Canonical Allele Identifier: CA2173687088

Gene: SPG11

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44584692_44584693delinsCG , CM000677.2:g.44584692_44584693delinsCG	GRCh38
NC_000015.9:g.44876890_44876891delinsCG , CM000677.1:g.44876890_44876891delinsCG	GRCh37
NC_000015.8:g.42664182_42664183delinsCG	NCBI36
NG_008885.1:g.83986_83987delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5122-135_5122-134delinsCG	ENSP00000453246.2:n.5122-135_5122-134delinsCG
ENST00000561391.2:n.1350-135_1350-134delinsCG
ENST00000682065.1:c.5122-279_5122-278delinsCG	ENSP00000507025.1:n.5122-279_5122-278delinsCG
ENST00000682460.1:c.*1379-135_*1379-134delinsCG	ENSP00000508334.1:n.*1379-135_*1379-134delinsCG
ENST00000682495.1:c.*1614-135_*1614-134delinsCG	ENSP00000507166.1:n.*1614-135_*1614-134delinsCG
ENST00000682669.1:c.4921-135_4921-134delinsCG	ENSP00000507782.1:n.4921-135_4921-134delinsCG
ENST00000683186.1:c.*1885-135_*1885-134delinsCG	ENSP00000507268.1:n.*1885-135_*1885-134delinsCG
ENST00000683496.1:c.5122-135_5122-134delinsCG	ENSP00000506968.1:n.5122-135_5122-134delinsCG
ENST00000683734.1:c.5122-135_5122-134delinsCG	ENSP00000508319.1:n.5122-135_5122-134delinsCG
ENST00000683753.1:n.4168-135_4168-134delinsCG
ENST00000684038.1:c.*1542-135_*1542-134delinsCG	ENSP00000507141.1:n.*1542-135_*1542-134delinsCG
ENST00000684235.1:c.5122-135_5122-134delinsCG	ENSP00000508295.1:n.5122-135_5122-134delinsCG
ENST00000684676.1:c.5122-135_5122-134delinsCG	ENSP00000506948.1:n.5122-135_5122-134delinsCG
ENST00000261866.12:c.5122-135_5122-134delinsCG MANE Select	ENSP00000261866.7:n.5122-135_5122-134delinsCG
ENST00000261866.11:c.5122-135_5122-134delinsCG	ENSP00000261866.7:n.5122-135_5122-134delinsCG
ENST00000427534.6:c.5122-135_5122-134delinsCG	ENSP00000396110.2:n.5122-135_5122-134delinsCG
ENST00000535302.6:c.5122-135_5122-134delinsCG	ENSP00000445278.2:n.5122-135_5122-134delinsCG
ENST00000558319.5:c.5122-135_5122-134delinsCG	ENSP00000453599.1:n.5122-135_5122-134delinsCG
ENST00000558790.5:n.559-135_559-134delinsCG
NM_001160227.1:c.5122-135_5122-134delinsCG	NP_001153699.1:n.5122-135_5122-134delinsCG
NM_025137.3:c.5122-135_5122-134delinsCG	NP_079413.3:n.5122-135_5122-134delinsCG
XM_005254695.3:c.4864-135_4864-134delinsCG	XP_005254752.1:n.4864-135_4864-134delinsCG
XM_006720700.1:c.5122-279_5122-278delinsCG	XP_006720763.1:n.5122-279_5122-278delinsCG
XM_017022634.1:c.5122-135_5122-134delinsCG	XP_016878123.1:n.5122-135_5122-134delinsCG
XM_017022636.1:c.1999-135_1999-134delinsCG	XP_016878125.1:n.1999-135_1999-134delinsCG
XR_931917.2:n.5176-135_5176-134delinsCG
NM_025137.4:c.5122-135_5122-134delinsCG MANE Select	NP_079413.3:n.5122-135_5122-134delinsCG
NM_001160227.2:c.5122-135_5122-134delinsCG	NP_001153699.1:n.5122-135_5122-134delinsCG