Canonical Allele Identifier: CA2552720722

Gene: SPG11

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44598799_44598803del , CM000677.2:g.44598799_44598803del	GRCh38
NC_000015.9:g.44890997_44891001del , CM000677.1:g.44890997_44891001del	GRCh37
NC_000015.8:g.42678289_42678293del	NCBI36
NG_008885.1:g.69876_69880del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.3720_3724del	ENSP00000453246.2:p.Gly1241LeufsTer22
ENST00000682065.1:c.3720_3724del	ENSP00000507025.1:p.Gly1241LeufsTer22
ENST00000682460.1:c.*140_*144del	ENSP00000508334.1:n.*140_*144del
ENST00000682495.1:c.*212_*216del	ENSP00000507166.1:n.*212_*216del
ENST00000682669.1:c.3519_3523del	ENSP00000507782.1:p.Gly1174LeufsTer22
ENST00000682788.1:c.3720_3724del	ENSP00000508089.1:p.Gly1241LeufsTer22
ENST00000682915.1:c.3813_3817del	ENSP00000507493.1:n.3813_3817del
ENST00000683121.1:c.3720_3724del	ENSP00000507557.1:p.Gly1241LeufsTer22
ENST00000683186.1:c.*483_*487del	ENSP00000507268.1:n.*483_*487del
ENST00000683496.1:c.3720_3724del	ENSP00000506968.1:p.Gly1241LeufsTer22
ENST00000683734.1:c.3720_3724del	ENSP00000508319.1:p.Gly1241LeufsTer22
ENST00000683753.1:n.2766_2770del
ENST00000683838.1:n.794_798del
ENST00000684038.1:c.*140_*144del	ENSP00000507141.1:n.*140_*144del
ENST00000684235.1:c.3720_3724del	ENSP00000508295.1:p.Gly1241LeufsTer22
ENST00000684676.1:c.3720_3724del	ENSP00000506948.1:p.Gly1241LeufsTer22
ENST00000261866.12:c.3720_3724del MANE Select	ENSP00000261866.7:p.Gly1241LeufsTer22
ENST00000261866.11:c.3720_3724del	ENSP00000261866.7:p.Gly1241LeufsTer22
ENST00000427534.6:c.3720_3724del	ENSP00000396110.2:p.Gly1241LeufsTer22
ENST00000535302.6:c.3720_3724del	ENSP00000445278.2:p.Gly1241LeufsTer22
ENST00000558093.1:n.334_338del
ENST00000558319.5:c.3720_3724del	ENSP00000453599.1:p.Gly1241LeufsTer22
NM_001160227.1:c.3720_3724del	NP_001153699.1:p.Gly1241LeufsTer22
NM_025137.3:c.3720_3724del	NP_079413.3:p.Gly1241LeufsTer22
XM_005254695.3:c.3462_3466del	XP_005254752.1:p.Gly1155LeufsTer22
XM_006720700.1:c.3720_3724del	XP_006720763.1:p.Gly1241LeufsTer22
XM_006720701.2:c.3720_3724del	XP_006720764.1:p.Gly1241LeufsTer22
XM_011522093.1:c.3687-430_3687-426del	XP_011520395.1:n.3687-430_3687-426del
XR_931917.1:n.3751_3755del
XM_006720701.3:c.3720_3724del	XP_006720764.1:p.Gly1241LeufsTer22
XM_017022634.1:c.3720_3724del	XP_016878123.1:p.Gly1241LeufsTer22
XM_017022635.2:c.3720_3724del	XP_016878124.1:p.Gly1241LeufsTer22
XM_017022636.1:c.597_601del	XP_016878125.1:p.Gly200LeufsTer22
XR_001751402.1:n.3718-430_3718-426del
XR_931917.2:n.3751_3755del
NM_025137.4:c.3720_3724del MANE Select	NP_079413.3:p.Gly1241LeufsTer22
NM_001160227.2:c.3720_3724del	NP_001153699.1:p.Gly1241LeufsTer22