Canonical Allele Identifier: CA2173685921

Gene: SPG11

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44584222_44584224delinsGCT , CM000677.2:g.44584222_44584224delinsGCT	GRCh38
NC_000015.9:g.44876420_44876422delinsGCT , CM000677.1:g.44876420_44876422delinsGCT	GRCh37
NC_000015.8:g.42663712_42663714delinsGCT	NCBI36
NG_008885.1:g.84455_84457delinsAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5456_5458delinsAGC	ENSP00000453246.2:p.Glu1819=
ENST00000561391.2:n.1684_1686delinsAGC
ENST00000682065.1:c.5312_5314delinsAGC	ENSP00000507025.1:p.Glu1771=
ENST00000682460.1:c.*1713_*1715delinsAGC	ENSP00000508334.1:n.*1713_*1715delinsAGC
ENST00000682495.1:c.*1948_*1950delinsAGC	ENSP00000507166.1:n.*1948_*1950delinsAGC
ENST00000682669.1:c.5255_5257delinsAGC	ENSP00000507782.1:p.Glu1752=
ENST00000683186.1:c.*2219_*2221delinsAGC	ENSP00000507268.1:n.*2219_*2221delinsAGC
ENST00000683496.1:c.5456_5458delinsAGC	ENSP00000506968.1:p.Glu1819=
ENST00000683734.1:c.5456_5458delinsAGC	ENSP00000508319.1:p.Glu1819=
ENST00000683753.1:n.4502_4504delinsAGC
ENST00000684038.1:c.*1876_*1878delinsAGC	ENSP00000507141.1:n.*1876_*1878delinsAGC
ENST00000684235.1:c.5456_5458delinsAGC	ENSP00000508295.1:p.Glu1819=
ENST00000684676.1:c.5456_5458delinsAGC	ENSP00000506948.1:p.Glu1819=
ENST00000261866.12:c.5456_5458delinsAGC MANE Select	ENSP00000261866.7:p.Glu1819=
ENST00000261866.11:c.5456_5458delinsAGC	ENSP00000261866.7:p.Glu1819=
ENST00000427534.6:c.5456_5458delinsAGC	ENSP00000396110.2:p.Glu1819=
ENST00000535302.6:c.5456_5458delinsAGC	ENSP00000445278.2:p.Glu1819=
ENST00000558319.5:c.5456_5458delinsAGC	ENSP00000453599.1:p.Glu1819=
ENST00000559511.5:c.304_306delinsAGC
ENST00000559822.1:c.228_230delinsAGC
NM_001160227.1:c.5456_5458delinsAGC	NP_001153699.1:p.Glu1819=
NM_025137.3:c.5456_5458delinsAGC	NP_079413.3:p.Glu1819=
XM_005254695.3:c.5198_5200delinsAGC	XP_005254752.1:p.Glu1733=
XM_006720700.1:c.5312_5314delinsAGC	XP_006720763.1:p.Glu1771=
XM_017022634.1:c.5456_5458delinsAGC	XP_016878123.1:p.Glu1819=
XM_017022636.1:c.2333_2335delinsAGC	XP_016878125.1:p.Glu778=
NM_025137.4:c.5456_5458delinsAGC MANE Select	NP_079413.3:p.Glu1819=
NM_001160227.2:c.5456_5458delinsAGC	NP_001153699.1:p.Glu1819=