Canonical Allele Identifier: CA344343
Gene: SPG11 HGNC NCBI

Linked Data

ClinVar Variation Id: 41314
ClinVar RCV Id: RCV000034215 RCV003387737
dbSNP Id: rs312262714
MyVariant Identifiers: chr15:g.44952644_44952664del (hg19) chr15:g.44660446_44660466del (hg38)
PubMed: PMID:19105190 PMID:20301389
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.44660448_44660468del , CM000677.2:g.44660448_44660468del GRCh38
NC_000015.9:g.44952646_44952666del , CM000677.1:g.44952646_44952666del GRCh37
NC_000015.8:g.42739938_42739958del NCBI36
NG_008885.1:g.8213_8233del

Transcript Alleles

HGVS Amino-acid change
ENST00000559511.6:c.408_428del ENSP00000453246.2:p.Glu136_Ile142del
ENST00000682065.1:c.408_428del ENSP00000507025.1:p.Glu136_Ile142del
ENST00000682410.1:n.437_457del
ENST00000682460.1:c.408_428del ENSP00000508334.1:p.Glu136_Ile142del
ENST00000682495.1:c.408_428del ENSP00000507166.1:p.Glu136_Ile142del
ENST00000682648.1:n.353_373del
ENST00000682669.1:c.408_428del ENSP00000507782.1:p.Glu136_Ile142del
ENST00000682788.1:c.408_428del ENSP00000508089.1:p.Glu136_Ile142del
ENST00000682877.1:n.439_459del
ENST00000682915.1:c.408_428del ENSP00000507493.1:p.Glu136_Ile142del
ENST00000683121.1:c.408_428del ENSP00000507557.1:p.Glu136_Ile142del
ENST00000683186.1:c.408_428del ENSP00000507268.1:p.Glu136_Ile142del
ENST00000683255.1:c.408_428del ENSP00000508340.1:p.Glu136_Ile142del
ENST00000683496.1:c.408_428del ENSP00000506968.1:p.Glu136_Ile142del
ENST00000683573.1:c.408_428del ENSP00000508031.1:p.Glu136_Ile142del
ENST00000683734.1:c.408_428del ENSP00000508319.1:p.Glu136_Ile142del
ENST00000684038.1:c.408_428del ENSP00000507141.1:p.Glu136_Ile142del
ENST00000684235.1:c.408_428del ENSP00000508295.1:p.Glu136_Ile142del
ENST00000684490.1:n.423_443del
ENST00000684676.1:c.408_428del ENSP00000506948.1:p.Glu136_Ile142del
ENST00000261866.12:c.408_428del MANE Select ENSP00000261866.7:p.Glu136_Ile142del
ENST00000261866.11:c.408_428del ENSP00000261866.7:p.Glu136_Ile142del
ENST00000427534.6:c.408_428del ENSP00000396110.2:p.Glu136_Ile142del
ENST00000535302.6:c.408_428del ENSP00000445278.2:p.Glu136_Ile142del
ENST00000558319.5:c.408_428del ENSP00000453599.1:p.Glu136_Ile142del
ENST00000559193.5:c.408_428del ENSP00000453848.1:p.Glu136_Ile142del
NM_001160227.1:c.408_428del NP_001153699.1:p.Glu136_Ile142del
NM_025137.3:c.408_428del NP_079413.3:p.Glu136_Ile142del
XM_005254695.3:c.408_428del XP_005254752.1:p.Glu136_Ile142del
XM_006720700.1:c.408_428del XP_006720763.1:p.Glu136_Ile142del
XM_006720701.2:c.408_428del XP_006720764.1:p.Glu136_Ile142del
XM_011522093.1:c.408_428del XP_011520395.1:p.Glu136_Ile142del
XR_931917.1:n.439_459del
XM_006720701.3:c.408_428del XP_006720764.1:p.Glu136_Ile142del
XM_017022634.1:c.408_428del XP_016878123.1:p.Glu136_Ile142del
XM_017022635.2:c.408_428del XP_016878124.1:p.Glu136_Ile142del
XR_001751402.1:n.439_459del
XR_931917.2:n.439_459del
NM_025137.4:c.408_428del MANE Select NP_079413.3:p.Glu136_Ile142del
NM_001160227.2:c.408_428del NP_001153699.1:p.Glu136_Ile142del
Search 100 bp 5'
Search 100 bp 3'