Canonical Allele Identifier: CA624442869

Gene: VPS53

Linked Data

• dbSNP Id: rs1166070402
• gnomAD v2: 17-435971-CAG-C
• gnomAD v3: 17-532731-CAG-C
• gnomAD v4: 17-532731-CAG-C
• MyVariant Identifiers: chr17:g.435972_435973del (hg19) ; chr17:g.532732_532733del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.532732_532733del , CM000679.2:g.532732_532733del	GRCh38
NC_000017.10:g.435972_435973del , CM000679.1:g.435972_435973del	GRCh37
NC_000017.9:g.382722_382723del	NCBI36
NG_034190.1:g.187124_187125del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291074.10:c.*94_*95del	ENSP00000291074.5:n.*94_*95del
ENST00000437048.7:c.2085+109_2085+110del MANE Select	ENSP00000401435.2:n.2085+109_2085+110del
ENST00000571805.6:c.*94_*95del	ENSP00000459312.1:n.*94_*95del
ENST00000679817.1:c.*94_*95del	ENSP00000505032.1:n.*94_*95del
ENST00000680128.1:c.*94_*95del	ENSP00000506159.1:n.*94_*95del
ENST00000680465.1:c.2085+109_2085+110del	ENSP00000505997.1:n.2085+109_2085+110del
ENST00000680641.1:c.*3334+109_*3334+110del	ENSP00000505237.1:n.*3334+109_*3334+110del
ENST00000680872.1:c.*1211+109_*1211+110del	ENSP00000506605.1:n.*1211+109_*1211+110del
ENST00000681050.1:c.298+109_298+110del
ENST00000681096.1:c.*94_*95del	ENSP00000506052.1:n.*94_*95del
ENST00000681103.1:c.315+109_315+110del	ENSP00000505892.1:n.315+109_315+110del
ENST00000681160.1:c.1716+109_1716+110del	ENSP00000504905.1:n.1716+109_1716+110del
ENST00000681317.1:c.2015+4295_2015+4296del	ENSP00000505190.1:n.2015+4295_2015+4296del
ENST00000681478.1:c.*2014_*2015del	ENSP00000505041.1:n.*2014_*2015del
ENST00000681510.1:c.1935+109_1935+110del	ENSP00000505594.1:n.1935+109_1935+110del
ENST00000681600.1:n.1180+109_1180+110del
ENST00000681661.1:c.*1066+109_*1066+110del	ENSP00000506596.1:n.*1066+109_*1066+110del
ENST00000681858.1:c.315+109_315+110del	ENSP00000505044.1:n.315+109_315+110del
ENST00000681917.1:c.1554+109_1554+110del	ENSP00000505944.1:n.1554+109_1554+110del
ENST00000681943.1:c.1803+109_1803+110del	ENSP00000504889.1:n.1803+109_1803+110del
ENST00000681946.1:c.*1066+109_*1066+110del	ENSP00000505563.1:n.*1066+109_*1066+110del
ENST00000291074.9:c.*94_*95del	ENSP00000291074.5:n.*94_*95del
ENST00000437048.6:c.2085+109_2085+110del	ENSP00000401435.2:n.2085+109_2085+110del
ENST00000570771.1:n.152+109_152+110del
ENST00000571805.5:c.*94_*95del	ENSP00000459312.1:n.*94_*95del
ENST00000573028.5:c.*1641_*1642del	ENSP00000458311.1:n.*1641_*1642del
ENST00000574029.5:c.207-15094_207-15093del	ENSP00000459159.1:n.207-15094_207-15093del
ENST00000576149.5:n.1855+109_1855+110del
NM_001128159.2:c.2085+109_2085+110del	NP_001121631.1:n.2085+109_2085+110del
NM_018289.3:c.*94_*95del	NP_060759.2:n.*94_*95del
XM_011523953.1:c.*94_*95del	XP_011522255.1:n.*94_*95del
XR_934061.1:n.2382+109_2382+110del
XR_934133.1:n.291-7657_291-7656del
NM_001366253.1:c.*94_*95del	NP_001353182.1:n.*94_*95del
NM_001366254.1:c.*94_*95del	NP_001353183.1:n.*94_*95del
XM_017024817.2:c.1935+109_1935+110del	XP_016880306.1:n.1935+109_1935+110del
XM_017024818.1:c.1716+109_1716+110del	XP_016880307.1:n.1716+109_1716+110del
XR_001752553.2:n.2222+109_2222+110del
XR_934061.3:n.2372+109_2372+110del
NM_001128159.3:c.2085+109_2085+110del MANE Select	NP_001121631.1:n.2085+109_2085+110del
NM_001366253.2:c.*94_*95del	NP_001353182.1:n.*94_*95del
NM_001366254.2:c.*94_*95del	NP_001353183.1:n.*94_*95del
NM_018289.4:c.*94_*95del	NP_060759.2:n.*94_*95del