Canonical Allele Identifier: CA16041275
Gene: VPS13B HGNC NCBI

Linked Data

ClinVar Variation Id: 370117
ClinVar RCV Id: RCV000411609
dbSNP Id: rs1057516245

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99868336del , CM000670.2:g.99868336del GRCh38
NC_000008.10:g.100880564del , CM000670.1:g.100880564del GRCh37
NC_000008.9:g.100949740del NCBI36
NG_007098.2:g.860071del , LRG_351:g.860071del

Transcript Alleles

HGVS Amino-acid change
ENST00000682153.1:c.*432del ENSP00000507923.1:n.*432del
ENST00000682358.1:n.11408del
ENST00000683334.1:c.*7020del ENSP00000507369.1:n.*7020del
ENST00000357162.7:c.11263del MANE Select ENSP00000349685.2:p.Thr3755HisfsTer?
ENST00000358544.7:c.11338del MANE Plus Clinical ENSP00000351346.2:p.Thr3780HisfsTer?
ENST00000357162.6:c.11263del ENSP00000349685.2:p.Thr3755HisfsTer?
ENST00000358544.6:c.11338del ENSP00000351346.2:p.Thr3780HisfsTer?
ENST00000493587.1:n.280del
NM_017890.4:c.11338del , LRG_351t1:c.11338del NP_060360.3:p.Thr3780HisfsTer?
NM_152564.4:c.11263del , LRG_351t2:c.11263del NP_689777.3:p.Thr3755HisfsTer?
XM_005250800.2:c.11338del XP_005250857.1:p.Thr3780HisfsTer?
XM_005250801.3:c.11338del XP_005250858.1:p.Thr3780HisfsTer?
XM_011516848.1:c.11335del XP_011515150.1:p.Thr3779HisfsTer?
XM_011516849.1:c.11260del XP_011515151.1:p.Thr3754HisfsTer?
XM_011516850.1:c.10960del XP_011515152.1:p.Thr3654HisfsTer?
XM_011516851.1:c.8224del XP_011515153.1:p.Thr2742HisfsTer?
XM_011516852.1:c.8224del XP_011515154.1:p.Thr2742HisfsTer?
XM_011516854.1:c.7117del XP_011515156.1:p.Thr2373HisfsTer?
XM_005250800.3:c.11338del XP_005250857.1:p.Thr3780HisfsTer?
XM_005250801.5:c.11338del XP_005250858.1:p.Thr3780HisfsTer?
XM_011516848.2:c.11335del XP_011515150.1:p.Thr3779HisfsTer?
XM_011516849.2:c.11260del XP_011515151.1:p.Thr3754HisfsTer?
XM_011516850.2:c.10960del XP_011515152.1:p.Thr3654HisfsTer?
XM_011516851.2:c.8224del XP_011515153.1:p.Thr2742HisfsTer?
XM_011516852.2:c.8224del XP_011515154.1:p.Thr2742HisfsTer?
XM_011516854.2:c.7117del XP_011515156.1:p.Thr2373HisfsTer?
XM_017013109.1:c.11143del XP_016868598.1:p.Thr3715HisfsTer?
XM_017013111.1:c.8224del XP_016868600.1:p.Thr2742HisfsTer?
XM_017013112.1:c.6895del XP_016868601.1:p.Thr2299HisfsTer?
XM_024447074.1:c.10123del XP_024302842.1:p.Thr3375HisfsTer?
NM_017890.5:c.11338del MANE Plus Clinical NP_060360.3:p.Thr3780HisfsTer?
NM_152564.5:c.11263del MANE Select NP_689777.3:p.Thr3755HisfsTer?