Canonical Allele Identifier: CA16041257
Gene: VPS13B HGNC NCBI

Linked Data

ClinVar Variation Id: 370156
ClinVar RCV Id: RCV000412199
dbSNP Id: rs1057516276
MyVariant Identifiers: chr8:g.100832347del (hg19) chr8:g.99820119del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99820119del , CM000670.2:g.99820119del GRCh38
NC_000008.10:g.100832347del , CM000670.1:g.100832347del GRCh37
NC_000008.9:g.100901523del NCBI36
NG_007098.2:g.811854del , LRG_351:g.811854del

Transcript Alleles

HGVS Amino-acid change
ENST00000682153.1:c.9066del ENSP00000507923.1:p.Gln3023ArgfsTer20
ENST00000682358.1:n.9136del
ENST00000683334.1:c.*4748del ENSP00000507369.1:n.*4748del
ENST00000357162.7:c.8991del MANE Select ENSP00000349685.2:p.Gln2998ArgfsTer20
ENST00000358544.7:c.9066del MANE Plus Clinical ENSP00000351346.2:p.Gln3023ArgfsTer20
ENST00000357162.6:c.8991del ENSP00000349685.2:p.Gln2998ArgfsTer20
ENST00000358544.6:c.9066del ENSP00000351346.2:p.Gln3023ArgfsTer20
NM_017890.4:c.9066del , LRG_351t1:c.9066del NP_060360.3:p.Gln3023ArgfsTer20
NM_152564.4:c.8991del , LRG_351t2:c.8991del NP_689777.3:p.Gln2998ArgfsTer20
XM_005250800.2:c.9066del XP_005250857.1:p.Gln3023ArgfsTer20
XM_005250801.3:c.9066del XP_005250858.1:p.Gln3023ArgfsTer20
XM_011516848.1:c.9063del XP_011515150.1:p.Gln3022ArgfsTer20
XM_011516849.1:c.8988del XP_011515151.1:p.Gln2997ArgfsTer20
XM_011516850.1:c.8688del XP_011515152.1:p.Gln2897ArgfsTer20
XM_011516851.1:c.5952del XP_011515153.1:p.Gln1985ArgfsTer20
XM_011516852.1:c.5952del XP_011515154.1:p.Gln1985ArgfsTer20
XM_011516854.1:c.4845del XP_011515156.1:p.Gln1616ArgfsTer20
XM_005250800.3:c.9066del XP_005250857.1:p.Gln3023ArgfsTer20
XM_005250801.5:c.9066del XP_005250858.1:p.Gln3023ArgfsTer20
XM_011516848.2:c.9063del XP_011515150.1:p.Gln3022ArgfsTer20
XM_011516849.2:c.8988del XP_011515151.1:p.Gln2997ArgfsTer20
XM_011516850.2:c.8688del XP_011515152.1:p.Gln2897ArgfsTer20
XM_011516851.2:c.5952del XP_011515153.1:p.Gln1985ArgfsTer20
XM_011516852.2:c.5952del XP_011515154.1:p.Gln1985ArgfsTer20
XM_011516854.2:c.4845del XP_011515156.1:p.Gln1616ArgfsTer20
XM_017013109.1:c.8871del XP_016868598.1:p.Gln2958ArgfsTer20
XM_017013111.1:c.5952del XP_016868600.1:p.Gln1985ArgfsTer20
XM_017013112.1:c.4623del XP_016868601.1:p.Gln1542ArgfsTer20
XM_024447074.1:c.7851del XP_024302842.1:p.Gln2618ArgfsTer20
NM_017890.5:c.9066del MANE Plus Clinical NP_060360.3:p.Gln3023ArgfsTer20
NM_152564.5:c.8991del MANE Select NP_689777.3:p.Gln2998ArgfsTer20
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