Canonical Allele Identifier: CA2635138742

Gene: VPS53

Linked Data

• gnomAD v4: 17-532794-C-CTACA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.532795_532798dup , CM000679.2:g.532795_532798dup	GRCh38
NC_000017.10:g.436035_436038dup , CM000679.1:g.436035_436038dup	GRCh37
NC_000017.9:g.382785_382788dup	NCBI36
NG_034190.1:g.187059_187062dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291074.10:c.*29_*32dup	ENSP00000291074.5:n.*29_*32dup
ENST00000437048.7:c.2085+44_2085+47dup MANE Select	ENSP00000401435.2:n.2085+44_2085+47dup
ENST00000571805.6:c.*29_*32dup	ENSP00000459312.1:n.*29_*32dup
ENST00000679817.1:c.*29_*32dup	ENSP00000505032.1:n.*29_*32dup
ENST00000680128.1:c.*29_*32dup	ENSP00000506159.1:n.*29_*32dup
ENST00000680465.1:c.2085+44_2085+47dup	ENSP00000505997.1:n.2085+44_2085+47dup
ENST00000680641.1:c.*3334+44_*3334+47dup	ENSP00000505237.1:n.*3334+44_*3334+47dup
ENST00000680872.1:c.*1211+44_*1211+47dup	ENSP00000506605.1:n.*1211+44_*1211+47dup
ENST00000681050.1:c.298+44_298+47dup
ENST00000681096.1:c.*29_*32dup	ENSP00000506052.1:n.*29_*32dup
ENST00000681103.1:c.315+44_315+47dup	ENSP00000505892.1:n.315+44_315+47dup
ENST00000681160.1:c.1716+44_1716+47dup	ENSP00000504905.1:n.1716+44_1716+47dup
ENST00000681317.1:c.2015+4230_2015+4233dup	ENSP00000505190.1:n.2015+4230_2015+4233dup
ENST00000681478.1:c.*1949_*1952dup	ENSP00000505041.1:n.*1949_*1952dup
ENST00000681510.1:c.1935+44_1935+47dup	ENSP00000505594.1:n.1935+44_1935+47dup
ENST00000681600.1:n.1180+44_1180+47dup
ENST00000681661.1:c.*1066+44_*1066+47dup	ENSP00000506596.1:n.*1066+44_*1066+47dup
ENST00000681858.1:c.315+44_315+47dup	ENSP00000505044.1:n.315+44_315+47dup
ENST00000681917.1:c.1554+44_1554+47dup	ENSP00000505944.1:n.1554+44_1554+47dup
ENST00000681943.1:c.1803+44_1803+47dup	ENSP00000504889.1:n.1803+44_1803+47dup
ENST00000681946.1:c.*1066+44_*1066+47dup	ENSP00000505563.1:n.*1066+44_*1066+47dup
ENST00000291074.9:c.*29_*32dup	ENSP00000291074.5:n.*29_*32dup
ENST00000437048.6:c.2085+44_2085+47dup	ENSP00000401435.2:n.2085+44_2085+47dup
ENST00000570771.1:n.152+44_152+47dup
ENST00000571805.5:c.*29_*32dup	ENSP00000459312.1:n.*29_*32dup
ENST00000573028.5:c.*1576_*1579dup	ENSP00000458311.1:n.*1576_*1579dup
ENST00000574029.5:c.207-15159_207-15156dup	ENSP00000459159.1:n.207-15159_207-15156dup
ENST00000576149.5:n.1855+44_1855+47dup
NM_001128159.2:c.2085+44_2085+47dup	NP_001121631.1:n.2085+44_2085+47dup
NM_018289.3:c.*29_*32dup	NP_060759.2:n.*29_*32dup
XM_011523953.1:c.*29_*32dup	XP_011522255.1:n.*29_*32dup
XR_934061.1:n.2382+44_2382+47dup
XR_934133.1:n.291-7594_291-7591dup
NM_001366253.1:c.*29_*32dup	NP_001353182.1:n.*29_*32dup
NM_001366254.1:c.*29_*32dup	NP_001353183.1:n.*29_*32dup
XM_017024817.2:c.1935+44_1935+47dup	XP_016880306.1:n.1935+44_1935+47dup
XM_017024818.1:c.1716+44_1716+47dup	XP_016880307.1:n.1716+44_1716+47dup
XR_001752553.2:n.2222+44_2222+47dup
XR_934061.3:n.2372+44_2372+47dup
NM_001128159.3:c.2085+44_2085+47dup MANE Select	NP_001121631.1:n.2085+44_2085+47dup
NM_001366253.2:c.*29_*32dup	NP_001353182.1:n.*29_*32dup
NM_001366254.2:c.*29_*32dup	NP_001353183.1:n.*29_*32dup
NM_018289.4:c.*29_*32dup	NP_060759.2:n.*29_*32dup