Canonical Allele Identifier: CA1439616914
Gene: RAB28 HGNC NCBI

Linked Data

dbSNP Id: rs1728943748

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.13376868_13376869del , CM000666.2:g.13376868_13376869del GRCh38
NC_000004.11:g.13378492_13378493del , CM000666.1:g.13378492_13378493del GRCh37
NC_000004.10:g.12987590_12987591del NCBI36
NG_033891.1:g.112504_112505del

Transcript Alleles

HGVS Amino-acid Change
ENST00000288723.9:c.496-240_496-239del MANE Plus Clinical ENSP00000288723.4:n.496-240_496-239del
ENST00000330852.10:c.496-240_496-239del MANE Select ENSP00000328551.5:n.496-240_496-239del
ENST00000288723.8:c.496-240_496-239del ENSP00000288723.4:n.496-240_496-239del
ENST00000330852.9:c.496-240_496-239del ENSP00000328551.5:n.496-240_496-239del
ENST00000338176.8:c.496-240_496-239del ENSP00000340079.4:n.496-240_496-239del
ENST00000504644.1:c.105-240_105-239del
ENST00000508274.5:c.*78-240_*78-239del ENSP00000424043.1:n.*78-240_*78-239del
ENST00000511649.5:c.263-240_263-239del
ENST00000630951.1:c.*78-240_*78-239del ENSP00000485808.1:n.*78-240_*78-239del
NM_001017979.2:c.496-240_496-239del NP_001017979.1:n.496-240_496-239del
NM_001159601.1:c.496-240_496-239del NP_001153073.1:n.496-240_496-239del
NM_004249.3:c.496-240_496-239del NP_004240.2:n.496-240_496-239del
XM_005248215.3:c.496-240_496-239del XP_005248272.1:n.496-240_496-239del
XM_011513911.1:c.496-240_496-239del XP_011512213.1:n.496-240_496-239del
XM_011513912.1:c.265-240_265-239del XP_011512214.1:n.265-240_265-239del
XR_925360.1:n.711-240_711-239del
XR_925361.1:n.711-240_711-239del
NM_001017979.3:c.496-240_496-239del MANE Select NP_001017979.1:n.496-240_496-239del
NM_004249.4:c.496-240_496-239del MANE Plus Clinical NP_004240.2:n.496-240_496-239del
NM_001159601.2:c.496-240_496-239del NP_001153073.1:n.496-240_496-239del