{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2968110012",
  "communityStandardTitle": [
    "NM_000025.3(ADRB3):c.657del (p.Met220CysfsTer?)"
  ],
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "",
          "end": 37965813,
          "referenceAllele": "C",
          "start": 37965812
        }
      ],
      "hgvs": [
        "NC_000008.11:g.37965813del",
        "CM000670.2:g.37965813del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "",
          "end": 37823331,
          "referenceAllele": "C",
          "start": 37823330
        }
      ],
      "hgvs": [
        "NC_000008.10:g.37823331del",
        "CM000670.1:g.37823331del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "",
          "end": 37942488,
          "referenceAllele": "C",
          "start": 37942487
        }
      ],
      "hgvs": [
        "NC_000008.9:g.37942488del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5854,
          "referenceAllele": "G",
          "start": 5853
        }
      ],
      "hgvs": [
        "NG_011936.1:g.5854del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002062"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 787,
          "referenceAllele": "G",
          "start": 786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "ENST00000345060.5:c.657del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343782.3:p.Met220CysfsTer?",
        "hgvsWellDefined": "ENSP00000343782.3:p.[Met220_Ala225delinsCysSerSerSerThr;Val227Gly;Val229_Thr232delinsSerTrpTrpLeu;Gln234_Arg239delinsAlaSerCysAlaCysCysAla;Glu241_Arg244delinsSerTrpAlaAla;Pro246Arg;Glu248_Glu249delinsArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748270",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345060.5:c.657del"
          },
          "RefSeq": {
            "hgvs": "NM_000025.3:c.657del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000343782.3:p.Met220CysfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000016.1:p.Met220CysfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 785,
          "referenceAllele": "G",
          "start": 784
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "ENST00000520341.2:n.785del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS758684"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 141,
          "referenceAllele": "G",
          "start": 140
        }
      ],
      "hgvs": [
        "ENST00000647937.1:c.141del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497740.1:p.Met48CysfsTer?",
        "hgvsWellDefined": "ENSP00000497740.1:p.[Met48_Ala53delinsCysSerSerSerThr;Val55Gly;Val57_Thr60delinsSerTrpTrpLeu;Gln62_Arg67delinsAlaSerCysAlaCysCysAla;Glu69_Arg72delinsSerTrpAlaAla;Pro74Arg;Glu76_Glu77delinsArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769701"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1153,
          "referenceAllele": "G",
          "start": 1152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "ENST00000345060.4:c.657del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343782.3:p.Met220CysfsTer?",
        "hgvsWellDefined": "ENSP00000343782.3:p.[Met220_Ala225delinsCysSerSerSerThr;Val227Gly;Val229_Thr232delinsSerTrpTrpLeu;Gln234_Arg239delinsAlaSerCysAlaCysCysAla;Glu241_Arg244delinsSerTrpAlaAla;Pro246Arg;Glu248_Glu249delinsArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262124"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 854,
          "referenceAllele": "G",
          "start": 853
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "ENST00000614635.1:c.657del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480325.1:p.Met220CysfsTer?",
        "hgvsWellDefined": "ENSP00000480325.1:p.[Met220_Ala225delinsCysSerSerSerThr;Val227Gly;Val229_Thr232delinsSerTrpTrpLeu;Gln234_Arg239delinsAlaSerCysAlaCysCysAla;Glu241_Arg244delinsSerTrpAlaAla;Pro246Arg;Glu248_Glu249delinsArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402283"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 854,
          "referenceAllele": "G",
          "start": 853
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "NM_000025.2:c.657del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000016.1:p.Met220CysfsTer?",
        "hgvsWellDefined": "NP_000016.1:p.[Met220_Ala225delinsCysSerSerSerThr;Val227Gly;Val229_Thr232delinsSerTrpTrpLeu;Gln234_Arg239delinsAlaSerCysAlaCysCysAla;Glu241_Arg244delinsSerTrpAlaAla;Pro246Arg;Glu248_Glu249delinsArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006090"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 787,
          "referenceAllele": "G",
          "start": 786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "NM_000025.3:c.657del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000016.1:p.Met220CysfsTer?",
        "hgvsWellDefined": "NP_000016.1:p.[Met220_Ala225delinsCysSerSerSerThr;Val227Gly;Val229_Thr232delinsSerTrpTrpLeu;Gln234_Arg239delinsAlaSerCysAlaCysCysAla;Glu241_Arg244delinsSerTrpAlaAla;Pro246Arg;Glu248_Glu249delinsArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662288",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345060.5:c.657del"
          },
          "RefSeq": {
            "hgvs": "NM_000025.3:c.657del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000343782.3:p.Met220CysfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000016.1:p.Met220CysfsTer?"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}