Canonical Allele Identifier: CA2173686067

Gene: SPG11

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44584268_44584270delinsGCA , CM000677.2:g.44584268_44584270delinsGCA	GRCh38
NC_000015.9:g.44876466_44876468delinsGCA , CM000677.1:g.44876466_44876468delinsGCA	GRCh37
NC_000015.8:g.42663758_42663760delinsGCA	NCBI36
NG_008885.1:g.84409_84411delinsTGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5410_5412delinsTGC	ENSP00000453246.2:p.Cys1804=
ENST00000561391.2:n.1638_1640delinsTGC
ENST00000682065.1:c.5266_5268delinsTGC	ENSP00000507025.1:p.Cys1756=
ENST00000682460.1:c.*1667_*1669delinsTGC	ENSP00000508334.1:n.*1667_*1669delinsTGC
ENST00000682495.1:c.*1902_*1904delinsTGC	ENSP00000507166.1:n.*1902_*1904delinsTGC
ENST00000682669.1:c.5209_5211delinsTGC	ENSP00000507782.1:p.Cys1737=
ENST00000683186.1:c.*2173_*2175delinsTGC	ENSP00000507268.1:n.*2173_*2175delinsTGC
ENST00000683496.1:c.5410_5412delinsTGC	ENSP00000506968.1:p.Cys1804=
ENST00000683734.1:c.5410_5412delinsTGC	ENSP00000508319.1:p.Cys1804=
ENST00000683753.1:n.4456_4458delinsTGC
ENST00000684038.1:c.*1830_*1832delinsTGC	ENSP00000507141.1:n.*1830_*1832delinsTGC
ENST00000684235.1:c.5410_5412delinsTGC	ENSP00000508295.1:p.Cys1804=
ENST00000684676.1:c.5410_5412delinsTGC	ENSP00000506948.1:p.Cys1804=
ENST00000261866.12:c.5410_5412delinsTGC MANE Select	ENSP00000261866.7:p.Cys1804=
ENST00000261866.11:c.5410_5412delinsTGC	ENSP00000261866.7:p.Cys1804=
ENST00000427534.6:c.5410_5412delinsTGC	ENSP00000396110.2:p.Cys1804=
ENST00000535302.6:c.5410_5412delinsTGC	ENSP00000445278.2:p.Cys1804=
ENST00000558319.5:c.5410_5412delinsTGC	ENSP00000453599.1:p.Cys1804=
ENST00000558790.5:n.847_849delinsTGC
ENST00000559511.5:c.258_260delinsTGC
ENST00000559822.1:c.182_184delinsTGC
NM_001160227.1:c.5410_5412delinsTGC	NP_001153699.1:p.Cys1804=
NM_025137.3:c.5410_5412delinsTGC	NP_079413.3:p.Cys1804=
XM_005254695.3:c.5152_5154delinsTGC	XP_005254752.1:p.Cys1718=
XM_006720700.1:c.5266_5268delinsTGC	XP_006720763.1:p.Cys1756=
XM_017022634.1:c.5410_5412delinsTGC	XP_016878123.1:p.Cys1804=
XM_017022636.1:c.2287_2289delinsTGC	XP_016878125.1:p.Cys763=
XR_931917.2:n.5464_5466delinsTGC
NM_025137.4:c.5410_5412delinsTGC MANE Select	NP_079413.3:p.Cys1804=
NM_001160227.2:c.5410_5412delinsTGC	NP_001153699.1:p.Cys1804=