Canonical Allele Identifier: CA624456642

Gene: VPS53

Linked Data

• dbSNP Id: rs1248774717
• gnomAD v2: 17-465822-G-GC
• gnomAD v4: 17-562582-G-GC
• MyVariant Identifiers: chr17:g.465822_465823insC (hg19) ; chr17:g.562582_562583insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.562583dup , CM000679.2:g.562583dup	GRCh38
NC_000017.10:g.465823dup , CM000679.1:g.465823dup	GRCh37
NC_000017.9:g.412573dup	NCBI36
NG_034190.1:g.157274dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291074.10:c.1389dup	ENSP00000291074.5:p.Pro464AlafsTer?
ENST00000437048.7:c.1476dup MANE Select	ENSP00000401435.2:p.Pro493AlafsTer?
ENST00000571805.6:c.1476dup	ENSP00000459312.1:p.Pro493AlafsTer?
ENST00000572334.7:c.1107dup	ENSP00000506188.1:p.Pro370AlafsTer?
ENST00000572607.2:n.306dup
ENST00000679361.1:c.1476dup	ENSP00000504978.1:p.Pro493AlafsTer?
ENST00000679959.1:c.1009dup	ENSP00000506180.1:n.1009dup
ENST00000680069.1:c.1476dup	ENSP00000505145.1:p.Pro493AlafsTer?
ENST00000680114.1:c.1002dup	ENSP00000505327.1:p.Pro335AlafsTer?
ENST00000680128.1:c.1272dup	ENSP00000506159.1:p.Pro425AlafsTer?
ENST00000680274.1:n.1038dup
ENST00000680465.1:c.1476dup	ENSP00000505997.1:p.Pro493AlafsTer?
ENST00000680641.1:c.*1296dup	ENSP00000505237.1:n.*1296dup
ENST00000680702.1:n.381dup
ENST00000680704.1:c.1107dup	ENSP00000506453.1:p.Pro370AlafsTer?
ENST00000680872.1:c.*602dup	ENSP00000506605.1:n.*602dup
ENST00000680944.1:n.871dup
ENST00000680958.1:n.1383dup
ENST00000681096.1:c.1017dup	ENSP00000506052.1:p.Pro340AlafsTer?
ENST00000681154.1:c.1389dup	ENSP00000505866.1:p.Pro464AlafsTer?
ENST00000681160.1:c.1107dup	ENSP00000504905.1:p.Pro370AlafsTer?
ENST00000681317.1:c.1476dup	ENSP00000505190.1:p.Pro493AlafsTer?
ENST00000681478.1:c.*1296dup	ENSP00000505041.1:n.*1296dup
ENST00000681510.1:c.1326dup	ENSP00000505594.1:p.Pro443AlafsTer?
ENST00000681600.1:n.571dup
ENST00000681661.1:c.*457dup	ENSP00000506596.1:n.*457dup
ENST00000681830.1:c.1025dup	ENSP00000505322.1:n.1025dup
ENST00000681897.1:n.728dup
ENST00000681902.1:c.1476dup	ENSP00000505328.1:p.Pro493AlafsTer?
ENST00000681917.1:c.945dup	ENSP00000505944.1:p.Pro316AlafsTer?
ENST00000681943.1:c.1342dup	ENSP00000504889.1:n.1342dup
ENST00000681946.1:c.*457dup	ENSP00000505563.1:n.*457dup
ENST00000291074.9:c.1389dup	ENSP00000291074.5:p.Pro464AlafsTer?
ENST00000389040.9:c.1332dup	ENSP00000373692.5:p.Pro445AlafsTer?
ENST00000401468.7:c.645dup	ENSP00000384294.3:p.Pro216AlafsTer?
ENST00000437048.6:c.1476dup	ENSP00000401435.2:p.Pro493AlafsTer?
ENST00000571805.5:c.1476dup	ENSP00000459312.1:p.Pro493AlafsTer?
ENST00000572607.1:n.104dup
ENST00000573028.5:c.*923dup	ENSP00000458311.1:n.*923dup
ENST00000574029.5:c.207-44944dup	ENSP00000459159.1:n.207-44944dup
ENST00000576149.5:n.1246dup
NM_001128159.2:c.1476dup	NP_001121631.1:p.Pro493AlafsTer?
NM_018289.3:c.1389dup	NP_060759.2:p.Pro464AlafsTer?
XM_011523953.1:c.882dup	XP_011522255.1:p.Pro295AlafsTer?
XR_934061.1:n.1773dup
XR_934062.1:n.1528dup
NM_001366253.1:c.1476dup	NP_001353182.1:p.Pro493AlafsTer?
NM_001366254.1:c.882dup	NP_001353183.1:p.Pro295AlafsTer?
XM_017024817.2:c.1326dup	XP_016880306.1:p.Pro443AlafsTer?
XM_017024818.1:c.1107dup	XP_016880307.1:p.Pro370AlafsTer?
XR_001752553.2:n.1613dup
XR_934061.3:n.1763dup
XR_934062.2:n.1518dup
NM_001128159.3:c.1476dup MANE Select	NP_001121631.1:p.Pro493AlafsTer?
NM_001366253.2:c.1476dup	NP_001353182.1:p.Pro493AlafsTer?
NM_001366254.2:c.882dup	NP_001353183.1:p.Pro295AlafsTer?
NM_018289.4:c.1389dup	NP_060759.2:p.Pro464AlafsTer?