{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA261263",
  "communityStandardTitle": [
    "NM_000307.5(POU3F4):c.950dup (p.Leu317PhefsTer12)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=49893[alleleid]",
        "alleleId": 49893,
        "preferredName": "NM_000307.5(POU3F4):c.950dup (p.Leu317fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/41457",
        "RCV": [
          "RCV000034343"
        ],
        "variationId": 41457
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.82764282dupT?assembly=hg19",
        "id": "chrX:g.82764282dupT"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.83509274dupT?assembly=hg38",
        "id": "chrX:g.83509274dupT"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/398122516",
        "rs": 398122516
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 83509274,
          "referenceAllele": "",
          "start": 83509274
        }
      ],
      "hgvs": [
        "NC_000023.11:g.83509274dup",
        "CM000685.2:g.83509274dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 82764282,
          "referenceAllele": "",
          "start": 82764282
        }
      ],
      "hgvs": [
        "NC_000023.10:g.82764282dup",
        "CM000685.1:g.82764282dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 82650938,
          "referenceAllele": "",
          "start": 82650938
        }
      ],
      "hgvs": [
        "NC_000023.9:g.82650938dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6014,
          "referenceAllele": "",
          "start": 6014
        }
      ],
      "hgvs": [
        "NG_009936.2:g.6014dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001702"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 985,
          "referenceAllele": "",
          "start": 985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009217",
      "geneNCBI_id": 5456,
      "geneSymbol": "POU3F4",
      "hgvs": [
        "ENST00000644024.2:c.950dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495996.1:p.Leu317PhefsTer12",
        "hgvsWellDefined": "ENSP00000495996.1:p.[Leu317_Trp325del;Cys327_Lys332delinsGly;Lys334_Pro339delinsGlySer;Asp341_Glu346delinsAlaCysLeuValLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767594",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000644024.2:c.950dup"
          },
          "RefSeq": {
            "hgvs": "NM_000307.5:c.950dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495996.1:p.Leu317PhefsTer12"
          },
          "RefSeq": {
            "hgvs": "NP_000298.3:p.Leu317PhefsTer12"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1025,
          "referenceAllele": "",
          "start": 1025
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009217",
      "geneNCBI_id": 5456,
      "geneSymbol": "POU3F4",
      "hgvs": [
        "ENST00000373200.4:c.950dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362296.2:p.Leu317PhefsTer12",
        "hgvsWellDefined": "ENSP00000362296.2:p.[Leu317_Trp325del;Cys327_Lys332delinsGly;Lys334_Pro339delinsGlySer;Asp341_Glu346delinsAlaCysLeuValLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269557"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1014,
          "referenceAllele": "",
          "start": 1014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009217",
      "geneNCBI_id": 5456,
      "geneSymbol": "POU3F4",
      "hgvs": [
        "NM_000307.4:c.950dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000298.3:p.Leu317PhefsTer12",
        "hgvsWellDefined": "NP_000298.3:p.[Leu317_Trp325del;Cys327_Lys332delinsGly;Lys334_Pro339delinsGlySer;Asp341_Glu346delinsAlaCysLeuValLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006368"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 985,
          "referenceAllele": "",
          "start": 985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009217",
      "geneNCBI_id": 5456,
      "geneSymbol": "POU3F4",
      "hgvs": [
        "NM_000307.5:c.950dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000298.3:p.Leu317PhefsTer12",
        "hgvsWellDefined": "NP_000298.3:p.[Leu317_Trp325del;Cys327_Lys332delinsGly;Lys334_Pro339delinsGlySer;Asp341_Glu346delinsAlaCysLeuValLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674781",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000644024.2:c.950dup"
          },
          "RefSeq": {
            "hgvs": "NM_000307.5:c.950dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495996.1:p.Leu317PhefsTer12"
          },
          "RefSeq": {
            "hgvs": "NP_000298.3:p.Leu317PhefsTer12"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}