Canonical Allele Identifier: CA713069380
Gene: SPG11 HGNC NCBI

Linked Data

dbSNP Id: rs1472093318

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.44584690_44584691insCACTCT , CM000677.2:g.44584690_44584691insCACTCT GRCh38
NC_000015.9:g.44876888_44876889insCACTCT , CM000677.1:g.44876888_44876889insCACTCT GRCh37
NC_000015.8:g.42664180_42664181insCACTCT NCBI36
NG_008885.1:g.83988_83989insAGAGTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000559511.6:c.5122-133_5122-132insAGAGTG ENSP00000453246.2:n.5122-133_5122-132insAGAGTG
ENST00000561391.2:n.1350-133_1350-132insAGAGTG
ENST00000682065.1:c.5122-277_5122-276insAGAGTG ENSP00000507025.1:n.5122-277_5122-276insAGAGTG
ENST00000682460.1:c.*1379-133_*1379-132insAGAGTG ENSP00000508334.1:n.*1379-133_*1379-132insAGAGTG
ENST00000682495.1:c.*1614-133_*1614-132insAGAGTG ENSP00000507166.1:n.*1614-133_*1614-132insAGAGTG
ENST00000682669.1:c.4921-133_4921-132insAGAGTG ENSP00000507782.1:n.4921-133_4921-132insAGAGTG
ENST00000683186.1:c.*1885-133_*1885-132insAGAGTG ENSP00000507268.1:n.*1885-133_*1885-132insAGAGTG
ENST00000683496.1:c.5122-133_5122-132insAGAGTG ENSP00000506968.1:n.5122-133_5122-132insAGAGTG
ENST00000683734.1:c.5122-133_5122-132insAGAGTG ENSP00000508319.1:n.5122-133_5122-132insAGAGTG
ENST00000683753.1:n.4168-133_4168-132insAGAGTG
ENST00000684038.1:c.*1542-133_*1542-132insAGAGTG ENSP00000507141.1:n.*1542-133_*1542-132insAGAGTG
ENST00000684235.1:c.5122-133_5122-132insAGAGTG ENSP00000508295.1:n.5122-133_5122-132insAGAGTG
ENST00000684676.1:c.5122-133_5122-132insAGAGTG ENSP00000506948.1:n.5122-133_5122-132insAGAGTG
ENST00000261866.12:c.5122-133_5122-132insAGAGTG MANE Select ENSP00000261866.7:n.5122-133_5122-132insAGAGTG
ENST00000261866.11:c.5122-133_5122-132insAGAGTG ENSP00000261866.7:n.5122-133_5122-132insAGAGTG
ENST00000427534.6:c.5122-133_5122-132insAGAGTG ENSP00000396110.2:n.5122-133_5122-132insAGAGTG
ENST00000535302.6:c.5122-133_5122-132insAGAGTG ENSP00000445278.2:n.5122-133_5122-132insAGAGTG
ENST00000558319.5:c.5122-133_5122-132insAGAGTG ENSP00000453599.1:n.5122-133_5122-132insAGAGTG
ENST00000558790.5:n.559-133_559-132insAGAGTG
NM_001160227.1:c.5122-133_5122-132insAGAGTG NP_001153699.1:n.5122-133_5122-132insAGAGTG
NM_025137.3:c.5122-133_5122-132insAGAGTG NP_079413.3:n.5122-133_5122-132insAGAGTG
XM_005254695.3:c.4864-133_4864-132insAGAGTG XP_005254752.1:n.4864-133_4864-132insAGAGTG
XM_006720700.1:c.5122-277_5122-276insAGAGTG XP_006720763.1:n.5122-277_5122-276insAGAGTG
XM_017022634.1:c.5122-133_5122-132insAGAGTG XP_016878123.1:n.5122-133_5122-132insAGAGTG
XM_017022636.1:c.1999-133_1999-132insAGAGTG XP_016878125.1:n.1999-133_1999-132insAGAGTG
XR_931917.2:n.5176-133_5176-132insAGAGTG
NM_025137.4:c.5122-133_5122-132insAGAGTG MANE Select NP_079413.3:n.5122-133_5122-132insAGAGTG
NM_001160227.2:c.5122-133_5122-132insAGAGTG NP_001153699.1:n.5122-133_5122-132insAGAGTG