Canonical Allele Identifier: CA1439616912

Gene: RAB28

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.13376860_13376862delinsAAC , CM000666.2:g.13376860_13376862delinsAAC	GRCh38
NC_000004.11:g.13378484_13378486delinsAAC , CM000666.1:g.13378484_13378486delinsAAC	GRCh37
NC_000004.10:g.12987582_12987584delinsAAC	NCBI36
NG_033891.1:g.112504_112506delinsGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288723.9:c.496-240_496-238delinsGTT MANE Plus Clinical	ENSP00000288723.4:n.496-240_496-238delinsGTT
ENST00000330852.10:c.496-240_496-238delinsGTT MANE Select	ENSP00000328551.5:n.496-240_496-238delinsGTT
ENST00000288723.8:c.496-240_496-238delinsGTT	ENSP00000288723.4:n.496-240_496-238delinsGTT
ENST00000330852.9:c.496-240_496-238delinsGTT	ENSP00000328551.5:n.496-240_496-238delinsGTT
ENST00000338176.8:c.496-240_496-238delinsGTT	ENSP00000340079.4:n.496-240_496-238delinsGTT
ENST00000504644.1:c.105-240_105-238delinsGTT
ENST00000508274.5:c.*78-240_*78-238delinsGTT	ENSP00000424043.1:n.*78-240_*78-238delinsGTT
ENST00000511649.5:c.263-240_263-238delinsGTT
ENST00000630951.1:c.*78-240_*78-238delinsGTT	ENSP00000485808.1:n.*78-240_*78-238delinsGTT
NM_001017979.2:c.496-240_496-238delinsGTT	NP_001017979.1:n.496-240_496-238delinsGTT
NM_001159601.1:c.496-240_496-238delinsGTT	NP_001153073.1:n.496-240_496-238delinsGTT
NM_004249.3:c.496-240_496-238delinsGTT	NP_004240.2:n.496-240_496-238delinsGTT
XM_005248215.3:c.496-240_496-238delinsGTT	XP_005248272.1:n.496-240_496-238delinsGTT
XM_011513911.1:c.496-240_496-238delinsGTT	XP_011512213.1:n.496-240_496-238delinsGTT
XM_011513912.1:c.265-240_265-238delinsGTT	XP_011512214.1:n.265-240_265-238delinsGTT
XR_925360.1:n.711-240_711-238delinsGTT
XR_925361.1:n.711-240_711-238delinsGTT
NM_001017979.3:c.496-240_496-238delinsGTT MANE Select	NP_001017979.1:n.496-240_496-238delinsGTT
NM_004249.4:c.496-240_496-238delinsGTT MANE Plus Clinical	NP_004240.2:n.496-240_496-238delinsGTT
NM_001159601.2:c.496-240_496-238delinsGTT	NP_001153073.1:n.496-240_496-238delinsGTT