{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA145414",
  "communityStandardTitle": [
    "NM_003737.4(DCHS1):c.2543del (p.Thr848AsnfsTer30)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=94552[alleleid]",
        "alleleId": 94552,
        "preferredName": "NM_003737.4(DCHS1):c.2543del (p.Thr848fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/88998",
        "RCV": [
          "RCV000074482"
        ],
        "variationId": 88998
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.6654200del?assembly=hg19",
        "id": "chr11:g.6654200del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.6632969del?assembly=hg38",
        "id": "chr11:g.6632969del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/483352918",
        "rs": 483352918
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "",
          "end": 6632969,
          "referenceAllele": "G",
          "start": 6632968
        }
      ],
      "hgvs": [
        "NC_000011.10:g.6632969del",
        "CM000673.2:g.6632969del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "",
          "end": 6654200,
          "referenceAllele": "G",
          "start": 6654199
        }
      ],
      "hgvs": [
        "NC_000011.9:g.6654200del",
        "CM000673.1:g.6654200del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "",
          "end": 6610776,
          "referenceAllele": "G",
          "start": 6610775
        }
      ],
      "hgvs": [
        "NC_000011.8:g.6610776del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 27881,
          "referenceAllele": "C",
          "start": 27880
        }
      ],
      "hgvs": [
        "NG_033858.1:g.27881del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005547"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 27881,
          "referenceAllele": "C",
          "start": 27880
        }
      ],
      "hgvs": [
        "NG_033858.2:g.27881del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673892"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2910,
          "referenceAllele": "C",
          "start": 2909
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013681",
      "geneNCBI_id": 8642,
      "geneSymbol": "DCHS1",
      "hgvs": [
        "ENST00000299441.5:c.2543del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000299441.3:p.Thr848AsnfsTer30"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744677",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000299441.5:c.2543del"
          },
          "RefSeq": {
            "hgvs": "NM_003737.4:c.2543del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000299441.3:p.Thr848AsnfsTer30"
          },
          "RefSeq": {
            "hgvs": "NP_003728.1:p.Thr848AsnfsTer30"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2955,
          "referenceAllele": "C",
          "start": 2954
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013681",
      "geneNCBI_id": 8642,
      "geneSymbol": "DCHS1",
      "hgvs": [
        "ENST00000299441.4:c.2543del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000299441.3:p.Thr848AsnfsTer30"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254726"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2950,
          "referenceAllele": "C",
          "start": 2949
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013681",
      "geneNCBI_id": 8642,
      "geneSymbol": "DCHS1",
      "hgvs": [
        "NM_003737.3:c.2543del"
      ],
      "proteinEffect": {
        "hgvs": "NP_003728.1:p.Thr848AsnfsTer30"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028958"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2910,
          "referenceAllele": "C",
          "start": 2909
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013681",
      "geneNCBI_id": 8642,
      "geneSymbol": "DCHS1",
      "hgvs": [
        "NM_003737.4:c.2543del"
      ],
      "proteinEffect": {
        "hgvs": "NP_003728.1:p.Thr848AsnfsTer30"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666156",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000299441.5:c.2543del"
          },
          "RefSeq": {
            "hgvs": "NM_003737.4:c.2543del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000299441.3:p.Thr848AsnfsTer30"
          },
          "RefSeq": {
            "hgvs": "NP_003728.1:p.Thr848AsnfsTer30"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}