Canonical Allele Identifier: CA344378
Gene: SPG11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.44659091_44659092delinsC , CM000677.2:g.44659091_44659092delinsC GRCh38
NC_000015.9:g.44951289_44951290delinsC , CM000677.1:g.44951289_44951290delinsC GRCh37
NC_000015.8:g.42738581_42738582delinsC NCBI36
NG_008885.1:g.9587_9588delinsG

Transcript Alleles

HGVS Amino-acid Change
ENST00000559511.6:c.654_655delinsG ENSP00000453246.2:p.Ser218ArgfsTer2
ENST00000682065.1:c.654_655delinsG ENSP00000507025.1:p.Ser218ArgfsTer2
ENST00000682410.1:n.683_684delinsG
ENST00000682460.1:c.654_655delinsG ENSP00000508334.1:p.Ser218ArgfsTer2
ENST00000682495.1:c.654_655delinsG ENSP00000507166.1:p.Ser218ArgfsTer2
ENST00000682648.1:n.599_600delinsG
ENST00000682669.1:c.654_655delinsG ENSP00000507782.1:p.Ser218ArgfsTer2
ENST00000682788.1:c.654_655delinsG ENSP00000508089.1:p.Ser218ArgfsTer2
ENST00000682877.1:n.685_686delinsG
ENST00000682915.1:c.654_655delinsG ENSP00000507493.1:p.Ser218ArgfsTer2
ENST00000683121.1:c.654_655delinsG ENSP00000507557.1:p.Ser218ArgfsTer2
ENST00000683186.1:c.654_655delinsG ENSP00000507268.1:p.Ser218ArgfsTer2
ENST00000683255.1:c.654_655delinsG ENSP00000508340.1:p.Ser218ArgfsTer2
ENST00000683496.1:c.654_655delinsG ENSP00000506968.1:p.Ser218ArgfsTer2
ENST00000683573.1:c.654_655delinsG ENSP00000508031.1:p.Ser218ArgfsTer2
ENST00000683734.1:c.654_655delinsG ENSP00000508319.1:p.Ser218ArgfsTer2
ENST00000684038.1:c.442+1340_442+1341delinsG ENSP00000507141.1:n.442+1340_442+1341delinsG
ENST00000684235.1:c.654_655delinsG ENSP00000508295.1:p.Ser218ArgfsTer2
ENST00000684490.1:n.669_670delinsG
ENST00000684676.1:c.654_655delinsG ENSP00000506948.1:p.Ser218ArgfsTer2
ENST00000261866.12:c.654_655delinsG MANE Select ENSP00000261866.7:p.Ser218ArgfsTer2
ENST00000261866.11:c.654_655delinsG ENSP00000261866.7:p.Ser218ArgfsTer2
ENST00000427534.6:c.654_655delinsG ENSP00000396110.2:p.Ser218ArgfsTer2
ENST00000535302.6:c.654_655delinsG ENSP00000445278.2:p.Ser218ArgfsTer2
ENST00000558319.5:c.654_655delinsG ENSP00000453599.1:p.Ser218ArgfsTer2
ENST00000559193.5:c.654_655delinsG ENSP00000453848.1:p.Ser218ArgfsTer2
NM_001160227.1:c.654_655delinsG NP_001153699.1:p.Ser218ArgfsTer2
NM_025137.3:c.654_655delinsG NP_079413.3:p.Ser218ArgfsTer2
XM_005254695.3:c.442+1340_442+1341delinsG XP_005254752.1:n.442+1340_442+1341delinsG
XM_006720700.1:c.654_655delinsG XP_006720763.1:p.Ser218ArgfsTer2
XM_006720701.2:c.654_655delinsG XP_006720764.1:p.Ser218ArgfsTer2
XM_011522093.1:c.654_655delinsG XP_011520395.1:p.Ser218ArgfsTer2
XR_931917.1:n.685_686delinsG
XM_006720701.3:c.654_655delinsG XP_006720764.1:p.Ser218ArgfsTer2
XM_017022634.1:c.654_655delinsG XP_016878123.1:p.Ser218ArgfsTer2
XM_017022635.2:c.654_655delinsG XP_016878124.1:p.Ser218ArgfsTer2
XR_001751402.1:n.685_686delinsG
XR_931917.2:n.685_686delinsG
NM_025137.4:c.654_655delinsG MANE Select NP_079413.3:p.Ser218ArgfsTer2
NM_001160227.2:c.654_655delinsG NP_001153699.1:p.Ser218ArgfsTer2