{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA125275",
  "communityStandardTitle": [
    "NM_000518.5(HBB):c.383_385del (p.Gln128_Ala129delinsPro)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=30449[alleleid]",
        "alleleId": 30449,
        "preferredName": "NM_000518.5(HBB):c.383_385del (p.Gln128_Ala129delinsPro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/15410",
        "RCV": [
          "RCV000016665"
        ],
        "variationId": 15410
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.5246887_5246889del?assembly=hg19",
        "id": "chr11:g.5246887_5246889del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.5225657_5225659del?assembly=hg38",
        "id": "chr11:g.5225657_5225659del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/34502690",
        "rs": 34502690
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "",
          "end": 5225659,
          "referenceAllele": "CCT",
          "start": 5225656
        }
      ],
      "hgvs": [
        "NC_000011.10:g.5225657_5225659del",
        "CM000673.2:g.5225657_5225659del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "",
          "end": 5246889,
          "referenceAllele": "CCT",
          "start": 5246886
        }
      ],
      "hgvs": [
        "NC_000011.9:g.5246887_5246889del",
        "CM000673.1:g.5246887_5246889del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "",
          "end": 5203465,
          "referenceAllele": "CCT",
          "start": 5203462
        }
      ],
      "hgvs": [
        "NC_000011.8:g.5203463_5203465del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 71959,
          "referenceAllele": "AGG",
          "start": 71956
        }
      ],
      "hgvs": [
        "NG_000007.3:g.71957_71959del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000435"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6415,
          "referenceAllele": "AGG",
          "start": 6412
        }
      ],
      "hgvs": [
        "NG_059281.1:g.6413_6415del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617598"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 561,
          "referenceAllele": "AGG",
          "start": 558
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004827",
      "geneNCBI_id": 3043,
      "geneSymbol": "HBB",
      "hgvs": [
        "ENST00000647020.1:c.383_385del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494175.1:p.Gln128_Ala129delinsPro",
        "hgvsWellDefined": "ENSP00000494175.1:p.Gln128_Ala129delinsPro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769194"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 435,
          "referenceAllele": "AGG",
          "start": 432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004827",
      "geneNCBI_id": 3043,
      "geneSymbol": "HBB",
      "hgvs": [
        "ENST00000335295.4:c.383_385del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000333994.3:p.Gln128_Ala129delinsPro",
        "hgvsWellDefined": "ENSP00000333994.3:p.Gln128_Ala129delinsPro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260096",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000335295.4:c.383_385del"
          },
          "RefSeq": {
            "hgvs": "NM_000518.5:c.383_385del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000333994.3:p.Gln128_Ala129delinsPro"
          },
          "RefSeq": {
            "hgvs": "NP_000509.1:p.Gln128_Ala129delinsPro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 317,
          "referenceAllele": "AGG",
          "start": 314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004827",
      "geneNCBI_id": 3043,
      "geneSymbol": "HBB",
      "hgvs": [
        "ENST00000475226.1:n.315_317del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS316551"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 419,
          "referenceAllele": "AGG",
          "start": 416
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004827",
      "geneNCBI_id": 3043,
      "geneSymbol": "HBB",
      "hgvs": [
        "ENST00000633227.1:c.*199_*201del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000488004.1:n.*199_*201del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407656"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3057243199",
      "coordinates": [
        {
          "allele": "",
          "end": 435,
          "referenceAllele": "AGG",
          "start": 432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004827",
      "geneNCBI_id": 3043,
      "geneSymbol": "HBB",
      "hgvs": [
        "NM_000518.4:c.383_385del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000509.1:p.Gln128_Ala129delinsPro",
        "hgvsWellDefined": "NP_000509.1:p.Gln128_Ala129delinsPro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006575"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3057243199",
      "coordinates": [
        {
          "allele": "",
          "end": 435,
          "referenceAllele": "AGG",
          "start": 432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004827",
      "geneNCBI_id": 3043,
      "geneSymbol": "HBB",
      "hgvs": [
        "NM_000518.5:c.383_385del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000509.1:p.Gln128_Ala129delinsPro",
        "hgvsWellDefined": "NP_000509.1:p.Gln128_Ala129delinsPro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510808",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000335295.4:c.383_385del"
          },
          "RefSeq": {
            "hgvs": "NM_000518.5:c.383_385del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000333994.3:p.Gln128_Ala129delinsPro"
          },
          "RefSeq": {
            "hgvs": "NP_000509.1:p.Gln128_Ala129delinsPro"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}