Canonical Allele Identifier: CA2635138663

Gene: VPS53

Linked Data

• gnomAD v4: 17-532746-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.532750del , CM000679.2:g.532750del	GRCh38
NC_000017.10:g.435990del , CM000679.1:g.435990del	GRCh37
NC_000017.9:g.382740del	NCBI36
NG_034190.1:g.187110del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291074.10:c.*80del	ENSP00000291074.5:n.*80del
ENST00000437048.7:c.2085+95del MANE Select	ENSP00000401435.2:n.2085+95del
ENST00000571805.6:c.*80del	ENSP00000459312.1:n.*80del
ENST00000679817.1:c.*80del	ENSP00000505032.1:n.*80del
ENST00000680128.1:c.*80del	ENSP00000506159.1:n.*80del
ENST00000680465.1:c.2085+95del	ENSP00000505997.1:n.2085+95del
ENST00000680641.1:c.*3334+95del	ENSP00000505237.1:n.*3334+95del
ENST00000680872.1:c.*1211+95del	ENSP00000506605.1:n.*1211+95del
ENST00000681050.1:c.298+95del
ENST00000681096.1:c.*80del	ENSP00000506052.1:n.*80del
ENST00000681103.1:c.315+95del	ENSP00000505892.1:n.315+95del
ENST00000681160.1:c.1716+95del	ENSP00000504905.1:n.1716+95del
ENST00000681317.1:c.2015+4281del	ENSP00000505190.1:n.2015+4281del
ENST00000681478.1:c.*2000del	ENSP00000505041.1:n.*2000del
ENST00000681510.1:c.1935+95del	ENSP00000505594.1:n.1935+95del
ENST00000681600.1:n.1180+95del
ENST00000681661.1:c.*1066+95del	ENSP00000506596.1:n.*1066+95del
ENST00000681858.1:c.315+95del	ENSP00000505044.1:n.315+95del
ENST00000681917.1:c.1554+95del	ENSP00000505944.1:n.1554+95del
ENST00000681943.1:c.1803+95del	ENSP00000504889.1:n.1803+95del
ENST00000681946.1:c.*1066+95del	ENSP00000505563.1:n.*1066+95del
ENST00000291074.9:c.*80del	ENSP00000291074.5:n.*80del
ENST00000437048.6:c.2085+95del	ENSP00000401435.2:n.2085+95del
ENST00000570771.1:n.152+95del
ENST00000571805.5:c.*80del	ENSP00000459312.1:n.*80del
ENST00000573028.5:c.*1627del	ENSP00000458311.1:n.*1627del
ENST00000574029.5:c.207-15108del	ENSP00000459159.1:n.207-15108del
ENST00000576149.5:n.1855+95del
NM_001128159.2:c.2085+95del	NP_001121631.1:n.2085+95del
NM_018289.3:c.*80del	NP_060759.2:n.*80del
XM_011523953.1:c.*80del	XP_011522255.1:n.*80del
XR_934061.1:n.2382+95del
XR_934133.1:n.291-7639del
NM_001366253.1:c.*80del	NP_001353182.1:n.*80del
NM_001366254.1:c.*80del	NP_001353183.1:n.*80del
XM_017024817.2:c.1935+95del	XP_016880306.1:n.1935+95del
XM_017024818.1:c.1716+95del	XP_016880307.1:n.1716+95del
XR_001752553.2:n.2222+95del
XR_934061.3:n.2372+95del
NM_001128159.3:c.2085+95del MANE Select	NP_001121631.1:n.2085+95del
NM_001366253.2:c.*80del	NP_001353182.1:n.*80del
NM_001366254.2:c.*80del	NP_001353183.1:n.*80del
NM_018289.4:c.*80del	NP_060759.2:n.*80del