Canonical Allele Identifier: CA264072
Community Standard Title: NM_152564.5(VPS13B):c.4259del (p.Gln1420ArgfsTer7)
Gene: VPS13B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99511138del , CM000670.2:g.99511138del GRCh38
NC_000008.10:g.100523366del , CM000670.1:g.100523366del GRCh37
NC_000008.9:g.100592542del NCBI36
NG_007098.2:g.502873del , LRG_351:g.502873del

Transcript Alleles

HGVS Amino-acid Change
NM_152564.5:c.4259del MANE Select NP_689777.3:p.Gln1420ArgfsTer7
ENST00000357162.7:c.4259del MANE Select ENSP00000349685.2:p.Gln1420ArgfsTer7
NM_017890.5:c.4334del MANE Plus Clinical NP_060360.3:p.Gln1445ArgfsTer7
ENST00000358544.7:c.4334del MANE Plus Clinical ENSP00000351346.2:p.Gln1445ArgfsTer7
NM_017890.4:c.4334del , LRG_351t1:c.4334del NP_060360.3:p.Gln1445ArgfsTer7
NM_152564.4:c.4259del , LRG_351t2:c.4259del NP_689777.3:p.Gln1420ArgfsTer7
ENST00000355155.6:c.*109del ENSP00000347281.2:n.*109del
ENST00000357162.6:c.4259del ENSP00000349685.2:p.Gln1420ArgfsTer7
ENST00000358544.6:c.4334del ENSP00000351346.2:p.Gln1445ArgfsTer7
ENST00000496144.5:c.*117del ENSP00000430900.1:n.*117del
ENST00000682153.1:c.4334del ENSP00000507923.1:p.Gln1445ArgfsTer7
ENST00000682358.1:n.4404del
ENST00000683334.1:c.*16del ENSP00000507369.1:n.*16del
XM_005250800.2:c.4334del XP_005250857.1:p.Gln1445ArgfsTer7
XM_005250800.3:c.4334del XP_005250857.1:p.Gln1445ArgfsTer7
XM_005250801.3:c.4334del XP_005250858.1:p.Gln1445ArgfsTer7
XM_005250801.5:c.4334del XP_005250858.1:p.Gln1445ArgfsTer7
XM_006716510.2:c.4334del XP_006716573.1:p.Gln1445ArgfsTer7
XM_006716510.3:c.4334del XP_006716573.1:p.Gln1445ArgfsTer7
XM_011516848.1:c.4331del XP_011515150.1:p.Gln1444ArgfsTer7
XM_011516848.2:c.4331del XP_011515150.1:p.Gln1444ArgfsTer7
XM_011516849.1:c.4256del XP_011515151.1:p.Gln1419ArgfsTer7
XM_011516849.2:c.4256del XP_011515151.1:p.Gln1419ArgfsTer7
XM_011516850.1:c.3956del XP_011515152.1:p.Gln1319ArgfsTer7
XM_011516850.2:c.3956del XP_011515152.1:p.Gln1319ArgfsTer7
XM_011516851.1:c.1220del XP_011515153.1:p.Gln407ArgfsTer7
XM_011516851.2:c.1220del XP_011515153.1:p.Gln407ArgfsTer7
XM_011516852.1:c.1220del XP_011515154.1:p.Gln407ArgfsTer7
XM_011516852.2:c.1220del XP_011515154.1:p.Gln407ArgfsTer7
XM_011516853.1:c.4334del XP_011515155.1:p.Gln1445ArgfsTer7
XM_011516853.2:c.4334del XP_011515155.1:p.Gln1445ArgfsTer7
XM_011516854.1:c.113del XP_011515156.1:p.Gln38ArgfsTer7
XM_011516854.2:c.113del XP_011515156.1:p.Gln38ArgfsTer7
XM_011516857.1:c.*16del XP_011515159.1:n.*16del
XM_017013109.1:c.4139del XP_016868598.1:p.Gln1380ArgfsTer7
XM_017013111.1:c.1220del XP_016868600.1:p.Gln407ArgfsTer7
XM_017013112.1:c.-110del XP_016868601.1:n.-110del
XM_024447074.1:c.3119del XP_024302842.1:p.Gln1040ArgfsTer7
XR_001745481.1:n.4404del
XR_001745482.2:n.4295del
XR_001745484.2:n.4378del
XR_002956601.1:n.4501del
XR_002956602.1:n.4453del
XR_928301.1:n.4437del
XR_928302.1:n.4437del
XR_928302.2:n.4437del
XR_928303.1:n.4437del
XR_928304.1:n.4504del