Canonical Allele Identifier: CA2628200889

Gene: SPG11

Linked Data

• gnomAD v4: 15-44570474-ACT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44570478_44570479del , CM000677.2:g.44570478_44570479del	GRCh38
NC_000015.9:g.44862676_44862677del , CM000677.1:g.44862676_44862677del	GRCh37
NC_000015.8:g.42649968_42649969del	NCBI36
NG_008885.1:g.98203_98204del

Transcript Alleles

HGVS	Amino-acid change
ENST00000558138.2:c.276+49_276+50del	ENSP00000453314.2:n.276+49_276+50del
ENST00000559511.6:c.6000+49_6000+50del	ENSP00000453246.2:n.6000+49_6000+50del
ENST00000682065.1:c.6333+49_6333+50del	ENSP00000507025.1:n.6333+49_6333+50del
ENST00000682460.1:c.*2734+49_*2734+50del	ENSP00000508334.1:n.*2734+49_*2734+50del
ENST00000682495.1:c.*2969+49_*2969+50del	ENSP00000507166.1:n.*2969+49_*2969+50del
ENST00000682669.1:c.6276+49_6276+50del	ENSP00000507782.1:n.6276+49_6276+50del
ENST00000683186.1:c.*3240+49_*3240+50del	ENSP00000507268.1:n.*3240+49_*3240+50del
ENST00000683496.1:c.*119+49_*119+50del	ENSP00000506968.1:n.*119+49_*119+50del
ENST00000683734.1:c.*427+49_*427+50del	ENSP00000508319.1:n.*427+49_*427+50del
ENST00000683753.1:n.5523+49_5523+50del
ENST00000684038.1:c.*2897+49_*2897+50del	ENSP00000507141.1:n.*2897+49_*2897+50del
ENST00000684235.1:c.6477+49_6477+50del	ENSP00000508295.1:n.6477+49_6477+50del
ENST00000261866.12:c.6477+49_6477+50del MANE Select	ENSP00000261866.7:n.6477+49_6477+50del
ENST00000261866.11:c.6477+49_6477+50del	ENSP00000261866.7:n.6477+49_6477+50del
ENST00000427534.6:c.6477+49_6477+50del	ENSP00000396110.2:n.6477+49_6477+50del
ENST00000535302.6:c.6138+49_6138+50del	ENSP00000445278.2:n.6138+49_6138+50del
ENST00000558138.1:c.276+49_276+50del	ENSP00000453314.1:n.276+49_276+50del
ENST00000559347.1:n.306+49_306+50del
ENST00000559511.5:c.848+49_848+50del
ENST00000561268.5:n.275+2207_275+2208del
NM_001160227.1:c.6138+49_6138+50del	NP_001153699.1:n.6138+49_6138+50del
NM_025137.3:c.6477+49_6477+50del	NP_079413.3:n.6477+49_6477+50del
XM_005254695.3:c.6219+49_6219+50del	XP_005254752.1:n.6219+49_6219+50del
XM_006720700.1:c.6333+49_6333+50del	XP_006720763.1:n.6333+49_6333+50del
XM_017022634.1:c.6477+49_6477+50del	XP_016878123.1:n.6477+49_6477+50del
XM_017022636.1:c.3354+49_3354+50del	XP_016878125.1:n.3354+49_3354+50del
NM_025137.4:c.6477+49_6477+50del MANE Select	NP_079413.3:n.6477+49_6477+50del
NM_001160227.2:c.6138+49_6138+50del	NP_001153699.1:n.6138+49_6138+50del