Canonical Allele Identifier: CA2173685576

Gene: SPG11

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44570661G= , CM000677.2:g.44570661G=	GRCh38
NC_000015.9:g.44862859G= , CM000677.1:g.44862859G=	GRCh37
NC_000015.8:g.42650151G=	NCBI36
NG_008885.1:g.98018C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558138.2:c.143-3C=	ENSP00000453314.2:n.143-3C=
ENST00000559511.6:c.5867-3C=	ENSP00000453246.2:n.5867-3C=
ENST00000682065.1:c.6200-3C=	ENSP00000507025.1:n.6200-3C=
ENST00000682460.1:c.*2601-3C=	ENSP00000508334.1:n.*2601-3C=
ENST00000682495.1:c.*2836-3C=	ENSP00000507166.1:n.*2836-3C=
ENST00000682669.1:c.6143-3C=	ENSP00000507782.1:n.6143-3C=
ENST00000683186.1:c.*3107-3C=	ENSP00000507268.1:n.*3107-3C=
ENST00000683496.1:c.6007-9C=	ENSP00000506968.1:n.6007-9C=
ENST00000683734.1:c.*294-3C=	ENSP00000508319.1:n.*294-3C=
ENST00000683753.1:n.5390-3C=
ENST00000684038.1:c.*2764-3C=	ENSP00000507141.1:n.*2764-3C=
ENST00000684235.1:c.6344-3C=	ENSP00000508295.1:n.6344-3C=
ENST00000261866.12:c.6344-3C= MANE Select	ENSP00000261866.7:n.6344-3C=
ENST00000261866.11:c.6344-3C=	ENSP00000261866.7:n.6344-3C=
ENST00000427534.6:c.6344-3C=	ENSP00000396110.2:n.6344-3C=
ENST00000535302.6:c.6005-3C=	ENSP00000445278.2:n.6005-3C=
ENST00000558138.1:c.143-3C=	ENSP00000453314.1:n.143-3C=
ENST00000559347.1:n.173-3C=
ENST00000559511.5:c.715-3C=
ENST00000559933.1:n.413-3C=
ENST00000561268.5:n.275+2022C=
NM_001160227.1:c.6005-3C=	NP_001153699.1:n.6005-3C=
NM_025137.3:c.6344-3C=	NP_079413.3:n.6344-3C=
XM_005254695.3:c.6086-3C=	XP_005254752.1:n.6086-3C=
XM_006720700.1:c.6200-3C=	XP_006720763.1:n.6200-3C=
XM_017022634.1:c.6344-3C=	XP_016878123.1:n.6344-3C=
XM_017022636.1:c.3221-3C=	XP_016878125.1:n.3221-3C=
NM_025137.4:c.6344-3C= MANE Select	NP_079413.3:n.6344-3C=
NM_001160227.2:c.6005-3C=	NP_001153699.1:n.6005-3C=