{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10603618",
  "communityStandardTitle": [
    "NM_000529.2(MC2R):c.579_581del (p.Tyr193Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=265044[alleleid]",
        "alleleId": 265044,
        "preferredName": "NM_000529.2(MC2R):c.579_581del (p.Tyr193_Val194delinsTer)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/279974",
        "RCV": [
          "RCV000259861"
        ],
        "variationId": 279974
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.13884937_13884939del?assembly=hg19",
        "id": "chr18:g.13884937_13884939del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.13884938_13884940del?assembly=hg38",
        "id": "chr18:g.13884938_13884940del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/886041294",
        "rs": 886041294
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "",
          "end": 13884940,
          "referenceAllele": "ACA",
          "start": 13884937
        }
      ],
      "hgvs": [
        "NC_000018.10:g.13884938_13884940del",
        "CM000680.2:g.13884938_13884940del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000066"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "",
          "end": 13884939,
          "referenceAllele": "ACA",
          "start": 13884936
        }
      ],
      "hgvs": [
        "NC_000018.9:g.13884937_13884939del",
        "CM000680.1:g.13884937_13884939del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000042"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "",
          "end": 13874939,
          "referenceAllele": "ACA",
          "start": 13874936
        }
      ],
      "hgvs": [
        "NC_000018.8:g.13874937_13874939del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000018"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 35599,
          "referenceAllele": "TGT",
          "start": 35596
        }
      ],
      "hgvs": [
        "NG_011819.1:g.35597_35599del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002002"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 758,
          "referenceAllele": "TGT",
          "start": 755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006930",
      "geneNCBI_id": 4158,
      "geneSymbol": "MC2R",
      "hgvs": [
        "ENST00000327606.4:c.579_581del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000333821.2:p.Tyr193Ter",
        "hgvsWellDefined": "ENSP00000333821.2:p.Tyr193_Trp297delinsValHisMetPheLeuLeuAlaArgSerHisThrArgLysIleSerThrLeuProArgAlaAsnMetLysGlyAlaIleThrLeuThrIleLeuLeuGlyValPheIlePheCysTrpAlaProPheValLeuHisValLeuLeuMetThrPheCysProSerAsnProTyrCysAlaCysTyrMetSerLeuPheGlnValAsnGlyMetLeuIleMetCysAsnAlaValIleAspProPheIleTyrAlaPheArgSerProGluLeuArgAspAlaPheLysLysMetIlePheCysSerArgTyrTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746852",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000327606.4:c.579_581del"
          },
          "RefSeq": {
            "hgvs": "NM_000529.2:c.579_581del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000333821.2:p.Tyr193Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000520.1:p.Tyr193Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 762,
          "referenceAllele": "TGT",
          "start": 759
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006930",
      "geneNCBI_id": 4158,
      "geneSymbol": "MC2R",
      "hgvs": [
        "ENST00000327606.3:c.579_581del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000333821.2:p.Tyr193Ter",
        "hgvsWellDefined": "ENSP00000333821.2:p.Tyr193_Trp297delinsValHisMetPheLeuLeuAlaArgSerHisThrArgLysIleSerThrLeuProArgAlaAsnMetLysGlyAlaIleThrLeuThrIleLeuLeuGlyValPheIlePheCysTrpAlaProPheValLeuHisValLeuLeuMetThrPheCysProSerAsnProTyrCysAlaCysTyrMetSerLeuPheGlnValAsnGlyMetLeuIleMetCysAsnAlaValIleAspProPheIleTyrAlaPheArgSerProGluLeuArgAspAlaPheLysLysMetIlePheCysSerArgTyrTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258794"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645464113",
      "coordinates": [
        {
          "allele": "",
          "end": 758,
          "referenceAllele": "TGT",
          "start": 755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006930",
      "geneNCBI_id": 4158,
      "geneSymbol": "MC2R",
      "hgvs": [
        "NM_000529.2:c.579_581del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000520.1:p.Tyr193Ter",
        "hgvsWellDefined": "NP_000520.1:p.Tyr193_Trp297delinsValHisMetPheLeuLeuAlaArgSerHisThrArgLysIleSerThrLeuProArgAlaAsnMetLysGlyAlaIleThrLeuThrIleLeuLeuGlyValPheIlePheCysTrpAlaProPheValLeuHisValLeuLeuMetThrPheCysProSerAsnProTyrCysAlaCysTyrMetSerLeuPheGlnValAsnGlyMetLeuIleMetCysAsnAlaValIleAspProPheIleTyrAlaPheArgSerProGluLeuArgAspAlaPheLysLysMetIlePheCysSerArgTyrTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006586",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000327606.4:c.579_581del"
          },
          "RefSeq": {
            "hgvs": "NM_000529.2:c.579_581del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000333821.2:p.Tyr193Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000520.1:p.Tyr193Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916018333",
      "coordinates": [
        {
          "allele": "",
          "end": 787,
          "referenceAllele": "TGT",
          "start": 784
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006930",
      "geneNCBI_id": 4158,
      "geneSymbol": "MC2R",
      "hgvs": [
        "NM_001291911.1:c.579_581del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278840.1:p.Tyr193Ter",
        "hgvsWellDefined": "NP_001278840.1:p.Tyr193_Trp297delinsValHisMetPheLeuLeuAlaArgSerHisThrArgLysIleSerThrLeuProArgAlaAsnMetLysGlyAlaIleThrLeuThrIleLeuLeuGlyValPheIlePheCysTrpAlaProPheValLeuHisValLeuLeuMetThrPheCysProSerAsnProTyrCysAlaCysTyrMetSerLeuPheGlnValAsnGlyMetLeuIleMetCysAsnAlaValIleAspProPheIleTyrAlaPheArgSerProGluLeuArgAspAlaPheLysLysMetIlePheCysSerArgTyrTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024368"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1380,
          "referenceAllele": "TGT",
          "start": 1377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006930",
      "geneNCBI_id": 4158,
      "geneSymbol": "MC2R",
      "hgvs": [
        "XM_017025781.1:c.579_581del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881270.1:p.Tyr193Ter",
        "hgvsWellDefined": "XP_016881270.1:p.Tyr193_Trp297delinsValHisMetPheLeuLeuAlaArgSerHisThrArgLysIleSerThrLeuProArgAlaAsnMetLysGlyAlaIleThrLeuThrIleLeuLeuGlyValPheIlePheCysTrpAlaProPheValLeuHisValLeuLeuMetThrPheCysProSerAsnProTyrCysAlaCysTyrMetSerLeuPheGlnValAsnGlyMetLeuIleMetCysAsnAlaValIleAspProPheIleTyrAlaPheArgSerProGluLeuArgAspAlaPheLysLysMetIlePheCysSerArgTyrTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576069"
    }
  ],
  "type": "nucleotide"
}