Canonical Allele Identifier: CA2173685242

Gene: SPG11

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44570511_44570512delinsAG , CM000677.2:g.44570511_44570512delinsAG	GRCh38
NC_000015.9:g.44862709_44862710delinsAG , CM000677.1:g.44862709_44862710delinsAG	GRCh37
NC_000015.8:g.42650001_42650002delinsAG	NCBI36
NG_008885.1:g.98167_98168delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558138.2:c.276+13_276+14delinsCT	ENSP00000453314.2:n.276+13_276+14delinsCT
ENST00000559511.6:c.6000+13_6000+14delinsCT	ENSP00000453246.2:n.6000+13_6000+14delinsCT
ENST00000682065.1:c.6333+13_6333+14delinsCT	ENSP00000507025.1:n.6333+13_6333+14delinsCT
ENST00000682460.1:c.*2734+13_*2734+14delinsCT	ENSP00000508334.1:n.*2734+13_*2734+14delinsCT
ENST00000682495.1:c.*2969+13_*2969+14delinsCT	ENSP00000507166.1:n.*2969+13_*2969+14delinsCT
ENST00000682669.1:c.6276+13_6276+14delinsCT	ENSP00000507782.1:n.6276+13_6276+14delinsCT
ENST00000683186.1:c.*3240+13_*3240+14delinsCT	ENSP00000507268.1:n.*3240+13_*3240+14delinsCT
ENST00000683496.1:c.*119+13_*119+14delinsCT	ENSP00000506968.1:n.*119+13_*119+14delinsCT
ENST00000683734.1:c.*427+13_*427+14delinsCT	ENSP00000508319.1:n.*427+13_*427+14delinsCT
ENST00000683753.1:n.5523+13_5523+14delinsCT
ENST00000684038.1:c.*2897+13_*2897+14delinsCT	ENSP00000507141.1:n.*2897+13_*2897+14delinsCT
ENST00000684235.1:c.6477+13_6477+14delinsCT	ENSP00000508295.1:n.6477+13_6477+14delinsCT
ENST00000261866.12:c.6477+13_6477+14delinsCT MANE Select	ENSP00000261866.7:n.6477+13_6477+14delinsCT
ENST00000261866.11:c.6477+13_6477+14delinsCT	ENSP00000261866.7:n.6477+13_6477+14delinsCT
ENST00000427534.6:c.6477+13_6477+14delinsCT	ENSP00000396110.2:n.6477+13_6477+14delinsCT
ENST00000535302.6:c.6138+13_6138+14delinsCT	ENSP00000445278.2:n.6138+13_6138+14delinsCT
ENST00000558138.1:c.276+13_276+14delinsCT	ENSP00000453314.1:n.276+13_276+14delinsCT
ENST00000559347.1:n.306+13_306+14delinsCT
ENST00000559511.5:c.848+13_848+14delinsCT
ENST00000561268.5:n.275+2171_275+2172delinsCT
NM_001160227.1:c.6138+13_6138+14delinsCT	NP_001153699.1:n.6138+13_6138+14delinsCT
NM_025137.3:c.6477+13_6477+14delinsCT	NP_079413.3:n.6477+13_6477+14delinsCT
XM_005254695.3:c.6219+13_6219+14delinsCT	XP_005254752.1:n.6219+13_6219+14delinsCT
XM_006720700.1:c.6333+13_6333+14delinsCT	XP_006720763.1:n.6333+13_6333+14delinsCT
XM_017022634.1:c.6477+13_6477+14delinsCT	XP_016878123.1:n.6477+13_6477+14delinsCT
XM_017022636.1:c.3354+13_3354+14delinsCT	XP_016878125.1:n.3354+13_3354+14delinsCT
NM_025137.4:c.6477+13_6477+14delinsCT MANE Select	NP_079413.3:n.6477+13_6477+14delinsCT
NM_001160227.2:c.6138+13_6138+14delinsCT	NP_001153699.1:n.6138+13_6138+14delinsCT