Canonical Allele Identifier: CA527131868
Community Standard Title: NM_152281.3(GORAB):c.276del (p.Ser93ProfsTer?)
Gene: GORAB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.170539424del , CM000663.2:g.170539424del GRCh38
NC_000001.10:g.170508565del , CM000663.1:g.170508565del GRCh37
NC_000001.9:g.168775189del NCBI36
NG_012237.1:g.12303del

Transcript Alleles

HGVS Amino-acid Change
NM_152281.3:c.276del MANE Select NP_689494.3:p.Ser93ProfsTer?
ENST00000367763.8:c.276del MANE Select ENSP00000356737.4:p.Ser93ProfsTer?
NM_001146039.1:c.351del NP_001139511.1:p.Ser118ProfsTer?
NM_001146039.2:c.276del NP_001139511.2:p.Ser93ProfsTer?
NM_001320252.1:c.-190del NP_001307181.1:n.-190del
NM_001320252.2:c.-190del NP_001307181.1:n.-190del
NM_152281.2:c.351del NP_689494.2:p.Ser118ProfsTer?
NR_027397.1:n.378del
NR_027397.2:n.334del
ENST00000367762.1:c.351del ENSP00000356736.1:p.Ser118ProfsTer?
ENST00000367762.2:c.276del ENSP00000356736.2:p.Ser93ProfsTer?
ENST00000367763.7:c.351del ENSP00000356737.3:p.Ser118ProfsTer?
ENST00000465717.1:n.362del
ENST00000498166.5:c.649del
ENST00000498166.6:c.*270del ENSP00000473336.2:n.*270del
ENST00000498600.2:n.363del
ENST00000684929.1:n.245del
ENST00000685515.1:c.*140del ENSP00000509073.1:n.*140del
ENST00000685976.1:n.381del
ENST00000686135.1:n.1736del
ENST00000686870.1:c.276del ENSP00000510121.1:p.Ser93ProfsTer?
ENST00000687370.1:n.3292del
ENST00000687880.1:c.*270del ENSP00000508486.1:n.*270del
ENST00000688499.1:c.*140del ENSP00000509581.1:n.*140del
ENST00000688688.1:c.225del ENSP00000510426.1:p.Ser76ProfsTer?
ENST00000689173.1:c.*270del ENSP00000509341.1:n.*270del
ENST00000690124.1:n.440del
ENST00000690898.1:n.465del
ENST00000691199.1:n.191-3067del
ENST00000691235.1:n.139-3067del
ENST00000691574.1:n.310del
ENST00000692234.1:c.*140del ENSP00000508508.1:n.*140del
ENST00000692855.1:n.427del
ENST00000692875.1:c.225del ENSP00000508785.1:p.Ser76ProfsTer?
ENST00000693173.1:c.*270del ENSP00000510143.1:n.*270del
ENST00000693373.1:n.264del
XM_006711628.2:c.-194del XP_006711691.1:n.-194del
XM_006711628.4:c.-194del XP_006711691.1:n.-194del
XM_006711629.2:c.-190del XP_006711692.1:n.-190del
XM_011510149.1:c.300del XP_011508451.1:p.Ser101ProfsTer?
XM_011510149.2:c.300del XP_011508451.1:p.Ser101ProfsTer?
XM_011510150.1:c.-194del XP_011508452.1:n.-194del
XM_011510150.3:c.-194del XP_011508452.1:n.-194del
XM_011510151.1:c.-194del XP_011508453.1:n.-194del
XM_017002807.1:c.-194del XP_016858296.1:n.-194del
XM_024450864.1:c.-190del XP_024306632.1:n.-190del