{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA125518",
  "communityStandardTitle": [
    "NM_000518.5(HBB):c.434del (p.Lys145SerfsTer14)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=30643[alleleid]",
        "alleleId": 30643,
        "preferredName": "NM_000518.5(HBB):c.434del (p.Lys145fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/15604",
        "RCV": [
          "RCV000016871"
        ],
        "variationId": 15604
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.5246838del?assembly=hg19",
        "id": "chr11:g.5246838del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.5225608del?assembly=hg38",
        "id": "chr11:g.5225608del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/63751425",
        "rs": 63751425
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "",
          "end": 5225609,
          "referenceAllele": "T",
          "start": 5225608
        }
      ],
      "hgvs": [
        "NC_000011.10:g.5225609del",
        "CM000673.2:g.5225609del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "",
          "end": 5246839,
          "referenceAllele": "T",
          "start": 5246838
        }
      ],
      "hgvs": [
        "NC_000011.9:g.5246839del",
        "CM000673.1:g.5246839del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "",
          "end": 5203415,
          "referenceAllele": "T",
          "start": 5203414
        }
      ],
      "hgvs": [
        "NC_000011.8:g.5203415del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 72008,
          "referenceAllele": "A",
          "start": 72007
        }
      ],
      "hgvs": [
        "NG_000007.3:g.72008del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000435"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6464,
          "referenceAllele": "A",
          "start": 6463
        }
      ],
      "hgvs": [
        "NG_059281.1:g.6464del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617598"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 610,
          "referenceAllele": "A",
          "start": 609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004827",
      "geneNCBI_id": 3043,
      "geneSymbol": "HBB",
      "hgvs": [
        "ENST00000647020.1:c.434del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494175.1:p.Lys145SerfsTer14",
        "hgvsWellDefined": "ENSP00000494175.1:p.[His144_Lys145insSerIleThr;Tyr146_His147delinsLeuAlaPheLeuLeuSerAsnPheTyr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769194"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 484,
          "referenceAllele": "A",
          "start": 483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004827",
      "geneNCBI_id": 3043,
      "geneSymbol": "HBB",
      "hgvs": [
        "ENST00000335295.4:c.434del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000333994.3:p.Lys145SerfsTer14",
        "hgvsWellDefined": "ENSP00000333994.3:p.[His144_Lys145insSerIleThr;Tyr146_His147delinsLeuAlaPheLeuLeuSerAsnPheTyr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260096",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000335295.4:c.434del"
          },
          "RefSeq": {
            "hgvs": "NM_000518.5:c.434del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000333994.3:p.Lys145SerfsTer14"
          },
          "RefSeq": {
            "hgvs": "NP_000509.1:p.Lys145SerfsTer14"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 468,
          "referenceAllele": "A",
          "start": 467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004827",
      "geneNCBI_id": 3043,
      "geneSymbol": "HBB",
      "hgvs": [
        "ENST00000633227.1:c.*250del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000488004.1:n.*250del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407656"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 484,
          "referenceAllele": "A",
          "start": 483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004827",
      "geneNCBI_id": 3043,
      "geneSymbol": "HBB",
      "hgvs": [
        "NM_000518.4:c.434del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000509.1:p.Lys145SerfsTer14",
        "hgvsWellDefined": "NP_000509.1:p.[His144_Lys145insSerIleThr;Tyr146_His147delinsLeuAlaPheLeuLeuSerAsnPheTyr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006575"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 484,
          "referenceAllele": "A",
          "start": 483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004827",
      "geneNCBI_id": 3043,
      "geneSymbol": "HBB",
      "hgvs": [
        "NM_000518.5:c.434del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000509.1:p.Lys145SerfsTer14",
        "hgvsWellDefined": "NP_000509.1:p.[His144_Lys145insSerIleThr;Tyr146_His147delinsLeuAlaPheLeuLeuSerAsnPheTyr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510808",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000335295.4:c.434del"
          },
          "RefSeq": {
            "hgvs": "NM_000518.5:c.434del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000333994.3:p.Lys145SerfsTer14"
          },
          "RefSeq": {
            "hgvs": "NP_000509.1:p.Lys145SerfsTer14"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}