Canonical Allele Identifier: CA16619930
Gene: SPG11 HGNC NCBI

Linked Data

ClinVar Variation Id: 424590
ClinVar RCV Id: RCV000482085
dbSNP Id: rs1064797055
MyVariant Identifiers: chr15:g.44881579del (hg19) chr15:g.44589381del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.44589381del , CM000677.2:g.44589381del GRCh38
NC_000015.9:g.44881579del , CM000677.1:g.44881579del GRCh37
NC_000015.8:g.42668871del NCBI36
NG_008885.1:g.79298del

Transcript Alleles

HGVS Amino-acid change
ENST00000559511.6:c.4777del ENSP00000453246.2:p.Ile1593SerfsTer14
ENST00000561391.2:n.1005del
ENST00000682065.1:c.4777del ENSP00000507025.1:p.Ile1593SerfsTer14
ENST00000682460.1:c.*1163+2950del ENSP00000508334.1:n.*1163+2950del
ENST00000682495.1:c.*1269del ENSP00000507166.1:n.*1269del
ENST00000682669.1:c.4576del ENSP00000507782.1:p.Ile1526SerfsTer14
ENST00000682788.1:c.4777del ENSP00000508089.1:p.Ile1593SerfsTer14
ENST00000683121.1:c.*120del ENSP00000507557.1:n.*120del
ENST00000683186.1:c.*1540del ENSP00000507268.1:n.*1540del
ENST00000683496.1:c.4777del ENSP00000506968.1:p.Ile1593SerfsTer14
ENST00000683734.1:c.4777del ENSP00000508319.1:p.Ile1593SerfsTer14
ENST00000683753.1:n.3823del
ENST00000684038.1:c.*1197del ENSP00000507141.1:n.*1197del
ENST00000684235.1:c.4777del ENSP00000508295.1:p.Ile1593SerfsTer14
ENST00000684676.1:c.4777del ENSP00000506948.1:p.Ile1593SerfsTer14
ENST00000261866.12:c.4777del MANE Select ENSP00000261866.7:p.Ile1593SerfsTer14
ENST00000261866.11:c.4777del ENSP00000261866.7:p.Ile1593SerfsTer14
ENST00000427534.6:c.4777del ENSP00000396110.2:p.Ile1593SerfsTer14
ENST00000535302.6:c.4777del ENSP00000445278.2:p.Ile1593SerfsTer14
ENST00000558155.1:c.429del ENSP00000453238.1:n.429del
ENST00000558253.5:n.551del
ENST00000558319.5:c.4777del ENSP00000453599.1:p.Ile1593SerfsTer14
ENST00000558790.5:n.142del
ENST00000560858.1:c.157del ENSP00000452991.1:p.Ile53SerfsTer14
NM_001160227.1:c.4777del NP_001153699.1:p.Ile1593SerfsTer14
NM_025137.3:c.4777del NP_079413.3:p.Ile1593SerfsTer14
XM_005254695.3:c.4519del XP_005254752.1:p.Ile1507SerfsTer14
XM_006720700.1:c.4777del XP_006720763.1:p.Ile1593SerfsTer14
XM_006720701.2:c.4743+2950del XP_006720764.1:n.4743+2950del
XM_006720701.3:c.4743+2950del XP_006720764.1:n.4743+2950del
XM_017022634.1:c.4777del XP_016878123.1:p.Ile1593SerfsTer14
XM_017022636.1:c.1654del XP_016878125.1:p.Ile552SerfsTer14
XR_931917.2:n.4831del
NM_025137.4:c.4777del MANE Select NP_079413.3:p.Ile1593SerfsTer14
NM_001160227.2:c.4777del NP_001153699.1:p.Ile1593SerfsTer14
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