Canonical Allele Identifier: CA2575708634

Gene: SPG11

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44598554del , CM000677.2:g.44598554del	GRCh38
NC_000015.9:g.44890752del , CM000677.1:g.44890752del	GRCh37
NC_000015.8:g.42678044del	NCBI36
NG_008885.1:g.70128del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.3892+80del	ENSP00000453246.2:n.3892+80del
ENST00000682065.1:c.3892+80del	ENSP00000507025.1:n.3892+80del
ENST00000682460.1:c.*312+80del	ENSP00000508334.1:n.*312+80del
ENST00000682495.1:c.*384+80del	ENSP00000507166.1:n.*384+80del
ENST00000682669.1:c.3691+80del	ENSP00000507782.1:n.3691+80del
ENST00000682788.1:c.3892+80del	ENSP00000508089.1:n.3892+80del
ENST00000683121.1:c.3892+80del	ENSP00000507557.1:n.3892+80del
ENST00000683186.1:c.*655+80del	ENSP00000507268.1:n.*655+80del
ENST00000683496.1:c.3892+80del	ENSP00000506968.1:n.3892+80del
ENST00000683734.1:c.3892+80del	ENSP00000508319.1:n.3892+80del
ENST00000683753.1:n.2938+80del
ENST00000683838.1:n.966+80del
ENST00000684038.1:c.*312+80del	ENSP00000507141.1:n.*312+80del
ENST00000684235.1:c.3892+80del	ENSP00000508295.1:n.3892+80del
ENST00000684676.1:c.3892+80del	ENSP00000506948.1:n.3892+80del
ENST00000261866.12:c.3892+80del MANE Select	ENSP00000261866.7:n.3892+80del
ENST00000261866.11:c.3892+80del	ENSP00000261866.7:n.3892+80del
ENST00000427534.6:c.3892+80del	ENSP00000396110.2:n.3892+80del
ENST00000535302.6:c.3892+80del	ENSP00000445278.2:n.3892+80del
ENST00000558093.1:n.506+80del
ENST00000558319.5:c.3892+80del	ENSP00000453599.1:n.3892+80del
ENST00000558561.1:n.129del
NM_001160227.1:c.3892+80del	NP_001153699.1:n.3892+80del
NM_025137.3:c.3892+80del	NP_079413.3:n.3892+80del
XM_005254695.3:c.3634+80del	XP_005254752.1:n.3634+80del
XM_006720700.1:c.3892+80del	XP_006720763.1:n.3892+80del
XM_006720701.2:c.3892+80del	XP_006720764.1:n.3892+80del
XM_011522093.1:c.3687-178del	XP_011520395.1:n.3687-178del
XR_931917.1:n.3923+80del
XM_006720701.3:c.3892+80del	XP_006720764.1:n.3892+80del
XM_017022634.1:c.3892+80del	XP_016878123.1:n.3892+80del
XM_017022635.2:c.3892+80del	XP_016878124.1:n.3892+80del
XM_017022636.1:c.769+80del	XP_016878125.1:n.769+80del
XR_001751402.1:n.3718-178del
XR_931917.2:n.3923+80del
NM_025137.4:c.3892+80del MANE Select	NP_079413.3:n.3892+80del
NM_001160227.2:c.3892+80del	NP_001153699.1:n.3892+80del