Canonical Allele Identifier: CA891011556
Gene: GORAB HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.170544742del , CM000663.2:g.170544742del GRCh38
NC_000001.10:g.170513883del , CM000663.1:g.170513883del GRCh37
NC_000001.9:g.168780507del NCBI36
NG_012237.1:g.17621del

Transcript Alleles

HGVS Amino-acid Change
ENST00000685515.1:c.*423del ENSP00000509073.1:n.*423del
ENST00000686021.1:n.674del
ENST00000686870.1:c.*77del ENSP00000510121.1:n.*77del
ENST00000687370.1:n.3575del
ENST00000687880.1:c.*557del ENSP00000508486.1:n.*557del
ENST00000688499.1:c.*427del ENSP00000509581.1:n.*427del
ENST00000688688.1:c.508del ENSP00000510426.1:p.Arg170GlyfsTer9
ENST00000689173.1:c.*557del ENSP00000509341.1:n.*557del
ENST00000690124.1:n.723del
ENST00000690898.1:n.752del
ENST00000691051.1:n.1298del
ENST00000691199.1:n.330del
ENST00000691235.1:n.278del
ENST00000692234.1:c.*423del ENSP00000508508.1:n.*423del
ENST00000692855.1:n.714del
ENST00000692875.1:c.*77del ENSP00000508785.1:n.*77del
ENST00000693173.1:c.*557del ENSP00000510143.1:n.*557del
ENST00000693373.1:n.551del
ENST00000367762.2:c.559del ENSP00000356736.2:p.Arg187GlyfsTer9
ENST00000367763.8:c.559del MANE Select ENSP00000356737.4:p.Arg187GlyfsTer9
ENST00000498166.6:c.*553del ENSP00000473336.2:n.*553del
ENST00000367762.1:c.634del ENSP00000356736.1:p.Arg212GlyfsTer9
ENST00000367763.7:c.634del ENSP00000356737.3:p.Arg212GlyfsTer9
ENST00000475113.1:n.103del
ENST00000498166.5:c.932del
ENST00000498600.2:n.650del
NM_001146039.1:c.634del NP_001139511.1:p.Arg212GlyfsTer9
NM_152281.2:c.634del NP_689494.2:p.Arg212GlyfsTer9
NR_027397.1:n.665del
XM_006711628.2:c.94del XP_006711691.1:p.Arg32GlyfsTer9
XM_006711629.2:c.94del XP_006711692.1:p.Arg32GlyfsTer9
XM_011510149.1:c.583del XP_011508451.1:p.Arg195GlyfsTer9
XM_011510150.1:c.94del XP_011508452.1:p.Arg32GlyfsTer9
XM_011510151.1:c.94del XP_011508453.1:p.Arg32GlyfsTer9
NM_001320252.1:c.94del NP_001307181.1:p.Arg32GlyfsTer9
XM_006711628.4:c.94del XP_006711691.1:p.Arg32GlyfsTer9
XM_011510149.2:c.583del XP_011508451.1:p.Arg195GlyfsTer9
XM_011510150.3:c.94del XP_011508452.1:p.Arg32GlyfsTer9
XM_017002807.1:c.94del XP_016858296.1:p.Arg32GlyfsTer9
XM_024450864.1:c.94del XP_024306632.1:p.Arg32GlyfsTer9
NM_001146039.2:c.559del NP_001139511.2:p.Arg187GlyfsTer9
NM_001320252.2:c.94del NP_001307181.1:p.Arg32GlyfsTer9
NM_152281.3:c.559del MANE Select NP_689494.3:p.Arg187GlyfsTer9
NR_027397.2:n.621del