Canonical Allele Identifier: CA652586898
Gene: VPS13B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99819753_99819754del , CM000670.2:g.99819753_99819754del GRCh38
NC_000008.10:g.100831981_100831982del , CM000670.1:g.100831981_100831982del GRCh37
NC_000008.9:g.100901157_100901158del NCBI36
NG_007098.2:g.811488_811489del , LRG_351:g.811488_811489del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682153.1:c.8868-168_8868-167del ENSP00000507923.1:n.8868-168_8868-167del
ENST00000682358.1:n.8938-168_8938-167del
ENST00000683334.1:c.*4550-168_*4550-167del ENSP00000507369.1:n.*4550-168_*4550-167del
ENST00000357162.7:c.8793-168_8793-167del MANE Select ENSP00000349685.2:n.8793-168_8793-167del
ENST00000358544.7:c.8868-168_8868-167del MANE Plus Clinical ENSP00000351346.2:n.8868-168_8868-167del
ENST00000357162.6:c.8793-168_8793-167del ENSP00000349685.2:n.8793-168_8793-167del
ENST00000358544.6:c.8868-168_8868-167del ENSP00000351346.2:n.8868-168_8868-167del
NM_017890.4:c.8868-168_8868-167del , LRG_351t1:c.8868-168_8868-167del NP_060360.3:n.8868-168_8868-167del
NM_152564.4:c.8793-168_8793-167del , LRG_351t2:c.8793-168_8793-167del NP_689777.3:n.8793-168_8793-167del
XM_005250800.2:c.8868-168_8868-167del XP_005250857.1:n.8868-168_8868-167del
XM_005250801.3:c.8868-168_8868-167del XP_005250858.1:n.8868-168_8868-167del
XM_011516848.1:c.8865-168_8865-167del XP_011515150.1:n.8865-168_8865-167del
XM_011516849.1:c.8790-168_8790-167del XP_011515151.1:n.8790-168_8790-167del
XM_011516850.1:c.8490-168_8490-167del XP_011515152.1:n.8490-168_8490-167del
XM_011516851.1:c.5754-168_5754-167del XP_011515153.1:n.5754-168_5754-167del
XM_011516852.1:c.5754-168_5754-167del XP_011515154.1:n.5754-168_5754-167del
XM_011516854.1:c.4647-168_4647-167del XP_011515156.1:n.4647-168_4647-167del
XM_005250800.3:c.8868-168_8868-167del XP_005250857.1:n.8868-168_8868-167del
XM_005250801.5:c.8868-168_8868-167del XP_005250858.1:n.8868-168_8868-167del
XM_011516848.2:c.8865-168_8865-167del XP_011515150.1:n.8865-168_8865-167del
XM_011516849.2:c.8790-168_8790-167del XP_011515151.1:n.8790-168_8790-167del
XM_011516850.2:c.8490-168_8490-167del XP_011515152.1:n.8490-168_8490-167del
XM_011516851.2:c.5754-168_5754-167del XP_011515153.1:n.5754-168_5754-167del
XM_011516852.2:c.5754-168_5754-167del XP_011515154.1:n.5754-168_5754-167del
XM_011516854.2:c.4647-168_4647-167del XP_011515156.1:n.4647-168_4647-167del
XM_017013109.1:c.8673-168_8673-167del XP_016868598.1:n.8673-168_8673-167del
XM_017013111.1:c.5754-168_5754-167del XP_016868600.1:n.5754-168_5754-167del
XM_017013112.1:c.4425-168_4425-167del XP_016868601.1:n.4425-168_4425-167del
XM_024447074.1:c.7653-168_7653-167del XP_024302842.1:n.7653-168_7653-167del
NM_017890.5:c.8868-168_8868-167del MANE Plus Clinical NP_060360.3:n.8868-168_8868-167del
NM_152564.5:c.8793-168_8793-167del MANE Select NP_689777.3:n.8793-168_8793-167del