{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2580088089",
  "communityStandardTitle": [
    "NM_003982.4(SLC7A7):c.895-7C>G"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2080891[alleleid]",
        "alleleId": 2080891,
        "preferredName": "NM_003982.4(SLC7A7):c.895-7C>G"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2025543",
        "RCV": [
          "RCV002853232"
        ],
        "variationId": 2025543
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2501844832",
        "rs": 2501844832
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "C",
          "end": 22775943,
          "referenceAllele": "G",
          "start": 22775942
        }
      ],
      "hgvs": [
        "NC_000014.9:g.22775943G>C",
        "CM000676.2:g.22775943G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "C",
          "end": 23245152,
          "referenceAllele": "G",
          "start": 23245151
        }
      ],
      "hgvs": [
        "NC_000014.8:g.23245152G>C",
        "CM000676.1:g.23245152G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "C",
          "end": 22314992,
          "referenceAllele": "G",
          "start": 22314991
        }
      ],
      "hgvs": [
        "NC_000014.7:g.22314992G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 58878,
          "referenceAllele": "C",
          "start": 58877
        }
      ],
      "hgvs": [
        "NG_012851.2:g.58878C>G",
        "LRG_695:g.58878C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002584"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1449,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "C",
          "start": 1449,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011065",
      "geneNCBI_id": 9056,
      "geneSymbol": "SLC7A7",
      "hgvs": [
        "ENST00000555911.2:c.895-7C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452551.2:n.895-7C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905870"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1088,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "C",
          "start": 1088,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011065",
      "geneNCBI_id": 9056,
      "geneSymbol": "SLC7A7",
      "hgvs": [
        "ENST00000698939.1:c.771-7C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514047.1:n.771-7C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909884"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1420,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "C",
          "start": 1420,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011065",
      "geneNCBI_id": 9056,
      "geneSymbol": "SLC7A7",
      "hgvs": [
        "ENST00000397532.9:c.895-7C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380666.4:n.895-7C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753654"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1052,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "C",
          "start": 1052,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011065",
      "geneNCBI_id": 9056,
      "geneSymbol": "SLC7A7",
      "hgvs": [
        "ENST00000674313.1:c.895-7C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501493.1:n.895-7C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774303",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000674313.1:c.895-7C>G"
          },
          "RefSeq": {
            "hgvs": "NM_003982.4:c.895-7C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501493.1:n.895-7C>G"
          },
          "RefSeq": {
            "hgvs": "NP_003973.3:n.895-7C>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1233,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "C",
          "start": 1233,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011065",
      "geneNCBI_id": 9056,
      "geneSymbol": "SLC7A7",
      "hgvs": [
        "ENST00000285850.11:c.895-7C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000285850.7:n.895-7C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253321"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1136,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "C",
          "start": 1136,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011065",
      "geneNCBI_id": 9056,
      "geneSymbol": "SLC7A7",
      "hgvs": [
        "ENST00000397528.8:c.895-7C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380662.4:n.895-7C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277847"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1095,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "C",
          "start": 1095,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011065",
      "geneNCBI_id": 9056,
      "geneSymbol": "SLC7A7",
      "hgvs": [
        "ENST00000397529.6:c.895-7C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380663.2:n.895-7C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277848"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1420,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "C",
          "start": 1420,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011065",
      "geneNCBI_id": 9056,
      "geneSymbol": "SLC7A7",
      "hgvs": [
        "ENST00000397532.7:c.895-7C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380666.3:n.895-7C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277849"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 565,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "C",
          "start": 565,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011065",
      "geneNCBI_id": 9056,
      "geneSymbol": "SLC7A7",
      "hgvs": [
        "ENST00000554061.5:n.566-7C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS370339"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 479,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "C",
          "start": 479,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011065",
      "geneNCBI_id": 9056,
      "geneSymbol": "SLC7A7",
      "hgvs": [
        "ENST00000554517.5:c.97-7C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452083.1:n.97-7C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS370703"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1242,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "C",
          "start": 1242,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011065",
      "geneNCBI_id": 9056,
      "geneSymbol": "SLC7A7",
      "hgvs": [
        "ENST00000555702.5:c.895-7C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451881.1:n.895-7C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS371646"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2094,
          "endIntronDirection": "+",
          "endIntronOffset": 252,
          "referenceAllele": "C",
          "start": 2094,
          "startIntronDirection": "+",
          "startIntronOffset": 251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011065",
      "geneNCBI_id": 9056,
      "geneSymbol": "SLC7A7",
      "hgvs": [
        "ENST00000556287.5:c.894+252C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450715.1:n.894+252C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS372106"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 38,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "C",
          "start": 38,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011065",
      "geneNCBI_id": 9056,
      "geneSymbol": "SLC7A7",
      "hgvs": [
        "ENST00000556350.1:c.39-7C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS372158"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1136,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "C",
          "start": 1136,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011065",
      "geneNCBI_id": 9056,
      "geneSymbol": "SLC7A7",
      "hgvs": [
        "NM_001126105.2:c.895-7C>G",
        "LRG_695t1:c.895-7C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001119577.1:n.895-7C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011485"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1242,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "C",
          "start": 1242,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011065",
      "geneNCBI_id": 9056,
      "geneSymbol": "SLC7A7",
      "hgvs": [
        "NM_001126106.2:c.895-7C>G",
        "LRG_695t2:c.895-7C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001119578.1:n.895-7C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011486"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1509,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "C",
          "start": 1509,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011065",
      "geneNCBI_id": 9056,
      "geneSymbol": "SLC7A7",
      "hgvs": [
        "NR_040448.1:n.1510-7C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS051204"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1233,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "C",
          "start": 1233,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011065",
      "geneNCBI_id": 9056,
      "geneSymbol": "SLC7A7",
      "hgvs": [
        "XM_006720302.1:c.895-7C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720365.1:n.895-7C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073596"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1486,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "C",
          "start": 1486,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011065",
      "geneNCBI_id": 9056,
      "geneSymbol": "SLC7A7",
      "hgvs": [
        "XM_011537298.1:c.895-7C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535600.1:n.895-7C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104263"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1095,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "C",
          "start": 1095,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011065",
      "geneNCBI_id": 9056,
      "geneSymbol": "SLC7A7",
      "hgvs": [
        "XM_011537299.1:c.895-7C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535601.1:n.895-7C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104264"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1218,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "C",
          "start": 1218,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011065",
      "geneNCBI_id": 9056,
      "geneSymbol": "SLC7A7",
      "hgvs": [
        "XM_006720302.2:c.895-7C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720365.1:n.895-7C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540064"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1126,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "C",
          "start": 1126,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011065",
      "geneNCBI_id": 9056,
      "geneSymbol": "SLC7A7",
      "hgvs": [
        "XM_011537298.3:c.895-7C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535600.1:n.895-7C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552850"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1109,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "C",
          "start": 1109,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011065",
      "geneNCBI_id": 9056,
      "geneSymbol": "SLC7A7",
      "hgvs": [
        "NM_001126105.3:c.895-7C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001119577.1:n.895-7C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676819"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1222,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "C",
          "start": 1222,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011065",
      "geneNCBI_id": 9056,
      "geneSymbol": "SLC7A7",
      "hgvs": [
        "NM_001126106.4:c.895-7C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001119578.1:n.895-7C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676820"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1052,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "C",
          "start": 1052,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011065",
      "geneNCBI_id": 9056,
      "geneSymbol": "SLC7A7",
      "hgvs": [
        "NM_003982.4:c.895-7C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003973.3:n.895-7C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696003",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000674313.1:c.895-7C>G"
          },
          "RefSeq": {
            "hgvs": "NM_003982.4:c.895-7C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501493.1:n.895-7C>G"
          },
          "RefSeq": {
            "hgvs": "NP_003973.3:n.895-7C>G"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}