Canonical Allele Identifier: CA2242366267
Gene: VPS53 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.532735_532738delinsGGAC , CM000679.2:g.532735_532738delinsGGAC GRCh38
NC_000017.10:g.435975_435978delinsGGAC , CM000679.1:g.435975_435978delinsGGAC GRCh37
NC_000017.9:g.382725_382728delinsGGAC NCBI36
NG_034190.1:g.187119_187122delinsGTCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000291074.10:c.*89_*92delinsGTCC ENSP00000291074.5:n.*89_*92delinsGTCC
ENST00000437048.7:c.2085+104_2085+107delinsGTCC MANE Select ENSP00000401435.2:n.2085+104_2085+107delinsGTCC
ENST00000571805.6:c.*89_*92delinsGTCC ENSP00000459312.1:n.*89_*92delinsGTCC
ENST00000679817.1:c.*89_*92delinsGTCC ENSP00000505032.1:n.*89_*92delinsGTCC
ENST00000680128.1:c.*89_*92delinsGTCC ENSP00000506159.1:n.*89_*92delinsGTCC
ENST00000680465.1:c.2085+104_2085+107delinsGTCC ENSP00000505997.1:n.2085+104_2085+107delinsGTCC
ENST00000680641.1:c.*3334+104_*3334+107delinsGTCC ENSP00000505237.1:n.*3334+104_*3334+107delinsGTCC
ENST00000680872.1:c.*1211+104_*1211+107delinsGTCC ENSP00000506605.1:n.*1211+104_*1211+107delinsGTCC
ENST00000681050.1:c.298+104_298+107delinsGTCC
ENST00000681096.1:c.*89_*92delinsGTCC ENSP00000506052.1:n.*89_*92delinsGTCC
ENST00000681103.1:c.315+104_315+107delinsGTCC ENSP00000505892.1:n.315+104_315+107delinsGTCC
ENST00000681160.1:c.1716+104_1716+107delinsGTCC ENSP00000504905.1:n.1716+104_1716+107delinsGTCC
ENST00000681317.1:c.2015+4290_2015+4293delinsGTCC ENSP00000505190.1:n.2015+4290_2015+4293delinsGTCC
ENST00000681478.1:c.*2009_*2012delinsGTCC ENSP00000505041.1:n.*2009_*2012delinsGTCC
ENST00000681510.1:c.1935+104_1935+107delinsGTCC ENSP00000505594.1:n.1935+104_1935+107delinsGTCC
ENST00000681600.1:n.1180+104_1180+107delinsGTCC
ENST00000681661.1:c.*1066+104_*1066+107delinsGTCC ENSP00000506596.1:n.*1066+104_*1066+107delinsGTCC
ENST00000681858.1:c.315+104_315+107delinsGTCC ENSP00000505044.1:n.315+104_315+107delinsGTCC
ENST00000681917.1:c.1554+104_1554+107delinsGTCC ENSP00000505944.1:n.1554+104_1554+107delinsGTCC
ENST00000681943.1:c.1803+104_1803+107delinsGTCC ENSP00000504889.1:n.1803+104_1803+107delinsGTCC
ENST00000681946.1:c.*1066+104_*1066+107delinsGTCC ENSP00000505563.1:n.*1066+104_*1066+107delinsGTCC
ENST00000291074.9:c.*89_*92delinsGTCC ENSP00000291074.5:n.*89_*92delinsGTCC
ENST00000437048.6:c.2085+104_2085+107delinsGTCC ENSP00000401435.2:n.2085+104_2085+107delinsGTCC
ENST00000570771.1:n.152+104_152+107delinsGTCC
ENST00000571805.5:c.*89_*92delinsGTCC ENSP00000459312.1:n.*89_*92delinsGTCC
ENST00000573028.5:c.*1636_*1639delinsGTCC ENSP00000458311.1:n.*1636_*1639delinsGTCC
ENST00000574029.5:c.207-15099_207-15096delinsGTCC ENSP00000459159.1:n.207-15099_207-15096delinsGTCC
ENST00000576149.5:n.1855+104_1855+107delinsGTCC
NM_001128159.2:c.2085+104_2085+107delinsGTCC NP_001121631.1:n.2085+104_2085+107delinsGTCC
NM_018289.3:c.*89_*92delinsGTCC NP_060759.2:n.*89_*92delinsGTCC
XM_011523953.1:c.*89_*92delinsGTCC XP_011522255.1:n.*89_*92delinsGTCC
XR_934061.1:n.2382+104_2382+107delinsGTCC
XR_934133.1:n.291-7654_291-7651delinsGGAC
NM_001366253.1:c.*89_*92delinsGTCC NP_001353182.1:n.*89_*92delinsGTCC
NM_001366254.1:c.*89_*92delinsGTCC NP_001353183.1:n.*89_*92delinsGTCC
XM_017024817.2:c.1935+104_1935+107delinsGTCC XP_016880306.1:n.1935+104_1935+107delinsGTCC
XM_017024818.1:c.1716+104_1716+107delinsGTCC XP_016880307.1:n.1716+104_1716+107delinsGTCC
XR_001752553.2:n.2222+104_2222+107delinsGTCC
XR_934061.3:n.2372+104_2372+107delinsGTCC
NM_001128159.3:c.2085+104_2085+107delinsGTCC MANE Select NP_001121631.1:n.2085+104_2085+107delinsGTCC
NM_001366253.2:c.*89_*92delinsGTCC NP_001353182.1:n.*89_*92delinsGTCC
NM_001366254.2:c.*89_*92delinsGTCC NP_001353183.1:n.*89_*92delinsGTCC
NM_018289.4:c.*89_*92delinsGTCC NP_060759.2:n.*89_*92delinsGTCC