Canonical Allele Identifier: CA2173701362

Gene: SPG11

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44598844_44598849delinsAGAAAG , CM000677.2:g.44598844_44598849delinsAGAAAG	GRCh38
NC_000015.9:g.44891042_44891047delinsAGAAAG , CM000677.1:g.44891042_44891047delinsAGAAAG	GRCh37
NC_000015.8:g.42678334_42678339delinsAGAAAG	NCBI36
NG_008885.1:g.69830_69835delinsCTTTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.3687-13_3687-8delinsCTTTCT	ENSP00000453246.2:n.3687-13_3687-8delinsCTTTCT
ENST00000682065.1:c.3687-13_3687-8delinsCTTTCT	ENSP00000507025.1:n.3687-13_3687-8delinsCTTTCT
ENST00000682460.1:c.*107-13_*107-8delinsCTTTCT	ENSP00000508334.1:n.*107-13_*107-8delinsCTTTCT
ENST00000682495.1:c.*179-13_*179-8delinsCTTTCT	ENSP00000507166.1:n.*179-13_*179-8delinsCTTTCT
ENST00000682669.1:c.3486-13_3486-8delinsCTTTCT	ENSP00000507782.1:n.3486-13_3486-8delinsCTTTCT
ENST00000682788.1:c.3687-13_3687-8delinsCTTTCT	ENSP00000508089.1:n.3687-13_3687-8delinsCTTTCT
ENST00000682915.1:c.3780-13_3780-8delinsCTTTCT	ENSP00000507493.1:n.3780-13_3780-8delinsCTTTCT
ENST00000683121.1:c.3687-13_3687-8delinsCTTTCT	ENSP00000507557.1:n.3687-13_3687-8delinsCTTTCT
ENST00000683186.1:c.*450-13_*450-8delinsCTTTCT	ENSP00000507268.1:n.*450-13_*450-8delinsCTTTCT
ENST00000683496.1:c.3687-13_3687-8delinsCTTTCT	ENSP00000506968.1:n.3687-13_3687-8delinsCTTTCT
ENST00000683734.1:c.3687-13_3687-8delinsCTTTCT	ENSP00000508319.1:n.3687-13_3687-8delinsCTTTCT
ENST00000683753.1:n.2733-13_2733-8delinsCTTTCT
ENST00000683838.1:n.761-13_761-8delinsCTTTCT
ENST00000684038.1:c.*107-13_*107-8delinsCTTTCT	ENSP00000507141.1:n.*107-13_*107-8delinsCTTTCT
ENST00000684235.1:c.3687-13_3687-8delinsCTTTCT	ENSP00000508295.1:n.3687-13_3687-8delinsCTTTCT
ENST00000684676.1:c.3687-13_3687-8delinsCTTTCT	ENSP00000506948.1:n.3687-13_3687-8delinsCTTTCT
ENST00000261866.12:c.3687-13_3687-8delinsCTTTCT MANE Select	ENSP00000261866.7:n.3687-13_3687-8delinsCTTTCT
ENST00000261866.11:c.3687-13_3687-8delinsCTTTCT	ENSP00000261866.7:n.3687-13_3687-8delinsCTTTCT
ENST00000427534.6:c.3687-13_3687-8delinsCTTTCT	ENSP00000396110.2:n.3687-13_3687-8delinsCTTTCT
ENST00000535302.6:c.3687-13_3687-8delinsCTTTCT	ENSP00000445278.2:n.3687-13_3687-8delinsCTTTCT
ENST00000558093.1:n.301-13_301-8delinsCTTTCT
ENST00000558319.5:c.3687-13_3687-8delinsCTTTCT	ENSP00000453599.1:n.3687-13_3687-8delinsCTTTCT
NM_001160227.1:c.3687-13_3687-8delinsCTTTCT	NP_001153699.1:n.3687-13_3687-8delinsCTTTCT
NM_025137.3:c.3687-13_3687-8delinsCTTTCT	NP_079413.3:n.3687-13_3687-8delinsCTTTCT
XM_005254695.3:c.3429-13_3429-8delinsCTTTCT	XP_005254752.1:n.3429-13_3429-8delinsCTTTCT
XM_006720700.1:c.3687-13_3687-8delinsCTTTCT	XP_006720763.1:n.3687-13_3687-8delinsCTTTCT
XM_006720701.2:c.3687-13_3687-8delinsCTTTCT	XP_006720764.1:n.3687-13_3687-8delinsCTTTCT
XM_011522093.1:c.3687-476_3687-471delinsCTTTCT	XP_011520395.1:n.3687-476_3687-471delinsCTTTCT
XR_931917.1:n.3718-13_3718-8delinsCTTTCT
XM_006720701.3:c.3687-13_3687-8delinsCTTTCT	XP_006720764.1:n.3687-13_3687-8delinsCTTTCT
XM_017022634.1:c.3687-13_3687-8delinsCTTTCT	XP_016878123.1:n.3687-13_3687-8delinsCTTTCT
XM_017022635.2:c.3687-13_3687-8delinsCTTTCT	XP_016878124.1:n.3687-13_3687-8delinsCTTTCT
XM_017022636.1:c.564-13_564-8delinsCTTTCT	XP_016878125.1:n.564-13_564-8delinsCTTTCT
XR_001751402.1:n.3718-476_3718-471delinsCTTTCT
XR_931917.2:n.3718-13_3718-8delinsCTTTCT
NM_025137.4:c.3687-13_3687-8delinsCTTTCT MANE Select	NP_079413.3:n.3687-13_3687-8delinsCTTTCT
NM_001160227.2:c.3687-13_3687-8delinsCTTTCT	NP_001153699.1:n.3687-13_3687-8delinsCTTTCT