Canonical Allele Identifier: CA2173687194

Gene: SPG11

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44584792_44584793delinsGC , CM000677.2:g.44584792_44584793delinsGC	GRCh38
NC_000015.9:g.44876990_44876991delinsGC , CM000677.1:g.44876990_44876991delinsGC	GRCh37
NC_000015.8:g.42664282_42664283delinsGC	NCBI36
NG_008885.1:g.83886_83887delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5122-235_5122-234delinsGC	ENSP00000453246.2:n.5122-235_5122-234delinsGC
ENST00000561391.2:n.1350-235_1350-234delinsGC
ENST00000682065.1:c.5122-379_5122-378delinsGC	ENSP00000507025.1:n.5122-379_5122-378delinsGC
ENST00000682460.1:c.*1379-235_*1379-234delinsGC	ENSP00000508334.1:n.*1379-235_*1379-234delinsGC
ENST00000682495.1:c.*1614-235_*1614-234delinsGC	ENSP00000507166.1:n.*1614-235_*1614-234delinsGC
ENST00000682669.1:c.4921-235_4921-234delinsGC	ENSP00000507782.1:n.4921-235_4921-234delinsGC
ENST00000683186.1:c.*1885-235_*1885-234delinsGC	ENSP00000507268.1:n.*1885-235_*1885-234delinsGC
ENST00000683496.1:c.5122-235_5122-234delinsGC	ENSP00000506968.1:n.5122-235_5122-234delinsGC
ENST00000683734.1:c.5122-235_5122-234delinsGC	ENSP00000508319.1:n.5122-235_5122-234delinsGC
ENST00000683753.1:n.4168-235_4168-234delinsGC
ENST00000684038.1:c.*1542-235_*1542-234delinsGC	ENSP00000507141.1:n.*1542-235_*1542-234delinsGC
ENST00000684235.1:c.5122-235_5122-234delinsGC	ENSP00000508295.1:n.5122-235_5122-234delinsGC
ENST00000684676.1:c.5122-235_5122-234delinsGC	ENSP00000506948.1:n.5122-235_5122-234delinsGC
ENST00000261866.12:c.5122-235_5122-234delinsGC MANE Select	ENSP00000261866.7:n.5122-235_5122-234delinsGC
ENST00000261866.11:c.5122-235_5122-234delinsGC	ENSP00000261866.7:n.5122-235_5122-234delinsGC
ENST00000427534.6:c.5122-235_5122-234delinsGC	ENSP00000396110.2:n.5122-235_5122-234delinsGC
ENST00000535302.6:c.5122-235_5122-234delinsGC	ENSP00000445278.2:n.5122-235_5122-234delinsGC
ENST00000558319.5:c.5122-235_5122-234delinsGC	ENSP00000453599.1:n.5122-235_5122-234delinsGC
ENST00000558790.5:n.559-235_559-234delinsGC
NM_001160227.1:c.5122-235_5122-234delinsGC	NP_001153699.1:n.5122-235_5122-234delinsGC
NM_025137.3:c.5122-235_5122-234delinsGC	NP_079413.3:n.5122-235_5122-234delinsGC
XM_005254695.3:c.4864-235_4864-234delinsGC	XP_005254752.1:n.4864-235_4864-234delinsGC
XM_006720700.1:c.5122-379_5122-378delinsGC	XP_006720763.1:n.5122-379_5122-378delinsGC
XM_017022634.1:c.5122-235_5122-234delinsGC	XP_016878123.1:n.5122-235_5122-234delinsGC
XM_017022636.1:c.1999-235_1999-234delinsGC	XP_016878125.1:n.1999-235_1999-234delinsGC
XR_931917.2:n.5176-235_5176-234delinsGC
NM_025137.4:c.5122-235_5122-234delinsGC MANE Select	NP_079413.3:n.5122-235_5122-234delinsGC
NM_001160227.2:c.5122-235_5122-234delinsGC	NP_001153699.1:n.5122-235_5122-234delinsGC