Canonical Allele Identifier: CA16041232
Gene: VPS13B HGNC NCBI

Linked Data

ClinVar Variation Id: 370665
ClinVar RCV Id: RCV000410992
dbSNP Id: rs1057516670

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99391649_99391667dup , CM000670.2:g.99391649_99391667dup GRCh38
NC_000008.10:g.100403877_100403895dup , CM000670.1:g.100403877_100403895dup GRCh37
NC_000008.9:g.100473053_100473071dup NCBI36
NG_007098.2:g.383384_383402dup , LRG_351:g.383384_383402dup

Transcript Alleles

HGVS Amino-acid change
ENST00000355155.6:c.3024_3042dup ENSP00000347281.2:p.Tyr1015IlefsTer6
ENST00000682145.1:n.2904_2922dup
ENST00000682153.1:c.3027_3045dup ENSP00000507923.1:p.Tyr1016IlefsTer6
ENST00000682234.1:c.3027_3045dup ENSP00000508225.1:p.Tyr1016IlefsTer6
ENST00000682358.1:n.3097_3115dup
ENST00000683334.1:c.3027_3045dup ENSP00000507369.1:p.Tyr1016IlefsTer6
ENST00000683486.1:n.3093_3111dup
ENST00000683619.1:n.3199_3217dup
ENST00000683869.1:n.3108_3126dup
ENST00000357162.7:c.3027_3045dup MANE Select ENSP00000349685.2:p.Tyr1016IlefsTer6
ENST00000358544.7:c.3027_3045dup MANE Plus Clinical ENSP00000351346.2:p.Tyr1016IlefsTer6
ENST00000357162.6:c.3027_3045dup ENSP00000349685.2:p.Tyr1016IlefsTer6
ENST00000358544.6:c.3027_3045dup ENSP00000351346.2:p.Tyr1016IlefsTer6
ENST00000496144.5:c.3027_3045dup ENSP00000430900.1:p.Tyr1016IlefsTer6
ENST00000521037.1:n.198_216dup
ENST00000522802.5:n.249_267dup
NM_017890.4:c.3027_3045dup , LRG_351t1:c.3027_3045dup NP_060360.3:p.Tyr1016IlefsTer6
NM_152564.4:c.3027_3045dup , LRG_351t2:c.3027_3045dup NP_689777.3:p.Tyr1016IlefsTer6
XM_005250800.2:c.3027_3045dup XP_005250857.1:p.Tyr1016IlefsTer6
XM_005250801.3:c.3027_3045dup XP_005250858.1:p.Tyr1016IlefsTer6
XM_006716510.2:c.3027_3045dup XP_006716573.1:p.Tyr1016IlefsTer6
XM_011516848.1:c.3024_3042dup XP_011515150.1:p.Tyr1015IlefsTer6
XM_011516849.1:c.3027_3045dup XP_011515151.1:p.Tyr1016IlefsTer6
XM_011516850.1:c.2649_2667dup XP_011515152.1:p.Tyr890IlefsTer6
XM_011516851.1:c.-104_-86dup XP_011515153.1:n.-104_-86dup
XM_011516853.1:c.3027_3045dup XP_011515155.1:p.Tyr1016IlefsTer6
XM_011516855.1:c.3027_3045dup XP_011515157.1:p.Tyr1016IlefsTer6
XM_011516856.1:c.3027_3045dup XP_011515158.1:p.Tyr1016IlefsTer6
XM_011516857.1:c.3027_3045dup XP_011515159.1:p.Tyr1016IlefsTer6
XM_011516858.1:c.3027_3045dup XP_011515160.1:p.Tyr1016IlefsTer6
XM_011516859.1:c.3027_3045dup XP_011515161.1:p.Tyr1016IlefsTer6
XM_011516860.1:c.3027_3045dup XP_011515162.1:p.Tyr1016IlefsTer6
XM_011516861.1:c.3027_3045dup XP_011515163.1:p.Tyr1016IlefsTer6
XR_928301.1:n.3130_3148dup
XR_928302.1:n.3130_3148dup
XR_928303.1:n.3130_3148dup
XR_928304.1:n.3130_3148dup
XM_005250800.3:c.3027_3045dup XP_005250857.1:p.Tyr1016IlefsTer6
XM_005250801.5:c.3027_3045dup XP_005250858.1:p.Tyr1016IlefsTer6
XM_006716510.3:c.3027_3045dup XP_006716573.1:p.Tyr1016IlefsTer6
XM_011516848.2:c.3024_3042dup XP_011515150.1:p.Tyr1015IlefsTer6
XM_011516849.2:c.3027_3045dup XP_011515151.1:p.Tyr1016IlefsTer6
XM_011516850.2:c.2649_2667dup XP_011515152.1:p.Tyr890IlefsTer6
XM_011516851.2:c.-104_-86dup XP_011515153.1:n.-104_-86dup
XM_011516853.2:c.3027_3045dup XP_011515155.1:p.Tyr1016IlefsTer6
XM_011516859.2:c.3027_3045dup XP_011515161.1:p.Tyr1016IlefsTer6
XM_017013109.1:c.2832_2850dup XP_016868598.1:p.Tyr951IlefsTer6
XM_024447074.1:c.1812_1830dup XP_024302842.1:p.Tyr611IlefsTer6
XM_024447075.1:c.3027_3045dup XP_024302843.1:p.Tyr1016IlefsTer6
XR_001745481.1:n.3130_3148dup
XR_001745482.2:n.3130_3148dup
XR_001745484.2:n.3130_3148dup
XR_002956601.1:n.3127_3145dup
XR_002956602.1:n.3130_3148dup
XR_928302.2:n.3130_3148dup
NM_017890.5:c.3027_3045dup MANE Plus Clinical NP_060360.3:p.Tyr1016IlefsTer6
NM_152564.5:c.3027_3045dup MANE Select NP_689777.3:p.Tyr1016IlefsTer6