Canonical Allele Identifier: CA2830536403
Gene: RAB28 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.13376808_13376810del , CM000666.2:g.13376808_13376810del GRCh38
NC_000004.11:g.13378432_13378434del , CM000666.1:g.13378432_13378434del GRCh37
NC_000004.10:g.12987530_12987532del NCBI36
NG_033891.1:g.112556_112558del

Transcript Alleles

HGVS Amino-acid Change
ENST00000288723.9:c.496-188_496-186del MANE Plus Clinical ENSP00000288723.4:n.496-188_496-186del
ENST00000330852.10:c.496-188_496-186del MANE Select ENSP00000328551.5:n.496-188_496-186del
ENST00000288723.8:c.496-188_496-186del ENSP00000288723.4:n.496-188_496-186del
ENST00000330852.9:c.496-188_496-186del ENSP00000328551.5:n.496-188_496-186del
ENST00000338176.8:c.496-188_496-186del ENSP00000340079.4:n.496-188_496-186del
ENST00000504644.1:c.105-188_105-186del
ENST00000508274.5:c.*78-188_*78-186del ENSP00000424043.1:n.*78-188_*78-186del
ENST00000511649.5:c.263-188_263-186del
ENST00000630951.1:c.*78-188_*78-186del ENSP00000485808.1:n.*78-188_*78-186del
NM_001017979.2:c.496-188_496-186del NP_001017979.1:n.496-188_496-186del
NM_001159601.1:c.496-188_496-186del NP_001153073.1:n.496-188_496-186del
NM_004249.3:c.496-188_496-186del NP_004240.2:n.496-188_496-186del
XM_005248215.3:c.496-188_496-186del XP_005248272.1:n.496-188_496-186del
XM_011513911.1:c.496-188_496-186del XP_011512213.1:n.496-188_496-186del
XM_011513912.1:c.265-188_265-186del XP_011512214.1:n.265-188_265-186del
XR_925360.1:n.711-188_711-186del
XR_925361.1:n.711-188_711-186del
NM_001017979.3:c.496-188_496-186del MANE Select NP_001017979.1:n.496-188_496-186del
NM_004249.4:c.496-188_496-186del MANE Plus Clinical NP_004240.2:n.496-188_496-186del
NM_001159601.2:c.496-188_496-186del NP_001153073.1:n.496-188_496-186del