{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA534634770",
  "communityStandardTitle": [
    "NM_000682.7(ADRA2B):c.893_900dup (p.Glu301LysfsTer?)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.96780988_96780989insCTCCTCTT?assembly=hg19",
        "id": "chr2:g.96780988_96780989insCTCCTCTT"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.96115249_96115250insCTCCTCTT?assembly=hg38",
        "id": "chr2:g.96115249_96115250insCTCCTCTT"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/28365031",
        "rs": 28365031
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-96780988-C-CCTCCTCTT?dataset=gnomad_r2_1",
        "id": "2-96780988-C-CCTCCTCTT",
        "variant": "2:96780988 C / CCTCCTCTT"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "TCCTCTTC",
          "end": 96115258,
          "referenceAllele": "",
          "start": 96115258
        }
      ],
      "hgvs": [
        "NC_000002.12:g.96115251_96115258dup",
        "CM000664.2:g.96115251_96115258dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "TCCTCTTC",
          "end": 96780997,
          "referenceAllele": "",
          "start": 96780997
        }
      ],
      "hgvs": [
        "NC_000002.11:g.96780990_96780997dup",
        "CM000664.1:g.96780990_96780997dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "TCCTCTTC",
          "end": 96144724,
          "referenceAllele": "",
          "start": 96144724
        }
      ],
      "hgvs": [
        "NC_000002.10:g.96144717_96144724dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "AGAGGAGA",
          "end": 5900,
          "referenceAllele": "",
          "start": 5900
        }
      ],
      "hgvs": [
        "NG_032950.1:g.5893_5900dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005307"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "AGAGGAGA",
          "end": 1322,
          "referenceAllele": "",
          "start": 1322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000282",
      "geneNCBI_id": 151,
      "geneSymbol": "ADRA2B",
      "hgvs": [
        "ENST00000620793.2:c.893_900dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480573.1:p.Glu301LysfsTer?",
        "hgvsWellDefined": "ENSP00000480573.1:p.[Glu301_Glu311delinsLysArgArgLysArgArgArgArgArgArgLysSerValAsn;Pro312_Gln313insArg;Ala314_Ser318delinsCysGlnCysLeuArg;Ala320_Ser321delinsGlnLeu;Cys323_Ser324delinsAla;Pro326_Pro330delinsArgCysSerSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762300",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000620793.2:c.893_900dup"
          },
          "RefSeq": {
            "hgvs": "NM_000682.7:c.893_900dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000480573.1:p.Glu301LysfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000673.2:p.Glu301LysfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "AGAGGAGA",
          "end": 996,
          "referenceAllele": "",
          "start": 996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000282",
      "geneNCBI_id": 151,
      "geneSymbol": "ADRA2B",
      "hgvs": [
        "ENST00000620793.1:c.893_900dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480573.1:p.Glu301LysfsTer?",
        "hgvsWellDefined": "ENSP00000480573.1:p.[Glu301_Glu311delinsLysArgArgLysArgArgArgArgArgArgLysSerValAsn;Pro312_Gln313insArg;Ala314_Ser318delinsCysGlnCysLeuArg;Ala320_Ser321delinsGlnLeu;Cys323_Ser324delinsAla;Pro326_Pro330delinsArgCysSerSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404983"
    },
    {
      "coordinates": [
        {
          "allele": "AGAGGAGA",
          "end": 996,
          "referenceAllele": "",
          "start": 996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000282",
      "geneNCBI_id": 151,
      "geneSymbol": "ADRA2B",
      "hgvs": [
        "NM_000682.6:c.893_900dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000673.2:p.Glu301LysfsTer?",
        "hgvsWellDefined": "NP_000673.2:p.[Glu301_Glu311delinsLysArgArgLysArgArgArgArgArgArgLysSerValAsn;Pro312_Gln313insArg;Ala314_Ser318delinsCysGlnCysLeuArg;Ala320_Ser321delinsGlnLeu;Cys323_Ser324delinsAla;Pro326_Pro330delinsArgCysSerSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006722"
    },
    {
      "coordinates": [
        {
          "allele": "AGAGGAGA",
          "end": 1322,
          "referenceAllele": "",
          "start": 1322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000282",
      "geneNCBI_id": 151,
      "geneSymbol": "ADRA2B",
      "hgvs": [
        "NM_000682.7:c.893_900dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000673.2:p.Glu301LysfsTer?",
        "hgvsWellDefined": "NP_000673.2:p.[Glu301_Glu311delinsLysArgArgLysArgArgArgArgArgArgLysSerValAsn;Pro312_Gln313insArg;Ala314_Ser318delinsCysGlnCysLeuArg;Ala320_Ser321delinsGlnLeu;Cys323_Ser324delinsAla;Pro326_Pro330delinsArgCysSerSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662530",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000620793.2:c.893_900dup"
          },
          "RefSeq": {
            "hgvs": "NM_000682.7:c.893_900dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000480573.1:p.Glu301LysfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000673.2:p.Glu301LysfsTer?"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}