Canonical Allele Identifier: CA1206550534
Gene: GORAB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.170539422_170539423delinsAC , CM000663.2:g.170539422_170539423delinsAC GRCh38
NC_000001.10:g.170508563_170508564delinsAC , CM000663.1:g.170508563_170508564delinsAC GRCh37
NC_000001.9:g.168775187_168775188delinsAC NCBI36
NG_012237.1:g.12301_12302delinsAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000684929.1:n.243_244delinsAC
ENST00000685515.1:c.*138_*139delinsAC ENSP00000509073.1:n.*138_*139delinsAC
ENST00000685976.1:n.379_380delinsAC
ENST00000686135.1:n.1734_1735delinsAC
ENST00000686870.1:c.274_275delinsAC ENSP00000510121.1:p.Thr92=
ENST00000687370.1:n.3290_3291delinsAC
ENST00000687880.1:c.*268_*269delinsAC ENSP00000508486.1:n.*268_*269delinsAC
ENST00000688499.1:c.*138_*139delinsAC ENSP00000509581.1:n.*138_*139delinsAC
ENST00000688688.1:c.223_224delinsAC ENSP00000510426.1:p.Thr75=
ENST00000689173.1:c.*268_*269delinsAC ENSP00000509341.1:n.*268_*269delinsAC
ENST00000690124.1:n.438_439delinsAC
ENST00000690898.1:n.463_464delinsAC
ENST00000691199.1:n.191-3069_191-3068delinsAC
ENST00000691235.1:n.139-3069_139-3068delinsAC
ENST00000691574.1:n.308_309delinsAC
ENST00000692234.1:c.*138_*139delinsAC ENSP00000508508.1:n.*138_*139delinsAC
ENST00000692855.1:n.425_426delinsAC
ENST00000692875.1:c.223_224delinsAC ENSP00000508785.1:p.Thr75=
ENST00000693173.1:c.*268_*269delinsAC ENSP00000510143.1:n.*268_*269delinsAC
ENST00000693373.1:n.262_263delinsAC
ENST00000367762.2:c.274_275delinsAC ENSP00000356736.2:p.Thr92=
ENST00000367763.8:c.274_275delinsAC MANE Select ENSP00000356737.4:p.Thr92=
ENST00000498166.6:c.*268_*269delinsAC ENSP00000473336.2:n.*268_*269delinsAC
ENST00000367762.1:c.349_350delinsAC ENSP00000356736.1:p.Thr117=
ENST00000367763.7:c.349_350delinsAC ENSP00000356737.3:p.Thr117=
ENST00000465717.1:n.360_361delinsAC
ENST00000498166.5:c.647_648delinsAC
ENST00000498600.2:n.361_362delinsAC
NM_001146039.1:c.349_350delinsAC NP_001139511.1:p.Thr117=
NM_152281.2:c.349_350delinsAC NP_689494.2:p.Thr117=
NR_027397.1:n.376_377delinsAC
XM_006711628.2:c.-196_-195delinsAC XP_006711691.1:n.-196_-195delinsAC
XM_006711629.2:c.-192_-191delinsAC XP_006711692.1:n.-192_-191delinsAC
XM_011510149.1:c.298_299delinsAC XP_011508451.1:p.Thr100=
XM_011510150.1:c.-196_-195delinsAC XP_011508452.1:n.-196_-195delinsAC
XM_011510151.1:c.-196_-195delinsAC XP_011508453.1:n.-196_-195delinsAC
NM_001320252.1:c.-192_-191delinsAC NP_001307181.1:n.-192_-191delinsAC
XM_006711628.4:c.-196_-195delinsAC XP_006711691.1:n.-196_-195delinsAC
XM_011510149.2:c.298_299delinsAC XP_011508451.1:p.Thr100=
XM_011510150.3:c.-196_-195delinsAC XP_011508452.1:n.-196_-195delinsAC
XM_017002807.1:c.-196_-195delinsAC XP_016858296.1:n.-196_-195delinsAC
XM_024450864.1:c.-192_-191delinsAC XP_024306632.1:n.-192_-191delinsAC
NM_001146039.2:c.274_275delinsAC NP_001139511.2:p.Thr92=
NM_001320252.2:c.-192_-191delinsAC NP_001307181.1:n.-192_-191delinsAC
NM_152281.3:c.274_275delinsAC MANE Select NP_689494.3:p.Thr92=
NR_027397.2:n.332_333delinsAC