Canonical Allele Identifier: CA16041255
Gene: VPS13B HGNC NCBI

Linked Data

ClinVar Variation Id: 370888
ClinVar RCV Id: RCV000412055
dbSNP Id: rs1057516845
MyVariant Identifiers: chr8:g.100832239del (hg19) chr8:g.99820011del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99820011del , CM000670.2:g.99820011del GRCh38
NC_000008.10:g.100832239del , CM000670.1:g.100832239del GRCh37
NC_000008.9:g.100901415del NCBI36
NG_007098.2:g.811746del , LRG_351:g.811746del

Transcript Alleles

HGVS Amino-acid change
ENST00000682153.1:c.8958del ENSP00000507923.1:p.Trp2988GlyfsTer?
ENST00000682358.1:n.9028del
ENST00000683334.1:c.*4640del ENSP00000507369.1:n.*4640del
ENST00000357162.7:c.8883del MANE Select ENSP00000349685.2:p.Trp2963GlyfsTer?
ENST00000358544.7:c.8958del MANE Plus Clinical ENSP00000351346.2:p.Trp2988GlyfsTer?
ENST00000357162.6:c.8883del ENSP00000349685.2:p.Trp2963GlyfsTer?
ENST00000358544.6:c.8958del ENSP00000351346.2:p.Trp2988GlyfsTer?
NM_017890.4:c.8958del , LRG_351t1:c.8958del NP_060360.3:p.Trp2988GlyfsTer?
NM_152564.4:c.8883del , LRG_351t2:c.8883del NP_689777.3:p.Trp2963GlyfsTer?
XM_005250800.2:c.8958del XP_005250857.1:p.Trp2988GlyfsTer?
XM_005250801.3:c.8958del XP_005250858.1:p.Trp2988GlyfsTer?
XM_011516848.1:c.8955del XP_011515150.1:p.Trp2987GlyfsTer?
XM_011516849.1:c.8880del XP_011515151.1:p.Trp2962GlyfsTer?
XM_011516850.1:c.8580del XP_011515152.1:p.Trp2862GlyfsTer?
XM_011516851.1:c.5844del XP_011515153.1:p.Trp1950GlyfsTer?
XM_011516852.1:c.5844del XP_011515154.1:p.Trp1950GlyfsTer?
XM_011516854.1:c.4737del XP_011515156.1:p.Trp1581GlyfsTer?
XM_005250800.3:c.8958del XP_005250857.1:p.Trp2988GlyfsTer?
XM_005250801.5:c.8958del XP_005250858.1:p.Trp2988GlyfsTer?
XM_011516848.2:c.8955del XP_011515150.1:p.Trp2987GlyfsTer?
XM_011516849.2:c.8880del XP_011515151.1:p.Trp2962GlyfsTer?
XM_011516850.2:c.8580del XP_011515152.1:p.Trp2862GlyfsTer?
XM_011516851.2:c.5844del XP_011515153.1:p.Trp1950GlyfsTer?
XM_011516852.2:c.5844del XP_011515154.1:p.Trp1950GlyfsTer?
XM_011516854.2:c.4737del XP_011515156.1:p.Trp1581GlyfsTer?
XM_017013109.1:c.8763del XP_016868598.1:p.Trp2923GlyfsTer?
XM_017013111.1:c.5844del XP_016868600.1:p.Trp1950GlyfsTer?
XM_017013112.1:c.4515del XP_016868601.1:p.Trp1507GlyfsTer?
XM_024447074.1:c.7743del XP_024302842.1:p.Trp2583GlyfsTer?
NM_017890.5:c.8958del MANE Plus Clinical NP_060360.3:p.Trp2988GlyfsTer?
NM_152564.5:c.8883del MANE Select NP_689777.3:p.Trp2963GlyfsTer?
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