{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA256771",
  "communityStandardTitle": [
    "NM_000939.4(POMC):c.403_404dup (p.Lys136AlafsTer23)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=28396[alleleid]",
        "alleleId": 28396,
        "preferredName": "NM_000939.4(POMC):c.403_404dup (p.Lys136fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/13357",
        "RCV": [
          "RCV000014285"
        ],
        "variationId": 13357
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.25384350_25384351dupCC?assembly=hg19",
        "id": "chr2:g.25384350_25384351dupCC"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.25384349_25384350insCC?assembly=hg19",
        "id": "chr2:g.25384349_25384350insCC"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.25161481_25161482dupCC?assembly=hg38",
        "id": "chr2:g.25161481_25161482dupCC"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.25161480_25161481insCC?assembly=hg38",
        "id": "chr2:g.25161480_25161481insCC"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/796065035",
        "rs": 796065035
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "CC",
          "end": 25161483,
          "referenceAllele": "",
          "start": 25161483
        }
      ],
      "hgvs": [
        "NC_000002.12:g.25161482_25161483dup",
        "CM000664.2:g.25161482_25161483dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "CC",
          "end": 25384352,
          "referenceAllele": "",
          "start": 25384352
        }
      ],
      "hgvs": [
        "NC_000002.11:g.25384351_25384352dup",
        "CM000664.1:g.25384351_25384352dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "CC",
          "end": 25237856,
          "referenceAllele": "",
          "start": 25237856
        }
      ],
      "hgvs": [
        "NC_000002.10:g.25237855_25237856dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "GG",
          "end": 12210,
          "referenceAllele": "",
          "start": 12210
        }
      ],
      "hgvs": [
        "NG_008997.1:g.12209_12210dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001368"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "GG",
          "end": 507,
          "referenceAllele": "",
          "start": 507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009201",
      "geneNCBI_id": 5443,
      "geneSymbol": "POMC",
      "hgvs": [
        "ENST00000395826.7:c.403_404dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379170.2:p.Lys136AlafsTer23",
        "hgvsWellDefined": "ENSP00000379170.2:p.[Lys136_Arg137delinsAla;Tyr139_Arg145delinsAlaProThrPro;Gly147_Val150delinsSerThrSerAla;Lys152_Lys153delinsAlaSer;Arg155_Asn162delinsTrpAlaArgSer;Ala164_Glu165insGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753445",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000395826.7:c.403_404dup"
          },
          "RefSeq": {
            "hgvs": "NM_000939.4:c.403_404dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379170.2:p.Lys136AlafsTer23"
          },
          "RefSeq": {
            "hgvs": "NP_000930.1:p.Lys136AlafsTer23"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "GG",
          "end": 578,
          "referenceAllele": "",
          "start": 578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009201",
      "geneNCBI_id": 5443,
      "geneSymbol": "POMC",
      "hgvs": [
        "ENST00000264708.7:c.403_404dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264708.3:p.Lys136AlafsTer23",
        "hgvsWellDefined": "ENSP00000264708.3:p.[Lys136_Arg137delinsAla;Tyr139_Arg145delinsAlaProThrPro;Gly147_Val150delinsSerThrSerAla;Lys152_Lys153delinsAlaSer;Arg155_Asn162delinsTrpAlaArgSer;Ala164_Glu165insGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251566"
    },
    {
      "coordinates": [
        {
          "allele": "GG",
          "end": 667,
          "referenceAllele": "",
          "start": 667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009201",
      "geneNCBI_id": 5443,
      "geneSymbol": "POMC",
      "hgvs": [
        "ENST00000380794.5:c.403_404dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000370171.1:p.Lys136AlafsTer23",
        "hgvsWellDefined": "ENSP00000370171.1:p.[Lys136_Arg137delinsAla;Tyr139_Arg145delinsAlaProThrPro;Gly147_Val150delinsSerThrSerAla;Lys152_Lys153delinsAlaSer;Arg155_Asn162delinsTrpAlaArgSer;Ala164_Glu165insGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273097"
    },
    {
      "coordinates": [
        {
          "allele": "GG",
          "end": 531,
          "referenceAllele": "",
          "start": 531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009201",
      "geneNCBI_id": 5443,
      "geneSymbol": "POMC",
      "hgvs": [
        "ENST00000395826.6:c.403_404dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379170.2:p.Lys136AlafsTer23",
        "hgvsWellDefined": "ENSP00000379170.2:p.[Lys136_Arg137delinsAla;Tyr139_Arg145delinsAlaProThrPro;Gly147_Val150delinsSerThrSerAla;Lys152_Lys153delinsAlaSer;Arg155_Asn162delinsTrpAlaArgSer;Ala164_Glu165insGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276931"
    },
    {
      "coordinates": [
        {
          "allele": "GG",
          "end": 860,
          "referenceAllele": "",
          "start": 860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009201",
      "geneNCBI_id": 5443,
      "geneSymbol": "POMC",
      "hgvs": [
        "ENST00000405623.5:c.403_404dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384092.1:p.Lys136AlafsTer23",
        "hgvsWellDefined": "ENSP00000384092.1:p.[Lys136_Arg137delinsAla;Tyr139_Arg145delinsAlaProThrPro;Gly147_Val150delinsSerThrSerAla;Lys152_Lys153delinsAlaSer;Arg155_Asn162delinsTrpAlaArgSer;Ala164_Glu165insGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280398"
    },
    {
      "coordinates": [
        {
          "allele": "GG",
          "end": 548,
          "referenceAllele": "",
          "start": 548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009201",
      "geneNCBI_id": 5443,
      "geneSymbol": "POMC",
      "hgvs": [
        "ENST00000449220.1:c.403_404dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387993.1:p.Lys136AlafsTer23",
        "hgvsWellDefined": "ENSP00000387993.1:p.[Lys136_Arg137delinsAla;Tyr139_Arg145delinsAlaProThrPro;Gly147_Val150delinsSerThrSerAla;Lys152_Lys153delinsAlaSer;Arg155_Asn162delinsTrpAlaArgSer;Ala164_Glu165insGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS300103"
    },
    {
      "coordinates": [
        {
          "allele": "GG",
          "end": 617,
          "referenceAllele": "",
          "start": 617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009201",
      "geneNCBI_id": 5443,
      "geneSymbol": "POMC",
      "hgvs": [
        "NM_000939.2:c.403_404dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000930.1:p.Lys136AlafsTer23",
        "hgvsWellDefined": "NP_000930.1:p.[Lys136_Arg137delinsAla;Tyr139_Arg145delinsAlaProThrPro;Gly147_Val150delinsSerThrSerAla;Lys152_Lys153delinsAlaSer;Arg155_Asn162delinsTrpAlaArgSer;Ala164_Glu165insGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006963"
    },
    {
      "coordinates": [
        {
          "allele": "GG",
          "end": 667,
          "referenceAllele": "",
          "start": 667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009201",
      "geneNCBI_id": 5443,
      "geneSymbol": "POMC",
      "hgvs": [
        "NM_001035256.1:c.403_404dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001030333.1:p.Lys136AlafsTer23",
        "hgvsWellDefined": "NP_001030333.1:p.[Lys136_Arg137delinsAla;Tyr139_Arg145delinsAlaProThrPro;Gly147_Val150delinsSerThrSerAla;Lys152_Lys153delinsAlaSer;Arg155_Asn162delinsTrpAlaArgSer;Ala164_Glu165insGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009215"
    },
    {
      "coordinates": [
        {
          "allele": "GG",
          "end": 828,
          "referenceAllele": "",
          "start": 828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009201",
      "geneNCBI_id": 5443,
      "geneSymbol": "POMC",
      "hgvs": [
        "XM_011532917.1:c.403_404dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531219.1:p.Lys136AlafsTer23",
        "hgvsWellDefined": "XP_011531219.1:p.[Lys136_Arg137delinsAla;Tyr139_Arg145delinsAlaProThrPro;Gly147_Val150delinsSerThrSerAla;Lys152_Lys153delinsAlaSer;Arg155_Asn162delinsTrpAlaArgSer;Ala164_Glu165insGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099943"
    },
    {
      "coordinates": [
        {
          "allele": "GG",
          "end": 778,
          "referenceAllele": "",
          "start": 778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009201",
      "geneNCBI_id": 5443,
      "geneSymbol": "POMC",
      "hgvs": [
        "NM_000939.3:c.403_404dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000930.1:p.Lys136AlafsTer23",
        "hgvsWellDefined": "NP_000930.1:p.[Lys136_Arg137delinsAla;Tyr139_Arg145delinsAlaProThrPro;Gly147_Val150delinsSerThrSerAla;Lys152_Lys153delinsAlaSer;Arg155_Asn162delinsTrpAlaArgSer;Ala164_Glu165insGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510874"
    },
    {
      "coordinates": [
        {
          "allele": "GG",
          "end": 828,
          "referenceAllele": "",
          "start": 828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009201",
      "geneNCBI_id": 5443,
      "geneSymbol": "POMC",
      "hgvs": [
        "NM_001035256.2:c.403_404dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001030333.1:p.Lys136AlafsTer23",
        "hgvsWellDefined": "NP_001030333.1:p.[Lys136_Arg137delinsAla;Tyr139_Arg145delinsAlaProThrPro;Gly147_Val150delinsSerThrSerAla;Lys152_Lys153delinsAlaSer;Arg155_Asn162delinsTrpAlaArgSer;Ala164_Glu165insGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511116"
    },
    {
      "coordinates": [
        {
          "allele": "GG",
          "end": 858,
          "referenceAllele": "",
          "start": 858
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009201",
      "geneNCBI_id": 5443,
      "geneSymbol": "POMC",
      "hgvs": [
        "NM_001319204.1:c.403_404dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001306133.1:p.Lys136AlafsTer23",
        "hgvsWellDefined": "NP_001306133.1:p.[Lys136_Arg137delinsAla;Tyr139_Arg145delinsAlaProThrPro;Gly147_Val150delinsSerThrSerAla;Lys152_Lys153delinsAlaSer;Arg155_Asn162delinsTrpAlaArgSer;Ala164_Glu165insGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513305"
    },
    {
      "coordinates": [
        {
          "allele": "GG",
          "end": 808,
          "referenceAllele": "",
          "start": 808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009201",
      "geneNCBI_id": 5443,
      "geneSymbol": "POMC",
      "hgvs": [
        "NM_001319205.1:c.403_404dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001306134.1:p.Lys136AlafsTer23",
        "hgvsWellDefined": "NP_001306134.1:p.[Lys136_Arg137delinsAla;Tyr139_Arg145delinsAlaProThrPro;Gly147_Val150delinsSerThrSerAla;Lys152_Lys153delinsAlaSer;Arg155_Asn162delinsTrpAlaArgSer;Ala164_Glu165insGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513306"
    },
    {
      "coordinates": [
        {
          "allele": "GG",
          "end": 507,
          "referenceAllele": "",
          "start": 507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009201",
      "geneNCBI_id": 5443,
      "geneSymbol": "POMC",
      "hgvs": [
        "NM_000939.4:c.403_404dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000930.1:p.Lys136AlafsTer23",
        "hgvsWellDefined": "NP_000930.1:p.[Lys136_Arg137delinsAla;Tyr139_Arg145delinsAlaProThrPro;Gly147_Val150delinsSerThrSerAla;Lys152_Lys153delinsAlaSer;Arg155_Asn162delinsTrpAlaArgSer;Ala164_Glu165insGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662655",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000395826.7:c.403_404dup"
          },
          "RefSeq": {
            "hgvs": "NM_000939.4:c.403_404dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379170.2:p.Lys136AlafsTer23"
          },
          "RefSeq": {
            "hgvs": "NP_000930.1:p.Lys136AlafsTer23"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "GG",
          "end": 587,
          "referenceAllele": "",
          "start": 587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009201",
      "geneNCBI_id": 5443,
      "geneSymbol": "POMC",
      "hgvs": [
        "NM_001319204.2:c.403_404dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001306133.1:p.Lys136AlafsTer23",
        "hgvsWellDefined": "NP_001306133.1:p.[Lys136_Arg137delinsAla;Tyr139_Arg145delinsAlaProThrPro;Gly147_Val150delinsSerThrSerAla;Lys152_Lys153delinsAlaSer;Arg155_Asn162delinsTrpAlaArgSer;Ala164_Glu165insGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684759"
    },
    {
      "coordinates": [
        {
          "allele": "GG",
          "end": 537,
          "referenceAllele": "",
          "start": 537
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009201",
      "geneNCBI_id": 5443,
      "geneSymbol": "POMC",
      "hgvs": [
        "NM_001319205.2:c.403_404dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001306134.1:p.Lys136AlafsTer23",
        "hgvsWellDefined": "NP_001306134.1:p.[Lys136_Arg137delinsAla;Tyr139_Arg145delinsAlaProThrPro;Gly147_Val150delinsSerThrSerAla;Lys152_Lys153delinsAlaSer;Arg155_Asn162delinsTrpAlaArgSer;Ala164_Glu165insGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684760"
    },
    {
      "coordinates": [
        {
          "allele": "GG",
          "end": 557,
          "referenceAllele": "",
          "start": 557
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009201",
      "geneNCBI_id": 5443,
      "geneSymbol": "POMC",
      "hgvs": [
        "NM_001035256.3:c.403_404dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001030333.1:p.Lys136AlafsTer23",
        "hgvsWellDefined": "NP_001030333.1:p.[Lys136_Arg137delinsAla;Tyr139_Arg145delinsAlaProThrPro;Gly147_Val150delinsSerThrSerAla;Lys152_Lys153delinsAlaSer;Arg155_Asn162delinsTrpAlaArgSer;Ala164_Glu165insGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711559"
    }
  ],
  "type": "nucleotide"
}