Canonical Allele Identifier: CA2173685135

Gene: SPG11

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44570430_44570436delinsCCTACGA , CM000677.2:g.44570430_44570436delinsCCTACGA	GRCh38
NC_000015.9:g.44862628_44862634delinsCCTACGA , CM000677.1:g.44862628_44862634delinsCCTACGA	GRCh37
NC_000015.8:g.42649920_42649926delinsCCTACGA	NCBI36
NG_008885.1:g.98243_98249delinsTCGTAGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000558138.2:c.276+89_276+95delinsTCGTAGG	ENSP00000453314.2:n.276+89_276+95delinsTCGTAGG
ENST00000559511.6:c.6000+89_6000+95delinsTCGTAGG	ENSP00000453246.2:n.6000+89_6000+95delinsTCGTAGG
ENST00000682065.1:c.6333+89_6333+95delinsTCGTAGG	ENSP00000507025.1:n.6333+89_6333+95delinsTCGTAGG
ENST00000682460.1:c.*2734+89_*2734+95delinsTCGTAGG	ENSP00000508334.1:n.*2734+89_*2734+95delinsTCGTAGG
ENST00000682495.1:c.*2969+89_*2969+95delinsTCGTAGG	ENSP00000507166.1:n.*2969+89_*2969+95delinsTCGTAGG
ENST00000682669.1:c.6276+89_6276+95delinsTCGTAGG	ENSP00000507782.1:n.6276+89_6276+95delinsTCGTAGG
ENST00000683186.1:c.*3240+89_*3240+95delinsTCGTAGG	ENSP00000507268.1:n.*3240+89_*3240+95delinsTCGTAGG
ENST00000683496.1:c.*119+89_*119+95delinsTCGTAGG	ENSP00000506968.1:n.*119+89_*119+95delinsTCGTAGG
ENST00000683734.1:c.*427+89_*427+95delinsTCGTAGG	ENSP00000508319.1:n.*427+89_*427+95delinsTCGTAGG
ENST00000683753.1:n.5523+89_5523+95delinsTCGTAGG
ENST00000684038.1:c.*2897+89_*2897+95delinsTCGTAGG	ENSP00000507141.1:n.*2897+89_*2897+95delinsTCGTAGG
ENST00000684235.1:c.6477+89_6477+95delinsTCGTAGG	ENSP00000508295.1:n.6477+89_6477+95delinsTCGTAGG
ENST00000261866.12:c.6477+89_6477+95delinsTCGTAGG MANE Select	ENSP00000261866.7:n.6477+89_6477+95delinsTCGTAGG
ENST00000261866.11:c.6477+89_6477+95delinsTCGTAGG	ENSP00000261866.7:n.6477+89_6477+95delinsTCGTAGG
ENST00000427534.6:c.6477+89_6477+95delinsTCGTAGG	ENSP00000396110.2:n.6477+89_6477+95delinsTCGTAGG
ENST00000535302.6:c.6138+89_6138+95delinsTCGTAGG	ENSP00000445278.2:n.6138+89_6138+95delinsTCGTAGG
ENST00000558138.1:c.276+89_276+95delinsTCGTAGG	ENSP00000453314.1:n.276+89_276+95delinsTCGTAGG
ENST00000559347.1:n.306+89_306+95delinsTCGTAGG
ENST00000559511.5:c.848+89_848+95delinsTCGTAGG
ENST00000561268.5:n.275+2247_275+2253delinsTCGTAGG
NM_001160227.1:c.6138+89_6138+95delinsTCGTAGG	NP_001153699.1:n.6138+89_6138+95delinsTCGTAGG
NM_025137.3:c.6477+89_6477+95delinsTCGTAGG	NP_079413.3:n.6477+89_6477+95delinsTCGTAGG
XM_005254695.3:c.6219+89_6219+95delinsTCGTAGG	XP_005254752.1:n.6219+89_6219+95delinsTCGTAGG
XM_006720700.1:c.6333+89_6333+95delinsTCGTAGG	XP_006720763.1:n.6333+89_6333+95delinsTCGTAGG
XM_017022634.1:c.6477+89_6477+95delinsTCGTAGG	XP_016878123.1:n.6477+89_6477+95delinsTCGTAGG
XM_017022636.1:c.3354+89_3354+95delinsTCGTAGG	XP_016878125.1:n.3354+89_3354+95delinsTCGTAGG
NM_025137.4:c.6477+89_6477+95delinsTCGTAGG MANE Select	NP_079413.3:n.6477+89_6477+95delinsTCGTAGG
NM_001160227.2:c.6138+89_6138+95delinsTCGTAGG	NP_001153699.1:n.6138+89_6138+95delinsTCGTAGG