{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA214148",
  "communityStandardTitle": [
    "NM_005912.3(MC4R):c.835_836dup (p.Phe280AlafsTer12)"
  ],
  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=45149[alleleid]",
        "alleleId": 45149,
        "preferredName": "NM_005912.3(MC4R):c.835_836dup (p.Phe280fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/36487",
        "RCV": [
          "RCV000030159",
          "RCV002281046",
          "RCV002496462",
          "RCV003415745",
          "RCV004017270"
        ],
        "variationId": 36487
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/18-58038746-G-GCA",
        "id": "18-58038746-G-GCA",
        "variant": "18:58038746 G / GCA"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.58038747_58038748dupCA?assembly=hg19",
        "id": "chr18:g.58038747_58038748dupCA"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.58038748_58038749insCA?assembly=hg19",
        "id": "chr18:g.58038748_58038749insCA"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.58038746_58038747insCA?assembly=hg19",
        "id": "chr18:g.58038746_58038747insCA"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.60371514_60371515dupCA?assembly=hg38",
        "id": "chr18:g.60371514_60371515dupCA"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.60371513_60371514insCA?assembly=hg38",
        "id": "chr18:g.60371513_60371514insCA"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/193922687",
        "rs": 193922687
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-58038746-G-GCA?dataset=gnomad_r2_1",
        "id": "18-58038746-G-GCA",
        "variant": "18:58038746 G / GCA"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-60371513-G-GCA?dataset=gnomad_r4",
        "id": "18-60371513-G-GCA",
        "variant": "18:60371513 G / GCA"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "CA",
          "end": 60371521,
          "referenceAllele": "",
          "start": 60371521
        }
      ],
      "hgvs": [
        "NC_000018.10:g.60371520_60371521dup",
        "CM000680.2:g.60371520_60371521dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000066"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "CA",
          "end": 58038754,
          "referenceAllele": "",
          "start": 58038754
        }
      ],
      "hgvs": [
        "NC_000018.9:g.58038753_58038754dup",
        "CM000680.1:g.58038753_58038754dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000042"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "CA",
          "end": 56189734,
          "referenceAllele": "",
          "start": 56189734
        }
      ],
      "hgvs": [
        "NC_000018.8:g.56189733_56189734dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000018"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 6255,
          "referenceAllele": "",
          "start": 6255
        }
      ],
      "hgvs": [
        "NG_016441.1:g.6254_6255dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003190"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1262,
          "referenceAllele": "",
          "start": 1262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006932",
      "geneNCBI_id": 4160,
      "geneSymbol": "MC4R",
      "hgvs": [
        "ENST00000299766.5:c.835_836dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000299766.3:p.Phe280AlafsTer12",
        "hgvsWellDefined": "ENSP00000299766.3:p.[Phe280_Met281delinsAla;His283_Asn285delinsCys;Tyr287Thr;Ile289_Leu290delinsThrCys;Met292_Asn294del;Ile296_Ile301del;Ala303_Glu308del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744707",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000299766.5:c.835_836dup"
          },
          "RefSeq": {
            "hgvs": "NM_005912.3:c.835_836dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000299766.3:p.Phe280AlafsTer12"
          },
          "RefSeq": {
            "hgvs": "NP_005903.2:p.Phe280AlafsTer12"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1262,
          "referenceAllele": "",
          "start": 1262
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      ],
      "gene": "http://reg.genome.network/gene/GN006932",
      "geneNCBI_id": 4160,
      "geneSymbol": "MC4R",
      "hgvs": [
        "ENST00000299766.4:c.835_836dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000299766.3:p.Phe280AlafsTer12",
        "hgvsWellDefined": "ENSP00000299766.3:p.[Phe280_Met281delinsAla;His283_Asn285delinsCys;Tyr287Thr;Ile289_Leu290delinsThrCys;Met292_Asn294del;Ile296_Ile301del;Ala303_Glu308del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254780"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1255,
          "referenceAllele": "",
          "start": 1255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006932",
      "geneNCBI_id": 4160,
      "geneSymbol": "MC4R",
      "hgvs": [
        "NM_005912.2:c.835_836dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_005903.2:p.Phe280AlafsTer12",
        "hgvsWellDefined": "NP_005903.2:p.[Phe280_Met281delinsAla;His283_Asn285delinsCys;Tyr287Thr;Ile289_Leu290delinsThrCys;Met292_Asn294del;Ile296_Ile301del;Ala303_Glu308del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030968"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1262,
          "referenceAllele": "",
          "start": 1262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006932",
      "geneNCBI_id": 4160,
      "geneSymbol": "MC4R",
      "hgvs": [
        "NM_005912.3:c.835_836dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_005903.2:p.Phe280AlafsTer12",
        "hgvsWellDefined": "NP_005903.2:p.[Phe280_Met281delinsAla;His283_Asn285delinsCys;Tyr287Thr;Ile289_Leu290delinsThrCys;Met292_Asn294del;Ile296_Ile301del;Ala303_Glu308del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696559",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000299766.5:c.835_836dup"
          },
          "RefSeq": {
            "hgvs": "NM_005912.3:c.835_836dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000299766.3:p.Phe280AlafsTer12"
          },
          "RefSeq": {
            "hgvs": "NP_005903.2:p.Phe280AlafsTer12"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}