{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA156408",
  "communityStandardTitle": [
    "NM_006941.4(SOX10):c.271_275del (p.Pro91AlafsTer?)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=137040[alleleid]",
        "alleleId": 137040,
        "preferredName": "NM_006941.4(SOX10):c.271_275del (p.Pro91fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/133303",
        "RCV": [
          "RCV000119814"
        ],
        "variationId": 133303
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.38379517_38379521del?assembly=hg19",
        "id": "chr22:g.38379517_38379521del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.37983510_37983514del?assembly=hg38",
        "id": "chr22:g.37983510_37983514del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/483353057",
        "rs": 483353057
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "",
          "end": 37983514,
          "referenceAllele": "ACGGG",
          "start": 37983509
        }
      ],
      "hgvs": [
        "NC_000022.11:g.37983510_37983514del",
        "CM000684.2:g.37983510_37983514del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "",
          "end": 38379521,
          "referenceAllele": "ACGGG",
          "start": 38379516
        }
      ],
      "hgvs": [
        "NC_000022.10:g.38379517_38379521del",
        "CM000684.1:g.38379517_38379521del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "",
          "end": 36709467,
          "referenceAllele": "ACGGG",
          "start": 36709462
        }
      ],
      "hgvs": [
        "NC_000022.9:g.36709463_36709467del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6023,
          "referenceAllele": "CCCGT",
          "start": 6018
        }
      ],
      "hgvs": [
        "NG_007948.1:g.6019_6023del",
        "LRG_271:g.6019_6023del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000716"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1147,
          "referenceAllele": "CCCGT",
          "start": 1142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011190",
      "geneNCBI_id": 6663,
      "geneSymbol": "SOX10",
      "hgvs": [
        "ENST00000698177.1:c.487_491del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513596.1:p.Pro163AlafsTer?",
        "hgvsWellDefined": "ENSP00000513596.1:p.[Pro163_Val164delinsAlaArgGln;Val166_Gly168delinsArgGlnGlnLysGln;Ser170_Pro174delinsAlaArgGlnAlaAla;Val176_Lys177delinsGlu;Pro179_Trp186delinsLeuHisGlyValGlySerGlySer;Ala189Glu;Arg191_Lys193del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909201"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 692,
          "referenceAllele": "CCCGT",
          "start": 687
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011190",
      "geneNCBI_id": 6663,
      "geneSymbol": "SOX10",
      "hgvs": [
        "ENST00000690831.1:c.271_275del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510381.1:p.Pro91AlafsTer?",
        "hgvsWellDefined": "ENSP00000510381.1:p.[Pro91_Val92delinsAlaArgGln;Val94_Gly96delinsArgGlnGlnLysGln;Ser98_Pro102delinsAlaArgGlnAlaAla;Val104_Lys105delinsGlu;Pro107_Trp114delinsLeuHisGlyValGlySerGlySer;Ala117Glu;Arg119_Lys121del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832898"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 576,
          "referenceAllele": "CCCGT",
          "start": 571
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011190",
      "geneNCBI_id": 6663,
      "geneSymbol": "SOX10",
      "hgvs": [
        "ENST00000396884.8:c.271_275del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380093.2:p.Pro91AlafsTer?",
        "hgvsWellDefined": "ENSP00000380093.2:p.[Pro91_Val92delinsAlaArgGln;Val94_Gly96delinsArgGlnGlnLysGln;Ser98_Pro102delinsAlaArgGlnAlaAla;Val104_Lys105delinsGlu;Pro107_Trp114delinsLeuHisGlyValGlySerGlySer;Ala117Glu;Arg119_Lys121del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753575",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000396884.8:c.271_275del"
          },
          "RefSeq": {
            "hgvs": "NM_006941.4:c.271_275del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000380093.2:p.Pro91AlafsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_008872.1:p.Pro91AlafsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 564,
          "referenceAllele": "CCCGT",
          "start": 559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011190",
      "geneNCBI_id": 6663,
      "geneSymbol": "SOX10",
      "hgvs": [
        "ENST00000652356.1:n.560_564del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772161"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 540,
          "referenceAllele": "CCCGT",
          "start": 535
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011190",
      "geneNCBI_id": 6663,
      "geneSymbol": "SOX10",
      "hgvs": [
        "ENST00000360880.6:c.271_275del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354130.2:p.Pro91AlafsTer?",
        "hgvsWellDefined": "ENSP00000354130.2:p.[Pro91_Val92delinsAlaArgGln;Val94_Gly96delinsArgGlnGlnLysGln;Ser98_Pro102delinsAlaArgGlnAlaAla;Val104_Lys105delinsGlu;Pro107_Trp114delinsLeuHisGlyValGlySerGlySer;Ala117Glu;Arg119_Lys121del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265281"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 558,
          "referenceAllele": "CCCGT",
          "start": 553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011190",
      "geneNCBI_id": 6663,
      "geneSymbol": "SOX10",
      "hgvs": [
        "ENST00000396884.6:c.271_275del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380093.2:p.Pro91AlafsTer?",
        "hgvsWellDefined": "ENSP00000380093.2:p.[Pro91_Val92delinsAlaArgGln;Val94_Gly96delinsArgGlnGlnLysGln;Ser98_Pro102delinsAlaArgGlnAlaAla;Val104_Lys105delinsGlu;Pro107_Trp114delinsLeuHisGlyValGlySerGlySer;Ala117Glu;Arg119_Lys121del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277488"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 370,
          "endIntronDirection": "+",
          "endIntronOffset": 16344,
          "referenceAllele": "ACGGG",
          "start": 370,
          "startIntronDirection": "+",
          "startIntronOffset": 16339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009193",
      "geneNCBI_id": 5435,
      "geneSymbol": "POLR2F",
      "hgvs": [
        "ENST00000405557.5:c.293+16340_293+16344del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384112.1:n.293+16340_293+16344del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280382"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 384,
          "endIntronDirection": "-",
          "endIntronOffset": 2639,
          "referenceAllele": "ACGGG",
          "start": 384,
          "startIntronDirection": "-",
          "startIntronOffset": 2644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009193",
      "geneNCBI_id": 5435,
      "geneSymbol": "POLR2F",
      "hgvs": [
        "ENST00000407936.5:c.294-2644_294-2640del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385725.1:n.294-2644_294-2640del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281053"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 507,
          "referenceAllele": "CCCGT",
          "start": 502
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011190",
      "geneNCBI_id": 6663,
      "geneSymbol": "SOX10",
      "hgvs": [
        "ENST00000427770.1:c.271_275del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414853.1:p.Pro91AlafsTer?",
        "hgvsWellDefined": "ENSP00000414853.1:p.[Pro91_Val92delinsAlaArgGln;Val94_Gly96delinsArgGlnGlnLysGln;Ser98_Pro102delinsAlaArgGlnAlaAla;Val104_Lys105delinsGlu;Pro107_Trp114delinsLeuHisGlyValGlySerGlySer;Ala117Glu;Arg119_Lys121del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS289865"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 463,
          "endIntronDirection": "-",
          "endIntronOffset": 1537,
          "referenceAllele": "ACGGG",
          "start": 463,
          "startIntronDirection": "-",
          "startIntronOffset": 1542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009193",
      "geneNCBI_id": 5435,
      "geneSymbol": "POLR2F",
      "hgvs": [
        "ENST00000443002.5:c.*39-1542_*39-1538del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406826.1:n.*39-1542_*39-1538del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS297139"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 70,
          "endIntronDirection": "+",
          "endIntronOffset": 829,
          "referenceAllele": "CCCGT",
          "start": 70,
          "startIntronDirection": "+",
          "startIntronOffset": 824
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011190",
      "geneNCBI_id": 6663,
      "geneSymbol": "SOX10",
      "hgvs": [
        "ENST00000470555.1:n.70+825_70+829del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS312959"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 418,
          "endIntronDirection": "-",
          "endIntronOffset": 2639,
          "referenceAllele": "ACGGG",
          "start": 418,
          "startIntronDirection": "-",
          "startIntronOffset": 2644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009193",
      "geneNCBI_id": 5435,
      "geneSymbol": "POLR2F",
      "hgvs": [
        "NM_001301130.1:c.294-2644_294-2640del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001288059.1:n.294-2644_294-2640del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025118"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 418,
          "endIntronDirection": "+",
          "endIntronOffset": 16344,
          "referenceAllele": "ACGGG",
          "start": 418,
          "startIntronDirection": "+",
          "startIntronOffset": 16339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009193",
      "geneNCBI_id": 5435,
      "geneSymbol": "POLR2F",
      "hgvs": [
        "NM_001301131.1:c.293+16340_293+16344del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001288060.1:n.293+16340_293+16344del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025119"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 553,
          "referenceAllele": "CCCGT",
          "start": 548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011190",
      "geneNCBI_id": 6663,
      "geneSymbol": "SOX10",
      "hgvs": [
        "NM_006941.3:c.271_275del",
        "LRG_271t1:c.271_275del"
      ],
      "proteinEffect": {
        "hgvs": "NP_008872.1:p.Pro91AlafsTer?",
        "hgvsWellDefined": "NP_008872.1:p.[Pro91_Val92delinsAlaArgGln;Val94_Gly96delinsArgGlnGlnLysGln;Ser98_Pro102delinsAlaArgGlnAlaAla;Val104_Lys105delinsGlu;Pro107_Trp114delinsLeuHisGlyValGlySerGlySer;Ala117Glu;Arg119_Lys121del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031913"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 158,
          "endIntronDirection": "+",
          "endIntronOffset": 11204,
          "referenceAllele": "ACGGG",
          "start": 158,
          "startIntronDirection": "+",
          "startIntronOffset": 11199
        }
      ],
      "hgvs": [
        "XR_938243.1:n.158+11200_158+11204del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS132945"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 499,
          "endIntronDirection": "+",
          "endIntronOffset": 11204,
          "referenceAllele": "ACGGG",
          "start": 499,
          "startIntronDirection": "+",
          "startIntronOffset": 11199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009193",
      "geneNCBI_id": 5435,
      "geneSymbol": "POLR2F",
      "hgvs": [
        "NM_001363825.1:c.*38+11200_*38+11204del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350754.1:n.*38+11200_*38+11204del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523584"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 382,
          "endIntronDirection": "-",
          "endIntronOffset": 2639,
          "referenceAllele": "ACGGG",
          "start": 382,
          "startIntronDirection": "-",
          "startIntronOffset": 2644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009193",
      "geneNCBI_id": 5435,
      "geneSymbol": "POLR2F",
      "hgvs": [
        "NM_001301130.2:c.294-2644_294-2640del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001288059.1:n.294-2644_294-2640del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683356"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 382,
          "endIntronDirection": "+",
          "endIntronOffset": 16344,
          "referenceAllele": "ACGGG",
          "start": 382,
          "startIntronDirection": "+",
          "startIntronOffset": 16339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009193",
      "geneNCBI_id": 5435,
      "geneSymbol": "POLR2F",
      "hgvs": [
        "NM_001301131.2:c.293+16340_293+16344del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001288060.1:n.293+16340_293+16344del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683357"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 576,
          "referenceAllele": "CCCGT",
          "start": 571
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011190",
      "geneNCBI_id": 6663,
      "geneSymbol": "SOX10",
      "hgvs": [
        "NM_006941.4:c.271_275del"
      ],
      "proteinEffect": {
        "hgvs": "NP_008872.1:p.Pro91AlafsTer?",
        "hgvsWellDefined": "NP_008872.1:p.[Pro91_Val92delinsAlaArgGln;Val94_Gly96delinsArgGlnGlnLysGln;Ser98_Pro102delinsAlaArgGlnAlaAla;Val104_Lys105delinsGlu;Pro107_Trp114delinsLeuHisGlyValGlySerGlySer;Ala117Glu;Arg119_Lys121del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696861",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000396884.8:c.271_275del"
          },
          "RefSeq": {
            "hgvs": "NM_006941.4:c.271_275del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000380093.2:p.Pro91AlafsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_008872.1:p.Pro91AlafsTer?"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}