Canonical Allele Identifier: CA2635138801

Gene: VPS53

Linked Data

• gnomAD v4: 17-532814-C-CAA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.532816_532817dup , CM000679.2:g.532816_532817dup	GRCh38
NC_000017.10:g.436056_436057dup , CM000679.1:g.436056_436057dup	GRCh37
NC_000017.9:g.382806_382807dup	NCBI36
NG_034190.1:g.187041_187042dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291074.10:c.*11_*12dup	ENSP00000291074.5:n.*11_*12dup
ENST00000437048.7:c.2085+26_2085+27dup MANE Select	ENSP00000401435.2:n.2085+26_2085+27dup
ENST00000571805.6:c.*11_*12dup	ENSP00000459312.1:n.*11_*12dup
ENST00000679817.1:c.*11_*12dup	ENSP00000505032.1:n.*11_*12dup
ENST00000680128.1:c.*11_*12dup	ENSP00000506159.1:n.*11_*12dup
ENST00000680465.1:c.2085+26_2085+27dup	ENSP00000505997.1:n.2085+26_2085+27dup
ENST00000680641.1:c.*3334+26_*3334+27dup	ENSP00000505237.1:n.*3334+26_*3334+27dup
ENST00000680872.1:c.*1211+26_*1211+27dup	ENSP00000506605.1:n.*1211+26_*1211+27dup
ENST00000681050.1:c.298+26_298+27dup
ENST00000681096.1:c.*11_*12dup	ENSP00000506052.1:n.*11_*12dup
ENST00000681103.1:c.315+26_315+27dup	ENSP00000505892.1:n.315+26_315+27dup
ENST00000681160.1:c.1716+26_1716+27dup	ENSP00000504905.1:n.1716+26_1716+27dup
ENST00000681317.1:c.2015+4212_2015+4213dup	ENSP00000505190.1:n.2015+4212_2015+4213dup
ENST00000681478.1:c.*1931_*1932dup	ENSP00000505041.1:n.*1931_*1932dup
ENST00000681510.1:c.1935+26_1935+27dup	ENSP00000505594.1:n.1935+26_1935+27dup
ENST00000681600.1:n.1180+26_1180+27dup
ENST00000681661.1:c.*1066+26_*1066+27dup	ENSP00000506596.1:n.*1066+26_*1066+27dup
ENST00000681858.1:c.315+26_315+27dup	ENSP00000505044.1:n.315+26_315+27dup
ENST00000681917.1:c.1554+26_1554+27dup	ENSP00000505944.1:n.1554+26_1554+27dup
ENST00000681943.1:c.1803+26_1803+27dup	ENSP00000504889.1:n.1803+26_1803+27dup
ENST00000681946.1:c.*1066+26_*1066+27dup	ENSP00000505563.1:n.*1066+26_*1066+27dup
ENST00000291074.9:c.*11_*12dup	ENSP00000291074.5:n.*11_*12dup
ENST00000437048.6:c.2085+26_2085+27dup	ENSP00000401435.2:n.2085+26_2085+27dup
ENST00000570771.1:n.152+26_152+27dup
ENST00000571805.5:c.*11_*12dup	ENSP00000459312.1:n.*11_*12dup
ENST00000573028.5:c.*1558_*1559dup	ENSP00000458311.1:n.*1558_*1559dup
ENST00000574029.5:c.207-15177_207-15176dup	ENSP00000459159.1:n.207-15177_207-15176dup
ENST00000576149.5:n.1855+26_1855+27dup
NM_001128159.2:c.2085+26_2085+27dup	NP_001121631.1:n.2085+26_2085+27dup
NM_018289.3:c.*11_*12dup	NP_060759.2:n.*11_*12dup
XM_011523953.1:c.*11_*12dup	XP_011522255.1:n.*11_*12dup
XR_934061.1:n.2382+26_2382+27dup
XR_934133.1:n.291-7573_291-7572dup
NM_001366253.1:c.*11_*12dup	NP_001353182.1:n.*11_*12dup
NM_001366254.1:c.*11_*12dup	NP_001353183.1:n.*11_*12dup
XM_017024817.2:c.1935+26_1935+27dup	XP_016880306.1:n.1935+26_1935+27dup
XM_017024818.1:c.1716+26_1716+27dup	XP_016880307.1:n.1716+26_1716+27dup
XR_001752553.2:n.2222+26_2222+27dup
XR_934061.3:n.2372+26_2372+27dup
NM_001128159.3:c.2085+26_2085+27dup MANE Select	NP_001121631.1:n.2085+26_2085+27dup
NM_001366253.2:c.*11_*12dup	NP_001353182.1:n.*11_*12dup
NM_001366254.2:c.*11_*12dup	NP_001353183.1:n.*11_*12dup
NM_018289.4:c.*11_*12dup	NP_060759.2:n.*11_*12dup