Canonical Allele Identifier: CA1059481053

Gene: RAB28

Linked Data

• dbSNP Id: rs1728941358
• gnomAD v3: 4-13376788-TATA-T
• gnomAD v4: 4-13376788-TATA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.13376794_13376796del , CM000666.2:g.13376794_13376796del	GRCh38
NC_000004.11:g.13378418_13378420del , CM000666.1:g.13378418_13378420del	GRCh37
NC_000004.10:g.12987516_12987518del	NCBI36
NG_033891.1:g.112575_112577del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288723.9:c.496-169_496-167del MANE Plus Clinical	ENSP00000288723.4:n.496-169_496-167del
ENST00000330852.10:c.496-169_496-167del MANE Select	ENSP00000328551.5:n.496-169_496-167del
ENST00000288723.8:c.496-169_496-167del	ENSP00000288723.4:n.496-169_496-167del
ENST00000330852.9:c.496-169_496-167del	ENSP00000328551.5:n.496-169_496-167del
ENST00000338176.8:c.496-169_496-167del	ENSP00000340079.4:n.496-169_496-167del
ENST00000504644.1:c.105-169_105-167del
ENST00000508274.5:c.*78-169_*78-167del	ENSP00000424043.1:n.*78-169_*78-167del
ENST00000511649.5:c.263-169_263-167del
ENST00000630951.1:c.*78-169_*78-167del	ENSP00000485808.1:n.*78-169_*78-167del
NM_001017979.2:c.496-169_496-167del	NP_001017979.1:n.496-169_496-167del
NM_001159601.1:c.496-169_496-167del	NP_001153073.1:n.496-169_496-167del
NM_004249.3:c.496-169_496-167del	NP_004240.2:n.496-169_496-167del
XM_005248215.3:c.496-169_496-167del	XP_005248272.1:n.496-169_496-167del
XM_011513911.1:c.496-169_496-167del	XP_011512213.1:n.496-169_496-167del
XM_011513912.1:c.265-169_265-167del	XP_011512214.1:n.265-169_265-167del
XR_925360.1:n.711-169_711-167del
XR_925361.1:n.711-169_711-167del
NM_001017979.3:c.496-169_496-167del MANE Select	NP_001017979.1:n.496-169_496-167del
NM_004249.4:c.496-169_496-167del MANE Plus Clinical	NP_004240.2:n.496-169_496-167del
NM_001159601.2:c.496-169_496-167del	NP_001153073.1:n.496-169_496-167del