Canonical Allele Identifier: CA2173685873
Gene: SPG11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.44584210_44584211delinsGA , CM000677.2:g.44584210_44584211delinsGA GRCh38
NC_000015.9:g.44876408_44876409delinsGA , CM000677.1:g.44876408_44876409delinsGA GRCh37
NC_000015.8:g.42663700_42663701delinsGA NCBI36
NG_008885.1:g.84468_84469delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000559511.6:c.5469_5470delinsTC ENSP00000453246.2:p.Ser1823=
ENST00000561391.2:n.1697_1698delinsTC
ENST00000682065.1:c.5325_5326delinsTC ENSP00000507025.1:p.Ser1775=
ENST00000682460.1:c.*1726_*1727delinsTC ENSP00000508334.1:n.*1726_*1727delinsTC
ENST00000682495.1:c.*1961_*1962delinsTC ENSP00000507166.1:n.*1961_*1962delinsTC
ENST00000682669.1:c.5268_5269delinsTC ENSP00000507782.1:p.Ser1756=
ENST00000683186.1:c.*2232_*2233delinsTC ENSP00000507268.1:n.*2232_*2233delinsTC
ENST00000683496.1:c.5469_5470delinsTC ENSP00000506968.1:p.Ser1823=
ENST00000683734.1:c.5469_5470delinsTC ENSP00000508319.1:p.Ser1823=
ENST00000683753.1:n.4515_4516delinsTC
ENST00000684038.1:c.*1889_*1890delinsTC ENSP00000507141.1:n.*1889_*1890delinsTC
ENST00000684235.1:c.5469_5470delinsTC ENSP00000508295.1:p.Ser1823=
ENST00000684676.1:c.5469_5470delinsTC ENSP00000506948.1:p.Ser1823=
ENST00000261866.12:c.5469_5470delinsTC MANE Select ENSP00000261866.7:p.Ser1823=
ENST00000261866.11:c.5469_5470delinsTC ENSP00000261866.7:p.Ser1823=
ENST00000427534.6:c.5469_5470delinsTC ENSP00000396110.2:p.Ser1823=
ENST00000535302.6:c.5469_5470delinsTC ENSP00000445278.2:p.Ser1823=
ENST00000558319.5:c.5469_5470delinsTC ENSP00000453599.1:p.Ser1823=
ENST00000559511.5:c.317_318delinsTC
ENST00000559822.1:c.241_242delinsTC
NM_001160227.1:c.5469_5470delinsTC NP_001153699.1:p.Ser1823=
NM_025137.3:c.5469_5470delinsTC NP_079413.3:p.Ser1823=
XM_005254695.3:c.5211_5212delinsTC XP_005254752.1:p.Ser1737=
XM_006720700.1:c.5325_5326delinsTC XP_006720763.1:p.Ser1775=
XM_017022634.1:c.5469_5470delinsTC XP_016878123.1:p.Ser1823=
XM_017022636.1:c.2346_2347delinsTC XP_016878125.1:p.Ser782=
NM_025137.4:c.5469_5470delinsTC MANE Select NP_079413.3:p.Ser1823=
NM_001160227.2:c.5469_5470delinsTC NP_001153699.1:p.Ser1823=