Canonical Allele Identifier: CA264099
Gene: VPS13B HGNC NCBI

Linked Data

dbSNP Id: rs180177363
MyVariant Identifiers: chr8:g.100654169_100654170dupAG (hg19) chr8:g.100654166_100654167insAG (hg19) chr8:g.99641941_99641942dupAG (hg38) chr8:g.99641938_99641939insAG (hg38)
PubMed: PMID:12730828 PMID:16648375 PMID:20656880
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99641941_99641942dup , CM000670.2:g.99641941_99641942dup GRCh38
NC_000008.10:g.100654169_100654170dup , CM000670.1:g.100654169_100654170dup GRCh37
NC_000008.9:g.100723345_100723346dup NCBI36
NG_007098.2:g.633676_633677dup , LRG_351:g.633676_633677dup

Transcript Alleles

HGVS Amino-acid change
ENST00000682153.1:c.5426_5427dup ENSP00000507923.1:p.Gln1810SerfsTer21
ENST00000682358.1:n.5496_5497dup
ENST00000683334.1:c.*1108_*1109dup ENSP00000507369.1:n.*1108_*1109dup
ENST00000357162.7:c.5351_5352dup MANE Select ENSP00000349685.2:p.Gln1785SerfsTer21
ENST00000358544.7:c.5426_5427dup MANE Plus Clinical ENSP00000351346.2:p.Gln1810SerfsTer21
ENST00000357162.6:c.5351_5352dup ENSP00000349685.2:p.Gln1785SerfsTer21
ENST00000358544.6:c.5426_5427dup ENSP00000351346.2:p.Gln1810SerfsTer21
NM_017890.4:c.5426_5427dup , LRG_351t1:c.5426_5427dup NP_060360.3:p.Gln1810SerfsTer21
NM_152564.4:c.5351_5352dup , LRG_351t2:c.5351_5352dup NP_689777.3:p.Gln1785SerfsTer21
XM_005250800.2:c.5426_5427dup XP_005250857.1:p.Gln1810SerfsTer21
XM_005250801.3:c.5426_5427dup XP_005250858.1:p.Gln1810SerfsTer21
XM_011516848.1:c.5423_5424dup XP_011515150.1:p.Gln1809SerfsTer21
XM_011516849.1:c.5348_5349dup XP_011515151.1:p.Gln1784SerfsTer21
XM_011516850.1:c.5048_5049dup XP_011515152.1:p.Gln1684SerfsTer21
XM_011516851.1:c.2312_2313dup XP_011515153.1:p.Gln772SerfsTer21
XM_011516852.1:c.2312_2313dup XP_011515154.1:p.Gln772SerfsTer21
XM_011516853.1:c.5426_5427dup XP_011515155.1:p.Gln1810SerfsTer21
XM_011516854.1:c.1205_1206dup XP_011515156.1:p.Gln403SerfsTer21
XM_005250800.3:c.5426_5427dup XP_005250857.1:p.Gln1810SerfsTer21
XM_005250801.5:c.5426_5427dup XP_005250858.1:p.Gln1810SerfsTer21
XM_011516848.2:c.5423_5424dup XP_011515150.1:p.Gln1809SerfsTer21
XM_011516849.2:c.5348_5349dup XP_011515151.1:p.Gln1784SerfsTer21
XM_011516850.2:c.5048_5049dup XP_011515152.1:p.Gln1684SerfsTer21
XM_011516851.2:c.2312_2313dup XP_011515153.1:p.Gln772SerfsTer21
XM_011516852.2:c.2312_2313dup XP_011515154.1:p.Gln772SerfsTer21
XM_011516853.2:c.5426_5427dup XP_011515155.1:p.Gln1810SerfsTer21
XM_011516854.2:c.1205_1206dup XP_011515156.1:p.Gln403SerfsTer21
XM_017013109.1:c.5231_5232dup XP_016868598.1:p.Gln1745SerfsTer21
XM_017013111.1:c.2312_2313dup XP_016868600.1:p.Gln772SerfsTer21
XM_017013112.1:c.983_984dup XP_016868601.1:p.Gln329SerfsTer21
XM_024447074.1:c.4211_4212dup XP_024302842.1:p.Gln1405SerfsTer21
XR_001745482.2:n.5387_5388dup
NM_017890.5:c.5426_5427dup MANE Plus Clinical NP_060360.3:p.Gln1810SerfsTer21
NM_152564.5:c.5351_5352dup MANE Select NP_689777.3:p.Gln1785SerfsTer21
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