{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA5839693",
  "communityStandardTitle": [
    "NM_000518.5(HBB):c.380_396del (p.Val127GlufsTer8)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1481230[alleleid]",
        "alleleId": 1481230,
        "preferredName": "NM_000518.5(HBB):c.380_396del (p.Val127fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1459872",
        "RCV": [
          "RCV001982926"
        ],
        "variationId": 1459872
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/11-5246875-TCTGATAGGCAGCCTGCA-T",
        "id": "11-5246875-TCTGATAGGCAGCCTGCA-T",
        "variant": "11:5246875 TCTGATAGGCAGCCTGCA / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.5246876_5246892del?assembly=hg19",
        "id": "chr11:g.5246876_5246892del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.5225646_5225662del?assembly=hg38",
        "id": "chr11:g.5225646_5225662del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/750606223",
        "rs": 750606223
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-5246875-TCTGATAGGCAGCCTGCA-T?dataset=gnomad_r2_1",
        "id": "11-5246875-TCTGATAGGCAGCCTGCA-T",
        "variant": "11:5246875 TCTGATAGGCAGCCTGCA / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-5225645-TCTGATAGGCAGCCTGCA-T?dataset=gnomad_r4",
        "id": "11-5225645-TCTGATAGGCAGCCTGCA-T",
        "variant": "11:5225645 TCTGATAGGCAGCCTGCA / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "",
          "end": 5225665,
          "referenceAllele": "ATAGGCAGCCTGCACTG",
          "start": 5225648
        }
      ],
      "hgvs": [
        "NC_000011.10:g.5225649_5225665del",
        "CM000673.2:g.5225649_5225665del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "",
          "end": 5246895,
          "referenceAllele": "ATAGGCAGCCTGCACTG",
          "start": 5246878
        }
      ],
      "hgvs": [
        "NC_000011.9:g.5246879_5246895del",
        "CM000673.1:g.5246879_5246895del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "",
          "end": 5203471,
          "referenceAllele": "ATAGGCAGCCTGCACTG",
          "start": 5203454
        }
      ],
      "hgvs": [
        "NC_000011.8:g.5203455_5203471del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 71970,
          "referenceAllele": "AGGCTGCCTATCAGTGC",
          "start": 71953
        }
      ],
      "hgvs": [
        "NG_000007.3:g.71954_71970del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000435"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6426,
          "referenceAllele": "AGGCTGCCTATCAGTGC",
          "start": 6409
        }
      ],
      "hgvs": [
        "NG_059281.1:g.6410_6426del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617598"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 572,
          "referenceAllele": "AGGCTGCCTATCAGTGC",
          "start": 555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004827",
      "geneNCBI_id": 3043,
      "geneSymbol": "HBB",
      "hgvs": [
        "ENST00000647020.1:c.380_396del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494175.1:p.Val127GlufsTer8",
        "hgvsWellDefined": "ENSP00000494175.1:p.[Val127_Ala136delinsGluSerGlyGlyTrpCys;Val138Ter]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769194"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 446,
          "referenceAllele": "AGGCTGCCTATCAGTGC",
          "start": 429
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004827",
      "geneNCBI_id": 3043,
      "geneSymbol": "HBB",
      "hgvs": [
        "ENST00000335295.4:c.380_396del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000333994.3:p.Val127GlufsTer8",
        "hgvsWellDefined": "ENSP00000333994.3:p.[Val127_Ala136delinsGluSerGlyGlyTrpCys;Val138Ter]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260096",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000335295.4:c.380_396del"
          },
          "RefSeq": {
            "hgvs": "NM_000518.5:c.380_396del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000333994.3:p.Val127GlufsTer8"
          },
          "RefSeq": {
            "hgvs": "NP_000509.1:p.Val127GlufsTer8"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 430,
          "referenceAllele": "AGGCTGCCTATCAGTGC",
          "start": 413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004827",
      "geneNCBI_id": 3043,
      "geneSymbol": "HBB",
      "hgvs": [
        "ENST00000633227.1:c.*196_*212del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000488004.1:n.*196_*212del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407656"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 446,
          "referenceAllele": "AGGCTGCCTATCAGTGC",
          "start": 429
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004827",
      "geneNCBI_id": 3043,
      "geneSymbol": "HBB",
      "hgvs": [
        "NM_000518.4:c.380_396del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000509.1:p.Val127GlufsTer8",
        "hgvsWellDefined": "NP_000509.1:p.[Val127_Ala136delinsGluSerGlyGlyTrpCys;Val138Ter]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006575"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 446,
          "referenceAllele": "AGGCTGCCTATCAGTGC",
          "start": 429
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004827",
      "geneNCBI_id": 3043,
      "geneSymbol": "HBB",
      "hgvs": [
        "NM_000518.5:c.380_396del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000509.1:p.Val127GlufsTer8",
        "hgvsWellDefined": "NP_000509.1:p.[Val127_Ala136delinsGluSerGlyGlyTrpCys;Val138Ter]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510808",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000335295.4:c.380_396del"
          },
          "RefSeq": {
            "hgvs": "NM_000518.5:c.380_396del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000333994.3:p.Val127GlufsTer8"
          },
          "RefSeq": {
            "hgvs": "NP_000509.1:p.Val127GlufsTer8"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}