Canonical Allele Identifier: CA2760482975

Gene: RAB28

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.13376745_13376747del , CM000666.2:g.13376745_13376747del	GRCh38
NC_000004.11:g.13378369_13378371del , CM000666.1:g.13378369_13378371del	GRCh37
NC_000004.10:g.12987467_12987469del	NCBI36
NG_033891.1:g.112619_112621del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288723.9:c.496-125_496-123del MANE Plus Clinical	ENSP00000288723.4:n.496-125_496-123del
ENST00000330852.10:c.496-125_496-123del MANE Select	ENSP00000328551.5:n.496-125_496-123del
ENST00000288723.8:c.496-125_496-123del	ENSP00000288723.4:n.496-125_496-123del
ENST00000330852.9:c.496-125_496-123del	ENSP00000328551.5:n.496-125_496-123del
ENST00000338176.8:c.496-125_496-123del	ENSP00000340079.4:n.496-125_496-123del
ENST00000504644.1:c.105-125_105-123del
ENST00000508274.5:c.*78-125_*78-123del	ENSP00000424043.1:n.*78-125_*78-123del
ENST00000511649.5:c.263-125_263-123del
ENST00000630951.1:c.*78-125_*78-123del	ENSP00000485808.1:n.*78-125_*78-123del
NM_001017979.2:c.496-125_496-123del	NP_001017979.1:n.496-125_496-123del
NM_001159601.1:c.496-125_496-123del	NP_001153073.1:n.496-125_496-123del
NM_004249.3:c.496-125_496-123del	NP_004240.2:n.496-125_496-123del
XM_005248215.3:c.496-125_496-123del	XP_005248272.1:n.496-125_496-123del
XM_011513911.1:c.496-125_496-123del	XP_011512213.1:n.496-125_496-123del
XM_011513912.1:c.265-125_265-123del	XP_011512214.1:n.265-125_265-123del
XR_925360.1:n.711-125_711-123del
XR_925361.1:n.711-125_711-123del
NM_001017979.3:c.496-125_496-123del MANE Select	NP_001017979.1:n.496-125_496-123del
NM_004249.4:c.496-125_496-123del MANE Plus Clinical	NP_004240.2:n.496-125_496-123del
NM_001159601.2:c.496-125_496-123del	NP_001153073.1:n.496-125_496-123del