{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA7770276",
  "communityStandardTitle": [
    "NM_000558.5(HBA1):c.328del (p.Leu110TrpfsTer24)"
  ],
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1321708[alleleid]",
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        "preferredName": "NM_000558.5(HBA1):c.328del (p.Leu110fs)"
      }
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1331033",
        "RCV": [
          "RCV001812582",
          "RCV002250774",
          "RCV002482328"
        ],
        "variationId": 1331033
      }
    ],
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      {
        "@id": "http://exac.broadinstitute.org/variant/16-227306-AC-A",
        "id": "16-227306-AC-A",
        "variant": "16:227306 AC / A"
      }
    ],
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      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.227307del?assembly=hg19",
        "id": "chr16:g.227307del"
      }
    ],
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      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.177308del?assembly=hg38",
        "id": "chr16:g.177308del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/281864535",
        "rs": 281864535
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-227306-AC-A?dataset=gnomad_r2_1",
        "id": "16-227306-AC-A",
        "variant": "16:227306 AC / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-177307-AC-A?dataset=gnomad_r4",
        "id": "16-177307-AC-A",
        "variant": "16:177307 AC / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "",
          "end": 177310,
          "referenceAllele": "C",
          "start": 177309
        }
      ],
      "hgvs": [
        "NC_000016.10:g.177310del",
        "CM000678.2:g.177310del"
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "",
          "end": 227309,
          "referenceAllele": "C",
          "start": 227308
        }
      ],
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      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "",
          "end": 167309,
          "referenceAllele": "C",
          "start": 167308
        }
      ],
      "hgvs": [
        "NC_000016.8:g.167309del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 38173,
          "referenceAllele": "C",
          "start": 38172
        }
      ],
      "hgvs": [
        "NG_000006.1:g.38173del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000434"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5660,
          "referenceAllele": "C",
          "start": 5659
        }
      ],
      "hgvs": [
        "NG_059186.1:g.5660del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617596"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 365,
          "referenceAllele": "C",
          "start": 364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004823",
      "geneNCBI_id": 3039,
      "geneSymbol": "HBA1",
      "hgvs": [
        "ENST00000320868.9:c.328del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000322421.5:p.Leu110TrpfsTer24",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257870",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
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          "Ensembl": {
            "hgvs": "ENST00000320868.9:c.328del"
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          "RefSeq": {
            "hgvs": "NM_000558.5:c.328del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000322421.5:p.Leu110TrpfsTer24"
          },
          "RefSeq": {
            "hgvs": "NP_000549.1:p.Leu110TrpfsTer24"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 292,
          "referenceAllele": "C",
          "start": 291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004823",
      "geneNCBI_id": 3039,
      "geneSymbol": "HBA1",
      "hgvs": [
        "ENST00000397797.1:c.232del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380899.1:p.Leu78TrpfsTer24",
        "hgvsWellDefined": "ENSP00000380899.1:p.[Leu78_Leu82delinsTrpProProThrSer;Ala84_Thr87delinsProSerSer;Ala89_Ala99delinsLeuArgCysThrProProTrpThr;Val101del;Thr103_Val104delinsTrpLeu;Thr106_Ser107del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277984"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 464,
          "referenceAllele": "C",
          "start": 463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004823",
      "geneNCBI_id": 3039,
      "geneSymbol": "HBA1",
      "hgvs": [
        "ENST00000472694.1:n.464del"
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      "referenceSequence": "http://reg.genome.network/refseq/RS314608"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 394,
          "referenceAllele": "C",
          "start": 393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004823",
      "geneNCBI_id": 3039,
      "geneSymbol": "HBA1",
      "hgvs": [
        "NM_000558.4:c.328del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000549.1:p.Leu110TrpfsTer24",
        "hgvsWellDefined": "NP_000549.1:p.[Leu110_Leu114delinsTrpProProThrSer;Ala116_Thr119delinsProSerSer;Ala121_Ala131delinsLeuArgCysThrProProTrpThr;Val133del;Thr135_Val136delinsTrpLeu;Thr138_Ser139del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006616"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 365,
          "referenceAllele": "C",
          "start": 364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004823",
      "geneNCBI_id": 3039,
      "geneSymbol": "HBA1",
      "hgvs": [
        "NM_000558.5:c.328del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000549.1:p.Leu110TrpfsTer24",
        "hgvsWellDefined": "NP_000549.1:p.[Leu110_Leu114delinsTrpProProThrSer;Ala116_Thr119delinsProSerSer;Ala121_Ala131delinsLeuArgCysThrProProTrpThr;Val133del;Thr135_Val136delinsTrpLeu;Thr138_Ser139del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510815",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000320868.9:c.328del"
          },
          "RefSeq": {
            "hgvs": "NM_000558.5:c.328del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000322421.5:p.Leu110TrpfsTer24"
          },
          "RefSeq": {
            "hgvs": "NP_000549.1:p.Leu110TrpfsTer24"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}