{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2968110023",
  "communityStandardTitle": [
    "NM_000025.3(ADRB3):c.650_651del (p.Leu217ProfsTer?)"
  ],
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "",
          "end": 37965820,
          "referenceAllele": "AA",
          "start": 37965818
        }
      ],
      "hgvs": [
        "NC_000008.11:g.37965819_37965820del",
        "CM000670.2:g.37965819_37965820del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "",
          "end": 37823338,
          "referenceAllele": "AA",
          "start": 37823336
        }
      ],
      "hgvs": [
        "NC_000008.10:g.37823337_37823338del",
        "CM000670.1:g.37823337_37823338del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "",
          "end": 37942495,
          "referenceAllele": "AA",
          "start": 37942493
        }
      ],
      "hgvs": [
        "NC_000008.9:g.37942494_37942495del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5848,
          "referenceAllele": "TT",
          "start": 5846
        }
      ],
      "hgvs": [
        "NG_011936.1:g.5847_5848del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002062"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 781,
          "referenceAllele": "TT",
          "start": 779
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "ENST00000345060.5:c.650_651del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343782.3:p.Leu217ProfsTer?",
        "hgvsWellDefined": "ENSP00000343782.3:p.[Leu217_Met220delinsProArgAspAla;Phe222_Tyr224delinsArgLeuArg;Arg226_Val230delinsGlyPheArgGlyGlyTyr;Thr232_Gln234delinsProAlaAla;Arg236_Leu238delinsAlaAla;Glu241_Leu242delinsAla;Arg244_Pro247delinsProLeuSerAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748270",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345060.5:c.650_651del"
          },
          "RefSeq": {
            "hgvs": "NM_000025.3:c.650_651del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000343782.3:p.Leu217ProfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000016.1:p.Leu217ProfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 779,
          "referenceAllele": "TT",
          "start": 777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "ENST00000520341.2:n.778_779del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS758684"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 135,
          "referenceAllele": "TT",
          "start": 133
        }
      ],
      "hgvs": [
        "ENST00000647937.1:c.134_135del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497740.1:p.Leu45ProfsTer?",
        "hgvsWellDefined": "ENSP00000497740.1:p.[Leu45_Met48delinsProArgAspAla;Phe50_Tyr52delinsArgLeuArg;Arg54_Val58delinsGlyPheArgGlyGlyTyr;Thr60_Gln62delinsProAlaAla;Arg64_Leu66delinsAlaAla;Glu69_Leu70delinsAla;Arg72_Pro75delinsProLeuSerAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769701"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1147,
          "referenceAllele": "TT",
          "start": 1145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "ENST00000345060.4:c.650_651del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343782.3:p.Leu217ProfsTer?",
        "hgvsWellDefined": "ENSP00000343782.3:p.[Leu217_Met220delinsProArgAspAla;Phe222_Tyr224delinsArgLeuArg;Arg226_Val230delinsGlyPheArgGlyGlyTyr;Thr232_Gln234delinsProAlaAla;Arg236_Leu238delinsAlaAla;Glu241_Leu242delinsAla;Arg244_Pro247delinsProLeuSerAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262124"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 848,
          "referenceAllele": "TT",
          "start": 846
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "ENST00000614635.1:c.650_651del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480325.1:p.Leu217ProfsTer?",
        "hgvsWellDefined": "ENSP00000480325.1:p.[Leu217_Met220delinsProArgAspAla;Phe222_Tyr224delinsArgLeuArg;Arg226_Val230delinsGlyPheArgGlyGlyTyr;Thr232_Gln234delinsProAlaAla;Arg236_Leu238delinsAlaAla;Glu241_Leu242delinsAla;Arg244_Pro247delinsProLeuSerAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402283"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 848,
          "referenceAllele": "TT",
          "start": 846
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "NM_000025.2:c.650_651del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000016.1:p.Leu217ProfsTer?",
        "hgvsWellDefined": "NP_000016.1:p.[Leu217_Met220delinsProArgAspAla;Phe222_Tyr224delinsArgLeuArg;Arg226_Val230delinsGlyPheArgGlyGlyTyr;Thr232_Gln234delinsProAlaAla;Arg236_Leu238delinsAlaAla;Glu241_Leu242delinsAla;Arg244_Pro247delinsProLeuSerAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006090"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 781,
          "referenceAllele": "TT",
          "start": 779
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "NM_000025.3:c.650_651del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000016.1:p.Leu217ProfsTer?",
        "hgvsWellDefined": "NP_000016.1:p.[Leu217_Met220delinsProArgAspAla;Phe222_Tyr224delinsArgLeuArg;Arg226_Val230delinsGlyPheArgGlyGlyTyr;Thr232_Gln234delinsProAlaAla;Arg236_Leu238delinsAlaAla;Glu241_Leu242delinsAla;Arg244_Pro247delinsProLeuSerAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662288",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345060.5:c.650_651del"
          },
          "RefSeq": {
            "hgvs": "NM_000025.3:c.650_651del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000343782.3:p.Leu217ProfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000016.1:p.Leu217ProfsTer?"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}