Canonical Allele Identifier: CA915946006

Gene: SPG11

Linked Data

• ClinVar Variation Id: 804472
• ClinVar RCV Id: RCV000991453 ; RCV003495219
• dbSNP Id: rs779268551

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44584486del , CM000677.2:g.44584486del	GRCh38
NC_000015.9:g.44876684del , CM000677.1:g.44876684del	GRCh37
NC_000015.8:g.42663976del	NCBI36
NG_008885.1:g.84198del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5199del	ENSP00000453246.2:p.Lys1733AsnfsTer?
ENST00000561391.2:n.1427del
ENST00000682065.1:c.5122-67del	ENSP00000507025.1:n.5122-67del
ENST00000682460.1:c.*1456del	ENSP00000508334.1:n.*1456del
ENST00000682495.1:c.*1691del	ENSP00000507166.1:n.*1691del
ENST00000682669.1:c.4998del	ENSP00000507782.1:p.Lys1666AsnfsTer?
ENST00000683186.1:c.*1962del	ENSP00000507268.1:n.*1962del
ENST00000683496.1:c.5199del	ENSP00000506968.1:p.Lys1733AsnfsTer?
ENST00000683734.1:c.5199del	ENSP00000508319.1:p.Lys1733AsnfsTer?
ENST00000683753.1:n.4245del
ENST00000684038.1:c.*1619del	ENSP00000507141.1:n.*1619del
ENST00000684235.1:c.5199del	ENSP00000508295.1:p.Lys1733AsnfsTer?
ENST00000684676.1:c.5199del	ENSP00000506948.1:p.Lys1733AsnfsTer?
ENST00000261866.12:c.5199del MANE Select	ENSP00000261866.7:p.Lys1733AsnfsTer?
ENST00000261866.11:c.5199del	ENSP00000261866.7:p.Lys1733AsnfsTer?
ENST00000427534.6:c.5199del	ENSP00000396110.2:p.Lys1733AsnfsTer?
ENST00000535302.6:c.5199del	ENSP00000445278.2:p.Lys1733AsnfsTer?
ENST00000558319.5:c.5199del	ENSP00000453599.1:p.Lys1733AsnfsTer?
ENST00000558790.5:n.636del
ENST00000559511.5:c.47del
NM_001160227.1:c.5199del	NP_001153699.1:p.Lys1733AsnfsTer?
NM_025137.3:c.5199del	NP_079413.3:p.Lys1733AsnfsTer?
XM_005254695.3:c.4941del	XP_005254752.1:p.Lys1647AsnfsTer?
XM_006720700.1:c.5122-67del	XP_006720763.1:n.5122-67del
XM_017022634.1:c.5199del	XP_016878123.1:p.Lys1733AsnfsTer?
XM_017022636.1:c.2076del	XP_016878125.1:p.Lys692AsnfsTer?
XR_931917.2:n.5253del
NM_025137.4:c.5199del MANE Select	NP_079413.3:p.Lys1733AsnfsTer?
NM_001160227.2:c.5199del	NP_001153699.1:p.Lys1733AsnfsTer?