Canonical Allele Identifier: CA2635138807
Gene: VPS53 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.532820_532821del , CM000679.2:g.532820_532821del GRCh38
NC_000017.10:g.436060_436061del , CM000679.1:g.436060_436061del GRCh37
NC_000017.9:g.382810_382811del NCBI36
NG_034190.1:g.187036_187037del

Transcript Alleles

HGVS Amino-acid Change
ENST00000291074.10:c.*6_*7del ENSP00000291074.5:n.*6_*7del
ENST00000437048.7:c.2085+21_2085+22del MANE Select ENSP00000401435.2:n.2085+21_2085+22del
ENST00000571805.6:c.*6_*7del ENSP00000459312.1:n.*6_*7del
ENST00000679817.1:c.*6_*7del ENSP00000505032.1:n.*6_*7del
ENST00000680128.1:c.*6_*7del ENSP00000506159.1:n.*6_*7del
ENST00000680465.1:c.2085+21_2085+22del ENSP00000505997.1:n.2085+21_2085+22del
ENST00000680641.1:c.*3334+21_*3334+22del ENSP00000505237.1:n.*3334+21_*3334+22del
ENST00000680872.1:c.*1211+21_*1211+22del ENSP00000506605.1:n.*1211+21_*1211+22del
ENST00000681050.1:c.298+21_298+22del
ENST00000681096.1:c.*6_*7del ENSP00000506052.1:n.*6_*7del
ENST00000681103.1:c.315+21_315+22del ENSP00000505892.1:n.315+21_315+22del
ENST00000681160.1:c.1716+21_1716+22del ENSP00000504905.1:n.1716+21_1716+22del
ENST00000681317.1:c.2015+4207_2015+4208del ENSP00000505190.1:n.2015+4207_2015+4208del
ENST00000681478.1:c.*1926_*1927del ENSP00000505041.1:n.*1926_*1927del
ENST00000681510.1:c.1935+21_1935+22del ENSP00000505594.1:n.1935+21_1935+22del
ENST00000681600.1:n.1180+21_1180+22del
ENST00000681661.1:c.*1066+21_*1066+22del ENSP00000506596.1:n.*1066+21_*1066+22del
ENST00000681858.1:c.315+21_315+22del ENSP00000505044.1:n.315+21_315+22del
ENST00000681917.1:c.1554+21_1554+22del ENSP00000505944.1:n.1554+21_1554+22del
ENST00000681943.1:c.1803+21_1803+22del ENSP00000504889.1:n.1803+21_1803+22del
ENST00000681946.1:c.*1066+21_*1066+22del ENSP00000505563.1:n.*1066+21_*1066+22del
ENST00000291074.9:c.*6_*7del ENSP00000291074.5:n.*6_*7del
ENST00000437048.6:c.2085+21_2085+22del ENSP00000401435.2:n.2085+21_2085+22del
ENST00000570771.1:n.152+21_152+22del
ENST00000571805.5:c.*6_*7del ENSP00000459312.1:n.*6_*7del
ENST00000573028.5:c.*1553_*1554del ENSP00000458311.1:n.*1553_*1554del
ENST00000574029.5:c.207-15182_207-15181del ENSP00000459159.1:n.207-15182_207-15181del
ENST00000576149.5:n.1855+21_1855+22del
NM_001128159.2:c.2085+21_2085+22del NP_001121631.1:n.2085+21_2085+22del
NM_018289.3:c.*6_*7del NP_060759.2:n.*6_*7del
XM_011523953.1:c.*6_*7del XP_011522255.1:n.*6_*7del
XR_934061.1:n.2382+21_2382+22del
XR_934133.1:n.291-7569_291-7568del
NM_001366253.1:c.*6_*7del NP_001353182.1:n.*6_*7del
NM_001366254.1:c.*6_*7del NP_001353183.1:n.*6_*7del
XM_017024817.2:c.1935+21_1935+22del XP_016880306.1:n.1935+21_1935+22del
XM_017024818.1:c.1716+21_1716+22del XP_016880307.1:n.1716+21_1716+22del
XR_001752553.2:n.2222+21_2222+22del
XR_934061.3:n.2372+21_2372+22del
NM_001128159.3:c.2085+21_2085+22del MANE Select NP_001121631.1:n.2085+21_2085+22del
NM_001366253.2:c.*6_*7del NP_001353182.1:n.*6_*7del
NM_001366254.2:c.*6_*7del NP_001353183.1:n.*6_*7del
NM_018289.4:c.*6_*7del NP_060759.2:n.*6_*7del