Canonical Allele Identifier: CA2173685756

Gene: SPG11

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44584146_44584148delinsTTG , CM000677.2:g.44584146_44584148delinsTTG	GRCh38
NC_000015.9:g.44876344_44876346delinsTTG , CM000677.1:g.44876344_44876346delinsTTG	GRCh37
NC_000015.8:g.42663636_42663638delinsTTG	NCBI36
NG_008885.1:g.84531_84533delinsCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5532_5534delinsCAA	ENSP00000453246.2:p.Ser1844=
ENST00000561391.2:n.1760_1762delinsCAA
ENST00000682065.1:c.5388_5390delinsCAA	ENSP00000507025.1:p.Ser1796=
ENST00000682460.1:c.*1789_*1791delinsCAA	ENSP00000508334.1:n.*1789_*1791delinsCAA
ENST00000682495.1:c.*2024_*2026delinsCAA	ENSP00000507166.1:n.*2024_*2026delinsCAA
ENST00000682669.1:c.5331_5333delinsCAA	ENSP00000507782.1:p.Ser1777=
ENST00000683186.1:c.*2295_*2297delinsCAA	ENSP00000507268.1:n.*2295_*2297delinsCAA
ENST00000683496.1:c.5532_5534delinsCAA	ENSP00000506968.1:p.Ser1844=
ENST00000683734.1:c.5532_5534delinsCAA	ENSP00000508319.1:p.Ser1844=
ENST00000683753.1:n.4578_4580delinsCAA
ENST00000684038.1:c.*1952_*1954delinsCAA	ENSP00000507141.1:n.*1952_*1954delinsCAA
ENST00000684235.1:c.5532_5534delinsCAA	ENSP00000508295.1:p.Ser1844=
ENST00000684676.1:c.5515+17_5515+19delinsCAA	ENSP00000506948.1:n.5515+17_5515+19delinsCAA
ENST00000261866.12:c.5532_5534delinsCAA MANE Select	ENSP00000261866.7:p.Ser1844=
ENST00000261866.11:c.5532_5534delinsCAA	ENSP00000261866.7:p.Ser1844=
ENST00000427534.6:c.5532_5534delinsCAA	ENSP00000396110.2:p.Ser1844=
ENST00000535302.6:c.5532_5534delinsCAA	ENSP00000445278.2:p.Ser1844=
ENST00000558319.5:c.5532_5534delinsCAA	ENSP00000453599.1:p.Ser1844=
ENST00000559511.5:c.380_382delinsCAA
ENST00000559822.1:c.287+17_287+19delinsCAA
NM_001160227.1:c.5532_5534delinsCAA	NP_001153699.1:p.Ser1844=
NM_025137.3:c.5532_5534delinsCAA	NP_079413.3:p.Ser1844=
XM_005254695.3:c.5274_5276delinsCAA	XP_005254752.1:p.Ser1758=
XM_006720700.1:c.5388_5390delinsCAA	XP_006720763.1:p.Ser1796=
XM_017022634.1:c.5532_5534delinsCAA	XP_016878123.1:p.Ser1844=
XM_017022636.1:c.2409_2411delinsCAA	XP_016878125.1:p.Ser803=
NM_025137.4:c.5532_5534delinsCAA MANE Select	NP_079413.3:p.Ser1844=
NM_001160227.2:c.5532_5534delinsCAA	NP_001153699.1:p.Ser1844=