Canonical Allele Identifier: CA2173685258

Gene: SPG11

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44570516_44570519delinsGCTA , CM000677.2:g.44570516_44570519delinsGCTA	GRCh38
NC_000015.9:g.44862714_44862717delinsGCTA , CM000677.1:g.44862714_44862717delinsGCTA	GRCh37
NC_000015.8:g.42650006_42650009delinsGCTA	NCBI36
NG_008885.1:g.98160_98163delinsTAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558138.2:c.276+6_276+9delinsTAGC	ENSP00000453314.2:n.276+6_276+9delinsTAGC
ENST00000559511.6:c.6000+6_6000+9delinsTAGC	ENSP00000453246.2:n.6000+6_6000+9delinsTAGC
ENST00000682065.1:c.6333+6_6333+9delinsTAGC	ENSP00000507025.1:n.6333+6_6333+9delinsTAGC
ENST00000682460.1:c.*2734+6_*2734+9delinsTAGC	ENSP00000508334.1:n.*2734+6_*2734+9delinsTAGC
ENST00000682495.1:c.*2969+6_*2969+9delinsTAGC	ENSP00000507166.1:n.*2969+6_*2969+9delinsTAGC
ENST00000682669.1:c.6276+6_6276+9delinsTAGC	ENSP00000507782.1:n.6276+6_6276+9delinsTAGC
ENST00000683186.1:c.*3240+6_*3240+9delinsTAGC	ENSP00000507268.1:n.*3240+6_*3240+9delinsTAGC
ENST00000683496.1:c.*119+6_*119+9delinsTAGC	ENSP00000506968.1:n.*119+6_*119+9delinsTAGC
ENST00000683734.1:c.*427+6_*427+9delinsTAGC	ENSP00000508319.1:n.*427+6_*427+9delinsTAGC
ENST00000683753.1:n.5523+6_5523+9delinsTAGC
ENST00000684038.1:c.*2897+6_*2897+9delinsTAGC	ENSP00000507141.1:n.*2897+6_*2897+9delinsTAGC
ENST00000684235.1:c.6477+6_6477+9delinsTAGC	ENSP00000508295.1:n.6477+6_6477+9delinsTAGC
ENST00000261866.12:c.6477+6_6477+9delinsTAGC MANE Select	ENSP00000261866.7:n.6477+6_6477+9delinsTAGC
ENST00000261866.11:c.6477+6_6477+9delinsTAGC	ENSP00000261866.7:n.6477+6_6477+9delinsTAGC
ENST00000427534.6:c.6477+6_6477+9delinsTAGC	ENSP00000396110.2:n.6477+6_6477+9delinsTAGC
ENST00000535302.6:c.6138+6_6138+9delinsTAGC	ENSP00000445278.2:n.6138+6_6138+9delinsTAGC
ENST00000558138.1:c.276+6_276+9delinsTAGC	ENSP00000453314.1:n.276+6_276+9delinsTAGC
ENST00000559347.1:n.306+6_306+9delinsTAGC
ENST00000559511.5:c.848+6_848+9delinsTAGC
ENST00000561268.5:n.275+2164_275+2167delinsTAGC
NM_001160227.1:c.6138+6_6138+9delinsTAGC	NP_001153699.1:n.6138+6_6138+9delinsTAGC
NM_025137.3:c.6477+6_6477+9delinsTAGC	NP_079413.3:n.6477+6_6477+9delinsTAGC
XM_005254695.3:c.6219+6_6219+9delinsTAGC	XP_005254752.1:n.6219+6_6219+9delinsTAGC
XM_006720700.1:c.6333+6_6333+9delinsTAGC	XP_006720763.1:n.6333+6_6333+9delinsTAGC
XM_017022634.1:c.6477+6_6477+9delinsTAGC	XP_016878123.1:n.6477+6_6477+9delinsTAGC
XM_017022636.1:c.3354+6_3354+9delinsTAGC	XP_016878125.1:n.3354+6_3354+9delinsTAGC
NM_025137.4:c.6477+6_6477+9delinsTAGC MANE Select	NP_079413.3:n.6477+6_6477+9delinsTAGC
NM_001160227.2:c.6138+6_6138+9delinsTAGC	NP_001153699.1:n.6138+6_6138+9delinsTAGC