{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA175071345",
  "communityStandardTitle": [
    "NM_000025.3(ADRB3):c.731_740del (p.Arg244ProfsTer?)"
  ],
  "externalRecords": {
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      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.37823248_37823257del?assembly=hg19",
        "id": "chr8:g.37823248_37823257del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.37965730_37965739del?assembly=hg38",
        "id": "chr8:g.37965730_37965739del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/569810926",
        "rs": 569810926
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-37965729-GGGCGGAAAGC-G?dataset=gnomad_r3",
        "id": "8-37965729-GGGCGGAAAGC-G",
        "variant": "8:37965729 GGGCGGAAAGC / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-37965729-GGGCGGAAAGC-G?dataset=gnomad_r4",
        "id": "8-37965729-GGGCGGAAAGC-G",
        "variant": "8:37965729 GGGCGGAAAGC / G"
      }
    ]
  },
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    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "",
          "end": 37965742,
          "referenceAllele": "GGAAAGCGGC",
          "start": 37965732
        }
      ],
      "hgvs": [
        "NC_000008.11:g.37965733_37965742del",
        "CM000670.2:g.37965733_37965742del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "",
          "end": 37823260,
          "referenceAllele": "GGAAAGCGGC",
          "start": 37823250
        }
      ],
      "hgvs": [
        "NC_000008.10:g.37823251_37823260del",
        "CM000670.1:g.37823251_37823260del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "",
          "end": 37942417,
          "referenceAllele": "GGAAAGCGGC",
          "start": 37942407
        }
      ],
      "hgvs": [
        "NC_000008.9:g.37942408_37942417del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5937,
          "referenceAllele": "TTCCGCCGCT",
          "start": 5927
        }
      ],
      "hgvs": [
        "NG_011936.1:g.5928_5937del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002062"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 870,
          "referenceAllele": "TTCCGCCGCT",
          "start": 860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "ENST00000345060.5:c.731_740del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343782.3:p.Arg244ProfsTer?",
        "hgvsWellDefined": "ENSP00000343782.3:p.[Arg244_Phe245del;Pro247_Glu249delinsArg;Pro251_Ser255delinsLeuArgArgArgArg;Ser257Ala;Ala259Trp;Ala261Arg;Val263_Cys266delinsArgTrpGlyArg;Pro268delinsLeuArg;Glu270Lys;Val272Cys;Ala274_Gly276delinsProAlaAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748270",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
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          "Ensembl": {
            "hgvs": "ENST00000345060.5:c.731_740del"
          },
          "RefSeq": {
            "hgvs": "NM_000025.3:c.731_740del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000343782.3:p.Arg244ProfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000016.1:p.Arg244ProfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 868,
          "referenceAllele": "TTCCGCCGCT",
          "start": 858
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "ENST00000520341.2:n.859_868del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS758684"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 224,
          "referenceAllele": "TTCCGCCGCT",
          "start": 214
        }
      ],
      "hgvs": [
        "ENST00000647937.1:c.215_224del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497740.1:p.Arg72ProfsTer?",
        "hgvsWellDefined": "ENSP00000497740.1:p.[Arg72_Phe73del;Pro75_Glu77delinsArg;Pro79_Ser83delinsLeuArgArgArgArg;Ser85Ala;Ala87Trp;Ala89Arg;Val91_Cys94delinsArgTrpGlyArg;Pro96delinsLeuArg;Glu98Lys;Val100Cys;Ala102_Gly104delinsProAlaAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769701"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1236,
          "referenceAllele": "TTCCGCCGCT",
          "start": 1226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "ENST00000345060.4:c.731_740del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343782.3:p.Arg244ProfsTer?",
        "hgvsWellDefined": "ENSP00000343782.3:p.[Arg244_Phe245del;Pro247_Glu249delinsArg;Pro251_Ser255delinsLeuArgArgArgArg;Ser257Ala;Ala259Trp;Ala261Arg;Val263_Cys266delinsArgTrpGlyArg;Pro268delinsLeuArg;Glu270Lys;Val272Cys;Ala274_Gly276delinsProAlaAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262124"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 15,
          "referenceAllele": "TTCCGCCGCT",
          "start": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "ENST00000520341.1:n.6_15del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS347406"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 937,
          "referenceAllele": "TTCCGCCGCT",
          "start": 927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "ENST00000614635.1:c.731_740del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480325.1:p.Arg244ProfsTer?",
        "hgvsWellDefined": "ENSP00000480325.1:p.[Arg244_Phe245del;Pro247_Glu249delinsArg;Pro251_Ser255delinsLeuArgArgArgArg;Ser257Ala;Ala259Trp;Ala261Arg;Val263_Cys266delinsArgTrpGlyArg;Pro268delinsLeuArg;Glu270Lys;Val272Cys;Ala274_Gly276delinsProAlaAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402283"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 937,
          "referenceAllele": "TTCCGCCGCT",
          "start": 927
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      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "NM_000025.2:c.731_740del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000016.1:p.Arg244ProfsTer?",
        "hgvsWellDefined": "NP_000016.1:p.[Arg244_Phe245del;Pro247_Glu249delinsArg;Pro251_Ser255delinsLeuArgArgArgArg;Ser257Ala;Ala259Trp;Ala261Arg;Val263_Cys266delinsArgTrpGlyArg;Pro268delinsLeuArg;Glu270Lys;Val272Cys;Ala274_Gly276delinsProAlaAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006090"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 870,
          "referenceAllele": "TTCCGCCGCT",
          "start": 860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "NM_000025.3:c.731_740del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000016.1:p.Arg244ProfsTer?",
        "hgvsWellDefined": "NP_000016.1:p.[Arg244_Phe245del;Pro247_Glu249delinsArg;Pro251_Ser255delinsLeuArgArgArgArg;Ser257Ala;Ala259Trp;Ala261Arg;Val263_Cys266delinsArgTrpGlyArg;Pro268delinsLeuArg;Glu270Lys;Val272Cys;Ala274_Gly276delinsProAlaAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662288",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345060.5:c.731_740del"
          },
          "RefSeq": {
            "hgvs": "NM_000025.3:c.731_740del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000343782.3:p.Arg244ProfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000016.1:p.Arg244ProfsTer?"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}