{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA276414654",
  "communityStandardTitle": [
    "NM_000517.6(HBA2):c.149_150del (p.Ser50ThrfsTer7)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3715391[alleleid]",
        "alleleId": 3715391,
        "preferredName": "NM_000517.6(HBA2):c.149_150del (p.Ser50fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3579875",
        "RCV": [
          "RCV005007582"
        ],
        "variationId": 3579875
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.223177_223178del?assembly=hg19",
        "id": "chr16:g.223177_223178del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.173178_173179del?assembly=hg38",
        "id": "chr16:g.173178_173179del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/63750531",
        "rs": 63750531
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "",
          "end": 173179,
          "referenceAllele": "GC",
          "start": 173177
        }
      ],
      "hgvs": [
        "NC_000016.10:g.173178_173179del",
        "CM000678.2:g.173178_173179del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "",
          "end": 223178,
          "referenceAllele": "GC",
          "start": 223176
        }
      ],
      "hgvs": [
        "NC_000016.9:g.223177_223178del",
        "CM000678.1:g.223177_223178del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "",
          "end": 163178,
          "referenceAllele": "GC",
          "start": 163176
        }
      ],
      "hgvs": [
        "NC_000016.8:g.163177_163178del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 34042,
          "referenceAllele": "GC",
          "start": 34040
        }
      ],
      "hgvs": [
        "NG_000006.1:g.34041_34042del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000434"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1529,
          "referenceAllele": "GC",
          "start": 1527
        }
      ],
      "hgvs": [
        "NG_059186.1:g.1528_1529del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617596"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5333,
          "referenceAllele": "GC",
          "start": 5331
        }
      ],
      "hgvs": [
        "NG_059271.1:g.5332_5333del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617597"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 187,
          "referenceAllele": "GC",
          "start": 185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004824",
      "geneNCBI_id": 3040,
      "geneSymbol": "HBA2",
      "hgvs": [
        "ENST00000251595.11:c.149_150del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000251595.6:p.Ser50ThrfsTer7",
        "hgvsWellDefined": "ENSP00000251595.6:p.[Ser50_Ala66delinsThrArg;Thr68_Met77delinsCys;Asn79_Ala80delinsGly]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741486",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000251595.11:c.149_150del"
          },
          "RefSeq": {
            "hgvs": "NM_000517.6:c.149_150del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000251595.6:p.Ser50ThrfsTer7"
          },
          "RefSeq": {
            "hgvs": "NP_000508.1:p.Ser50ThrfsTer7"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 216,
          "referenceAllele": "GC",
          "start": 214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004824",
      "geneNCBI_id": 3040,
      "geneSymbol": "HBA2",
      "hgvs": [
        "ENST00000251595.10:c.149_150del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000251595.6:p.Ser50ThrfsTer7",
        "hgvsWellDefined": "ENSP00000251595.6:p.[Ser50_Ala66delinsThrArg;Thr68_Met77delinsCys;Asn79_Ala80delinsGly]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249750"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 124,
          "referenceAllele": "GC",
          "start": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004824",
      "geneNCBI_id": 3040,
      "geneSymbol": "HBA2",
      "hgvs": [
        "ENST00000397806.1:c.53_54del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380908.1:p.Ser18ThrfsTer7",
        "hgvsWellDefined": "ENSP00000380908.1:p.[Ser18_Ala34delinsThrArg;Thr36_Met45delinsCys;Asn47_Ala48delinsGly]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277990"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 286,
          "referenceAllele": "GC",
          "start": 284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004824",
      "geneNCBI_id": 3040,
      "geneSymbol": "HBA2",
      "hgvs": [
        "ENST00000482565.1:n.285_286del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS322226"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 119,
          "referenceAllele": "GC",
          "start": 117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004824",
      "geneNCBI_id": 3040,
      "geneSymbol": "HBA2",
      "hgvs": [
        "ENST00000484216.1:n.118_119del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS323518"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 216,
          "referenceAllele": "GC",
          "start": 214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004824",
      "geneNCBI_id": 3040,
      "geneSymbol": "HBA2",
      "hgvs": [
        "NM_000517.4:c.149_150del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000508.1:p.Ser50ThrfsTer7",
        "hgvsWellDefined": "NP_000508.1:p.[Ser50_Ala66delinsThrArg;Thr68_Met77delinsCys;Asn79_Ala80delinsGly]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006574"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 187,
          "referenceAllele": "GC",
          "start": 185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004824",
      "geneNCBI_id": 3040,
      "geneSymbol": "HBA2",
      "hgvs": [
        "NM_000517.6:c.149_150del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000508.1:p.Ser50ThrfsTer7",
        "hgvsWellDefined": "NP_000508.1:p.[Ser50_Ala66delinsThrArg;Thr68_Met77delinsCys;Asn79_Ala80delinsGly]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510807",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000251595.11:c.149_150del"
          },
          "RefSeq": {
            "hgvs": "NM_000517.6:c.149_150del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000251595.6:p.Ser50ThrfsTer7"
          },
          "RefSeq": {
            "hgvs": "NP_000508.1:p.Ser50ThrfsTer7"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}