Canonical Allele Identifier: CA397710499

Gene: VPS53

Linked Data

• MyVariant Identifiers: chr17:g.532954_532955del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.532954_532955del , CM000679.2:g.532954_532955del	GRCh38
NC_000017.10:g.436194_436195del , CM000679.1:g.436194_436195del	GRCh37
NC_000017.9:g.382944_382945del	NCBI36
NG_034190.1:g.186902_186903del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291074.10:c.1929-44_1929-43del	ENSP00000291074.5:n.1929-44_1929-43del
ENST00000437048.7:c.2016-44_2016-43del MANE Select	ENSP00000401435.2:n.2016-44_2016-43del
ENST00000571805.6:c.2016-44_2016-43del	ENSP00000459312.1:n.2016-44_2016-43del
ENST00000572334.7:c.1647-44_1647-43del	ENSP00000506188.1:n.1647-44_1647-43del
ENST00000679817.1:c.246-44_246-43del	ENSP00000505032.1:n.246-44_246-43del
ENST00000680128.1:c.1812-44_1812-43del	ENSP00000506159.1:n.1812-44_1812-43del
ENST00000680465.1:c.2016-44_2016-43del	ENSP00000505997.1:n.2016-44_2016-43del
ENST00000680641.1:c.*3265-44_*3265-43del	ENSP00000505237.1:n.*3265-44_*3265-43del
ENST00000680704.1:c.1647-44_1647-43del	ENSP00000506453.1:n.1647-44_1647-43del
ENST00000680872.1:c.*1142-44_*1142-43del	ENSP00000506605.1:n.*1142-44_*1142-43del
ENST00000681050.1:c.229-44_229-43del
ENST00000681096.1:c.1557-44_1557-43del	ENSP00000506052.1:n.1557-44_1557-43del
ENST00000681103.1:c.246-44_246-43del	ENSP00000505892.1:n.246-44_246-43del
ENST00000681160.1:c.1647-44_1647-43del	ENSP00000504905.1:n.1647-44_1647-43del
ENST00000681317.1:c.2015+4073_2015+4074del	ENSP00000505190.1:n.2015+4073_2015+4074del
ENST00000681478.1:c.*1836-44_*1836-43del	ENSP00000505041.1:n.*1836-44_*1836-43del
ENST00000681510.1:c.1866-44_1866-43del	ENSP00000505594.1:n.1866-44_1866-43del
ENST00000681600.1:n.1111-44_1111-43del
ENST00000681661.1:c.*997-44_*997-43del	ENSP00000506596.1:n.*997-44_*997-43del
ENST00000681858.1:c.246-44_246-43del	ENSP00000505044.1:n.246-44_246-43del
ENST00000681917.1:c.1485-44_1485-43del	ENSP00000505944.1:n.1485-44_1485-43del
ENST00000681943.1:c.1734-44_1734-43del	ENSP00000504889.1:n.1734-44_1734-43del
ENST00000681946.1:c.*997-44_*997-43del	ENSP00000505563.1:n.*997-44_*997-43del
ENST00000291074.9:c.1929-44_1929-43del	ENSP00000291074.5:n.1929-44_1929-43del
ENST00000389040.9:c.1819-44_1819-43del	ENSP00000373692.5:n.1819-44_1819-43del
ENST00000401468.7:c.1185-44_1185-43del	ENSP00000384294.3:n.1185-44_1185-43del
ENST00000437048.6:c.2016-44_2016-43del	ENSP00000401435.2:n.2016-44_2016-43del
ENST00000570771.1:n.39_40del
ENST00000571805.5:c.2016-44_2016-43del	ENSP00000459312.1:n.2016-44_2016-43del
ENST00000573028.5:c.*1463-44_*1463-43del	ENSP00000458311.1:n.*1463-44_*1463-43del
ENST00000574029.5:c.207-15316_207-15315del	ENSP00000459159.1:n.207-15316_207-15315del
ENST00000576149.5:n.1786-44_1786-43del
NM_001128159.2:c.2016-44_2016-43del	NP_001121631.1:n.2016-44_2016-43del
NM_018289.3:c.1929-44_1929-43del	NP_060759.2:n.1929-44_1929-43del
XM_011523953.1:c.1422-44_1422-43del	XP_011522255.1:n.1422-44_1422-43del
XR_934061.1:n.2313-44_2313-43del
XR_934133.1:n.291-7435_291-7434del
NM_001366253.1:c.2016-44_2016-43del	NP_001353182.1:n.2016-44_2016-43del
NM_001366254.1:c.1422-44_1422-43del	NP_001353183.1:n.1422-44_1422-43del
XM_017024817.2:c.1866-44_1866-43del	XP_016880306.1:n.1866-44_1866-43del
XM_017024818.1:c.1647-44_1647-43del	XP_016880307.1:n.1647-44_1647-43del
XR_001752553.2:n.2153-44_2153-43del
XR_934061.3:n.2303-44_2303-43del
NM_001128159.3:c.2016-44_2016-43del MANE Select	NP_001121631.1:n.2016-44_2016-43del
NM_001366253.2:c.2016-44_2016-43del	NP_001353182.1:n.2016-44_2016-43del
NM_001366254.2:c.1422-44_1422-43del	NP_001353183.1:n.1422-44_1422-43del
NM_018289.4:c.1929-44_1929-43del	NP_060759.2:n.1929-44_1929-43del