{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3038705103",
  "communityStandardTitle": [
    "NM_000025.3(ADRB3):c.639_640del (p.Phe213LeufsTer?)"
  ],
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "",
          "end": 37965832,
          "referenceAllele": "GA",
          "start": 37965830
        }
      ],
      "hgvs": [
        "NC_000008.11:g.37965831_37965832del",
        "CM000670.2:g.37965831_37965832del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "",
          "end": 37823350,
          "referenceAllele": "GA",
          "start": 37823348
        }
      ],
      "hgvs": [
        "NC_000008.10:g.37823349_37823350del",
        "CM000670.1:g.37823349_37823350del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "",
          "end": 37942507,
          "referenceAllele": "GA",
          "start": 37942505
        }
      ],
      "hgvs": [
        "NC_000008.9:g.37942506_37942507del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5837,
          "referenceAllele": "TC",
          "start": 5835
        }
      ],
      "hgvs": [
        "NG_011936.1:g.5836_5837del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002062"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 770,
          "referenceAllele": "TC",
          "start": 768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "ENST00000345060.5:c.639_640del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343782.3:p.Phe213LeufsTer?",
        "hgvsWellDefined": "ENSP00000343782.3:p.[Phe213_Met220delinsLeuProSerSerSerArgAspAla;Phe222_Tyr224delinsArgLeuArg;Arg226_Val230delinsGlyPheArgGlyGlyTyr;Thr232_Gln234delinsProAlaAla;Arg236_Leu238delinsAlaAla;Glu241_Leu242delinsAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748270",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345060.5:c.639_640del"
          },
          "RefSeq": {
            "hgvs": "NM_000025.3:c.639_640del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000343782.3:p.Phe213LeufsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000016.1:p.Phe213LeufsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 768,
          "referenceAllele": "TC",
          "start": 766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "ENST00000520341.2:n.767_768del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS758684"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 124,
          "referenceAllele": "TC",
          "start": 122
        }
      ],
      "hgvs": [
        "ENST00000647937.1:c.123_124del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497740.1:p.Phe41LeufsTer?",
        "hgvsWellDefined": "ENSP00000497740.1:p.[Phe41_Met48delinsLeuProSerSerSerArgAspAla;Phe50_Tyr52delinsArgLeuArg;Arg54_Val58delinsGlyPheArgGlyGlyTyr;Thr60_Gln62delinsProAlaAla;Arg64_Leu66delinsAlaAla;Glu69_Leu70delinsAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769701"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1136,
          "referenceAllele": "TC",
          "start": 1134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "ENST00000345060.4:c.639_640del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343782.3:p.Phe213LeufsTer?",
        "hgvsWellDefined": "ENSP00000343782.3:p.[Phe213_Met220delinsLeuProSerSerSerArgAspAla;Phe222_Tyr224delinsArgLeuArg;Arg226_Val230delinsGlyPheArgGlyGlyTyr;Thr232_Gln234delinsProAlaAla;Arg236_Leu238delinsAlaAla;Glu241_Leu242delinsAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262124"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 837,
          "referenceAllele": "TC",
          "start": 835
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "ENST00000614635.1:c.639_640del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480325.1:p.Phe213LeufsTer?",
        "hgvsWellDefined": "ENSP00000480325.1:p.[Phe213_Met220delinsLeuProSerSerSerArgAspAla;Phe222_Tyr224delinsArgLeuArg;Arg226_Val230delinsGlyPheArgGlyGlyTyr;Thr232_Gln234delinsProAlaAla;Arg236_Leu238delinsAlaAla;Glu241_Leu242delinsAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402283"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 837,
          "referenceAllele": "TC",
          "start": 835
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "NM_000025.2:c.639_640del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000016.1:p.Phe213LeufsTer?",
        "hgvsWellDefined": "NP_000016.1:p.[Phe213_Met220delinsLeuProSerSerSerArgAspAla;Phe222_Tyr224delinsArgLeuArg;Arg226_Val230delinsGlyPheArgGlyGlyTyr;Thr232_Gln234delinsProAlaAla;Arg236_Leu238delinsAlaAla;Glu241_Leu242delinsAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006090"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 770,
          "referenceAllele": "TC",
          "start": 768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "NM_000025.3:c.639_640del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000016.1:p.Phe213LeufsTer?",
        "hgvsWellDefined": "NP_000016.1:p.[Phe213_Met220delinsLeuProSerSerSerArgAspAla;Phe222_Tyr224delinsArgLeuArg;Arg226_Val230delinsGlyPheArgGlyGlyTyr;Thr232_Gln234delinsProAlaAla;Arg236_Leu238delinsAlaAla;Glu241_Leu242delinsAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662288",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345060.5:c.639_640del"
          },
          "RefSeq": {
            "hgvs": "NM_000025.3:c.639_640del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000343782.3:p.Phe213LeufsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000016.1:p.Phe213LeufsTer?"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}