Canonical Allele Identifier: CA252422
Gene: VPS13B HGNC NCBI

Linked Data

dbSNP Id: rs180177327

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99442538_99442539del , CM000670.2:g.99442538_99442539del GRCh38
NC_000008.10:g.100454766_100454767del , CM000670.1:g.100454766_100454767del GRCh37
NC_000008.9:g.100523942_100523943del NCBI36
NG_007098.2:g.434273_434274del , LRG_351:g.434273_434274del

Transcript Alleles

HGVS Amino-acid change
ENST00000355155.6:c.3345_3346del ENSP00000347281.2:p.Cys1116PhefsTer8
ENST00000682145.1:n.3225_3226del
ENST00000682153.1:c.3348_3349del ENSP00000507923.1:p.Cys1117PhefsTer8
ENST00000682234.1:c.3348_3349del ENSP00000508225.1:p.Cys1117PhefsTer8
ENST00000682358.1:n.3418_3419del
ENST00000683334.1:c.3348_3349del ENSP00000507369.1:p.Cys1117PhefsTer8
ENST00000683486.1:n.3414_3415del
ENST00000683619.1:n.3520_3521del
ENST00000357162.7:c.3348_3349del MANE Select ENSP00000349685.2:p.Cys1117PhefsTer8
ENST00000358544.7:c.3348_3349del MANE Plus Clinical ENSP00000351346.2:p.Cys1117PhefsTer8
ENST00000357162.6:c.3348_3349del ENSP00000349685.2:p.Cys1117PhefsTer8
ENST00000358544.6:c.3348_3349del ENSP00000351346.2:p.Cys1117PhefsTer8
ENST00000496144.5:c.3348_3349del ENSP00000430900.1:p.Cys1117PhefsTer8
NM_017890.4:c.3348_3349del , LRG_351t1:c.3348_3349del NP_060360.3:p.Cys1117PhefsTer8
NM_152564.4:c.3348_3349del , LRG_351t2:c.3348_3349del NP_689777.3:p.Cys1117PhefsTer8
XM_005250800.2:c.3348_3349del XP_005250857.1:p.Cys1117PhefsTer8
XM_005250801.3:c.3348_3349del XP_005250858.1:p.Cys1117PhefsTer8
XM_006716510.2:c.3348_3349del XP_006716573.1:p.Cys1117PhefsTer8
XM_011516848.1:c.3345_3346del XP_011515150.1:p.Cys1116PhefsTer8
XM_011516849.1:c.3348_3349del XP_011515151.1:p.Cys1117PhefsTer8
XM_011516850.1:c.2970_2971del XP_011515152.1:p.Cys991PhefsTer8
XM_011516851.1:c.234_235del XP_011515153.1:p.Cys79PhefsTer8
XM_011516852.1:c.234_235del XP_011515154.1:p.Cys79PhefsTer8
XM_011516853.1:c.3348_3349del XP_011515155.1:p.Cys1117PhefsTer8
XM_011516855.1:c.3348_3349del XP_011515157.1:p.Cys1117PhefsTer8
XM_011516856.1:c.3348_3349del XP_011515158.1:p.Cys1117PhefsTer8
XM_011516857.1:c.3348_3349del XP_011515159.1:p.Cys1117PhefsTer8
XM_011516858.1:c.3348_3349del XP_011515160.1:p.Cys1117PhefsTer8
XR_928301.1:n.3451_3452del
XR_928302.1:n.3451_3452del
XR_928303.1:n.3451_3452del
XR_928304.1:n.3451_3452del
XM_005250800.3:c.3348_3349del XP_005250857.1:p.Cys1117PhefsTer8
XM_005250801.5:c.3348_3349del XP_005250858.1:p.Cys1117PhefsTer8
XM_006716510.3:c.3348_3349del XP_006716573.1:p.Cys1117PhefsTer8
XM_011516848.2:c.3345_3346del XP_011515150.1:p.Cys1116PhefsTer8
XM_011516849.2:c.3348_3349del XP_011515151.1:p.Cys1117PhefsTer8
XM_011516850.2:c.2970_2971del XP_011515152.1:p.Cys991PhefsTer8
XM_011516851.2:c.234_235del XP_011515153.1:p.Cys79PhefsTer8
XM_011516852.2:c.234_235del XP_011515154.1:p.Cys79PhefsTer8
XM_011516853.2:c.3348_3349del XP_011515155.1:p.Cys1117PhefsTer8
XM_017013109.1:c.3153_3154del XP_016868598.1:p.Cys1052PhefsTer8
XM_017013111.1:c.234_235del XP_016868600.1:p.Cys79PhefsTer8
XM_024447074.1:c.2133_2134del XP_024302842.1:p.Cys712PhefsTer8
XR_001745481.1:n.3451_3452del
XR_001745482.2:n.3451_3452del
XR_001745484.2:n.3467_3468del
XR_002956601.1:n.3448_3449del
XR_002956602.1:n.3467_3468del
XR_928302.2:n.3451_3452del
NM_017890.5:c.3348_3349del MANE Plus Clinical NP_060360.3:p.Cys1117PhefsTer8
NM_152564.5:c.3348_3349del MANE Select NP_689777.3:p.Cys1117PhefsTer8