Canonical Allele Identifier: CA16043435
Gene: VPS13B HGNC NCBI

Linked Data

ClinVar Variation Id: 374163
dbSNP Id: rs1057518939

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99511424del , CM000670.2:g.99511424del GRCh38
NC_000008.10:g.100523652del , CM000670.1:g.100523652del GRCh37
NC_000008.9:g.100592828del NCBI36
NG_007098.2:g.503159del , LRG_351:g.503159del

Transcript Alleles

HGVS Amino-acid change
ENST00000682153.1:c.4620del ENSP00000507923.1:p.Ser1541ProfsTer6
ENST00000682358.1:n.4690del
ENST00000683334.1:c.*302del ENSP00000507369.1:n.*302del
ENST00000357162.7:c.4545del MANE Select ENSP00000349685.2:p.Ser1516ProfsTer6
ENST00000358544.7:c.4620del MANE Plus Clinical ENSP00000351346.2:p.Ser1541ProfsTer6
ENST00000357162.6:c.4545del ENSP00000349685.2:p.Ser1516ProfsTer6
ENST00000358544.6:c.4620del ENSP00000351346.2:p.Ser1541ProfsTer6
ENST00000496144.5:c.*403del ENSP00000430900.1:n.*403del
NM_017890.4:c.4620del , LRG_351t1:c.4620del NP_060360.3:p.Ser1541ProfsTer6
NM_152564.4:c.4545del , LRG_351t2:c.4545del NP_689777.3:p.Ser1516ProfsTer6
XM_005250800.2:c.4620del XP_005250857.1:p.Ser1541ProfsTer6
XM_005250801.3:c.4620del XP_005250858.1:p.Ser1541ProfsTer6
XM_006716510.2:c.4620del XP_006716573.1:p.Ser1541ProfsTer6
XM_011516848.1:c.4617del XP_011515150.1:p.Ser1540ProfsTer6
XM_011516849.1:c.4542del XP_011515151.1:p.Ser1515ProfsTer6
XM_011516850.1:c.4242del XP_011515152.1:p.Ser1415ProfsTer6
XM_011516851.1:c.1506del XP_011515153.1:p.Ser503ProfsTer6
XM_011516852.1:c.1506del XP_011515154.1:p.Ser503ProfsTer6
XM_011516853.1:c.4620del XP_011515155.1:p.Ser1541ProfsTer6
XM_011516854.1:c.399del XP_011515156.1:p.Ser134ProfsTer6
XR_928301.1:n.4723del
XR_928302.1:n.4723del
XR_928303.1:n.4723del
XR_928304.1:n.4790del
XM_005250800.3:c.4620del XP_005250857.1:p.Ser1541ProfsTer6
XM_005250801.5:c.4620del XP_005250858.1:p.Ser1541ProfsTer6
XM_006716510.3:c.4620del XP_006716573.1:p.Ser1541ProfsTer6
XM_011516848.2:c.4617del XP_011515150.1:p.Ser1540ProfsTer6
XM_011516849.2:c.4542del XP_011515151.1:p.Ser1515ProfsTer6
XM_011516850.2:c.4242del XP_011515152.1:p.Ser1415ProfsTer6
XM_011516851.2:c.1506del XP_011515153.1:p.Ser503ProfsTer6
XM_011516852.2:c.1506del XP_011515154.1:p.Ser503ProfsTer6
XM_011516853.2:c.4620del XP_011515155.1:p.Ser1541ProfsTer6
XM_011516854.2:c.399del XP_011515156.1:p.Ser134ProfsTer6
XM_017013109.1:c.4425del XP_016868598.1:p.Ser1476ProfsTer6
XM_017013111.1:c.1506del XP_016868600.1:p.Ser503ProfsTer6
XM_017013112.1:c.177del XP_016868601.1:p.Ser60ProfsTer6
XM_024447074.1:c.3405del XP_024302842.1:p.Ser1136ProfsTer6
XR_001745482.2:n.4581del
XR_002956601.1:n.4787del
XR_928302.2:n.4723del
NM_017890.5:c.4620del MANE Plus Clinical NP_060360.3:p.Ser1541ProfsTer6
NM_152564.5:c.4545del MANE Select NP_689777.3:p.Ser1516ProfsTer6