Canonical Allele Identifier: CA16041221
Gene: VPS13B HGNC NCBI

Linked Data

ClinVar Variation Id: 370218
ClinVar RCV Id: RCV000409173
dbSNP Id: rs1057516324
MyVariant Identifiers: chr8:g.100133468del (hg19) chr8:g.99121240del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99121240del , CM000670.2:g.99121240del GRCh38
NC_000008.10:g.100133468del , CM000670.1:g.100133468del GRCh37
NC_000008.9:g.100202644del NCBI36
NG_007098.2:g.112975del , LRG_351:g.112975del

Transcript Alleles

HGVS Amino-acid change
ENST00000355155.6:c.1001del ENSP00000347281.2:p.Tyr334PhefsTer24
ENST00000682145.1:n.1070del
ENST00000682153.1:c.1001del ENSP00000507923.1:p.Tyr334PhefsTer24
ENST00000682234.1:c.1001del ENSP00000508225.1:p.Tyr334PhefsTer24
ENST00000682358.1:n.1071del
ENST00000682853.1:n.1221del
ENST00000683334.1:c.1001del ENSP00000507369.1:p.Tyr334PhefsTer24
ENST00000683486.1:n.1067del
ENST00000683619.1:n.1104del
ENST00000683869.1:n.1082del
ENST00000684269.1:n.1102del
ENST00000684308.1:n.1067del
ENST00000357162.7:c.1001del MANE Select ENSP00000349685.2:p.Tyr334PhefsTer24
ENST00000358544.7:c.1001del MANE Plus Clinical ENSP00000351346.2:p.Tyr334PhefsTer24
ENST00000355155.5:c.1001del ENSP00000347281.1:p.Tyr334PhefsTer24
ENST00000357162.6:c.1001del ENSP00000349685.2:p.Tyr334PhefsTer24
ENST00000358544.6:c.1001del ENSP00000351346.2:p.Tyr334PhefsTer24
ENST00000441350.2:c.1001del ENSP00000398472.2:p.Tyr334PhefsTer24
ENST00000496144.5:c.1001del ENSP00000430900.1:p.Tyr334PhefsTer24
ENST00000524330.1:n.126del
NM_015243.2:c.1001del , LRG_351t3:c.1001del NP_056058.2:p.Tyr334PhefsTer24
NM_017890.4:c.1001del , LRG_351t1:c.1001del NP_060360.3:p.Tyr334PhefsTer24
NM_152564.4:c.1001del , LRG_351t2:c.1001del NP_689777.3:p.Tyr334PhefsTer24
NM_181661.2:c.1001del , LRG_351t4:c.1001del NP_858047.2:p.Tyr334PhefsTer24
NR_047582.1:n.1227del
XM_005250800.2:c.1001del XP_005250857.1:p.Tyr334PhefsTer24
XM_005250801.3:c.1001del XP_005250858.1:p.Tyr334PhefsTer24
XM_006716510.2:c.1001del XP_006716573.1:p.Tyr334PhefsTer24
XM_006716511.2:c.1001del XP_006716574.1:p.Tyr334PhefsTer24
XM_011516848.1:c.1001del XP_011515150.1:p.Tyr334PhefsTer24
XM_011516849.1:c.1001del XP_011515151.1:p.Tyr334PhefsTer24
XM_011516850.1:c.623del XP_011515152.1:p.Tyr208PhefsTer24
XM_011516853.1:c.1001del XP_011515155.1:p.Tyr334PhefsTer24
XM_011516855.1:c.1001del XP_011515157.1:p.Tyr334PhefsTer24
XM_011516856.1:c.1001del XP_011515158.1:p.Tyr334PhefsTer24
XM_011516857.1:c.1001del XP_011515159.1:p.Tyr334PhefsTer24
XM_011516858.1:c.1001del XP_011515160.1:p.Tyr334PhefsTer24
XM_011516859.1:c.1001del XP_011515161.1:p.Tyr334PhefsTer24
XM_011516860.1:c.1001del XP_011515162.1:p.Tyr334PhefsTer24
XM_011516861.1:c.1001del XP_011515163.1:p.Tyr334PhefsTer24
XM_011516862.1:c.1001del XP_011515164.1:p.Tyr334PhefsTer24
XM_011516863.1:c.1001del XP_011515165.1:p.Tyr334PhefsTer24
XM_011516864.1:c.1001del XP_011515166.1:p.Tyr334PhefsTer24
XM_011516865.1:c.1001del XP_011515167.1:p.Tyr334PhefsTer24
XM_011516866.1:c.1001del XP_011515168.1:p.Tyr334PhefsTer24
XR_928301.1:n.1104del
XR_928302.1:n.1104del
XR_928303.1:n.1104del
XR_928304.1:n.1104del
XM_005250800.3:c.1001del XP_005250857.1:p.Tyr334PhefsTer24
XM_005250801.5:c.1001del XP_005250858.1:p.Tyr334PhefsTer24
XM_006716510.3:c.1001del XP_006716573.1:p.Tyr334PhefsTer24
XM_011516848.2:c.1001del XP_011515150.1:p.Tyr334PhefsTer24
XM_011516849.2:c.1001del XP_011515151.1:p.Tyr334PhefsTer24
XM_011516850.2:c.623del XP_011515152.1:p.Tyr208PhefsTer24
XM_011516853.2:c.1001del XP_011515155.1:p.Tyr334PhefsTer24
XM_011516859.2:c.1001del XP_011515161.1:p.Tyr334PhefsTer24
XM_011516866.2:c.1001del XP_011515168.1:p.Tyr334PhefsTer24
XM_017013109.1:c.1001del XP_016868598.1:p.Tyr334PhefsTer24
XM_024447074.1:c.-327del XP_024302842.1:n.-327del
XM_024447075.1:c.1001del XP_024302843.1:p.Tyr334PhefsTer24
XR_001745481.1:n.1104del
XR_001745482.2:n.1104del
XR_001745484.2:n.1104del
XR_002956601.1:n.1104del
XR_002956602.1:n.1104del
XR_928302.2:n.1104del
NM_015243.3:c.1001del NP_056058.2:p.Tyr334PhefsTer24
NM_017890.5:c.1001del MANE Plus Clinical NP_060360.3:p.Tyr334PhefsTer24
NM_152564.5:c.1001del MANE Select NP_689777.3:p.Tyr334PhefsTer24
NM_181661.3:c.1001del NP_858047.2:p.Tyr334PhefsTer24
NR_047582.2:n.1219del
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