{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA248608",
  "communityStandardTitle": [
    "NM_002049.4(GATA1):c.154_173dup (p.Ala59GlnfsTer?)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=25468[alleleid]",
        "alleleId": 25468,
        "preferredName": "NM_002049.4(GATA1):c.154_173dup (p.Ala59fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/10429",
        "RCV": [
          "RCV000011174",
          "RCV001851786"
        ],
        "variationId": 10429
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.48649670_48649689dup20?assembly=hg19",
        "id": "chrX:g.48649670_48649689dup20"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.48791263_48791282dup20?assembly=hg38",
        "id": "chrX:g.48791263_48791282dup20"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/398124628",
        "rs": 398124628
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "ACAGCCACCGCTGCAGCTGC",
          "end": 48791282,
          "referenceAllele": "",
          "start": 48791282
        }
      ],
      "hgvs": [
        "NC_000023.11:g.48791263_48791282dup",
        "CM000685.2:g.48791263_48791282dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "ACAGCCACCGCTGCAGCTGC",
          "end": 48649689,
          "referenceAllele": "",
          "start": 48649689
        }
      ],
      "hgvs": [
        "NC_000023.10:g.48649670_48649689dup",
        "CM000685.1:g.48649670_48649689dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "ACAGCCACCGCTGCAGCTGC",
          "end": 48534633,
          "referenceAllele": "",
          "start": 48534633
        }
      ],
      "hgvs": [
        "NC_000023.9:g.48534614_48534633dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "ACAGCCACCGCTGCAGCTGC",
          "end": 9709,
          "referenceAllele": "",
          "start": 9709
        }
      ],
      "hgvs": [
        "NG_008846.2:g.9690_9709dup",
        "LRG_559:g.9690_9709dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001242"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "ACAGCCACCGCTGCAGCTGC",
          "end": 84,
          "endIntronDirection": "-",
          "endIntronOffset": 561,
          "referenceAllele": "",
          "start": 84,
          "startIntronDirection": "-",
          "startIntronOffset": 561
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004170",
      "geneNCBI_id": 2623,
      "geneSymbol": "GATA1",
      "hgvs": [
        "ENST00000651144.2:c.-29-581_-29-562dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498550.1:n.-29-581_-29-562dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906490"
    },
    {
      "coordinates": [
        {
          "allele": "ACAGCCACCGCTGCAGCTGC",
          "end": 298,
          "referenceAllele": "",
          "start": 298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004170",
      "geneNCBI_id": 2623,
      "geneSymbol": "GATA1",
      "hgvs": [
        "ENST00000696450.1:c.154_173dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512637.1:p.Ala59GlnfsTer?",
        "hgvsWellDefined": "ENSP00000512637.1:p.[Ala59_Tyr63delinsGlnProProLeuGlnLeu;Asp65_Ser72delinsHisTrpProThrThrGlyThrLeuArg;Val74_Phe75delinsThrAspThrPro;Val77_Asn82delinsSerPheArgCysThrHis;Met84_Glu85delinsSerThrValTrpArg;Ile87Ser]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907904"
    },
    {
      "coordinates": [
        {
          "allele": "ACAGCCACCGCTGCAGCTGC",
          "end": 84,
          "endIntronDirection": "-",
          "endIntronOffset": 561,
          "referenceAllele": "",
          "start": 84,
          "startIntronDirection": "-",
          "startIntronOffset": 561
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004170",
      "geneNCBI_id": 2623,
      "geneSymbol": "GATA1",
      "hgvs": [
        "ENST00000696451.1:c.-29-581_-29-562dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512638.1:n.-29-581_-29-562dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907905"
    },
    {
      "coordinates": [
        {
          "allele": "ACAGCCACCGCTGCAGCTGC",
          "end": 84,
          "endIntronDirection": "-",
          "endIntronOffset": 561,
          "referenceAllele": "",
          "start": 84,
          "startIntronDirection": "-",
          "startIntronOffset": 561
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004170",
      "geneNCBI_id": 2623,
      "geneSymbol": "GATA1",
      "hgvs": [
        "ENST00000696452.1:c.-29-581_-29-562dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512639.1:n.-29-581_-29-562dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907906"
    },
    {
      "coordinates": [
        {
          "allele": "ACAGCCACCGCTGCAGCTGC",
          "end": 248,
          "referenceAllele": "",
          "start": 248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004170",
      "geneNCBI_id": 2623,
      "geneSymbol": "GATA1",
      "hgvs": [
        "ENST00000376670.9:c.154_173dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365858.3:p.Ala59GlnfsTer?",
        "hgvsWellDefined": "ENSP00000365858.3:p.[Ala59_Tyr63delinsGlnProProLeuGlnLeu;Asp65_Ser72delinsHisTrpProThrThrGlyThrLeuArg;Val74_Phe75delinsThrAspThrPro;Val77_Asn82delinsSerPheArgCysThrHis;Met84_Glu85delinsSerThrValTrpArg;Ile87Ser]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751798",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000376670.9:c.154_173dup"
          },
          "RefSeq": {
            "hgvs": "NM_002049.4:c.154_173dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365858.3:p.Ala59GlnfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_002040.1:p.Ala59GlnfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "ACAGCCACCGCTGCAGCTGC",
          "end": 84,
          "endIntronDirection": "-",
          "endIntronOffset": 561,
          "referenceAllele": "",
          "start": 84,
          "startIntronDirection": "-",
          "startIntronOffset": 561
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004170",
      "geneNCBI_id": 2623,
      "geneSymbol": "GATA1",
      "hgvs": [
        "ENST00000651144.1:c.-29-581_-29-562dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498550.1:n.-29-581_-29-562dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771490"
    },
    {
      "coordinates": [
        {
          "allele": "ACAGCCACCGCTGCAGCTGC",
          "end": 265,
          "referenceAllele": "",
          "start": 265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004170",
      "geneNCBI_id": 2623,
      "geneSymbol": "GATA1",
      "hgvs": [
        "ENST00000376665.4:c.154_173dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365853.3:p.Ala59GlnfsTer?",
        "hgvsWellDefined": "ENSP00000365853.3:p.[Ala59_Tyr63delinsGlnProProLeuGlnLeu;Asp65_Ser72delinsHisTrpProThrThrGlyThrLeuArg;Val74_Phe75delinsThrAspThrPro;Val77_Asn82delinsSerPheArgCysThrHis;Met84_Glu85delinsSerThrValTrpArg;Ile87Ser]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271263"
    },
    {
      "coordinates": [
        {
          "allele": "ACAGCCACCGCTGCAGCTGC",
          "end": 284,
          "referenceAllele": "",
          "start": 284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004170",
      "geneNCBI_id": 2623,
      "geneSymbol": "GATA1",
      "hgvs": [
        "ENST00000376670.7:c.154_173dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365858.3:p.Ala59GlnfsTer?",
        "hgvsWellDefined": "ENSP00000365858.3:p.[Ala59_Tyr63delinsGlnProProLeuGlnLeu;Asp65_Ser72delinsHisTrpProThrThrGlyThrLeuArg;Val74_Phe75delinsThrAspThrPro;Val77_Asn82delinsSerPheArgCysThrHis;Met84_Glu85delinsSerThrValTrpArg;Ile87Ser]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271267"
    },
    {
      "coordinates": [
        {
          "allele": "ACAGCCACCGCTGCAGCTGC",
          "end": 264,
          "referenceAllele": "",
          "start": 264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004170",
      "geneNCBI_id": 2623,
      "geneSymbol": "GATA1",
      "hgvs": [
        "NM_002049.3:c.154_173dup",
        "LRG_559t1:c.154_173dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_002040.1:p.Ala59GlnfsTer?",
        "hgvsWellDefined": "NP_002040.1:p.[Ala59_Tyr63delinsGlnProProLeuGlnLeu;Asp65_Ser72delinsHisTrpProThrThrGlyThrLeuArg;Val74_Phe75delinsThrAspThrPro;Val77_Asn82delinsSerPheArgCysThrHis;Met84_Glu85delinsSerThrValTrpArg;Ile87Ser]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027375"
    },
    {
      "coordinates": [
        {
          "allele": "ACAGCCACCGCTGCAGCTGC",
          "end": 278,
          "referenceAllele": "",
          "start": 278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004170",
      "geneNCBI_id": 2623,
      "geneSymbol": "GATA1",
      "hgvs": [
        "XM_011543897.1:c.154_173dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542199.1:p.Ala59GlnfsTer?",
        "hgvsWellDefined": "XP_011542199.1:p.[Ala59_Tyr63delinsGlnProProLeuGlnLeu;Asp65_Ser72delinsHisTrpProThrThrGlyThrLeuArg;Val74_Phe75delinsThrAspThrPro;Val77_Asn82delinsSerPheArgCysThrHis;Met84_Glu85delinsSerThrValTrpArg;Ile87Ser]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110810"
    },
    {
      "coordinates": [
        {
          "allele": "ACAGCCACCGCTGCAGCTGC",
          "end": 86,
          "endIntronDirection": "-",
          "endIntronOffset": 561,
          "referenceAllele": "",
          "start": 86,
          "startIntronDirection": "-",
          "startIntronOffset": 561
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004170",
      "geneNCBI_id": 2623,
      "geneSymbol": "GATA1",
      "hgvs": [
        "XM_011543898.1:c.-29-581_-29-562dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542200.1:n.-29-581_-29-562dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110811"
    },
    {
      "coordinates": [
        {
          "allele": "ACAGCCACCGCTGCAGCTGC",
          "end": 298,
          "referenceAllele": "",
          "start": 298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004170",
      "geneNCBI_id": 2623,
      "geneSymbol": "GATA1",
      "hgvs": [
        "XM_011543897.2:c.154_173dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542199.1:p.Ala59GlnfsTer?",
        "hgvsWellDefined": "XP_011542199.1:p.[Ala59_Tyr63delinsGlnProProLeuGlnLeu;Asp65_Ser72delinsHisTrpProThrThrGlyThrLeuArg;Val74_Phe75delinsThrAspThrPro;Val77_Asn82delinsSerPheArgCysThrHis;Met84_Glu85delinsSerThrValTrpArg;Ile87Ser]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555415"
    },
    {
      "coordinates": [
        {
          "allele": "ACAGCCACCGCTGCAGCTGC",
          "end": 105,
          "endIntronDirection": "-",
          "endIntronOffset": 561,
          "referenceAllele": "",
          "start": 105,
          "startIntronDirection": "-",
          "startIntronOffset": 561
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004170",
      "geneNCBI_id": 2623,
      "geneSymbol": "GATA1",
      "hgvs": [
        "XM_011543898.2:c.-29-581_-29-562dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542200.1:n.-29-581_-29-562dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555416"
    },
    {
      "coordinates": [
        {
          "allele": "ACAGCCACCGCTGCAGCTGC",
          "end": 104,
          "endIntronDirection": "-",
          "endIntronOffset": 561,
          "referenceAllele": "",
          "start": 104,
          "startIntronDirection": "-",
          "startIntronOffset": 561
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004170",
      "geneNCBI_id": 2623,
      "geneSymbol": "GATA1",
      "hgvs": [
        "XM_024452363.1:c.-29-581_-29-562dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308131.1:n.-29-581_-29-562dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585858"
    },
    {
      "coordinates": [
        {
          "allele": "ACAGCCACCGCTGCAGCTGC",
          "end": 248,
          "referenceAllele": "",
          "start": 248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004170",
      "geneNCBI_id": 2623,
      "geneSymbol": "GATA1",
      "hgvs": [
        "NM_002049.4:c.154_173dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_002040.1:p.Ala59GlnfsTer?",
        "hgvsWellDefined": "NP_002040.1:p.[Ala59_Tyr63delinsGlnProProLeuGlnLeu;Asp65_Ser72delinsHisTrpProThrThrGlyThrLeuArg;Val74_Phe75delinsThrAspThrPro;Val77_Asn82delinsSerPheArgCysThrHis;Met84_Glu85delinsSerThrValTrpArg;Ile87Ser]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695441",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000376670.9:c.154_173dup"
          },
          "RefSeq": {
            "hgvs": "NM_002049.4:c.154_173dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365858.3:p.Ala59GlnfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_002040.1:p.Ala59GlnfsTer?"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}