{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA344729",
  "communityStandardTitle": [
    "NM_000390.4(CHM):c.1609+2dup"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=70863[alleleid]",
        "alleleId": 70863,
        "preferredName": "NM_000390.4(CHM):c.1609+2dup"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/56224",
        "RCV": [
          "RCV000049636",
          "RCV002281558"
        ],
        "variationId": 56224
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/X-85133967-T-TA",
        "id": "X-85133967-T-TA",
        "variant": "X:85133967 T / TA"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.85133968dupA?assembly=hg19",
        "id": "chrX:g.85133968dupA"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.85133967_85133968insA?assembly=hg19",
        "id": "chrX:g.85133967_85133968insA"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.85878963dupA?assembly=hg38",
        "id": "chrX:g.85878963dupA"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.85878962_85878963insA?assembly=hg38",
        "id": "chrX:g.85878962_85878963insA"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/386833676",
        "rs": 386833676
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-85133967-T-TA?dataset=gnomad_r2_1",
        "id": "X-85133967-T-TA",
        "variant": "X:85133967 T / TA"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-85878962-T-TA?dataset=gnomad_r4",
        "id": "X-85878962-T-TA",
        "variant": "X:85878962 T / TA"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 85878963,
          "referenceAllele": "",
          "start": 85878963
        }
      ],
      "hgvs": [
        "NC_000023.11:g.85878963dup",
        "CM000685.2:g.85878963dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 85133968,
          "referenceAllele": "",
          "start": 85133968
        }
      ],
      "hgvs": [
        "NC_000023.10:g.85133968dup",
        "CM000685.1:g.85133968dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 85020624,
          "referenceAllele": "",
          "start": 85020624
        }
      ],
      "hgvs": [
        "NC_000023.9:g.85020624dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 173600,
          "referenceAllele": "",
          "start": 173600
        }
      ],
      "hgvs": [
        "NG_009874.2:g.173600dup",
        "LRG_699:g.173600dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001680"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1635,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "",
          "start": 1635,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001940",
      "geneNCBI_id": 1121,
      "geneSymbol": "CHM",
      "hgvs": [
        "ENST00000357749.7:c.1609+2dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350386.2:n.1609+2dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748988",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357749.7:c.1609+2dup"
          },
          "RefSeq": {
            "hgvs": "NM_000390.4:c.1609+2dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000350386.2:n.1609+2dup"
          },
          "RefSeq": {
            "hgvs": "NP_000381.1:n.1609+2dup"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1639,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "",
          "start": 1639,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001940",
      "geneNCBI_id": 1121,
      "geneSymbol": "CHM",
      "hgvs": [
        "ENST00000357749.6:c.1609+2dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350386.2:n.1609+2dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264219"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 126,
          "endIntronDirection": "-",
          "endIntronOffset": 15868,
          "referenceAllele": "",
          "start": 126,
          "startIntronDirection": "-",
          "startIntronOffset": 15868
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001940",
      "geneNCBI_id": 1121,
      "geneSymbol": "CHM",
      "hgvs": [
        "ENST00000467744.2:n.127-15869dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS310821"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1639,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "",
          "start": 1639,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001940",
      "geneNCBI_id": 1121,
      "geneSymbol": "CHM",
      "hgvs": [
        "NM_000390.2:c.1609+2dup",
        "LRG_699t1:c.1609+2dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000381.1:n.1609+2dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006451"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1563,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "",
          "start": 1563,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001940",
      "geneNCBI_id": 1121,
      "geneSymbol": "CHM",
      "hgvs": [
        "XM_006724615.2:c.1546+2dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724678.1:n.1546+2dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075621"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1639,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "",
          "start": 1639,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001940",
      "geneNCBI_id": 1121,
      "geneSymbol": "CHM",
      "hgvs": [
        "XM_011530839.1:c.1165+2dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529141.1:n.1165+2dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097882"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1642,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "",
          "start": 1642,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001940",
      "geneNCBI_id": 1121,
      "geneSymbol": "CHM",
      "hgvs": [
        "NM_000390.3:c.1609+2dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000381.1:n.1609+2dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510786"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1639,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "",
          "start": 1639,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001940",
      "geneNCBI_id": 1121,
      "geneSymbol": "CHM",
      "hgvs": [
        "NM_001320959.1:c.1165+2dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001307888.1:n.1165+2dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513927"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1778,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "",
          "start": 1778,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001940",
      "geneNCBI_id": 1121,
      "geneSymbol": "CHM",
      "hgvs": [
        "NM_001362517.1:c.1165+2dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001349446.1:n.1165+2dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1638,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "",
          "start": 1638,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001940",
      "geneNCBI_id": 1121,
      "geneSymbol": "CHM",
      "hgvs": [
        "NM_001362518.1:c.1165+2dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001349447.1:n.1165+2dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523018"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1774,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "",
          "start": 1774,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001940",
      "geneNCBI_id": 1121,
      "geneSymbol": "CHM",
      "hgvs": [
        "NM_001362519.1:c.1165+2dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001349448.1:n.1165+2dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523019"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1635,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "",
          "start": 1635,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001940",
      "geneNCBI_id": 1121,
      "geneSymbol": "CHM",
      "hgvs": [
        "XM_017029242.2:c.1609+2dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884731.1:n.1609+2dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578821"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1608,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "",
          "start": 1608,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001940",
      "geneNCBI_id": 1121,
      "geneSymbol": "CHM",
      "hgvs": [
        "XM_017029246.1:c.1165+2dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884735.1:n.1165+2dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578822"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1639,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "",
          "start": 1639,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001940",
      "geneNCBI_id": 1121,
      "geneSymbol": "CHM",
      "hgvs": [
        "XM_024452331.1:c.1165+2dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308099.1:n.1165+2dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585827"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1635,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "",
          "start": 1635,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001940",
      "geneNCBI_id": 1121,
      "geneSymbol": "CHM",
      "hgvs": [
        "NM_000390.4:c.1609+2dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000381.1:n.1609+2dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662422",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357749.7:c.1609+2dup"
          },
          "RefSeq": {
            "hgvs": "NM_000390.4:c.1609+2dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000350386.2:n.1609+2dup"
          },
          "RefSeq": {
            "hgvs": "NP_000381.1:n.1609+2dup"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1616,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "",
          "start": 1616,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001940",
      "geneNCBI_id": 1121,
      "geneSymbol": "CHM",
      "hgvs": [
        "NM_001362518.2:c.1165+2dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001349447.1:n.1165+2dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690508"
    }
  ],
  "type": "nucleotide"
}