{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA414896606",
  "communityStandardTitle": [
    "NM_000132.4(F8):c.7042C>T (p.Gln2348Ter)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.154065886G>A?assembly=hg19",
        "id": "chrX:g.154065886G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.154837611G>A?assembly=hg38",
        "id": "chrX:g.154837611G>A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 154837611,
          "referenceAllele": "G",
          "start": 154837610
        }
      ],
      "hgvs": [
        "NC_000023.11:g.154837611G>A",
        "CM000685.2:g.154837611G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 154065886,
          "referenceAllele": "G",
          "start": 154065885
        }
      ],
      "hgvs": [
        "NC_000023.10:g.154065886G>A",
        "CM000685.1:g.154065886G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 153719080,
          "referenceAllele": "G",
          "start": 153719079
        }
      ],
      "hgvs": [
        "NC_000023.9:g.153719080G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 190113,
          "referenceAllele": "C",
          "start": 190112
        }
      ],
      "hgvs": [
        "NG_011403.1:g.190113C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001709"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2052,
          "referenceAllele": "C",
          "start": 2051
        }
      ],
      "hgvs": [
        "NG_033065.1:g.2052C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005397"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 190113,
          "referenceAllele": "C",
          "start": 190112
        }
      ],
      "hgvs": [
        "NG_011403.2:g.190113C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS733325"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7213,
          "referenceAllele": "C",
          "start": 7212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003546",
      "geneNCBI_id": 2157,
      "geneSymbol": "F8",
      "hgvs": [
        "ENST00000360256.9:c.7042C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353393.4:p.Gln2348Ter",
        "hgvsWellDefined": "ENSP00000353393.4:p.Gln2348_Tyr2351delinsAspLeuTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749292",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000360256.9:c.7042C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000132.4:c.7042C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000353393.4:p.Gln2348Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000123.1:p.Gln2348Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1900,
          "referenceAllele": "C",
          "start": 1899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003546",
      "geneNCBI_id": 2157,
      "geneSymbol": "F8",
      "hgvs": [
        "ENST00000644698.1:c.775C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495706.1:p.Gln259Ter",
        "hgvsWellDefined": "ENSP00000495706.1:p.Gln259_Tyr262delinsAspLeuTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767949"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 797,
          "referenceAllele": "C",
          "start": 796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003546",
      "geneNCBI_id": 2157,
      "geneSymbol": "F8",
      "hgvs": [
        "ENST00000330287.10:c.637C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000327895.6:p.Gln213Ter",
        "hgvsWellDefined": "ENSP00000327895.6:p.Gln213_Tyr216delinsAspLeuTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259212"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7243,
          "referenceAllele": "C",
          "start": 7242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003546",
      "geneNCBI_id": 2157,
      "geneSymbol": "F8",
      "hgvs": [
        "ENST00000360256.8:c.7042C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353393.4:p.Gln2348Ter",
        "hgvsWellDefined": "ENSP00000353393.4:p.Gln2348_Tyr2351delinsAspLeuTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265065"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7213,
          "referenceAllele": "C",
          "start": 7212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003546",
      "geneNCBI_id": 2157,
      "geneSymbol": "F8",
      "hgvs": [
        "NM_000132.3:c.7042C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000123.1:p.Gln2348Ter",
        "hgvsWellDefined": "NP_000123.1:p.Gln2348_Tyr2351delinsAspLeuTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006194"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 782,
          "referenceAllele": "C",
          "start": 781
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003546",
      "geneNCBI_id": 2157,
      "geneSymbol": "F8",
      "hgvs": [
        "NM_019863.2:c.637C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_063916.1:p.Gln213Ter",
        "hgvsWellDefined": "NP_063916.1:p.Gln213_Tyr216delinsAspLeuTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036160"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7054,
          "referenceAllele": "C",
          "start": 7053
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003546",
      "geneNCBI_id": 2157,
      "geneSymbol": "F8",
      "hgvs": [
        "XM_011531126.1:c.6937C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529428.1:p.Gln2313Ter",
        "hgvsWellDefined": "XP_011529428.1:p.Gln2313_Tyr2316delinsAspLeuTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098167"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7213,
          "referenceAllele": "C",
          "start": 7212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003546",
      "geneNCBI_id": 2157,
      "geneSymbol": "F8",
      "hgvs": [
        "NM_000132.4:c.7042C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000123.1:p.Gln2348Ter",
        "hgvsWellDefined": "NP_000123.1:p.Gln2348_Tyr2351delinsAspLeuTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710801",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000360256.9:c.7042C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000132.4:c.7042C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000353393.4:p.Gln2348Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000123.1:p.Gln2348Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 797,
          "referenceAllele": "C",
          "start": 796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003546",
      "geneNCBI_id": 2157,
      "geneSymbol": "F8",
      "hgvs": [
        "NM_019863.3:c.637C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_063916.1:p.Gln213Ter",
        "hgvsWellDefined": "NP_063916.1:p.Gln213_Tyr216delinsAspLeuTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728406"
    }
  ],
  "type": "nucleotide"
}