Canonical Allele Identifier: CA2173685836

Gene: SPG11

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44584202_44584215delinsGATCTGTCGAGAAA , CM000677.2:g.44584202_44584215delinsGATCTGTCGAGAAA	GRCh38
NC_000015.9:g.44876400_44876413delinsGATCTGTCGAGAAA , CM000677.1:g.44876400_44876413delinsGATCTGTCGAGAAA	GRCh37
NC_000015.8:g.42663692_42663705delinsGATCTGTCGAGAAA	NCBI36
NG_008885.1:g.84464_84477delinsTTTCTCGACAGATC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5465_5478delinsTTTCTCGACAGATC	ENSP00000453246.2:p.Phe1822=
ENST00000561391.2:n.1693_1706delinsTTTCTCGACAGATC
ENST00000682065.1:c.5321_5334delinsTTTCTCGACAGATC	ENSP00000507025.1:p.Phe1774=
ENST00000682460.1:c.*1722_*1735delinsTTTCTCGACAGATC	ENSP00000508334.1:n.*1722_*1735delinsTTTCTCGACAGATC
ENST00000682495.1:c.*1957_*1970delinsTTTCTCGACAGATC	ENSP00000507166.1:n.*1957_*1970delinsTTTCTCGACAGATC
ENST00000682669.1:c.5264_5277delinsTTTCTCGACAGATC	ENSP00000507782.1:p.Phe1755=
ENST00000683186.1:c.*2228_*2241delinsTTTCTCGACAGATC	ENSP00000507268.1:n.*2228_*2241delinsTTTCTCGACAGATC
ENST00000683496.1:c.5465_5478delinsTTTCTCGACAGATC	ENSP00000506968.1:p.Phe1822=
ENST00000683734.1:c.5465_5478delinsTTTCTCGACAGATC	ENSP00000508319.1:p.Phe1822=
ENST00000683753.1:n.4511_4524delinsTTTCTCGACAGATC
ENST00000684038.1:c.*1885_*1898delinsTTTCTCGACAGATC	ENSP00000507141.1:n.*1885_*1898delinsTTTCTCGACAGATC
ENST00000684235.1:c.5465_5478delinsTTTCTCGACAGATC	ENSP00000508295.1:p.Phe1822=
ENST00000684676.1:c.5465_5478delinsTTTCTCGACAGATC	ENSP00000506948.1:p.Phe1822=
ENST00000261866.12:c.5465_5478delinsTTTCTCGACAGATC MANE Select	ENSP00000261866.7:p.Phe1822=
ENST00000261866.11:c.5465_5478delinsTTTCTCGACAGATC	ENSP00000261866.7:p.Phe1822=
ENST00000427534.6:c.5465_5478delinsTTTCTCGACAGATC	ENSP00000396110.2:p.Phe1822=
ENST00000535302.6:c.5465_5478delinsTTTCTCGACAGATC	ENSP00000445278.2:p.Phe1822=
ENST00000558319.5:c.5465_5478delinsTTTCTCGACAGATC	ENSP00000453599.1:p.Phe1822=
ENST00000559511.5:c.313_326delinsTTTCTCGACAGATC
ENST00000559822.1:c.237_250delinsTTTCTCGACAGATC
NM_001160227.1:c.5465_5478delinsTTTCTCGACAGATC	NP_001153699.1:p.Phe1822=
NM_025137.3:c.5465_5478delinsTTTCTCGACAGATC	NP_079413.3:p.Phe1822=
XM_005254695.3:c.5207_5220delinsTTTCTCGACAGATC	XP_005254752.1:p.Phe1736=
XM_006720700.1:c.5321_5334delinsTTTCTCGACAGATC	XP_006720763.1:p.Phe1774=
XM_017022634.1:c.5465_5478delinsTTTCTCGACAGATC	XP_016878123.1:p.Phe1822=
XM_017022636.1:c.2342_2355delinsTTTCTCGACAGATC	XP_016878125.1:p.Phe781=
NM_025137.4:c.5465_5478delinsTTTCTCGACAGATC MANE Select	NP_079413.3:p.Phe1822=
NM_001160227.2:c.5465_5478delinsTTTCTCGACAGATC	NP_001153699.1:p.Phe1822=