Canonical Allele Identifier: CA16041259
Gene: VPS13B HGNC NCBI

Linked Data

ClinVar Variation Id: 370815
ClinVar RCV Id: RCV000410741
dbSNP Id: rs1057516789

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99821481del , CM000670.2:g.99821481del GRCh38
NC_000008.10:g.100833709del , CM000670.1:g.100833709del GRCh37
NC_000008.9:g.100902885del NCBI36
NG_007098.2:g.813216del , LRG_351:g.813216del

Transcript Alleles

HGVS Amino-acid change
ENST00000682153.1:c.9257del ENSP00000507923.1:p.Lys3086SerfsTer26
ENST00000682358.1:n.9327del
ENST00000683334.1:c.*4939del ENSP00000507369.1:n.*4939del
ENST00000357162.7:c.9182del MANE Select ENSP00000349685.2:p.Lys3061SerfsTer26
ENST00000358544.7:c.9257del MANE Plus Clinical ENSP00000351346.2:p.Lys3086SerfsTer26
ENST00000357162.6:c.9182del ENSP00000349685.2:p.Lys3061SerfsTer26
ENST00000358544.6:c.9257del ENSP00000351346.2:p.Lys3086SerfsTer26
NM_017890.4:c.9257del , LRG_351t1:c.9257del NP_060360.3:p.Lys3086SerfsTer26
NM_152564.4:c.9182del , LRG_351t2:c.9182del NP_689777.3:p.Lys3061SerfsTer26
XM_005250800.2:c.9257del XP_005250857.1:p.Lys3086SerfsTer26
XM_005250801.3:c.9257del XP_005250858.1:p.Lys3086SerfsTer26
XM_011516848.1:c.9254del XP_011515150.1:p.Lys3085SerfsTer26
XM_011516849.1:c.9179del XP_011515151.1:p.Lys3060SerfsTer26
XM_011516850.1:c.8879del XP_011515152.1:p.Lys2960SerfsTer26
XM_011516851.1:c.6143del XP_011515153.1:p.Lys2048SerfsTer26
XM_011516852.1:c.6143del XP_011515154.1:p.Lys2048SerfsTer26
XM_011516854.1:c.5036del XP_011515156.1:p.Lys1679SerfsTer26
XM_005250800.3:c.9257del XP_005250857.1:p.Lys3086SerfsTer26
XM_005250801.5:c.9257del XP_005250858.1:p.Lys3086SerfsTer26
XM_011516848.2:c.9254del XP_011515150.1:p.Lys3085SerfsTer26
XM_011516849.2:c.9179del XP_011515151.1:p.Lys3060SerfsTer26
XM_011516850.2:c.8879del XP_011515152.1:p.Lys2960SerfsTer26
XM_011516851.2:c.6143del XP_011515153.1:p.Lys2048SerfsTer26
XM_011516852.2:c.6143del XP_011515154.1:p.Lys2048SerfsTer26
XM_011516854.2:c.5036del XP_011515156.1:p.Lys1679SerfsTer26
XM_017013109.1:c.9062del XP_016868598.1:p.Lys3021SerfsTer26
XM_017013111.1:c.6143del XP_016868600.1:p.Lys2048SerfsTer26
XM_017013112.1:c.4814del XP_016868601.1:p.Lys1605SerfsTer26
XM_024447074.1:c.8042del XP_024302842.1:p.Lys2681SerfsTer26
NM_017890.5:c.9257del MANE Plus Clinical NP_060360.3:p.Lys3086SerfsTer26
NM_152564.5:c.9182del MANE Select NP_689777.3:p.Lys3061SerfsTer26