Canonical Allele Identifier: CA2781471221
Gene: VPS13B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99556436_99556442del , CM000670.2:g.99556436_99556442del GRCh38
NC_000008.10:g.100568664_100568670del , CM000670.1:g.100568664_100568670del GRCh37
NC_000008.9:g.100637840_100637846del NCBI36
NG_007098.2:g.548171_548177del , LRG_351:g.548171_548177del

Transcript Alleles

HGVS Amino-acid Change
NM_152564.5:c.4746-14_4746-8del MANE Select NP_689777.3:n.4746-14_4746-8del
ENST00000357162.7:c.4746-14_4746-8del MANE Select ENSP00000349685.2:n.4746-14_4746-8del
NM_017890.5:c.4821-14_4821-8del MANE Plus Clinical NP_060360.3:n.4821-14_4821-8del
ENST00000358544.7:c.4821-14_4821-8del MANE Plus Clinical ENSP00000351346.2:n.4821-14_4821-8del
NM_017890.4:c.4821-14_4821-8del , LRG_351t1:c.4821-14_4821-8del NP_060360.3:n.4821-14_4821-8del
NM_152564.4:c.4746-14_4746-8del , LRG_351t2:c.4746-14_4746-8del NP_689777.3:n.4746-14_4746-8del
ENST00000357162.6:c.4746-14_4746-8del ENSP00000349685.2:n.4746-14_4746-8del
ENST00000358544.6:c.4821-14_4821-8del ENSP00000351346.2:n.4821-14_4821-8del
ENST00000496144.5:c.*604-14_*604-8del ENSP00000430900.1:n.*604-14_*604-8del
ENST00000521559.1:c.113-19222_113-19216del
ENST00000682153.1:c.4821-14_4821-8del ENSP00000507923.1:n.4821-14_4821-8del
ENST00000682358.1:n.4891-14_4891-8del
ENST00000683334.1:c.*503-14_*503-8del ENSP00000507369.1:n.*503-14_*503-8del
XM_005250800.2:c.4821-14_4821-8del XP_005250857.1:n.4821-14_4821-8del
XM_005250800.3:c.4821-14_4821-8del XP_005250857.1:n.4821-14_4821-8del
XM_005250801.3:c.4821-14_4821-8del XP_005250858.1:n.4821-14_4821-8del
XM_005250801.5:c.4821-14_4821-8del XP_005250858.1:n.4821-14_4821-8del
XM_006716510.2:c.4821-14_4821-8del XP_006716573.1:n.4821-14_4821-8del
XM_006716510.3:c.4821-14_4821-8del XP_006716573.1:n.4821-14_4821-8del
XM_011516848.1:c.4818-14_4818-8del XP_011515150.1:n.4818-14_4818-8del
XM_011516848.2:c.4818-14_4818-8del XP_011515150.1:n.4818-14_4818-8del
XM_011516849.1:c.4743-14_4743-8del XP_011515151.1:n.4743-14_4743-8del
XM_011516849.2:c.4743-14_4743-8del XP_011515151.1:n.4743-14_4743-8del
XM_011516850.1:c.4443-14_4443-8del XP_011515152.1:n.4443-14_4443-8del
XM_011516850.2:c.4443-14_4443-8del XP_011515152.1:n.4443-14_4443-8del
XM_011516851.1:c.1707-14_1707-8del XP_011515153.1:n.1707-14_1707-8del
XM_011516851.2:c.1707-14_1707-8del XP_011515153.1:n.1707-14_1707-8del
XM_011516852.1:c.1707-14_1707-8del XP_011515154.1:n.1707-14_1707-8del
XM_011516852.2:c.1707-14_1707-8del XP_011515154.1:n.1707-14_1707-8del
XM_011516853.1:c.4821-14_4821-8del XP_011515155.1:n.4821-14_4821-8del
XM_011516853.2:c.4821-14_4821-8del XP_011515155.1:n.4821-14_4821-8del
XM_011516854.1:c.600-14_600-8del XP_011515156.1:n.600-14_600-8del
XM_011516854.2:c.600-14_600-8del XP_011515156.1:n.600-14_600-8del
XM_017013109.1:c.4626-14_4626-8del XP_016868598.1:n.4626-14_4626-8del
XM_017013111.1:c.1707-14_1707-8del XP_016868600.1:n.1707-14_1707-8del
XM_017013112.1:c.378-14_378-8del XP_016868601.1:n.378-14_378-8del
XM_024447074.1:c.3606-14_3606-8del XP_024302842.1:n.3606-14_3606-8del
XR_001745482.2:n.4782-14_4782-8del
XR_928301.1:n.4924-14_4924-8del
XR_928302.1:n.4924-14_4924-8del
XR_928302.2:n.4924-14_4924-8del
XR_928303.1:n.4924-14_4924-8del
XR_928304.1:n.4991-14_4991-8del