{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2732931170",
  "communityStandardTitle": [
    "NM_002386.4(MC1R):c.86del (p.Asn29ThrfsTer23)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/796296176",
        "rs": 796296176
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "",
          "end": 89919344,
          "referenceAllele": "A",
          "start": 89919343
        }
      ],
      "hgvs": [
        "NC_000016.10:g.89919344del",
        "CM000678.2:g.89919344del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "",
          "end": 89985752,
          "referenceAllele": "A",
          "start": 89985751
        }
      ],
      "hgvs": [
        "NC_000016.9:g.89985752del",
        "CM000678.1:g.89985752del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "",
          "end": 88513253,
          "referenceAllele": "A",
          "start": 88513252
        }
      ],
      "hgvs": [
        "NC_000016.8:g.88513253del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6466,
          "referenceAllele": "A",
          "start": 6465
        }
      ],
      "hgvs": [
        "NG_012026.1:g.6466del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002114"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2336,
          "referenceAllele": "A",
          "start": 2335
        }
      ],
      "hgvs": [
        "NG_027810.1:g.2336del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003975"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 483,
          "referenceAllele": "A",
          "start": 482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006929",
      "geneNCBI_id": 4157,
      "geneSymbol": "MC1R",
      "hgvs": [
        "ENST00000555147.2:c.86del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451605.1:p.Asn29ThrfsTer23",
        "hgvsWellDefined": "ENSP00000451605.1:p.[Asn29delinsThrArg;Thr31delinsGluPro;Ala33_Arg34insTrp;Leu36_Val38delinsPro;Ile40_Asp42delinsLeuThr;Leu44_Leu46delinsSer;Leu48_Val51del;Leu53_Leu58delinsAlaTrpGlyTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760119",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000555147.2:c.86del"
          },
          "RefSeq": {
            "hgvs": "NM_002386.4:c.86del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000451605.1:p.Asn29ThrfsTer23"
          },
          "RefSeq": {
            "hgvs": "NP_002377.4:p.Asn29ThrfsTer23"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 960,
          "referenceAllele": "A",
          "start": 959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006929",
      "geneNCBI_id": 4157,
      "geneSymbol": "MC1R",
      "hgvs": [
        "ENST00000639847.1:c.86del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492011.1:p.Asn29ThrfsTer23",
        "hgvsWellDefined": "ENSP00000492011.1:p.[Asn29delinsThrArg;Thr31delinsGluPro;Ala33_Arg34insTrp;Leu36_Val38delinsPro;Ile40_Asp42delinsLeuThr;Leu44_Leu46delinsSer;Leu48_Val51del;Leu53_Leu58delinsAlaTrpGlyTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765206"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1466,
          "referenceAllele": "A",
          "start": 1465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006929",
      "geneNCBI_id": 4157,
      "geneSymbol": "MC1R",
      "hgvs": [
        "ENST00000555147.1:c.86del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451605.1:p.Asn29ThrfsTer23",
        "hgvsWellDefined": "ENSP00000451605.1:p.[Asn29delinsThrArg;Thr31delinsGluPro;Ala33_Arg34insTrp;Leu36_Val38delinsPro;Ile40_Asp42delinsLeuThr;Leu44_Leu46delinsSer;Leu48_Val51del;Leu53_Leu58delinsAlaTrpGlyTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS371203"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2389,
          "referenceAllele": "A",
          "start": 2388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006929",
      "geneNCBI_id": 4157,
      "geneSymbol": "MC1R",
      "hgvs": [
        "ENST00000555427.1:c.86del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451760.1:p.Asn29ThrfsTer23",
        "hgvsWellDefined": "ENSP00000451760.1:p.[Asn29delinsThrArg;Thr31delinsGluPro;Ala33_Arg34insTrp;Leu36_Val38delinsPro;Ile40_Asp42delinsLeuThr;Leu44_Leu46delinsSer;Leu48_Val51del;Leu53_Leu58delinsAlaTrpGlyTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS371426"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 180,
          "referenceAllele": "A",
          "start": 179
        }
      ],
      "hgvs": [
        "ENST00000556922.1:c.86del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451560.1:p.Asn29ThrfsTer23",
        "hgvsWellDefined": "ENSP00000451560.1:p.[Asn29delinsThrArg;Thr31delinsGluPro;Ala33_Arg34insTrp;Leu36_Val38delinsPro;Ile40_Asp42delinsLeuThr;Leu44_Leu46delinsSer;Leu48_Val51del;Leu53_Leu58delinsAlaTrpGlyTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS372602"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1466,
          "referenceAllele": "A",
          "start": 1465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006929",
      "geneNCBI_id": 4157,
      "geneSymbol": "MC1R",
      "hgvs": [
        "NM_002386.3:c.86del"
      ],
      "proteinEffect": {
        "hgvs": "NP_002377.4:p.Asn29ThrfsTer23",
        "hgvsWellDefined": "NP_002377.4:p.[Asn29delinsThrArg;Thr31delinsGluPro;Ala33_Arg34insTrp;Leu36_Val38delinsPro;Ile40_Asp42delinsLeuThr;Leu44_Leu46delinsSer;Leu48_Val51del;Leu53_Leu58delinsAlaTrpGlyTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027692"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 483,
          "referenceAllele": "A",
          "start": 482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006929",
      "geneNCBI_id": 4157,
      "geneSymbol": "MC1R",
      "hgvs": [
        "NM_002386.4:c.86del"
      ],
      "proteinEffect": {
        "hgvs": "NP_002377.4:p.Asn29ThrfsTer23",
        "hgvsWellDefined": "NP_002377.4:p.[Asn29delinsThrArg;Thr31delinsGluPro;Ala33_Arg34insTrp;Leu36_Val38delinsPro;Ile40_Asp42delinsLeuThr;Leu44_Leu46delinsSer;Leu48_Val51del;Leu53_Leu58delinsAlaTrpGlyTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695529",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000555147.2:c.86del"
          },
          "RefSeq": {
            "hgvs": "NM_002386.4:c.86del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000451605.1:p.Asn29ThrfsTer23"
          },
          "RefSeq": {
            "hgvs": "NP_002377.4:p.Asn29ThrfsTer23"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}