Canonical Allele Identifier: CA787423459

Gene: RAB28

Linked Data

• dbSNP Id: rs1252705788
• gnomAD v3: 4-13376882-CATG-C
• gnomAD v4: 4-13376882-CATG-C
• MyVariant Identifiers: chr4:g.13378507_13378509del (hg19) ; chr4:g.13376883_13376885del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.13376888_13376890del , CM000666.2:g.13376888_13376890del	GRCh38
NC_000004.11:g.13378512_13378514del , CM000666.1:g.13378512_13378514del	GRCh37
NC_000004.10:g.12987610_12987612del	NCBI36
NG_033891.1:g.112481_112483del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288723.9:c.496-263_496-261del MANE Plus Clinical	ENSP00000288723.4:n.496-263_496-261del
ENST00000330852.10:c.496-263_496-261del MANE Select	ENSP00000328551.5:n.496-263_496-261del
ENST00000288723.8:c.496-263_496-261del	ENSP00000288723.4:n.496-263_496-261del
ENST00000330852.9:c.496-263_496-261del	ENSP00000328551.5:n.496-263_496-261del
ENST00000338176.8:c.496-263_496-261del	ENSP00000340079.4:n.496-263_496-261del
ENST00000504644.1:c.105-263_105-261del
ENST00000508274.5:c.*78-263_*78-261del	ENSP00000424043.1:n.*78-263_*78-261del
ENST00000511649.5:c.263-263_263-261del
ENST00000630951.1:c.*78-263_*78-261del	ENSP00000485808.1:n.*78-263_*78-261del
NM_001017979.2:c.496-263_496-261del	NP_001017979.1:n.496-263_496-261del
NM_001159601.1:c.496-263_496-261del	NP_001153073.1:n.496-263_496-261del
NM_004249.3:c.496-263_496-261del	NP_004240.2:n.496-263_496-261del
XM_005248215.3:c.496-263_496-261del	XP_005248272.1:n.496-263_496-261del
XM_011513911.1:c.496-263_496-261del	XP_011512213.1:n.496-263_496-261del
XM_011513912.1:c.265-263_265-261del	XP_011512214.1:n.265-263_265-261del
XR_925360.1:n.711-263_711-261del
XR_925361.1:n.711-263_711-261del
NM_001017979.3:c.496-263_496-261del MANE Select	NP_001017979.1:n.496-263_496-261del
NM_004249.4:c.496-263_496-261del MANE Plus Clinical	NP_004240.2:n.496-263_496-261del
NM_001159601.2:c.496-263_496-261del	NP_001153073.1:n.496-263_496-261del