{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA515962729",
  "communityStandardTitle": [
    "NM_001123385.2(BCOR):c.4862del (p.Pro1621GlnfsTer?)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1467910",
        "active": true,
        "id": "COSM1467910"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=2964437",
        "active": true,
        "id": "COSM2964437"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4339213",
        "active": true,
        "id": "COSM4339213"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.39913253del?assembly=hg19",
        "id": "chrX:g.39913253del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/797044647",
        "rs": 797044647
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "",
          "end": 40054005,
          "referenceAllele": "G",
          "start": 40054004
        }
      ],
      "hgvs": [
        "NC_000023.11:g.40054005del",
        "CM000685.2:g.40054005del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "",
          "end": 39913258,
          "referenceAllele": "G",
          "start": 39913257
        }
      ],
      "hgvs": [
        "NC_000023.10:g.39913258del",
        "CM000685.1:g.39913258del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "",
          "end": 39798202,
          "referenceAllele": "G",
          "start": 39798201
        }
      ],
      "hgvs": [
        "NC_000023.9:g.39798202del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 128330,
          "referenceAllele": "C",
          "start": 128329
        }
      ],
      "hgvs": [
        "NG_008880.1:g.128330del",
        "LRG_627:g.128330del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001275"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5646,
          "referenceAllele": "C",
          "start": 5645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "ENST00000378444.9:c.4862del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367705.4:p.Pro1621GlnfsTer?",
        "hgvsWellDefined": "ENSP00000367705.4:p.[Pro1621_Glu1640delinsGlnAspGlnLysThrArgMetMetMetThrMetProIleAlaMetCysLeuAsnLeuAsn;Ser1642_Thr1644delinsGlnArgPro;Leu1646_Tyr1650delinsSerTyrArgValIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752084",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378444.9:c.4862del"
          },
          "RefSeq": {
            "hgvs": "NM_001123385.2:c.4862del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000367705.4:p.Pro1621GlnfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_001116857.1:p.Pro1621GlnfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4951,
          "referenceAllele": "C",
          "start": 4950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "ENST00000406200.4:c.4862del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384485.3:p.Pro1621GlnfsTer?",
        "hgvsWellDefined": "ENSP00000384485.3:p.[Pro1621_Glu1640delinsGlnAspGlnLysThrArgMetMetMetThrMetProIleAlaMetCysLeuAsnLeuAsn;Ser1642_Thr1644delinsGlnArgPro;Leu1646_Tyr1650delinsSerTyrArgValIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754145"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4760,
          "referenceAllele": "C",
          "start": 4759
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "ENST00000413905.6:c.4760del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000408006.2:p.Pro1587GlnfsTer?",
        "hgvsWellDefined": "ENSP00000408006.2:p.[Pro1587_Glu1606delinsGlnAspGlnLysThrArgMetMetMetThrMetProIleAlaMetCysLeuAsnLeuAsn;Ser1608_Thr1610delinsGlnArgPro;Leu1612_Tyr1616delinsSerTyrArgValIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754554"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4808,
          "referenceAllele": "C",
          "start": 4807
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "ENST00000427012.3:c.4808del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403823.3:p.Pro1603GlnfsTer?",
        "hgvsWellDefined": "ENSP00000403823.3:p.[Pro1603_Glu1622delinsGlnAspGlnLysThrArgMetMetMetThrMetProIleAlaMetCysLeuAsnLeuAsn;Ser1624_Thr1626delinsGlnArgPro;Leu1628_Tyr1632delinsSerTyrArgValIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755157"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4862,
          "referenceAllele": "C",
          "start": 4861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "ENST00000442018.6:c.4862del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387552.2:p.Pro1621GlnfsTer?",
        "hgvsWellDefined": "ENSP00000387552.2:p.[Pro1621_Glu1640delinsGlnAspGlnLysThrArgMetMetMetThrMetProIleAlaMetCysLeuAsnLeuAsn;Ser1642_Thr1644delinsGlnArgPro;Leu1646_Tyr1650delinsSerTyrArgValIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755879"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5098,
          "referenceAllele": "C",
          "start": 5097
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "ENST00000615339.2:c.4862del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483217.2:p.Pro1621GlnfsTer?",
        "hgvsWellDefined": "ENSP00000483217.2:p.[Pro1621_Glu1640delinsGlnAspGlnLysThrArgMetMetMetThrMetProIleAlaMetCysLeuAsnLeuAsn;Ser1642_Thr1644delinsGlnArgPro;Leu1646_Tyr1650delinsSerTyrArgValIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762010"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 987,
          "referenceAllele": "C",
          "start": 986
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "ENST00000672265.1:n.987del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773324"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5109,
          "referenceAllele": "C",
          "start": 5108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "ENST00000672922.2:c.4862del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499892.2:p.Pro1621GlnfsTer?",
        "hgvsWellDefined": "ENSP00000499892.2:p.[Pro1621_Glu1640delinsGlnAspGlnLysThrArgMetMetMetThrMetProIleAlaMetCysLeuAsnLeuAsn;Ser1642_Thr1644delinsGlnArgPro;Leu1646_Tyr1650delinsSerTyrArgValIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773543"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4953,
          "referenceAllele": "C",
          "start": 4952
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "ENST00000673391.1:c.4760del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500446.1:p.Pro1587GlnfsTer?",
        "hgvsWellDefined": "ENSP00000500446.1:p.[Pro1587_Glu1606delinsGlnAspGlnLysThrArgMetMetMetThrMetProIleAlaMetCysLeuAsnLeuAsn;Ser1608_Thr1610delinsGlnArgPro;Leu1612_Tyr1616delinsSerTyrArgValIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773665"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5299,
          "referenceAllele": "C",
          "start": 5298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "ENST00000679513.1:c.4862del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505761.1:p.Pro1621GlnfsTer?",
        "hgvsWellDefined": "ENSP00000505761.1:p.[Pro1621_Glu1640delinsGlnAspGlnLysThrArgMetMetMetThrMetProIleAlaMetCysLeuAsnLeuAsn;Ser1642_Thr1644delinsGlnArgPro;Leu1646_Tyr1650delinsSerTyrArgValIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779144"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5183,
          "referenceAllele": "C",
          "start": 5182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "ENST00000680831.1:c.4862del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505507.1:p.Pro1621GlnfsTer?",
        "hgvsWellDefined": "ENSP00000505507.1:p.[Pro1621_Glu1640delinsGlnAspGlnLysThrArgMetMetMetThrMetProIleAlaMetCysLeuAsnLeuAsn;Ser1642_Thr1644delinsGlnArgPro;Leu1646_Tyr1650delinsSerTyrArgValIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780446"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5123,
          "referenceAllele": "C",
          "start": 5122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "ENST00000342274.8:c.4760del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345923.4:p.Pro1587GlnfsTer?",
        "hgvsWellDefined": "ENSP00000345923.4:p.[Pro1587_Glu1606delinsGlnAspGlnLysThrArgMetMetMetThrMetProIleAlaMetCysLeuAsnLeuAsn;Ser1608_Thr1610delinsGlnArgPro;Leu1612_Tyr1616delinsSerTyrArgValIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261518"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5091,
          "referenceAllele": "C",
          "start": 5090
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "ENST00000378444.8:c.4862del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367705.4:p.Pro1621GlnfsTer?",
        "hgvsWellDefined": "ENSP00000367705.4:p.[Pro1621_Glu1640delinsGlnAspGlnLysThrArgMetMetMetThrMetProIleAlaMetCysLeuAsnLeuAsn;Ser1642_Thr1644delinsGlnArgPro;Leu1646_Tyr1650delinsSerTyrArgValIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272033"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5069,
          "referenceAllele": "C",
          "start": 5068
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "ENST00000378455.8:c.4706del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367716.4:p.Pro1569GlnfsTer?",
        "hgvsWellDefined": "ENSP00000367716.4:p.[Pro1569_Glu1588delinsGlnAspGlnLysThrArgMetMetMetThrMetProIleAlaMetCysLeuAsnLeuAsn;Ser1590_Thr1592delinsGlnArgPro;Leu1594_Tyr1598delinsSerTyrArgValIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272038"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1651,
          "referenceAllele": "C",
          "start": 1650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "ENST00000378463.5:c.1391del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367724.1:p.Pro464GlnfsTer?",
        "hgvsWellDefined": "ENSP00000367724.1:p.[Pro464_Glu483delinsGlnAspGlnLysThrArgMetMetMetThrMetProIleAlaMetCysLeuAsnLeuAsn;Ser485_Thr487delinsGlnArgPro;Leu489_Tyr493delinsSerTyrArgValIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272043"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4989,
          "referenceAllele": "C",
          "start": 4988
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "ENST00000397354.7:c.4760del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380512.3:p.Pro1587GlnfsTer?",
        "hgvsWellDefined": "ENSP00000380512.3:p.[Pro1587_Glu1606delinsGlnAspGlnLysThrArgMetMetMetThrMetProIleAlaMetCysLeuAsnLeuAsn;Ser1608_Thr1610delinsGlnArgPro;Leu1612_Tyr1616delinsSerTyrArgValIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277757"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1472,
          "referenceAllele": "C",
          "start": 1471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "ENST00000413905.5:c.1472del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000408006.1:p.Pro491GlnfsTer?",
        "hgvsWellDefined": "ENSP00000408006.1:p.[Pro491_Glu510delinsGlnAspGlnLysThrArgMetMetMetThrMetProIleAlaMetCysLeuAsnLeuAsn;Ser512_Thr514delinsGlnArgPro;Leu516_Tyr520delinsSerTyrArgValIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS283287"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 825,
          "endIntronDirection": "+",
          "endIntronOffset": 1368,
          "referenceAllele": "C",
          "start": 825,
          "startIntronDirection": "+",
          "startIntronOffset": 1367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "ENST00000427012.1:c.825+1368del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS289497"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 881,
          "referenceAllele": "C",
          "start": 880
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "ENST00000442018.5:c.881del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387552.1:p.Pro294GlnfsTer?",
        "hgvsWellDefined": "ENSP00000387552.1:p.[Pro294_Glu313delinsGlnAspGlnLysThrArgMetMetMetThrMetProIleAlaMetCysLeuAsnLeuAsn;Ser315_Thr317delinsGlnArgPro;Leu319_Tyr323delinsSerTyrArgValIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296683"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5123,
          "referenceAllele": "C",
          "start": 5122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "NM_001123383.1:c.4760del",
        "LRG_627t1:c.4760del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001116855.1:p.Pro1587GlnfsTer?",
        "hgvsWellDefined": "NP_001116855.1:p.[Pro1587_Glu1606delinsGlnAspGlnLysThrArgMetMetMetThrMetProIleAlaMetCysLeuAsnLeuAsn;Ser1608_Thr1610delinsGlnArgPro;Leu1612_Tyr1616delinsSerTyrArgValIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011455"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5069,
          "referenceAllele": "C",
          "start": 5068
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "NM_001123384.1:c.4706del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001116856.1:p.Pro1569GlnfsTer?",
        "hgvsWellDefined": "NP_001116856.1:p.[Pro1569_Glu1588delinsGlnAspGlnLysThrArgMetMetMetThrMetProIleAlaMetCysLeuAsnLeuAsn;Ser1590_Thr1592delinsGlnArgPro;Leu1594_Tyr1598delinsSerTyrArgValIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011456"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5154,
          "referenceAllele": "C",
          "start": 5153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "NM_001123385.1:c.4862del",
        "LRG_627t2:c.4862del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001116857.1:p.Pro1621GlnfsTer?",
        "hgvsWellDefined": "NP_001116857.1:p.[Pro1621_Glu1640delinsGlnAspGlnLysThrArgMetMetMetThrMetProIleAlaMetCysLeuAsnLeuAsn;Ser1642_Thr1644delinsGlnArgPro;Leu1646_Tyr1650delinsSerTyrArgValIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011457"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5052,
          "referenceAllele": "C",
          "start": 5051
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "NM_017745.5:c.4760del"
      ],
      "proteinEffect": {
        "hgvs": "NP_060215.4:p.Pro1587GlnfsTer?",
        "hgvsWellDefined": "NP_060215.4:p.[Pro1587_Glu1606delinsGlnAspGlnLysThrArgMetMetMetThrMetProIleAlaMetCysLeuAsnLeuAsn;Ser1608_Thr1610delinsGlnArgPro;Leu1612_Tyr1616delinsSerTyrArgValIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035153"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5286,
          "referenceAllele": "C",
          "start": 5285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "XM_005272616.1:c.4862del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272673.1:p.Pro1621GlnfsTer?",
        "hgvsWellDefined": "XP_005272673.1:p.[Pro1621_Glu1640delinsGlnAspGlnLysThrArgMetMetMetThrMetProIleAlaMetCysLeuAsnLeuAsn;Ser1642_Thr1644delinsGlnArgPro;Leu1646_Tyr1650delinsSerTyrArgValIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067310"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4946,
          "referenceAllele": "C",
          "start": 4945
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "XM_005272618.2:c.4862del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272675.1:p.Pro1621GlnfsTer?",
        "hgvsWellDefined": "XP_005272675.1:p.[Pro1621_Glu1640delinsGlnAspGlnLysThrArgMetMetMetThrMetProIleAlaMetCysLeuAsnLeuAsn;Ser1642_Thr1644delinsGlnArgPro;Leu1646_Tyr1650delinsSerTyrArgValIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067311"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5558,
          "referenceAllele": "C",
          "start": 5557
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "XM_005272619.3:c.4808del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272676.1:p.Pro1603GlnfsTer?",
        "hgvsWellDefined": "XP_005272676.1:p.[Pro1603_Glu1622delinsGlnAspGlnLysThrArgMetMetMetThrMetProIleAlaMetCysLeuAsnLeuAsn;Ser1624_Thr1626delinsGlnArgPro;Leu1628_Tyr1632delinsSerTyrArgValIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067312"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5456,
          "referenceAllele": "C",
          "start": 5455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "XM_005272620.3:c.4706del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272677.1:p.Pro1569GlnfsTer?",
        "hgvsWellDefined": "XP_005272677.1:p.[Pro1569_Glu1588delinsGlnAspGlnLysThrArgMetMetMetThrMetProIleAlaMetCysLeuAsnLeuAsn;Ser1590_Thr1592delinsGlnArgPro;Leu1594_Tyr1598delinsSerTyrArgValIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067313"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4994,
          "referenceAllele": "C",
          "start": 4993
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "XM_006724536.2:c.4862del"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724599.1:p.Pro1621GlnfsTer?",
        "hgvsWellDefined": "XP_006724599.1:p.[Pro1621_Glu1640delinsGlnAspGlnLysThrArgMetMetMetThrMetProIleAlaMetCysLeuAsnLeuAsn;Ser1642_Thr1644delinsGlnArgPro;Leu1646_Tyr1650delinsSerTyrArgValIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075568"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5074,
          "referenceAllele": "C",
          "start": 5073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "XM_011543929.1:c.4862del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542231.1:p.Pro1621GlnfsTer?",
        "hgvsWellDefined": "XP_011542231.1:p.[Pro1621_Glu1640delinsGlnAspGlnLysThrArgMetMetMetThrMetProIleAlaMetCysLeuAsnLeuAsn;Ser1642_Thr1644delinsGlnArgPro;Leu1646_Tyr1650delinsSerTyrArgValIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110842"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5075,
          "referenceAllele": "C",
          "start": 5074
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "XM_011543930.1:c.4862del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542232.1:p.Pro1621GlnfsTer?",
        "hgvsWellDefined": "XP_011542232.1:p.[Pro1621_Glu1640delinsGlnAspGlnLysThrArgMetMetMetThrMetProIleAlaMetCysLeuAsnLeuAsn;Ser1642_Thr1644delinsGlnArgPro;Leu1646_Tyr1650delinsSerTyrArgValIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110843"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4955,
          "referenceAllele": "C",
          "start": 4954
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "XM_011543931.1:c.4862del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542233.1:p.Pro1621GlnfsTer?",
        "hgvsWellDefined": "XP_011542233.1:p.[Pro1621_Glu1640delinsGlnAspGlnLysThrArgMetMetMetThrMetProIleAlaMetCysLeuAsnLeuAsn;Ser1642_Thr1644delinsGlnArgPro;Leu1646_Tyr1650delinsSerTyrArgValIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110844"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4952,
          "referenceAllele": "C",
          "start": 4951
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "XM_005272618.3:c.4862del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272675.1:p.Pro1621GlnfsTer?",
        "hgvsWellDefined": "XP_005272675.1:p.[Pro1621_Glu1640delinsGlnAspGlnLysThrArgMetMetMetThrMetProIleAlaMetCysLeuAsnLeuAsn;Ser1642_Thr1644delinsGlnArgPro;Leu1646_Tyr1650delinsSerTyrArgValIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537331"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4899,
          "referenceAllele": "C",
          "start": 4898
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "XM_005272619.4:c.4808del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272676.1:p.Pro1603GlnfsTer?",
        "hgvsWellDefined": "XP_005272676.1:p.[Pro1603_Glu1622delinsGlnAspGlnLysThrArgMetMetMetThrMetProIleAlaMetCysLeuAsnLeuAsn;Ser1624_Thr1626delinsGlnArgPro;Leu1628_Tyr1632delinsSerTyrArgValIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537332"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4797,
          "referenceAllele": "C",
          "start": 4796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "XM_005272620.4:c.4706del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272677.1:p.Pro1569GlnfsTer?",
        "hgvsWellDefined": "XP_005272677.1:p.[Pro1569_Glu1588delinsGlnAspGlnLysThrArgMetMetMetThrMetProIleAlaMetCysLeuAsnLeuAsn;Ser1590_Thr1592delinsGlnArgPro;Leu1594_Tyr1598delinsSerTyrArgValIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537333"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6388,
          "referenceAllele": "C",
          "start": 6387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "XM_006724536.3:c.4862del"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724599.1:p.Pro1621GlnfsTer?",
        "hgvsWellDefined": "XP_006724599.1:p.[Pro1621_Glu1640delinsGlnAspGlnLysThrArgMetMetMetThrMetProIleAlaMetCysLeuAsnLeuAsn;Ser1642_Thr1644delinsGlnArgPro;Leu1646_Tyr1650delinsSerTyrArgValIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540999"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5062,
          "referenceAllele": "C",
          "start": 5061
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "XM_011543929.2:c.4862del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542231.1:p.Pro1621GlnfsTer?",
        "hgvsWellDefined": "XP_011542231.1:p.[Pro1621_Glu1640delinsGlnAspGlnLysThrArgMetMetMetThrMetProIleAlaMetCysLeuAsnLeuAsn;Ser1642_Thr1644delinsGlnArgPro;Leu1646_Tyr1650delinsSerTyrArgValIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555431"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5185,
          "referenceAllele": "C",
          "start": 5184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "XM_011543931.2:c.4862del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542233.1:p.Pro1621GlnfsTer?",
        "hgvsWellDefined": "XP_011542233.1:p.[Pro1621_Glu1640delinsGlnAspGlnLysThrArgMetMetMetThrMetProIleAlaMetCysLeuAsnLeuAsn;Ser1642_Thr1644delinsGlnArgPro;Leu1646_Tyr1650delinsSerTyrArgValIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555432"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6286,
          "referenceAllele": "C",
          "start": 6285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "XM_017029615.1:c.4760del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885104.1:p.Pro1587GlnfsTer?",
        "hgvsWellDefined": "XP_016885104.1:p.[Pro1587_Glu1606delinsGlnAspGlnLysThrArgMetMetMetThrMetProIleAlaMetCysLeuAsnLeuAsn;Ser1608_Thr1610delinsGlnArgPro;Leu1612_Tyr1616delinsSerTyrArgValIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579131"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4953,
          "referenceAllele": "C",
          "start": 4952
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "XM_017029616.2:c.4862del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885105.1:p.Pro1621GlnfsTer?",
        "hgvsWellDefined": "XP_016885105.1:p.[Pro1621_Glu1640delinsGlnAspGlnLysThrArgMetMetMetThrMetProIleAlaMetCysLeuAsnLeuAsn;Ser1642_Thr1644delinsGlnArgPro;Leu1646_Tyr1650delinsSerTyrArgValIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579132"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5017,
          "referenceAllele": "C",
          "start": 5016
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "NM_001123384.2:c.4706del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001116856.1:p.Pro1569GlnfsTer?",
        "hgvsWellDefined": "NP_001116856.1:p.[Pro1569_Glu1588delinsGlnAspGlnLysThrArgMetMetMetThrMetProIleAlaMetCysLeuAsnLeuAsn;Ser1590_Thr1592delinsGlnArgPro;Leu1594_Tyr1598delinsSerTyrArgValIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676808"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5646,
          "referenceAllele": "C",
          "start": 5645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "NM_001123385.2:c.4862del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001116857.1:p.Pro1621GlnfsTer?",
        "hgvsWellDefined": "NP_001116857.1:p.[Pro1621_Glu1640delinsGlnAspGlnLysThrArgMetMetMetThrMetProIleAlaMetCysLeuAsnLeuAsn;Ser1642_Thr1644delinsGlnArgPro;Leu1646_Tyr1650delinsSerTyrArgValIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676809",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378444.9:c.4862del"
          },
          "RefSeq": {
            "hgvs": "NM_001123385.2:c.4862del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000367705.4:p.Pro1621GlnfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_001116857.1:p.Pro1621GlnfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5544,
          "referenceAllele": "C",
          "start": 5543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "NM_017745.6:c.4760del"
      ],
      "proteinEffect": {
        "hgvs": "NP_060215.4:p.Pro1587GlnfsTer?",
        "hgvsWellDefined": "NP_060215.4:p.[Pro1587_Glu1606delinsGlnAspGlnLysThrArgMetMetMetThrMetProIleAlaMetCysLeuAsnLeuAsn;Ser1608_Thr1610delinsGlnArgPro;Leu1612_Tyr1616delinsSerTyrArgValIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697865"
    }
  ],
  "type": "nucleotide"
}