Canonical Allele Identifier: CA2635138500

Gene: VPS53

Linked Data

• gnomAD v4: 17-532680-GGAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.532684_532686del , CM000679.2:g.532684_532686del	GRCh38
NC_000017.10:g.435924_435926del , CM000679.1:g.435924_435926del	GRCh37
NC_000017.9:g.382674_382676del	NCBI36
NG_034190.1:g.187174_187176del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291074.10:c.*144_*146del	ENSP00000291074.5:n.*144_*146del
ENST00000437048.7:c.2085+159_2085+161del MANE Select	ENSP00000401435.2:n.2085+159_2085+161del
ENST00000571805.6:c.*144_*146del	ENSP00000459312.1:n.*144_*146del
ENST00000680128.1:c.*144_*146del	ENSP00000506159.1:n.*144_*146del
ENST00000680465.1:c.2085+159_2085+161del	ENSP00000505997.1:n.2085+159_2085+161del
ENST00000680641.1:c.*3334+159_*3334+161del	ENSP00000505237.1:n.*3334+159_*3334+161del
ENST00000680872.1:c.*1211+159_*1211+161del	ENSP00000506605.1:n.*1211+159_*1211+161del
ENST00000681050.1:c.298+159_298+161del
ENST00000681096.1:c.*144_*146del	ENSP00000506052.1:n.*144_*146del
ENST00000681103.1:c.315+159_315+161del	ENSP00000505892.1:n.315+159_315+161del
ENST00000681160.1:c.1716+159_1716+161del	ENSP00000504905.1:n.1716+159_1716+161del
ENST00000681317.1:c.2015+4345_2015+4347del	ENSP00000505190.1:n.2015+4345_2015+4347del
ENST00000681478.1:c.*2064_*2066del	ENSP00000505041.1:n.*2064_*2066del
ENST00000681510.1:c.1935+159_1935+161del	ENSP00000505594.1:n.1935+159_1935+161del
ENST00000681600.1:n.1180+159_1180+161del
ENST00000681661.1:c.*1066+159_*1066+161del	ENSP00000506596.1:n.*1066+159_*1066+161del
ENST00000681858.1:c.315+159_315+161del	ENSP00000505044.1:n.315+159_315+161del
ENST00000681917.1:c.1554+159_1554+161del	ENSP00000505944.1:n.1554+159_1554+161del
ENST00000681943.1:c.1803+159_1803+161del	ENSP00000504889.1:n.1803+159_1803+161del
ENST00000681946.1:c.*1066+159_*1066+161del	ENSP00000505563.1:n.*1066+159_*1066+161del
ENST00000291074.9:c.*144_*146del	ENSP00000291074.5:n.*144_*146del
ENST00000437048.6:c.2085+159_2085+161del	ENSP00000401435.2:n.2085+159_2085+161del
ENST00000570771.1:n.152+159_152+161del
ENST00000573028.5:c.*1691_*1693del	ENSP00000458311.1:n.*1691_*1693del
ENST00000574029.5:c.207-15044_207-15042del	ENSP00000459159.1:n.207-15044_207-15042del
ENST00000576149.5:n.1855+159_1855+161del
NM_001128159.2:c.2085+159_2085+161del	NP_001121631.1:n.2085+159_2085+161del
NM_018289.3:c.*144_*146del	NP_060759.2:n.*144_*146del
XR_934061.1:n.2382+159_2382+161del
XR_934133.1:n.291-7705_291-7703del
XM_017024817.2:c.1935+159_1935+161del	XP_016880306.1:n.1935+159_1935+161del
XM_017024818.1:c.1716+159_1716+161del	XP_016880307.1:n.1716+159_1716+161del
XR_001752553.2:n.2222+159_2222+161del
XR_934061.3:n.2372+159_2372+161del
NM_001128159.3:c.2085+159_2085+161del MANE Select	NP_001121631.1:n.2085+159_2085+161del
NM_001366253.2:c.*144_*146del	NP_001353182.1:n.*144_*146del
NM_001366254.2:c.*144_*146del	NP_001353183.1:n.*144_*146del
NM_018289.4:c.*144_*146del	NP_060759.2:n.*144_*146del