Canonical Allele Identifier: CA2635138627
Gene: VPS53 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.532733_532739del , CM000679.2:g.532733_532739del GRCh38
NC_000017.10:g.435973_435979del , CM000679.1:g.435973_435979del GRCh37
NC_000017.9:g.382723_382729del NCBI36
NG_034190.1:g.187121_187127del

Transcript Alleles

HGVS Amino-acid Change
ENST00000291074.10:c.*91_*97del ENSP00000291074.5:n.*91_*97del
ENST00000437048.7:c.2085+106_2085+112del MANE Select ENSP00000401435.2:n.2085+106_2085+112del
ENST00000571805.6:c.*91_*97del ENSP00000459312.1:n.*91_*97del
ENST00000679817.1:c.*91_*97del ENSP00000505032.1:n.*91_*97del
ENST00000680128.1:c.*91_*97del ENSP00000506159.1:n.*91_*97del
ENST00000680465.1:c.2085+106_2085+112del ENSP00000505997.1:n.2085+106_2085+112del
ENST00000680641.1:c.*3334+106_*3334+112del ENSP00000505237.1:n.*3334+106_*3334+112del
ENST00000680872.1:c.*1211+106_*1211+112del ENSP00000506605.1:n.*1211+106_*1211+112del
ENST00000681050.1:c.298+106_298+112del
ENST00000681096.1:c.*91_*97del ENSP00000506052.1:n.*91_*97del
ENST00000681103.1:c.315+106_315+112del ENSP00000505892.1:n.315+106_315+112del
ENST00000681160.1:c.1716+106_1716+112del ENSP00000504905.1:n.1716+106_1716+112del
ENST00000681317.1:c.2015+4292_2015+4298del ENSP00000505190.1:n.2015+4292_2015+4298del
ENST00000681478.1:c.*2011_*2017del ENSP00000505041.1:n.*2011_*2017del
ENST00000681510.1:c.1935+106_1935+112del ENSP00000505594.1:n.1935+106_1935+112del
ENST00000681600.1:n.1180+106_1180+112del
ENST00000681661.1:c.*1066+106_*1066+112del ENSP00000506596.1:n.*1066+106_*1066+112del
ENST00000681858.1:c.315+106_315+112del ENSP00000505044.1:n.315+106_315+112del
ENST00000681917.1:c.1554+106_1554+112del ENSP00000505944.1:n.1554+106_1554+112del
ENST00000681943.1:c.1803+106_1803+112del ENSP00000504889.1:n.1803+106_1803+112del
ENST00000681946.1:c.*1066+106_*1066+112del ENSP00000505563.1:n.*1066+106_*1066+112del
ENST00000291074.9:c.*91_*97del ENSP00000291074.5:n.*91_*97del
ENST00000437048.6:c.2085+106_2085+112del ENSP00000401435.2:n.2085+106_2085+112del
ENST00000570771.1:n.152+106_152+112del
ENST00000571805.5:c.*91_*97del ENSP00000459312.1:n.*91_*97del
ENST00000573028.5:c.*1638_*1644del ENSP00000458311.1:n.*1638_*1644del
ENST00000574029.5:c.207-15097_207-15091del ENSP00000459159.1:n.207-15097_207-15091del
ENST00000576149.5:n.1855+106_1855+112del
NM_001128159.2:c.2085+106_2085+112del NP_001121631.1:n.2085+106_2085+112del
NM_018289.3:c.*91_*97del NP_060759.2:n.*91_*97del
XM_011523953.1:c.*91_*97del XP_011522255.1:n.*91_*97del
XR_934061.1:n.2382+106_2382+112del
XR_934133.1:n.291-7656_291-7650del
NM_001366253.1:c.*91_*97del NP_001353182.1:n.*91_*97del
NM_001366254.1:c.*91_*97del NP_001353183.1:n.*91_*97del
XM_017024817.2:c.1935+106_1935+112del XP_016880306.1:n.1935+106_1935+112del
XM_017024818.1:c.1716+106_1716+112del XP_016880307.1:n.1716+106_1716+112del
XR_001752553.2:n.2222+106_2222+112del
XR_934061.3:n.2372+106_2372+112del
NM_001128159.3:c.2085+106_2085+112del MANE Select NP_001121631.1:n.2085+106_2085+112del
NM_001366253.2:c.*91_*97del NP_001353182.1:n.*91_*97del
NM_001366254.2:c.*91_*97del NP_001353183.1:n.*91_*97del
NM_018289.4:c.*91_*97del NP_060759.2:n.*91_*97del