{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA630399129",
  "communityStandardTitle": [
    "NM_005912.3(MC4R):c.835_836del (p.Cys279LeufsTer6)"
  ],
  "externalRecords": {
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      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.58038747_58038748del?assembly=hg19",
        "id": "chr18:g.58038747_58038748del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.60371514_60371515del?assembly=hg38",
        "id": "chr18:g.60371514_60371515del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/193922687",
        "rs": 193922687
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-58038746-GCA-G?dataset=gnomad_r2_1",
        "id": "18-58038746-GCA-G",
        "variant": "18:58038746 GCA / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-60371513-GCA-G?dataset=gnomad_r4",
        "id": "18-60371513-GCA-G",
        "variant": "18:60371513 GCA / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "",
          "end": 60371521,
          "referenceAllele": "CA",
          "start": 60371519
        }
      ],
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        "CM000680.2:g.60371520_60371521del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000066"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "",
          "end": 58038754,
          "referenceAllele": "CA",
          "start": 58038752
        }
      ],
      "hgvs": [
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      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000042"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "",
          "end": 56189734,
          "referenceAllele": "CA",
          "start": 56189732
        }
      ],
      "hgvs": [
        "NC_000018.8:g.56189733_56189734del"
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      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000018"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6255,
          "referenceAllele": "TG",
          "start": 6253
        }
      ],
      "hgvs": [
        "NG_016441.1:g.6254_6255del"
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      "referenceSequence": "http://reg.genome.network/refseq/RS003190"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1262,
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        }
      ],
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      "geneNCBI_id": 4160,
      "geneSymbol": "MC4R",
      "hgvs": [
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      ],
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        "hgvsWellDefined": "ENSP00000299766.3:p.[Cys279_Ser282delinsLeu;Phe284_Asn294delinsVal;Ile296_Pro299del;Ile301_Glu308del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744707",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
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        },
        "protein": {
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            "hgvs": "ENSP00000299766.3:p.Cys279LeufsTer6"
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          "RefSeq": {
            "hgvs": "NP_005903.2:p.Cys279LeufsTer6"
          }
        }
      }
    },
    {
      "coordinates": [
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          "allele": "",
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      "gene": "http://reg.genome.network/gene/GN006932",
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000299766.3:p.[Cys279_Ser282delinsLeu;Phe284_Asn294delinsVal;Ile296_Pro299del;Ile301_Glu308del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254780"
    },
    {
      "coordinates": [
        {
          "allele": "",
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          "start": 1253
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      ],
      "gene": "http://reg.genome.network/gene/GN006932",
      "geneNCBI_id": 4160,
      "geneSymbol": "MC4R",
      "hgvs": [
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      ],
      "proteinEffect": {
        "hgvs": "NP_005903.2:p.Cys279LeufsTer6",
        "hgvsWellDefined": "NP_005903.2:p.[Cys279_Ser282delinsLeu;Phe284_Asn294delinsVal;Ile296_Pro299del;Ile301_Glu308del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030968"
    },
    {
      "coordinates": [
        {
          "allele": "",
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          "referenceAllele": "TG",
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      ],
      "proteinEffect": {
        "hgvs": "NP_005903.2:p.Cys279LeufsTer6",
        "hgvsWellDefined": "NP_005903.2:p.[Cys279_Ser282delinsLeu;Phe284_Asn294delinsVal;Ile296_Pro299del;Ile301_Glu308del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696559",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
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            "hgvs": "ENST00000299766.5:c.835_836del"
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          "RefSeq": {
            "hgvs": "NM_005912.3:c.835_836del"
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        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000299766.3:p.Cys279LeufsTer6"
          },
          "RefSeq": {
            "hgvs": "NP_005903.2:p.Cys279LeufsTer6"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}