Canonical Allele Identifier: CA2173686896

Gene: SPG11

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44584580_44584581delinsAT , CM000677.2:g.44584580_44584581delinsAT	GRCh38
NC_000015.9:g.44876778_44876779delinsAT , CM000677.1:g.44876778_44876779delinsAT	GRCh37
NC_000015.8:g.42664070_42664071delinsAT	NCBI36
NG_008885.1:g.84098_84099delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5122-23_5122-22delinsAT	ENSP00000453246.2:n.5122-23_5122-22delinsAT
ENST00000561391.2:n.1350-23_1350-22delinsAT
ENST00000682065.1:c.5122-167_5122-166delinsAT	ENSP00000507025.1:n.5122-167_5122-166delinsAT
ENST00000682460.1:c.*1379-23_*1379-22delinsAT	ENSP00000508334.1:n.*1379-23_*1379-22delinsAT
ENST00000682495.1:c.*1614-23_*1614-22delinsAT	ENSP00000507166.1:n.*1614-23_*1614-22delinsAT
ENST00000682669.1:c.4921-23_4921-22delinsAT	ENSP00000507782.1:n.4921-23_4921-22delinsAT
ENST00000683186.1:c.*1885-23_*1885-22delinsAT	ENSP00000507268.1:n.*1885-23_*1885-22delinsAT
ENST00000683496.1:c.5122-23_5122-22delinsAT	ENSP00000506968.1:n.5122-23_5122-22delinsAT
ENST00000683734.1:c.5122-23_5122-22delinsAT	ENSP00000508319.1:n.5122-23_5122-22delinsAT
ENST00000683753.1:n.4168-23_4168-22delinsAT
ENST00000684038.1:c.*1542-23_*1542-22delinsAT	ENSP00000507141.1:n.*1542-23_*1542-22delinsAT
ENST00000684235.1:c.5122-23_5122-22delinsAT	ENSP00000508295.1:n.5122-23_5122-22delinsAT
ENST00000684676.1:c.5122-23_5122-22delinsAT	ENSP00000506948.1:n.5122-23_5122-22delinsAT
ENST00000261866.12:c.5122-23_5122-22delinsAT MANE Select	ENSP00000261866.7:n.5122-23_5122-22delinsAT
ENST00000261866.11:c.5122-23_5122-22delinsAT	ENSP00000261866.7:n.5122-23_5122-22delinsAT
ENST00000427534.6:c.5122-23_5122-22delinsAT	ENSP00000396110.2:n.5122-23_5122-22delinsAT
ENST00000535302.6:c.5122-23_5122-22delinsAT	ENSP00000445278.2:n.5122-23_5122-22delinsAT
ENST00000558319.5:c.5122-23_5122-22delinsAT	ENSP00000453599.1:n.5122-23_5122-22delinsAT
ENST00000558790.5:n.559-23_559-22delinsAT
NM_001160227.1:c.5122-23_5122-22delinsAT	NP_001153699.1:n.5122-23_5122-22delinsAT
NM_025137.3:c.5122-23_5122-22delinsAT	NP_079413.3:n.5122-23_5122-22delinsAT
XM_005254695.3:c.4864-23_4864-22delinsAT	XP_005254752.1:n.4864-23_4864-22delinsAT
XM_006720700.1:c.5122-167_5122-166delinsAT	XP_006720763.1:n.5122-167_5122-166delinsAT
XM_017022634.1:c.5122-23_5122-22delinsAT	XP_016878123.1:n.5122-23_5122-22delinsAT
XM_017022636.1:c.1999-23_1999-22delinsAT	XP_016878125.1:n.1999-23_1999-22delinsAT
XR_931917.2:n.5176-23_5176-22delinsAT
NM_025137.4:c.5122-23_5122-22delinsAT MANE Select	NP_079413.3:n.5122-23_5122-22delinsAT
NM_001160227.2:c.5122-23_5122-22delinsAT	NP_001153699.1:n.5122-23_5122-22delinsAT