Canonical Allele Identifier: CA1059481071

Gene: RAB28

Linked Data

• dbSNP Id: rs1728943847
• gnomAD v3: 4-13376861-A-ATT
• gnomAD v4: 4-13376861-A-ATT

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.13376861_13376862insTT , CM000666.2:g.13376861_13376862insTT	GRCh38
NC_000004.11:g.13378485_13378486insTT , CM000666.1:g.13378485_13378486insTT	GRCh37
NC_000004.10:g.12987583_12987584insTT	NCBI36
NG_033891.1:g.112504_112505insAA

Transcript Alleles

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