{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA412866762",
  "communityStandardTitle": [
    "NM_002049.4(GATA1):c.49C>T (p.Gln17Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM13211"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=929754[alleleid]",
        "alleleId": 929754,
        "preferredName": "NM_002049.4(GATA1):c.49C>T (p.Gln17Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/945515",
        "RCV": [
          "RCV001216172"
        ],
        "variationId": 945515
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.48649565C>T?assembly=hg19",
        "id": "chrX:g.48649565C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.48791158C>T?assembly=hg38",
        "id": "chrX:g.48791158C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2062673523",
        "rs": 2062673523
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 48791158,
          "referenceAllele": "C",
          "start": 48791157
        }
      ],
      "hgvs": [
        "NC_000023.11:g.48791158C>T",
        "CM000685.2:g.48791158C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 48649565,
          "referenceAllele": "C",
          "start": 48649564
        }
      ],
      "hgvs": [
        "NC_000023.10:g.48649565C>T",
        "CM000685.1:g.48649565C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 48534509,
          "referenceAllele": "C",
          "start": 48534508
        }
      ],
      "hgvs": [
        "NC_000023.9:g.48534509C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9585,
          "referenceAllele": "C",
          "start": 9584
        }
      ],
      "hgvs": [
        "NG_008846.2:g.9585C>T",
        "LRG_559:g.9585C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001242"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 84,
          "endIntronDirection": "-",
          "endIntronOffset": 685,
          "referenceAllele": "C",
          "start": 84,
          "startIntronDirection": "-",
          "startIntronOffset": 686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004170",
      "geneNCBI_id": 2623,
      "geneSymbol": "GATA1",
      "hgvs": [
        "ENST00000651144.2:c.-29-686C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498550.1:n.-29-686C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906490"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 174,
          "referenceAllele": "C",
          "start": 173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004170",
      "geneNCBI_id": 2623,
      "geneSymbol": "GATA1",
      "hgvs": [
        "ENST00000696450.1:c.49C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512637.1:p.Gln17Ter",
        "hgvsWellDefined": "ENSP00000512637.1:p.Gln17_Ser418delinsPheValAspProAlaLeuValSerSerThrProGluSerGlyValPhePheProSerGlyProGluGlyLeuAspAlaAlaAlaSerSerThrAlaProSerThrAlaThrAlaAlaAlaAlaAlaLeuAlaTyrTyrArgAspAlaGluAlaTyrArgHisSerProValPheGlnValTyrProLeuLeuAsnCysMetGluGlyIleProGlyGlySerProTyrAlaGlyTrpAlaTyrGlyLysThrGlyLeuTyrProAlaSerThrValCysProThrArgGluAspSerProProGlnAlaValGluAspLeuAspGlyLysGlySerThrSerPheLeuGluThrLeuLysThrGluArgLeuSerProAspLeuLeuThrLeuGlyProAlaLeuProSerSerLeuProValProAsnSerAlaTyrGlyGlyProAspPheSerSerThrPhePheSerProThrGlySerProLeuAsnSerAlaAlaTyrSerSerProLysLeuArgGlyThrLeuProLeuProProCysGluAlaArgGluCysValAsnCysGlyAlaThrAlaThrProLeuTrpArgArgAspArgThrGlyHisTyrLeuCysAsnAlaCysGlyLeuTyrHisLysMetAsnGlyGlnAsnArgProLeuIleArgProLysLysArgLeuIleValSerLysArgAlaGlyThrGlnCysThrAsnCysGlnThrThrThrThrThrLeuTrpArgArgAsnAlaSerGlyAspProValCysAsnAlaCysGlyLeuTyrTyrLysLeuHisGlnProProPheTrpGlnValAsnArgProLeuThrMetArgLysAspGlyIleGlnThrArgAsnArgLysAlaSerGlyLysGlyLysLysLysArgGlySerSerLeuGlyGlyThrGlyAlaAlaGluGlyProAlaGlyGlyPheMetValValAlaGlyGlySerGlySerGlyAsnCysGlyGluValAlaSerGlyLeuThrLeuGlyProProGlyThrAlaHisLeuTyrGlnGlyLeuGlyProValValLeuSerGlyProValSerHisLeuMetProPheProGlyProLeuLeuGlySerProThrGlySerPheProThrGlyProMetProProThrThrSerThrThrValValAlaProLeuSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907904"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 84,
          "endIntronDirection": "-",
          "endIntronOffset": 685,
          "referenceAllele": "C",
          "start": 84,
          "startIntronDirection": "-",
          "startIntronOffset": 686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004170",
      "geneNCBI_id": 2623,
      "geneSymbol": "GATA1",
      "hgvs": [
        "ENST00000696451.1:c.-29-686C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512638.1:n.-29-686C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907905"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 84,
          "endIntronDirection": "-",
          "endIntronOffset": 685,
          "referenceAllele": "C",
          "start": 84,
          "startIntronDirection": "-",
          "startIntronOffset": 686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004170",
      "geneNCBI_id": 2623,
      "geneSymbol": "GATA1",
      "hgvs": [
        "ENST00000696452.1:c.-29-686C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512639.1:n.-29-686C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907906"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 124,
          "referenceAllele": "C",
          "start": 123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004170",
      "geneNCBI_id": 2623,
      "geneSymbol": "GATA1",
      "hgvs": [
        "ENST00000376670.9:c.49C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365858.3:p.Gln17Ter",
        "hgvsWellDefined": "ENSP00000365858.3:p.Gln17_Ser413delinsPheValAspProAlaLeuValSerSerThrProGluSerGlyValPhePheProSerGlyProGluGlyLeuAspAlaAlaAlaSerSerThrAlaProSerThrAlaThrAlaAlaAlaAlaAlaLeuAlaTyrTyrArgAspAlaGluAlaTyrArgHisSerProValPheGlnValTyrProLeuLeuAsnCysMetGluGlyIleProGlyGlySerProTyrAlaGlyTrpAlaTyrGlyLysThrGlyLeuTyrProAlaSerThrValCysProThrArgGluAspSerProProGlnAlaValGluAspLeuAspGlyLysGlySerThrSerPheLeuGluThrLeuLysThrGluArgLeuSerProAspLeuLeuThrLeuGlyProAlaLeuProSerSerLeuProValProAsnSerAlaTyrGlyGlyProAspPheSerSerThrPhePheSerProThrGlySerProLeuAsnSerAlaAlaTyrSerSerProLysLeuArgGlyThrLeuProLeuProProCysGluAlaArgGluCysValAsnCysGlyAlaThrAlaThrProLeuTrpArgArgAspArgThrGlyHisTyrLeuCysAsnAlaCysGlyLeuTyrHisLysMetAsnGlyGlnAsnArgProLeuIleArgProLysLysArgLeuIleValSerLysArgAlaGlyThrGlnCysThrAsnCysGlnThrThrThrThrThrLeuTrpArgArgAsnAlaSerGlyAspProValCysAsnAlaCysGlyLeuTyrTyrLysLeuHisGlnValAsnArgProLeuThrMetArgLysAspGlyIleGlnThrArgAsnArgLysAlaSerGlyLysGlyLysLysLysArgGlySerSerLeuGlyGlyThrGlyAlaAlaGluGlyProAlaGlyGlyPheMetValValAlaGlyGlySerGlySerGlyAsnCysGlyGluValAlaSerGlyLeuThrLeuGlyProProGlyThrAlaHisLeuTyrGlnGlyLeuGlyProValValLeuSerGlyProValSerHisLeuMetProPheProGlyProLeuLeuGlySerProThrGlySerPheProThrGlyProMetProProThrThrSerThrThrValValAlaProLeuSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751798",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000376670.9:c.49C>T"
          },
          "RefSeq": {
            "hgvs": "NM_002049.4:c.49C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365858.3:p.Gln17Ter"
          },
          "RefSeq": {
            "hgvs": "NP_002040.1:p.Gln17Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 84,
          "endIntronDirection": "-",
          "endIntronOffset": 685,
          "referenceAllele": "C",
          "start": 84,
          "startIntronDirection": "-",
          "startIntronOffset": 686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004170",
      "geneNCBI_id": 2623,
      "geneSymbol": "GATA1",
      "hgvs": [
        "ENST00000651144.1:c.-29-686C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498550.1:n.-29-686C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771490"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 141,
          "referenceAllele": "C",
          "start": 140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004170",
      "geneNCBI_id": 2623,
      "geneSymbol": "GATA1",
      "hgvs": [
        "ENST00000376665.4:c.49C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365853.3:p.Gln17Ter",
        "hgvsWellDefined": "ENSP00000365853.3:p.Gln17_Ala334delinsPheValAspProAlaLeuValSerSerThrProGluSerGlyValPhePheProSerGlyProGluGlyLeuAspAlaAlaAlaSerSerThrAlaProSerThrAlaThrAlaAlaAlaAlaAlaLeuAlaTyrTyrArgAspAlaGluAlaTyrArgHisSerProValPheGlnValTyrProLeuLeuAsnCysMetGluGlyIleProGlyGlySerProTyrAlaGlyTrpAlaTyrGlyLysThrGlyLeuTyrProAlaSerThrValCysProThrArgGluAspSerProProGlnAlaValGluAspLeuAspGlyLysGlySerThrSerPheLeuGluThrLeuLysThrGluArgLeuSerProAspLeuLeuThrLeuGlyProAlaLeuProSerSerLeuProValProAsnSerAlaTyrGlyGlyProAspPheSerSerThrPhePheSerProThrGlySerProLeuAsnSerAlaAlaTyrSerSerProLysLeuArgGlyThrLeuProLeuProProCysGluAlaArgGluCysValAsnCysGlyAlaThrAlaThrProLeuTrpArgArgAspArgThrGlyHisTyrLeuCysAsnAlaCysGlyLeuTyrHisLysMetAsnGlyGlnAsnArgProLeuIleArgProLysLysArgLeuIleValSerLysArgAlaGlyThrGlnCysThrAsnCysGlnThrThrThrThrThrLeuTrpArgArgAsnAlaSerGlyAspProValCysAsnAlaCysGlyLeuTyrTyrLysLeuHisGlnHisTyrCysGlyGlySerAlaGlnLeuMetArgAlaGlnSerMetAlaSerArgGlyGlyValValSerPheSerSerCysSerGlnAsnSerGlyGlnProLysSerLeuGlyProArgHisProLeuAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271263"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 160,
          "referenceAllele": "C",
          "start": 159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004170",
      "geneNCBI_id": 2623,
      "geneSymbol": "GATA1",
      "hgvs": [
        "ENST00000376670.7:c.49C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365858.3:p.Gln17Ter",
        "hgvsWellDefined": "ENSP00000365858.3:p.Gln17_Ser413delinsPheValAspProAlaLeuValSerSerThrProGluSerGlyValPhePheProSerGlyProGluGlyLeuAspAlaAlaAlaSerSerThrAlaProSerThrAlaThrAlaAlaAlaAlaAlaLeuAlaTyrTyrArgAspAlaGluAlaTyrArgHisSerProValPheGlnValTyrProLeuLeuAsnCysMetGluGlyIleProGlyGlySerProTyrAlaGlyTrpAlaTyrGlyLysThrGlyLeuTyrProAlaSerThrValCysProThrArgGluAspSerProProGlnAlaValGluAspLeuAspGlyLysGlySerThrSerPheLeuGluThrLeuLysThrGluArgLeuSerProAspLeuLeuThrLeuGlyProAlaLeuProSerSerLeuProValProAsnSerAlaTyrGlyGlyProAspPheSerSerThrPhePheSerProThrGlySerProLeuAsnSerAlaAlaTyrSerSerProLysLeuArgGlyThrLeuProLeuProProCysGluAlaArgGluCysValAsnCysGlyAlaThrAlaThrProLeuTrpArgArgAspArgThrGlyHisTyrLeuCysAsnAlaCysGlyLeuTyrHisLysMetAsnGlyGlnAsnArgProLeuIleArgProLysLysArgLeuIleValSerLysArgAlaGlyThrGlnCysThrAsnCysGlnThrThrThrThrThrLeuTrpArgArgAsnAlaSerGlyAspProValCysAsnAlaCysGlyLeuTyrTyrLysLeuHisGlnValAsnArgProLeuThrMetArgLysAspGlyIleGlnThrArgAsnArgLysAlaSerGlyLysGlyLysLysLysArgGlySerSerLeuGlyGlyThrGlyAlaAlaGluGlyProAlaGlyGlyPheMetValValAlaGlyGlySerGlySerGlyAsnCysGlyGluValAlaSerGlyLeuThrLeuGlyProProGlyThrAlaHisLeuTyrGlnGlyLeuGlyProValValLeuSerGlyProValSerHisLeuMetProPheProGlyProLeuLeuGlySerProThrGlySerPheProThrGlyProMetProProThrThrSerThrThrValValAlaProLeuSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271267"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139703855",
      "coordinates": [
        {
          "allele": "T",
          "end": 140,
          "referenceAllele": "C",
          "start": 139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004170",
      "geneNCBI_id": 2623,
      "geneSymbol": "GATA1",
      "hgvs": [
        "NM_002049.3:c.49C>T",
        "LRG_559t1:c.49C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002040.1:p.Gln17Ter",
        "hgvsWellDefined": "NP_002040.1:p.Gln17_Ser413delinsPheValAspProAlaLeuValSerSerThrProGluSerGlyValPhePheProSerGlyProGluGlyLeuAspAlaAlaAlaSerSerThrAlaProSerThrAlaThrAlaAlaAlaAlaAlaLeuAlaTyrTyrArgAspAlaGluAlaTyrArgHisSerProValPheGlnValTyrProLeuLeuAsnCysMetGluGlyIleProGlyGlySerProTyrAlaGlyTrpAlaTyrGlyLysThrGlyLeuTyrProAlaSerThrValCysProThrArgGluAspSerProProGlnAlaValGluAspLeuAspGlyLysGlySerThrSerPheLeuGluThrLeuLysThrGluArgLeuSerProAspLeuLeuThrLeuGlyProAlaLeuProSerSerLeuProValProAsnSerAlaTyrGlyGlyProAspPheSerSerThrPhePheSerProThrGlySerProLeuAsnSerAlaAlaTyrSerSerProLysLeuArgGlyThrLeuProLeuProProCysGluAlaArgGluCysValAsnCysGlyAlaThrAlaThrProLeuTrpArgArgAspArgThrGlyHisTyrLeuCysAsnAlaCysGlyLeuTyrHisLysMetAsnGlyGlnAsnArgProLeuIleArgProLysLysArgLeuIleValSerLysArgAlaGlyThrGlnCysThrAsnCysGlnThrThrThrThrThrLeuTrpArgArgAsnAlaSerGlyAspProValCysAsnAlaCysGlyLeuTyrTyrLysLeuHisGlnValAsnArgProLeuThrMetArgLysAspGlyIleGlnThrArgAsnArgLysAlaSerGlyLysGlyLysLysLysArgGlySerSerLeuGlyGlyThrGlyAlaAlaGluGlyProAlaGlyGlyPheMetValValAlaGlyGlySerGlySerGlyAsnCysGlyGluValAlaSerGlyLeuThrLeuGlyProProGlyThrAlaHisLeuTyrGlnGlyLeuGlyProValValLeuSerGlyProValSerHisLeuMetProPheProGlyProLeuLeuGlySerProThrGlySerPheProThrGlyProMetProProThrThrSerThrThrValValAlaProLeuSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027375"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 154,
          "referenceAllele": "C",
          "start": 153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004170",
      "geneNCBI_id": 2623,
      "geneSymbol": "GATA1",
      "hgvs": [
        "XM_011543897.1:c.49C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542199.1:p.Gln17Ter",
        "hgvsWellDefined": "XP_011542199.1:p.Gln17_Ser418delinsPheValAspProAlaLeuValSerSerThrProGluSerGlyValPhePheProSerGlyProGluGlyLeuAspAlaAlaAlaSerSerThrAlaProSerThrAlaThrAlaAlaAlaAlaAlaLeuAlaTyrTyrArgAspAlaGluAlaTyrArgHisSerProValPheGlnValTyrProLeuLeuAsnCysMetGluGlyIleProGlyGlySerProTyrAlaGlyTrpAlaTyrGlyLysThrGlyLeuTyrProAlaSerThrValCysProThrArgGluAspSerProProGlnAlaValGluAspLeuAspGlyLysGlySerThrSerPheLeuGluThrLeuLysThrGluArgLeuSerProAspLeuLeuThrLeuGlyProAlaLeuProSerSerLeuProValProAsnSerAlaTyrGlyGlyProAspPheSerSerThrPhePheSerProThrGlySerProLeuAsnSerAlaAlaTyrSerSerProLysLeuArgGlyThrLeuProLeuProProCysGluAlaArgGluCysValAsnCysGlyAlaThrAlaThrProLeuTrpArgArgAspArgThrGlyHisTyrLeuCysAsnAlaCysGlyLeuTyrHisLysMetAsnGlyGlnAsnArgProLeuIleArgProLysLysArgLeuIleValSerLysArgAlaGlyThrGlnCysThrAsnCysGlnThrThrThrThrThrLeuTrpArgArgAsnAlaSerGlyAspProValCysAsnAlaCysGlyLeuTyrTyrLysLeuHisGlnProProPheTrpGlnValAsnArgProLeuThrMetArgLysAspGlyIleGlnThrArgAsnArgLysAlaSerGlyLysGlyLysLysLysArgGlySerSerLeuGlyGlyThrGlyAlaAlaGluGlyProAlaGlyGlyPheMetValValAlaGlyGlySerGlySerGlyAsnCysGlyGluValAlaSerGlyLeuThrLeuGlyProProGlyThrAlaHisLeuTyrGlnGlyLeuGlyProValValLeuSerGlyProValSerHisLeuMetProPheProGlyProLeuLeuGlySerProThrGlySerPheProThrGlyProMetProProThrThrSerThrThrValValAlaProLeuSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110810"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 86,
          "endIntronDirection": "-",
          "endIntronOffset": 685,
          "referenceAllele": "C",
          "start": 86,
          "startIntronDirection": "-",
          "startIntronOffset": 686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004170",
      "geneNCBI_id": 2623,
      "geneSymbol": "GATA1",
      "hgvs": [
        "XM_011543898.1:c.-29-686C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542200.1:n.-29-686C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110811"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 174,
          "referenceAllele": "C",
          "start": 173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004170",
      "geneNCBI_id": 2623,
      "geneSymbol": "GATA1",
      "hgvs": [
        "XM_011543897.2:c.49C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542199.1:p.Gln17Ter",
        "hgvsWellDefined": "XP_011542199.1:p.Gln17_Ser418delinsPheValAspProAlaLeuValSerSerThrProGluSerGlyValPhePheProSerGlyProGluGlyLeuAspAlaAlaAlaSerSerThrAlaProSerThrAlaThrAlaAlaAlaAlaAlaLeuAlaTyrTyrArgAspAlaGluAlaTyrArgHisSerProValPheGlnValTyrProLeuLeuAsnCysMetGluGlyIleProGlyGlySerProTyrAlaGlyTrpAlaTyrGlyLysThrGlyLeuTyrProAlaSerThrValCysProThrArgGluAspSerProProGlnAlaValGluAspLeuAspGlyLysGlySerThrSerPheLeuGluThrLeuLysThrGluArgLeuSerProAspLeuLeuThrLeuGlyProAlaLeuProSerSerLeuProValProAsnSerAlaTyrGlyGlyProAspPheSerSerThrPhePheSerProThrGlySerProLeuAsnSerAlaAlaTyrSerSerProLysLeuArgGlyThrLeuProLeuProProCysGluAlaArgGluCysValAsnCysGlyAlaThrAlaThrProLeuTrpArgArgAspArgThrGlyHisTyrLeuCysAsnAlaCysGlyLeuTyrHisLysMetAsnGlyGlnAsnArgProLeuIleArgProLysLysArgLeuIleValSerLysArgAlaGlyThrGlnCysThrAsnCysGlnThrThrThrThrThrLeuTrpArgArgAsnAlaSerGlyAspProValCysAsnAlaCysGlyLeuTyrTyrLysLeuHisGlnProProPheTrpGlnValAsnArgProLeuThrMetArgLysAspGlyIleGlnThrArgAsnArgLysAlaSerGlyLysGlyLysLysLysArgGlySerSerLeuGlyGlyThrGlyAlaAlaGluGlyProAlaGlyGlyPheMetValValAlaGlyGlySerGlySerGlyAsnCysGlyGluValAlaSerGlyLeuThrLeuGlyProProGlyThrAlaHisLeuTyrGlnGlyLeuGlyProValValLeuSerGlyProValSerHisLeuMetProPheProGlyProLeuLeuGlySerProThrGlySerPheProThrGlyProMetProProThrThrSerThrThrValValAlaProLeuSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555415"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 105,
          "endIntronDirection": "-",
          "endIntronOffset": 685,
          "referenceAllele": "C",
          "start": 105,
          "startIntronDirection": "-",
          "startIntronOffset": 686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004170",
      "geneNCBI_id": 2623,
      "geneSymbol": "GATA1",
      "hgvs": [
        "XM_011543898.2:c.-29-686C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542200.1:n.-29-686C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555416"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 104,
          "endIntronDirection": "-",
          "endIntronOffset": 685,
          "referenceAllele": "C",
          "start": 104,
          "startIntronDirection": "-",
          "startIntronOffset": 686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004170",
      "geneNCBI_id": 2623,
      "geneSymbol": "GATA1",
      "hgvs": [
        "XM_024452363.1:c.-29-686C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308131.1:n.-29-686C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585858"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139703855",
      "coordinates": [
        {
          "allele": "T",
          "end": 124,
          "referenceAllele": "C",
          "start": 123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004170",
      "geneNCBI_id": 2623,
      "geneSymbol": "GATA1",
      "hgvs": [
        "NM_002049.4:c.49C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002040.1:p.Gln17Ter",
        "hgvsWellDefined": "NP_002040.1:p.Gln17_Ser413delinsPheValAspProAlaLeuValSerSerThrProGluSerGlyValPhePheProSerGlyProGluGlyLeuAspAlaAlaAlaSerSerThrAlaProSerThrAlaThrAlaAlaAlaAlaAlaLeuAlaTyrTyrArgAspAlaGluAlaTyrArgHisSerProValPheGlnValTyrProLeuLeuAsnCysMetGluGlyIleProGlyGlySerProTyrAlaGlyTrpAlaTyrGlyLysThrGlyLeuTyrProAlaSerThrValCysProThrArgGluAspSerProProGlnAlaValGluAspLeuAspGlyLysGlySerThrSerPheLeuGluThrLeuLysThrGluArgLeuSerProAspLeuLeuThrLeuGlyProAlaLeuProSerSerLeuProValProAsnSerAlaTyrGlyGlyProAspPheSerSerThrPhePheSerProThrGlySerProLeuAsnSerAlaAlaTyrSerSerProLysLeuArgGlyThrLeuProLeuProProCysGluAlaArgGluCysValAsnCysGlyAlaThrAlaThrProLeuTrpArgArgAspArgThrGlyHisTyrLeuCysAsnAlaCysGlyLeuTyrHisLysMetAsnGlyGlnAsnArgProLeuIleArgProLysLysArgLeuIleValSerLysArgAlaGlyThrGlnCysThrAsnCysGlnThrThrThrThrThrLeuTrpArgArgAsnAlaSerGlyAspProValCysAsnAlaCysGlyLeuTyrTyrLysLeuHisGlnValAsnArgProLeuThrMetArgLysAspGlyIleGlnThrArgAsnArgLysAlaSerGlyLysGlyLysLysLysArgGlySerSerLeuGlyGlyThrGlyAlaAlaGluGlyProAlaGlyGlyPheMetValValAlaGlyGlySerGlySerGlyAsnCysGlyGluValAlaSerGlyLeuThrLeuGlyProProGlyThrAlaHisLeuTyrGlnGlyLeuGlyProValValLeuSerGlyProValSerHisLeuMetProPheProGlyProLeuLeuGlySerProThrGlySerPheProThrGlyProMetProProThrThrSerThrThrValValAlaProLeuSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695441",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000376670.9:c.49C>T"
          },
          "RefSeq": {
            "hgvs": "NM_002049.4:c.49C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365858.3:p.Gln17Ter"
          },
          "RefSeq": {
            "hgvs": "NP_002040.1:p.Gln17Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}