gene: SPG11

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44584529_44584530delinsGT , CM000677.2:g.44584529_44584530delinsGT	GRCh38
NC_000015.9:g.44876727_44876728delinsGT , CM000677.1:g.44876727_44876728delinsGT	GRCh37
NC_000015.8:g.42664019_42664020delinsGT	NCBI36
NG_008885.1:g.84149_84150delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5150_5151delinsAC	ENSP00000453246.2:p.His1717=
ENST00000561391.2:n.1378_1379delinsAC
ENST00000682065.1:c.5122-116_5122-115delinsAC	ENSP00000507025.1:n.5122-116_5122-115delinsAC
ENST00000682460.1:c.*1407_*1408delinsAC	ENSP00000508334.1:n.*1407_*1408delinsAC
ENST00000682495.1:c.*1642_*1643delinsAC	ENSP00000507166.1:n.*1642_*1643delinsAC
ENST00000682669.1:c.4949_4950delinsAC	ENSP00000507782.1:p.His1650=
ENST00000683186.1:c.*1913_*1914delinsAC	ENSP00000507268.1:n.*1913_*1914delinsAC
ENST00000683496.1:c.5150_5151delinsAC	ENSP00000506968.1:p.His1717=
ENST00000683734.1:c.5150_5151delinsAC	ENSP00000508319.1:p.His1717=
ENST00000683753.1:n.4196_4197delinsAC
ENST00000684038.1:c.*1570_*1571delinsAC	ENSP00000507141.1:n.*1570_*1571delinsAC
ENST00000684235.1:c.5150_5151delinsAC	ENSP00000508295.1:p.His1717=
ENST00000684676.1:c.5150_5151delinsAC	ENSP00000506948.1:p.His1717=
ENST00000261866.12:c.5150_5151delinsAC MANE Select	ENSP00000261866.7:p.His1717=
ENST00000261866.11:c.5150_5151delinsAC	ENSP00000261866.7:p.His1717=
ENST00000427534.6:c.5150_5151delinsAC	ENSP00000396110.2:p.His1717=
ENST00000535302.6:c.5150_5151delinsAC	ENSP00000445278.2:p.His1717=
ENST00000558319.5:c.5150_5151delinsAC	ENSP00000453599.1:p.His1717=
ENST00000558790.5:n.587_588delinsAC
NM_001160227.1:c.5150_5151delinsAC	NP_001153699.1:p.His1717=
NM_025137.3:c.5150_5151delinsAC	NP_079413.3:p.His1717=
XM_005254695.3:c.4892_4893delinsAC	XP_005254752.1:p.His1631=
XM_006720700.1:c.5122-116_5122-115delinsAC	XP_006720763.1:n.5122-116_5122-115delinsAC
XM_017022634.1:c.5150_5151delinsAC	XP_016878123.1:p.His1717=
XM_017022636.1:c.2027_2028delinsAC	XP_016878125.1:p.His676=
XR_931917.2:n.5204_5205delinsAC
NM_025137.4:c.5150_5151delinsAC MANE Select	NP_079413.3:p.His1717=
NM_001160227.2:c.5150_5151delinsAC	NP_001153699.1:p.His1717=