Canonical Allele Identifier: CA16041236
Gene: VPS13B HGNC NCBI

Linked Data

ClinVar Variation Id: 370645
ClinVar RCV Id: RCV000410674
dbSNP Id: rs1057516653

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99501718dup , CM000670.2:g.99501718dup GRCh38
NC_000008.10:g.100513946dup , CM000670.1:g.100513946dup GRCh37
NC_000008.9:g.100583122dup NCBI36
NG_007098.2:g.493453dup , LRG_351:g.493453dup

Transcript Alleles

HGVS Amino-acid change
ENST00000355155.6:c.3899dup ENSP00000347281.2:p.Phe1301IlefsTer13
ENST00000682145.1:n.3779dup
ENST00000682153.1:c.3902dup ENSP00000507923.1:p.Phe1302IlefsTer13
ENST00000682234.1:c.*453dup ENSP00000508225.1:n.*453dup
ENST00000682358.1:n.3972dup
ENST00000683334.1:c.3902dup ENSP00000507369.1:p.Phe1302IlefsTer13
ENST00000683619.1:n.4074dup
ENST00000357162.7:c.3902dup MANE Select ENSP00000349685.2:p.Phe1302IlefsTer13
ENST00000358544.7:c.3902dup MANE Plus Clinical ENSP00000351346.2:p.Phe1302IlefsTer13
ENST00000357162.6:c.3902dup ENSP00000349685.2:p.Phe1302IlefsTer13
ENST00000358544.6:c.3902dup ENSP00000351346.2:p.Phe1302IlefsTer13
ENST00000496144.5:c.3902dup ENSP00000430900.1:p.Phe1302IlefsTer13
NM_017890.4:c.3902dup , LRG_351t1:c.3902dup NP_060360.3:p.Phe1302IlefsTer13
NM_152564.4:c.3902dup , LRG_351t2:c.3902dup NP_689777.3:p.Phe1302IlefsTer13
XM_005250800.2:c.3902dup XP_005250857.1:p.Phe1302IlefsTer13
XM_005250801.3:c.3902dup XP_005250858.1:p.Phe1302IlefsTer13
XM_006716510.2:c.3902dup XP_006716573.1:p.Phe1302IlefsTer13
XM_011516848.1:c.3899dup XP_011515150.1:p.Phe1301IlefsTer13
XM_011516849.1:c.3902dup XP_011515151.1:p.Phe1302IlefsTer13
XM_011516850.1:c.3524dup XP_011515152.1:p.Phe1176IlefsTer13
XM_011516851.1:c.788dup XP_011515153.1:p.Phe264IlefsTer13
XM_011516852.1:c.788dup XP_011515154.1:p.Phe264IlefsTer13
XM_011516853.1:c.3902dup XP_011515155.1:p.Phe1302IlefsTer13
XM_011516855.1:c.3902dup XP_011515157.1:p.Phe1302IlefsTer13
XM_011516856.1:c.3902dup XP_011515158.1:p.Phe1302IlefsTer13
XM_011516857.1:c.3902dup XP_011515159.1:p.Phe1302IlefsTer13
XM_011516858.1:c.3902dup XP_011515160.1:p.Phe1302IlefsTer13
XR_928301.1:n.4005dup
XR_928302.1:n.4005dup
XR_928303.1:n.4005dup
XR_928304.1:n.4005dup
XM_005250800.3:c.3902dup XP_005250857.1:p.Phe1302IlefsTer13
XM_005250801.5:c.3902dup XP_005250858.1:p.Phe1302IlefsTer13
XM_006716510.3:c.3902dup XP_006716573.1:p.Phe1302IlefsTer13
XM_011516848.2:c.3899dup XP_011515150.1:p.Phe1301IlefsTer13
XM_011516849.2:c.3902dup XP_011515151.1:p.Phe1302IlefsTer13
XM_011516850.2:c.3524dup XP_011515152.1:p.Phe1176IlefsTer13
XM_011516851.2:c.788dup XP_011515153.1:p.Phe264IlefsTer13
XM_011516852.2:c.788dup XP_011515154.1:p.Phe264IlefsTer13
XM_011516853.2:c.3902dup XP_011515155.1:p.Phe1302IlefsTer13
XM_011516854.2:c.-287dup XP_011515156.1:n.-287dup
XM_017013109.1:c.3707dup XP_016868598.1:p.Phe1237IlefsTer13
XM_017013111.1:c.788dup XP_016868600.1:p.Phe264IlefsTer13
XM_017013112.1:c.-609dup XP_016868601.1:n.-609dup
XM_024447074.1:c.2687dup XP_024302842.1:p.Phe897IlefsTer13
XR_001745481.1:n.4005dup
XR_001745482.2:n.4005dup
XR_001745484.2:n.4021dup
XR_002956601.1:n.4002dup
XR_002956602.1:n.4021dup
XR_928302.2:n.4005dup
NM_017890.5:c.3902dup MANE Plus Clinical NP_060360.3:p.Phe1302IlefsTer13
NM_152564.5:c.3902dup MANE Select NP_689777.3:p.Phe1302IlefsTer13