{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA125284",
  "communityStandardTitle": [
    "NM_000518.5(HBB):c.126_129del (p.Phe42LeufsTer19)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=30456[alleleid]",
        "alleleId": 30456,
        "preferredName": "NM_000518.5(HBB):c.126_129del (p.Phe42fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/15417",
        "RCV": [
          "RCV000016673",
          "RCV000020328",
          "RCV000508554",
          "RCV001004569",
          "RCV001262999",
          "RCV002426507",
          "RCV002465488",
          "RCV002496380",
          "RCV004532368"
        ],
        "variationId": 15417
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/11-5247992-CAAAG-C",
        "id": "11-5247992-CAAAG-C",
        "variant": "11:5247992 CAAAG / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.5247993_5247996del?assembly=hg19",
        "id": "chr11:g.5247993_5247996del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.5226763_5226766del?assembly=hg38",
        "id": "chr11:g.5226763_5226766del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/80356821",
        "rs": 80356821
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-5247992-CAAAG-C?dataset=gnomad_r2_1",
        "id": "11-5247992-CAAAG-C",
        "variant": "11:5247992 CAAAG / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-5226762-CAAAG-C?dataset=gnomad_r3",
        "id": "11-5226762-CAAAG-C",
        "variant": "11:5226762 CAAAG / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-5226762-CAAAG-C?dataset=gnomad_r4",
        "id": "11-5226762-CAAAG-C",
        "variant": "11:5226762 CAAAG / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "",
          "end": 5226768,
          "referenceAllele": "AGAA",
          "start": 5226764
        }
      ],
      "hgvs": [
        "NC_000011.10:g.5226765_5226768del",
        "CM000673.2:g.5226765_5226768del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "",
          "end": 5247998,
          "referenceAllele": "AGAA",
          "start": 5247994
        }
      ],
      "hgvs": [
        "NC_000011.9:g.5247995_5247998del",
        "CM000673.1:g.5247995_5247998del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "",
          "end": 5204574,
          "referenceAllele": "AGAA",
          "start": 5204570
        }
      ],
      "hgvs": [
        "NC_000011.8:g.5204571_5204574del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 70853,
          "referenceAllele": "TTCT",
          "start": 70849
        }
      ],
      "hgvs": [
        "NG_000007.3:g.70850_70853del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000435"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5309,
          "referenceAllele": "TTCT",
          "start": 5305
        }
      ],
      "hgvs": [
        "NG_059281.1:g.5306_5309del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617598"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 305,
          "referenceAllele": "TTCT",
          "start": 301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004827",
      "geneNCBI_id": 3043,
      "geneSymbol": "HBB",
      "hgvs": [
        "ENST00000647020.1:c.126_129del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494175.1:p.Phe42LeufsTer19",
        "hgvsWellDefined": "ENSP00000494175.1:p.[Phe42_Phe46delinsLeuSerProLeu;Asp48_Thr51delinsIleCys;Asp53_Val55delinsLeuLeu;Gly57_Lys62delinsLeuLeuTrp;His64_Val68delinsThr;Gly70_Ser73delinsArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769194"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 179,
          "referenceAllele": "TTCT",
          "start": 175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004827",
      "geneNCBI_id": 3043,
      "geneSymbol": "HBB",
      "hgvs": [
        "ENST00000335295.4:c.126_129del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000333994.3:p.Phe42LeufsTer19",
        "hgvsWellDefined": "ENSP00000333994.3:p.[Phe42_Phe46delinsLeuSerProLeu;Asp48_Thr51delinsIleCys;Asp53_Val55delinsLeuLeu;Gly57_Lys62delinsLeuLeuTrp;His64_Val68delinsThr;Gly70_Ser73delinsArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260096",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000335295.4:c.126_129del"
          },
          "RefSeq": {
            "hgvs": "NM_000518.5:c.126_129del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000333994.3:p.Phe42LeufsTer19"
          },
          "RefSeq": {
            "hgvs": "NP_000509.1:p.Phe42LeufsTer19"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 359,
          "referenceAllele": "TTCT",
          "start": 355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004827",
      "geneNCBI_id": 3043,
      "geneSymbol": "HBB",
      "hgvs": [
        "ENST00000380315.2:c.126_129del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369671.2:p.Phe42LeufsTer19",
        "hgvsWellDefined": "ENSP00000369671.2:p.[Phe42_Phe46delinsLeuSerProLeu;Asp48_Thr51delinsIleCys;Asp53_Val55delinsLeuLeu;Gly57_Lys62delinsLeuLeuTrp;His64_Val68delinsThr;Gly70_Ser73delinsArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272868"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 61,
          "referenceAllele": "TTCT",
          "start": 57
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004827",
      "geneNCBI_id": 3043,
      "geneSymbol": "HBB",
      "hgvs": [
        "ENST00000475226.1:n.58_61del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS316551"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 180,
          "referenceAllele": "TTCT",
          "start": 176
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004827",
      "geneNCBI_id": 3043,
      "geneSymbol": "HBB",
      "hgvs": [
        "ENST00000485743.1:n.177_180del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS324703"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 163,
          "referenceAllele": "TTCT",
          "start": 159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004827",
      "geneNCBI_id": 3043,
      "geneSymbol": "HBB",
      "hgvs": [
        "ENST00000633227.1:c.110_113del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000488004.1:p.Ser37Ter",
        "hgvsWellDefined": "ENSP00000488004.1:p.Ser37Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407656"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 179,
          "referenceAllele": "TTCT",
          "start": 175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004827",
      "geneNCBI_id": 3043,
      "geneSymbol": "HBB",
      "hgvs": [
        "NM_000518.4:c.126_129del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000509.1:p.Phe42LeufsTer19",
        "hgvsWellDefined": "NP_000509.1:p.[Phe42_Phe46delinsLeuSerProLeu;Asp48_Thr51delinsIleCys;Asp53_Val55delinsLeuLeu;Gly57_Lys62delinsLeuLeuTrp;His64_Val68delinsThr;Gly70_Ser73delinsArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006575"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 179,
          "referenceAllele": "TTCT",
          "start": 175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004827",
      "geneNCBI_id": 3043,
      "geneSymbol": "HBB",
      "hgvs": [
        "NM_000518.5:c.126_129del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000509.1:p.Phe42LeufsTer19",
        "hgvsWellDefined": "NP_000509.1:p.[Phe42_Phe46delinsLeuSerProLeu;Asp48_Thr51delinsIleCys;Asp53_Val55delinsLeuLeu;Gly57_Lys62delinsLeuLeuTrp;His64_Val68delinsThr;Gly70_Ser73delinsArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510808",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000335295.4:c.126_129del"
          },
          "RefSeq": {
            "hgvs": "NM_000518.5:c.126_129del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000333994.3:p.Phe42LeufsTer19"
          },
          "RefSeq": {
            "hgvs": "NP_000509.1:p.Phe42LeufsTer19"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}