Canonical Allele Identifier: CA2173694808

Gene: SPG11

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44584057_44584059delinsGCT , CM000677.2:g.44584057_44584059delinsGCT	GRCh38
NC_000015.9:g.44876255_44876257delinsGCT , CM000677.1:g.44876255_44876257delinsGCT	GRCh37
NC_000015.8:g.42663547_42663549delinsGCT	NCBI36
NG_008885.1:g.84620_84622delinsAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5621_5623delinsAGC	ENSP00000453246.2:p.Glu1874=
ENST00000561391.2:n.1849_1851delinsAGC
ENST00000682065.1:c.5477_5479delinsAGC	ENSP00000507025.1:p.Glu1826=
ENST00000682460.1:c.*1878_*1880delinsAGC	ENSP00000508334.1:n.*1878_*1880delinsAGC
ENST00000682495.1:c.*2113_*2115delinsAGC	ENSP00000507166.1:n.*2113_*2115delinsAGC
ENST00000682669.1:c.5420_5422delinsAGC	ENSP00000507782.1:p.Glu1807=
ENST00000683186.1:c.*2384_*2386delinsAGC	ENSP00000507268.1:n.*2384_*2386delinsAGC
ENST00000683496.1:c.5621_5623delinsAGC	ENSP00000506968.1:p.Glu1874=
ENST00000683734.1:c.5621_5623delinsAGC	ENSP00000508319.1:p.Glu1874=
ENST00000683753.1:n.4667_4669delinsAGC
ENST00000684038.1:c.*2041_*2043delinsAGC	ENSP00000507141.1:n.*2041_*2043delinsAGC
ENST00000684235.1:c.5621_5623delinsAGC	ENSP00000508295.1:p.Glu1874=
ENST00000684676.1:c.5515+106_5515+108delinsAGC	ENSP00000506948.1:n.5515+106_5515+108delinsAGC
ENST00000261866.12:c.5621_5623delinsAGC MANE Select	ENSP00000261866.7:p.Glu1874=
ENST00000261866.11:c.5621_5623delinsAGC	ENSP00000261866.7:p.Glu1874=
ENST00000427534.6:c.5621_5623delinsAGC	ENSP00000396110.2:p.Glu1874=
ENST00000535302.6:c.5621_5623delinsAGC	ENSP00000445278.2:p.Glu1874=
ENST00000558319.5:c.5621_5623delinsAGC	ENSP00000453599.1:p.Glu1874=
ENST00000559511.5:c.469_471delinsAGC
ENST00000559822.1:c.287+106_287+108delinsAGC
NM_001160227.1:c.5621_5623delinsAGC	NP_001153699.1:p.Glu1874=
NM_025137.3:c.5621_5623delinsAGC	NP_079413.3:p.Glu1874=
XM_005254695.3:c.5363_5365delinsAGC	XP_005254752.1:p.Glu1788=
XM_006720700.1:c.5477_5479delinsAGC	XP_006720763.1:p.Glu1826=
XM_017022634.1:c.5621_5623delinsAGC	XP_016878123.1:p.Glu1874=
XM_017022636.1:c.2498_2500delinsAGC	XP_016878125.1:p.Glu833=
NM_025137.4:c.5621_5623delinsAGC MANE Select	NP_079413.3:p.Glu1874=
NM_001160227.2:c.5621_5623delinsAGC	NP_001153699.1:p.Glu1874=