Canonical Allele Identifier: CA2760482972
Gene: RAB28 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.13376742_13376743del , CM000666.2:g.13376742_13376743del GRCh38
NC_000004.11:g.13378366_13378367del , CM000666.1:g.13378366_13378367del GRCh37
NC_000004.10:g.12987464_12987465del NCBI36
NG_033891.1:g.112624_112625del

Transcript Alleles

HGVS Amino-acid Change
ENST00000288723.9:c.496-120_496-119del MANE Plus Clinical ENSP00000288723.4:n.496-120_496-119del
ENST00000330852.10:c.496-120_496-119del MANE Select ENSP00000328551.5:n.496-120_496-119del
ENST00000288723.8:c.496-120_496-119del ENSP00000288723.4:n.496-120_496-119del
ENST00000330852.9:c.496-120_496-119del ENSP00000328551.5:n.496-120_496-119del
ENST00000338176.8:c.496-120_496-119del ENSP00000340079.4:n.496-120_496-119del
ENST00000504644.1:c.105-120_105-119del
ENST00000508274.5:c.*78-120_*78-119del ENSP00000424043.1:n.*78-120_*78-119del
ENST00000511649.5:c.263-120_263-119del
ENST00000630951.1:c.*78-120_*78-119del ENSP00000485808.1:n.*78-120_*78-119del
NM_001017979.2:c.496-120_496-119del NP_001017979.1:n.496-120_496-119del
NM_001159601.1:c.496-120_496-119del NP_001153073.1:n.496-120_496-119del
NM_004249.3:c.496-120_496-119del NP_004240.2:n.496-120_496-119del
XM_005248215.3:c.496-120_496-119del XP_005248272.1:n.496-120_496-119del
XM_011513911.1:c.496-120_496-119del XP_011512213.1:n.496-120_496-119del
XM_011513912.1:c.265-120_265-119del XP_011512214.1:n.265-120_265-119del
XR_925360.1:n.711-120_711-119del
XR_925361.1:n.711-120_711-119del
NM_001017979.3:c.496-120_496-119del MANE Select NP_001017979.1:n.496-120_496-119del
NM_004249.4:c.496-120_496-119del MANE Plus Clinical NP_004240.2:n.496-120_496-119del
NM_001159601.2:c.496-120_496-119del NP_001153073.1:n.496-120_496-119del