Canonical Allele Identifier: CA264093
Gene: VPS13B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99577553_99577570del , CM000670.2:g.99577553_99577570del GRCh38
NC_000008.10:g.100589781_100589798del , CM000670.1:g.100589781_100589798del GRCh37
NC_000008.9:g.100658957_100658974del NCBI36
NG_007098.2:g.569288_569305del , LRG_351:g.569288_569305del

Transcript Alleles

HGVS Amino-acid Change
NM_152564.5:c.5140_5157del MANE Select NP_689777.3:p.Ser1714_Gln1719del
ENST00000357162.7:c.5140_5157del MANE Select ENSP00000349685.2:p.Ser1714_Gln1719del
NM_017890.5:c.5215_5232del MANE Plus Clinical NP_060360.3:p.Ser1739_Gln1744del
ENST00000358544.7:c.5215_5232del MANE Plus Clinical ENSP00000351346.2:p.Ser1739_Gln1744del
NM_017890.4:c.5215_5232del , LRG_351t1:c.5215_5232del NP_060360.3:p.Ser1739_Gln1744del
NM_152564.4:c.5140_5157del , LRG_351t2:c.5140_5157del NP_689777.3:p.Ser1714_Gln1719del
ENST00000357162.6:c.5140_5157del ENSP00000349685.2:p.Ser1714_Gln1719del
ENST00000358544.6:c.5215_5232del ENSP00000351346.2:p.Ser1739_Gln1744del
ENST00000496144.5:c.*998_*1015del ENSP00000430900.1:n.*998_*1015del
ENST00000521559.1:c.303_320del
ENST00000682153.1:c.5215_5232del ENSP00000507923.1:p.Ser1739_Gln1744del
ENST00000682358.1:n.5285_5302del
ENST00000683334.1:c.*897_*914del ENSP00000507369.1:n.*897_*914del
XM_005250800.2:c.5215_5232del XP_005250857.1:p.Ser1739_Gln1744del
XM_005250800.3:c.5215_5232del XP_005250857.1:p.Ser1739_Gln1744del
XM_005250801.3:c.5215_5232del XP_005250858.1:p.Ser1739_Gln1744del
XM_005250801.5:c.5215_5232del XP_005250858.1:p.Ser1739_Gln1744del
XM_006716510.2:c.5215_5232del XP_006716573.1:p.Ser1739_Gln1744del
XM_006716510.3:c.5215_5232del XP_006716573.1:p.Ser1739_Gln1744del
XM_011516848.1:c.5212_5229del XP_011515150.1:p.Ser1738_Gln1743del
XM_011516848.2:c.5212_5229del XP_011515150.1:p.Ser1738_Gln1743del
XM_011516849.1:c.5137_5154del XP_011515151.1:p.Ser1713_Gln1718del
XM_011516849.2:c.5137_5154del XP_011515151.1:p.Ser1713_Gln1718del
XM_011516850.1:c.4837_4854del XP_011515152.1:p.Ser1613_Gln1618del
XM_011516850.2:c.4837_4854del XP_011515152.1:p.Ser1613_Gln1618del
XM_011516851.1:c.2101_2118del XP_011515153.1:p.Ser701_Gln706del
XM_011516851.2:c.2101_2118del XP_011515153.1:p.Ser701_Gln706del
XM_011516852.1:c.2101_2118del XP_011515154.1:p.Ser701_Gln706del
XM_011516852.2:c.2101_2118del XP_011515154.1:p.Ser701_Gln706del
XM_011516853.1:c.5215_5232del XP_011515155.1:p.Ser1739_Gln1744del
XM_011516853.2:c.5215_5232del XP_011515155.1:p.Ser1739_Gln1744del
XM_011516854.1:c.994_1011del XP_011515156.1:p.Ser332_Gln337del
XM_011516854.2:c.994_1011del XP_011515156.1:p.Ser332_Gln337del
XM_017013109.1:c.5020_5037del XP_016868598.1:p.Ser1674_Gln1679del
XM_017013111.1:c.2101_2118del XP_016868600.1:p.Ser701_Gln706del
XM_017013112.1:c.772_789del XP_016868601.1:p.Ser258_Gln263del
XM_024447074.1:c.4000_4017del XP_024302842.1:p.Ser1334_Gln1339del
XR_001745482.2:n.5176_5193del
XR_928301.1:n.5318_5335del
XR_928302.1:n.5318_5335del
XR_928302.2:n.5318_5335del
XR_928303.1:n.5318_5335del
XR_928304.1:n.5385_5402del