Canonical Allele Identifier: CA16041234
Gene: VPS13B HGNC NCBI

Linked Data

ClinVar Variation Id: 370995
ClinVar RCV Id: RCV000410176
dbSNP Id: rs1057516926

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99431558del , CM000670.2:g.99431558del GRCh38
NC_000008.10:g.100443786del , CM000670.1:g.100443786del GRCh37
NC_000008.9:g.100512962del NCBI36
NG_007098.2:g.423293del , LRG_351:g.423293del

Transcript Alleles

HGVS Amino-acid change
ENST00000355155.6:c.3101del ENSP00000347281.2:p.Pro1034LeufsTer6
ENST00000682145.1:n.2981del
ENST00000682153.1:c.3104del ENSP00000507923.1:p.Pro1035LeufsTer6
ENST00000682234.1:c.3104del ENSP00000508225.1:p.Pro1035LeufsTer6
ENST00000682358.1:n.3174del
ENST00000683334.1:c.3104del ENSP00000507369.1:p.Pro1035LeufsTer6
ENST00000683486.1:n.3170del
ENST00000683619.1:n.3276del
ENST00000357162.7:c.3104del MANE Select ENSP00000349685.2:p.Pro1035LeufsTer6
ENST00000358544.7:c.3104del MANE Plus Clinical ENSP00000351346.2:p.Pro1035LeufsTer6
ENST00000357162.6:c.3104del ENSP00000349685.2:p.Pro1035LeufsTer6
ENST00000358544.6:c.3104del ENSP00000351346.2:p.Pro1035LeufsTer6
ENST00000496144.5:c.3104del ENSP00000430900.1:p.Pro1035LeufsTer6
ENST00000521037.1:n.369del
NM_017890.4:c.3104del , LRG_351t1:c.3104del NP_060360.3:p.Pro1035LeufsTer6
NM_152564.4:c.3104del , LRG_351t2:c.3104del NP_689777.3:p.Pro1035LeufsTer6
XM_005250800.2:c.3104del XP_005250857.1:p.Pro1035LeufsTer6
XM_005250801.3:c.3104del XP_005250858.1:p.Pro1035LeufsTer6
XM_006716510.2:c.3104del XP_006716573.1:p.Pro1035LeufsTer6
XM_011516848.1:c.3101del XP_011515150.1:p.Pro1034LeufsTer6
XM_011516849.1:c.3104del XP_011515151.1:p.Pro1035LeufsTer6
XM_011516850.1:c.2726del XP_011515152.1:p.Pro909LeufsTer6
XM_011516851.1:c.-11del XP_011515153.1:n.-11del
XM_011516852.1:c.-11del XP_011515154.1:n.-11del
XM_011516853.1:c.3104del XP_011515155.1:p.Pro1035LeufsTer6
XM_011516855.1:c.3104del XP_011515157.1:p.Pro1035LeufsTer6
XM_011516856.1:c.3104del XP_011515158.1:p.Pro1035LeufsTer6
XM_011516857.1:c.3104del XP_011515159.1:p.Pro1035LeufsTer6
XM_011516858.1:c.3104del XP_011515160.1:p.Pro1035LeufsTer6
XM_011516860.1:c.3120del XP_011515162.1:p.Cys1041ValfsTer?
XR_928301.1:n.3207del
XR_928302.1:n.3207del
XR_928303.1:n.3207del
XR_928304.1:n.3207del
XM_005250800.3:c.3104del XP_005250857.1:p.Pro1035LeufsTer6
XM_005250801.5:c.3104del XP_005250858.1:p.Pro1035LeufsTer6
XM_006716510.3:c.3104del XP_006716573.1:p.Pro1035LeufsTer6
XM_011516848.2:c.3101del XP_011515150.1:p.Pro1034LeufsTer6
XM_011516849.2:c.3104del XP_011515151.1:p.Pro1035LeufsTer6
XM_011516850.2:c.2726del XP_011515152.1:p.Pro909LeufsTer6
XM_011516851.2:c.-11del XP_011515153.1:n.-11del
XM_011516852.2:c.-11del XP_011515154.1:n.-11del
XM_011516853.2:c.3104del XP_011515155.1:p.Pro1035LeufsTer6
XM_017013109.1:c.2909del XP_016868598.1:p.Pro970LeufsTer6
XM_017013111.1:c.-11del XP_016868600.1:n.-11del
XM_024447074.1:c.1889del XP_024302842.1:p.Pro630LeufsTer6
XR_001745481.1:n.3207del
XR_001745482.2:n.3207del
XR_001745484.2:n.3223del
XR_002956601.1:n.3204del
XR_002956602.1:n.3223del
XR_928302.2:n.3207del
NM_017890.5:c.3104del MANE Plus Clinical NP_060360.3:p.Pro1035LeufsTer6
NM_152564.5:c.3104del MANE Select NP_689777.3:p.Pro1035LeufsTer6