{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA873360743",
  "communityStandardTitle": [
    "NM_000132.4(F8):c.*15_*17dup"
  ],
  "externalRecords": {
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.154837579_154837580insTGC?assembly=hg38",
        "id": "chrX:g.154837579_154837580insTGC"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1210974402",
        "rs": 1210974402
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-154837579-G-GTGC?dataset=gnomad_r3",
        "id": "X-154837579-G-GTGC",
        "variant": "X:154837579 G / GTGC"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-154837579-G-GTGC?dataset=gnomad_r4",
        "id": "X-154837579-G-GTGC",
        "variant": "X:154837579 G / GTGC"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "TGC",
          "end": 154837585,
          "referenceAllele": "",
          "start": 154837585
        }
      ],
      "hgvs": [
        "NC_000023.11:g.154837583_154837585dup",
        "CM000685.2:g.154837583_154837585dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "TGC",
          "end": 154065860,
          "referenceAllele": "",
          "start": 154065860
        }
      ],
      "hgvs": [
        "NC_000023.10:g.154065858_154065860dup",
        "CM000685.1:g.154065858_154065860dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "TGC",
          "end": 153719054,
          "referenceAllele": "",
          "start": 153719054
        }
      ],
      "hgvs": [
        "NC_000023.9:g.153719052_153719054dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "GCA",
          "end": 190144,
          "referenceAllele": "",
          "start": 190144
        }
      ],
      "hgvs": [
        "NG_011403.1:g.190142_190144dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001709"
    },
    {
      "coordinates": [
        {
          "allele": "GCA",
          "end": 2083,
          "referenceAllele": "",
          "start": 2083
        }
      ],
      "hgvs": [
        "NG_033065.1:g.2081_2083dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005397"
    },
    {
      "coordinates": [
        {
          "allele": "GCA",
          "end": 190144,
          "referenceAllele": "",
          "start": 190144
        }
      ],
      "hgvs": [
        "NG_011403.2:g.190142_190144dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS733325"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "GCA",
          "end": 7244,
          "referenceAllele": "",
          "start": 7244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003546",
      "geneNCBI_id": 2157,
      "geneSymbol": "F8",
      "hgvs": [
        "ENST00000360256.9:c.*15_*17dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353393.4:n.*15_*17dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749292",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000360256.9:c.*15_*17dup"
          },
          "RefSeq": {
            "hgvs": "NM_000132.4:c.*15_*17dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000353393.4:n.*15_*17dup"
          },
          "RefSeq": {
            "hgvs": "NP_000123.1:n.*15_*17dup"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "GCA",
          "end": 1931,
          "referenceAllele": "",
          "start": 1931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003546",
      "geneNCBI_id": 2157,
      "geneSymbol": "F8",
      "hgvs": [
        "ENST00000644698.1:c.*15_*17dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495706.1:n.*15_*17dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767949"
    },
    {
      "coordinates": [
        {
          "allele": "GCA",
          "end": 828,
          "referenceAllele": "",
          "start": 828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003546",
      "geneNCBI_id": 2157,
      "geneSymbol": "F8",
      "hgvs": [
        "ENST00000330287.10:c.*15_*17dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000327895.6:n.*15_*17dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259212"
    },
    {
      "coordinates": [
        {
          "allele": "GCA",
          "end": 7274,
          "referenceAllele": "",
          "start": 7274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003546",
      "geneNCBI_id": 2157,
      "geneSymbol": "F8",
      "hgvs": [
        "ENST00000360256.8:c.*15_*17dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353393.4:n.*15_*17dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265065"
    },
    {
      "coordinates": [
        {
          "allele": "GCA",
          "end": 7244,
          "referenceAllele": "",
          "start": 7244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003546",
      "geneNCBI_id": 2157,
      "geneSymbol": "F8",
      "hgvs": [
        "NM_000132.3:c.*15_*17dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000123.1:n.*15_*17dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006194"
    },
    {
      "coordinates": [
        {
          "allele": "GCA",
          "end": 813,
          "referenceAllele": "",
          "start": 813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003546",
      "geneNCBI_id": 2157,
      "geneSymbol": "F8",
      "hgvs": [
        "NM_019863.2:c.*15_*17dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_063916.1:n.*15_*17dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036160"
    },
    {
      "coordinates": [
        {
          "allele": "GCA",
          "end": 7085,
          "referenceAllele": "",
          "start": 7085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003546",
      "geneNCBI_id": 2157,
      "geneSymbol": "F8",
      "hgvs": [
        "XM_011531126.1:c.*15_*17dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529428.1:n.*15_*17dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098167"
    },
    {
      "coordinates": [
        {
          "allele": "GCA",
          "end": 7244,
          "referenceAllele": "",
          "start": 7244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003546",
      "geneNCBI_id": 2157,
      "geneSymbol": "F8",
      "hgvs": [
        "NM_000132.4:c.*15_*17dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000123.1:n.*15_*17dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710801",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000360256.9:c.*15_*17dup"
          },
          "RefSeq": {
            "hgvs": "NM_000132.4:c.*15_*17dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000353393.4:n.*15_*17dup"
          },
          "RefSeq": {
            "hgvs": "NP_000123.1:n.*15_*17dup"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "GCA",
          "end": 828,
          "referenceAllele": "",
          "start": 828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003546",
      "geneNCBI_id": 2157,
      "geneSymbol": "F8",
      "hgvs": [
        "NM_019863.3:c.*15_*17dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_063916.1:n.*15_*17dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728406"
    }
  ],
  "type": "nucleotide"
}