{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA645373293",
  "communityStandardTitle": [
    "NM_139058.3(ARX):c.1141del (p.Ala381ProfsTer?)"
  ],
  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=430771[alleleid]",
        "alleleId": 430771,
        "preferredName": "NM_139058.3(ARX):c.1141del (p.Ala381fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/434396",
        "RCV": [
          "RCV000499705"
        ],
        "variationId": 434396
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.25025535del?assembly=hg19",
        "id": "chrX:g.25025535del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.25007418del?assembly=hg38",
        "id": "chrX:g.25007418del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1556049694",
        "rs": 1556049694
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "",
          "end": 25007420,
          "referenceAllele": "C",
          "start": 25007419
        }
      ],
      "hgvs": [
        "NC_000023.11:g.25007420del",
        "CM000685.2:g.25007420del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "",
          "end": 25025537,
          "referenceAllele": "C",
          "start": 25025536
        }
      ],
      "hgvs": [
        "NC_000023.10:g.25025537del",
        "CM000685.1:g.25025537del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "",
          "end": 24935458,
          "referenceAllele": "C",
          "start": 24935457
        }
      ],
      "hgvs": [
        "NC_000023.9:g.24935458del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 13531,
          "referenceAllele": "G",
          "start": 13530
        }
      ],
      "hgvs": [
        "NG_008281.1:g.13531del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000995"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1369,
          "referenceAllele": "G",
          "start": 1368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018060",
      "geneNCBI_id": 170302,
      "geneSymbol": "ARX",
      "hgvs": [
        "ENST00000379044.5:c.1141del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368332.4:p.Ala381ProfsTer?",
        "hgvsWellDefined": "ENSP00000368332.4:p.[Ala381_Lys385delinsProSerGlyAlaSerGly;Glu387_Lys388delinsArgGln;Gly390_Gln392delinsArgArgPro;His394del;Pro396Leu;Leu398Cys;Phe400_Pro401delinsSerArg;Pro403_Leu410delinsArgSerProProProThrArgSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752163",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000379044.5:c.1141del"
          },
          "RefSeq": {
            "hgvs": "NM_139058.3:c.1141del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000368332.4:p.Ala381ProfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_620689.1:p.Ala381ProfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1352,
          "referenceAllele": "G",
          "start": 1351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018060",
      "geneNCBI_id": 170302,
      "geneSymbol": "ARX",
      "hgvs": [
        "ENST00000379044.4:c.1141del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368332.4:p.Ala381ProfsTer?",
        "hgvsWellDefined": "ENSP00000368332.4:p.[Ala381_Lys385delinsProSerGlyAlaSerGly;Glu387_Lys388delinsArgGln;Gly390_Gln392delinsArgArgPro;His394del;Pro396Leu;Leu398Cys;Phe400_Pro401delinsSerArg;Pro403_Leu410delinsArgSerProProProThrArgSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272310"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1352,
          "referenceAllele": "G",
          "start": 1351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018060",
      "geneNCBI_id": 170302,
      "geneSymbol": "ARX",
      "hgvs": [
        "NM_139058.2:c.1141del"
      ],
      "proteinEffect": {
        "hgvs": "NP_620689.1:p.Ala381ProfsTer?",
        "hgvsWellDefined": "NP_620689.1:p.[Ala381_Lys385delinsProSerGlyAlaSerGly;Glu387_Lys388delinsArgGln;Gly390_Gln392delinsArgArgPro;His394del;Pro396Leu;Leu398Cys;Phe400_Pro401delinsSerArg;Pro403_Leu410delinsArgSerProProProThrArgSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040971"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1369,
          "referenceAllele": "G",
          "start": 1368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018060",
      "geneNCBI_id": 170302,
      "geneSymbol": "ARX",
      "hgvs": [
        "NM_139058.3:c.1141del"
      ],
      "proteinEffect": {
        "hgvs": "NP_620689.1:p.Ala381ProfsTer?",
        "hgvsWellDefined": "NP_620689.1:p.[Ala381_Lys385delinsProSerGlyAlaSerGly;Glu387_Lys388delinsArgGln;Gly390_Gln392delinsArgArgPro;His394del;Pro396Leu;Leu398Cys;Phe400_Pro401delinsSerArg;Pro403_Leu410delinsArgSerProProProThrArgSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS671983",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000379044.5:c.1141del"
          },
          "RefSeq": {
            "hgvs": "NM_139058.3:c.1141del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000368332.4:p.Ala381ProfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_620689.1:p.Ala381ProfsTer?"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}