Canonical Allele Identifier: CA1805714846
Gene: VPS13B HGNC NCBI

Linked Data

dbSNP Id: rs1814419681

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99391131_99391145del , CM000670.2:g.99391131_99391145del GRCh38
NC_000008.10:g.100403359_100403373del , CM000670.1:g.100403359_100403373del GRCh37
NC_000008.9:g.100472535_100472549del NCBI36
NG_007098.2:g.382866_382880del , LRG_351:g.382866_382880del

Transcript Alleles

HGVS Amino-acid Change
ENST00000355155.6:c.2935-429_2935-415del ENSP00000347281.2:n.2935-429_2935-415del
ENST00000682145.1:n.2812-426_2812-412del
ENST00000682153.1:c.2935-426_2935-412del ENSP00000507923.1:n.2935-426_2935-412del
ENST00000682234.1:c.2935-426_2935-412del ENSP00000508225.1:n.2935-426_2935-412del
ENST00000682358.1:n.3005-426_3005-412del
ENST00000683334.1:c.2935-426_2935-412del ENSP00000507369.1:n.2935-426_2935-412del
ENST00000683486.1:n.3001-426_3001-412del
ENST00000683619.1:n.3107-426_3107-412del
ENST00000683869.1:n.3016-426_3016-412del
ENST00000357162.7:c.2935-426_2935-412del MANE Select ENSP00000349685.2:n.2935-426_2935-412del
ENST00000358544.7:c.2935-426_2935-412del MANE Plus Clinical ENSP00000351346.2:n.2935-426_2935-412del
ENST00000357162.6:c.2935-426_2935-412del ENSP00000349685.2:n.2935-426_2935-412del
ENST00000358544.6:c.2935-426_2935-412del ENSP00000351346.2:n.2935-426_2935-412del
ENST00000496144.5:c.2935-426_2935-412del ENSP00000430900.1:n.2935-426_2935-412del
ENST00000521037.1:n.106-426_106-412del
ENST00000522802.5:n.157-426_157-412del
NM_017890.4:c.2935-426_2935-412del , LRG_351t1:c.2935-426_2935-412del NP_060360.3:n.2935-426_2935-412del
NM_152564.4:c.2935-426_2935-412del , LRG_351t2:c.2935-426_2935-412del NP_689777.3:n.2935-426_2935-412del
XM_005250800.2:c.2935-426_2935-412del XP_005250857.1:n.2935-426_2935-412del
XM_005250801.3:c.2935-426_2935-412del XP_005250858.1:n.2935-426_2935-412del
XM_006716510.2:c.2935-426_2935-412del XP_006716573.1:n.2935-426_2935-412del
XM_011516848.1:c.2935-429_2935-415del XP_011515150.1:n.2935-429_2935-415del
XM_011516849.1:c.2935-426_2935-412del XP_011515151.1:n.2935-426_2935-412del
XM_011516850.1:c.2557-426_2557-412del XP_011515152.1:n.2557-426_2557-412del
XM_011516853.1:c.2935-426_2935-412del XP_011515155.1:n.2935-426_2935-412del
XM_011516855.1:c.2935-426_2935-412del XP_011515157.1:n.2935-426_2935-412del
XM_011516856.1:c.2935-426_2935-412del XP_011515158.1:n.2935-426_2935-412del
XM_011516857.1:c.2935-426_2935-412del XP_011515159.1:n.2935-426_2935-412del
XM_011516858.1:c.2935-426_2935-412del XP_011515160.1:n.2935-426_2935-412del
XM_011516859.1:c.2935-426_2935-412del XP_011515161.1:n.2935-426_2935-412del
XM_011516860.1:c.2935-426_2935-412del XP_011515162.1:n.2935-426_2935-412del
XM_011516861.1:c.2935-426_2935-412del XP_011515163.1:n.2935-426_2935-412del
XR_928301.1:n.3038-426_3038-412del
XR_928302.1:n.3038-426_3038-412del
XR_928303.1:n.3038-426_3038-412del
XR_928304.1:n.3038-426_3038-412del
XM_005250800.3:c.2935-426_2935-412del XP_005250857.1:n.2935-426_2935-412del
XM_005250801.5:c.2935-426_2935-412del XP_005250858.1:n.2935-426_2935-412del
XM_006716510.3:c.2935-426_2935-412del XP_006716573.1:n.2935-426_2935-412del
XM_011516848.2:c.2935-429_2935-415del XP_011515150.1:n.2935-429_2935-415del
XM_011516849.2:c.2935-426_2935-412del XP_011515151.1:n.2935-426_2935-412del
XM_011516850.2:c.2557-426_2557-412del XP_011515152.1:n.2557-426_2557-412del
XM_011516853.2:c.2935-426_2935-412del XP_011515155.1:n.2935-426_2935-412del
XM_011516859.2:c.2935-426_2935-412del XP_011515161.1:n.2935-426_2935-412del
XM_017013109.1:c.2740-426_2740-412del XP_016868598.1:n.2740-426_2740-412del
XM_024447074.1:c.1720-426_1720-412del XP_024302842.1:n.1720-426_1720-412del
XM_024447075.1:c.2935-426_2935-412del XP_024302843.1:n.2935-426_2935-412del
XR_001745481.1:n.3038-426_3038-412del
XR_001745482.2:n.3038-426_3038-412del
XR_001745484.2:n.3038-426_3038-412del
XR_002956601.1:n.3038-429_3038-415del
XR_002956602.1:n.3038-426_3038-412del
XR_928302.2:n.3038-426_3038-412del
NM_017890.5:c.2935-426_2935-412del MANE Plus Clinical NP_060360.3:n.2935-426_2935-412del
NM_152564.5:c.2935-426_2935-412del MANE Select NP_689777.3:n.2935-426_2935-412del