{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA658655999",
  "communityStandardTitle": [
    "NM_000441.2(SLC26A4):c.1708-27_1708-11del"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=439907[alleleid]",
        "alleleId": 439907,
        "preferredName": "NM_000441.2(SLC26A4):c.1708-27_1708-11del"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/446460",
        "RCV": [
          "RCV000515681"
        ],
        "variationId": 446460
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.107341519_107341535del?assembly=hg19",
        "id": "chr7:g.107341519_107341535del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.107701074_107701090del?assembly=hg38",
        "id": "chr7:g.107701074_107701090del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1554360816",
        "rs": 1554360816
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "",
          "end": 107701090,
          "referenceAllele": "TAAGTAACTTGACATTT",
          "start": 107701073
        }
      ],
      "hgvs": [
        "NC_000007.14:g.107701074_107701090del",
        "CM000669.2:g.107701074_107701090del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "",
          "end": 107341535,
          "referenceAllele": "TAAGTAACTTGACATTT",
          "start": 107341518
        }
      ],
      "hgvs": [
        "NC_000007.13:g.107341519_107341535del",
        "CM000669.1:g.107341519_107341535del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "",
          "end": 107128771,
          "referenceAllele": "TAAGTAACTTGACATTT",
          "start": 107128754
        }
      ],
      "hgvs": [
        "NC_000007.12:g.107128755_107128771del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 45456,
          "referenceAllele": "TAAGTAACTTGACATTT",
          "start": 45439
        }
      ],
      "hgvs": [
        "NG_008489.1:g.45440_45456del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001119"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1738,
          "endIntronDirection": "-",
          "endIntronOffset": 10,
          "referenceAllele": "TAAGTAACTTGACATTT",
          "start": 1738,
          "startIntronDirection": "-",
          "startIntronOffset": 27
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008818",
      "geneNCBI_id": 5172,
      "geneSymbol": "SLC26A4",
      "hgvs": [
        "ENST00000644269.2:c.1708-27_1708-11del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494017.1:n.1708-27_1708-11del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767734",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000644269.2:c.1708-27_1708-11del"
          },
          "RefSeq": {
            "hgvs": "NM_000441.2:c.1708-27_1708-11del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000494017.1:n.1708-27_1708-11del"
          },
          "RefSeq": {
            "hgvs": "NP_000432.1:n.1708-27_1708-11del"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 418,
          "endIntronDirection": "-",
          "endIntronOffset": 10,
          "referenceAllele": "TAAGTAACTTGACATTT",
          "start": 418,
          "startIntronDirection": "-",
          "startIntronOffset": 27
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008818",
      "geneNCBI_id": 5172,
      "geneSymbol": "SLC26A4",
      "hgvs": [
        "ENST00000644846.1:c.419-27_419-11del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768030"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1931,
          "endIntronDirection": "-",
          "endIntronOffset": 10,
          "referenceAllele": "TAAGTAACTTGACATTT",
          "start": 1931,
          "startIntronDirection": "-",
          "startIntronOffset": 27
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008818",
      "geneNCBI_id": 5172,
      "geneSymbol": "SLC26A4",
      "hgvs": [
        "ENST00000265715.7:c.1708-27_1708-11del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265715.3:n.1708-27_1708-11del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251803"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 556,
          "endIntronDirection": "-",
          "endIntronOffset": 10,
          "referenceAllele": "TAAGTAACTTGACATTT",
          "start": 556,
          "startIntronDirection": "-",
          "startIntronOffset": 27
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008818",
      "geneNCBI_id": 5172,
      "geneSymbol": "SLC26A4",
      "hgvs": [
        "ENST00000480841.5:n.557-27_557-11del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS320892"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 90,
          "endIntronDirection": "-",
          "endIntronOffset": 736,
          "referenceAllele": "TAAGTAACTTGACATTT",
          "start": 90,
          "startIntronDirection": "-",
          "startIntronOffset": 753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008818",
      "geneNCBI_id": 5172,
      "geneSymbol": "SLC26A4",
      "hgvs": [
        "ENST00000492030.2:n.91-753_91-737del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS329503"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1931,
          "endIntronDirection": "-",
          "endIntronOffset": 10,
          "referenceAllele": "TAAGTAACTTGACATTT",
          "start": 1931,
          "startIntronDirection": "-",
          "startIntronOffset": 27
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008818",
      "geneNCBI_id": 5172,
      "geneSymbol": "SLC26A4",
      "hgvs": [
        "NM_000441.1:c.1708-27_1708-11del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000432.1:n.1708-27_1708-11del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006503"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1914,
          "endIntronDirection": "-",
          "endIntronOffset": 10,
          "referenceAllele": "TAAGTAACTTGACATTT",
          "start": 1914,
          "startIntronDirection": "-",
          "startIntronOffset": 27
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008818",
      "geneNCBI_id": 5172,
      "geneSymbol": "SLC26A4",
      "hgvs": [
        "XM_005250425.1:c.1708-27_1708-11del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005250482.1:n.1708-27_1708-11del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059167"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1914,
          "endIntronDirection": "-",
          "endIntronOffset": 10,
          "referenceAllele": "TAAGTAACTTGACATTT",
          "start": 1914,
          "startIntronDirection": "-",
          "startIntronOffset": 27
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008818",
      "geneNCBI_id": 5172,
      "geneSymbol": "SLC26A4",
      "hgvs": [
        "XM_005250425.2:c.1708-27_1708-11del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005250482.1:n.1708-27_1708-11del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533435"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1632,
          "endIntronDirection": "-",
          "endIntronOffset": 10,
          "referenceAllele": "TAAGTAACTTGACATTT",
          "start": 1632,
          "startIntronDirection": "-",
          "startIntronOffset": 27
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008818",
      "geneNCBI_id": 5172,
      "geneSymbol": "SLC26A4",
      "hgvs": [
        "XM_017012318.1:c.1630-27_1630-11del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867807.1:n.1630-27_1630-11del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565948"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1738,
          "endIntronDirection": "-",
          "endIntronOffset": 10,
          "referenceAllele": "TAAGTAACTTGACATTT",
          "start": 1738,
          "startIntronDirection": "-",
          "startIntronOffset": 27
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008818",
      "geneNCBI_id": 5172,
      "geneSymbol": "SLC26A4",
      "hgvs": [
        "NM_000441.2:c.1708-27_1708-11del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000432.1:n.1708-27_1708-11del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674847",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000644269.2:c.1708-27_1708-11del"
          },
          "RefSeq": {
            "hgvs": "NM_000441.2:c.1708-27_1708-11del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000494017.1:n.1708-27_1708-11del"
          },
          "RefSeq": {
            "hgvs": "NP_000432.1:n.1708-27_1708-11del"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}