{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1666700172",
  "communityStandardTitle": [
    "NM_001270508.2(TNFAIP3):c.-16+1263C="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/5029928",
        "rs": 5029928
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 137868805,
          "referenceAllele": "C",
          "start": 137868804
        }
      ],
      "hgvs": [
        "NC_000006.12:g.137868805C=",
        "CM000668.2:g.137868805C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 138189942,
          "referenceAllele": "C",
          "start": 138189941
        }
      ],
      "hgvs": [
        "NC_000006.11:g.138189942C=",
        "CM000668.1:g.138189942C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 138231635,
          "referenceAllele": "C",
          "start": 138231634
        }
      ],
      "hgvs": [
        "NC_000006.10:g.138231635C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6362,
          "referenceAllele": "C",
          "start": 6361
        }
      ],
      "hgvs": [
        "NG_032761.1:g.6362C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005208"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 197,
          "endIntronDirection": "+",
          "endIntronOffset": 1287,
          "referenceAllele": "C",
          "start": 197,
          "startIntronDirection": "+",
          "startIntronOffset": 1286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011896",
      "geneNCBI_id": 7128,
      "geneSymbol": "TNFAIP3",
      "hgvs": [
        "ENST00000420009.6:c.-16+1287C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000401562.2:n.-16+1287C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914035"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 286,
          "endIntronDirection": "+",
          "endIntronOffset": 1263,
          "referenceAllele": "C",
          "start": 286,
          "startIntronDirection": "+",
          "startIntronOffset": 1262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011896",
      "geneNCBI_id": 7128,
      "geneSymbol": "TNFAIP3",
      "hgvs": [
        "ENST00000711061.1:c.-16+1263C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518561.1:n.-16+1263C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914581"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 329,
          "endIntronDirection": "+",
          "endIntronOffset": 1263,
          "referenceAllele": "C",
          "start": 329,
          "startIntronDirection": "+",
          "startIntronOffset": 1262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011896",
      "geneNCBI_id": 7128,
      "geneSymbol": "TNFAIP3",
      "hgvs": [
        "ENST00000421450.2:c.-16+1263C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000393577.2:n.-16+1263C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904763"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 150,
          "endIntronDirection": "+",
          "endIntronOffset": 1069,
          "referenceAllele": "C",
          "start": 150,
          "startIntronDirection": "+",
          "startIntronOffset": 1068
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011896",
      "geneNCBI_id": 7128,
      "geneSymbol": "TNFAIP3",
      "hgvs": [
        "ENST00000433680.2:c.-16+1069C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000409845.2:n.-16+1069C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904854"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 174,
          "endIntronDirection": "+",
          "endIntronOffset": 1311,
          "referenceAllele": "C",
          "start": 174,
          "startIntronDirection": "+",
          "startIntronOffset": 1310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011896",
      "geneNCBI_id": 7128,
      "geneSymbol": "TNFAIP3",
      "hgvs": [
        "ENST00000698329.1:n.174+1311C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909317"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 284,
          "endIntronDirection": "+",
          "endIntronOffset": 1263,
          "referenceAllele": "C",
          "start": 284,
          "startIntronDirection": "+",
          "startIntronOffset": 1262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011896",
      "geneNCBI_id": 7128,
      "geneSymbol": "TNFAIP3",
      "hgvs": [
        "ENST00000612899.5:c.-16+1263C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481570.1:n.-16+1263C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761897",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000612899.5:c.-16+1263C="
          },
          "RefSeq": {
            "hgvs": "NM_001270508.2:c.-16+1263C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000481570.1:n.-16+1263C="
          },
          "RefSeq": {
            "hgvs": "NP_001257437.1:n.-16+1263C="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 51,
          "endIntronDirection": "+",
          "endIntronOffset": 1311,
          "referenceAllele": "C",
          "start": 51,
          "startIntronDirection": "+",
          "startIntronOffset": 1310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011896",
      "geneNCBI_id": 7128,
      "geneSymbol": "TNFAIP3",
      "hgvs": [
        "ENST00000237289.8:c.-16+1311C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000237289.4:n.-16+1311C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248998"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 197,
          "endIntronDirection": "+",
          "endIntronOffset": 1287,
          "referenceAllele": "C",
          "start": 197,
          "startIntronDirection": "+",
          "startIntronOffset": 1286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011896",
      "geneNCBI_id": 7128,
      "geneSymbol": "TNFAIP3",
      "hgvs": [
        "ENST00000420009.5:c.-16+1287C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000401562.1:n.-16+1287C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS286131"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 329,
          "endIntronDirection": "+",
          "endIntronOffset": 1263,
          "referenceAllele": "C",
          "start": 329,
          "startIntronDirection": "+",
          "startIntronOffset": 1262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011896",
      "geneNCBI_id": 7128,
      "geneSymbol": "TNFAIP3",
      "hgvs": [
        "ENST00000421450.1:c.-16+1263C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000393577.1:n.-16+1263C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS286807"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 155,
          "endIntronDirection": "+",
          "endIntronOffset": 1069,
          "referenceAllele": "C",
          "start": 155,
          "startIntronDirection": "+",
          "startIntronOffset": 1068
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011896",
      "geneNCBI_id": 7128,
      "geneSymbol": "TNFAIP3",
      "hgvs": [
        "ENST00000433680.1:c.-16+1069C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000409845.1:n.-16+1069C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS292653"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 355,
          "endIntronDirection": "+",
          "endIntronOffset": 1263,
          "referenceAllele": "C",
          "start": 355,
          "startIntronDirection": "+",
          "startIntronOffset": 1262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011896",
      "geneNCBI_id": 7128,
      "geneSymbol": "TNFAIP3",
      "hgvs": [
        "ENST00000612899.4:c.-16+1263C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481570.1:n.-16+1263C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401513"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 331,
          "endIntronDirection": "+",
          "endIntronOffset": 1287,
          "referenceAllele": "C",
          "start": 331,
          "startIntronDirection": "+",
          "startIntronOffset": 1286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011896",
      "geneNCBI_id": 7128,
      "geneSymbol": "TNFAIP3",
      "hgvs": [
        "NM_001270507.1:c.-16+1287C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001257436.1:n.-16+1287C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020337"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 355,
          "endIntronDirection": "+",
          "endIntronOffset": 1263,
          "referenceAllele": "C",
          "start": 355,
          "startIntronDirection": "+",
          "startIntronOffset": 1262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011896",
      "geneNCBI_id": 7128,
      "geneSymbol": "TNFAIP3",
      "hgvs": [
        "NM_001270508.1:c.-16+1263C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001257437.1:n.-16+1263C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020338"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 307,
          "endIntronDirection": "+",
          "endIntronOffset": 1311,
          "referenceAllele": "C",
          "start": 307,
          "startIntronDirection": "+",
          "startIntronOffset": 1310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011896",
      "geneNCBI_id": 7128,
      "geneSymbol": "TNFAIP3",
      "hgvs": [
        "NM_006290.3:c.-16+1311C="
      ],
      "proteinEffect": {
        "hgvs": "NP_006281.1:n.-16+1311C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031311"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 350,
          "endIntronDirection": "+",
          "endIntronOffset": 1833,
          "referenceAllele": "C",
          "start": 350,
          "startIntronDirection": "+",
          "startIntronOffset": 1832
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011896",
      "geneNCBI_id": 7128,
      "geneSymbol": "TNFAIP3",
      "hgvs": [
        "XM_011536095.1:c.-16+1833C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011534397.1:n.-16+1833C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103097"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 335,
          "endIntronDirection": "+",
          "endIntronOffset": 1263,
          "referenceAllele": "C",
          "start": 335,
          "startIntronDirection": "+",
          "startIntronOffset": 1262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011896",
      "geneNCBI_id": 7128,
      "geneSymbol": "TNFAIP3",
      "hgvs": [
        "XM_011536096.1:c.-16+1263C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011534398.1:n.-16+1263C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103098"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 325,
          "endIntronDirection": "+",
          "endIntronOffset": 1263,
          "referenceAllele": "C",
          "start": 325,
          "startIntronDirection": "+",
          "startIntronOffset": 1262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011896",
      "geneNCBI_id": 7128,
      "geneSymbol": "TNFAIP3",
      "hgvs": [
        "XM_011536096.2:c.-16+1263C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011534398.1:n.-16+1263C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552329"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1219,
          "referenceAllele": "C",
          "start": 1218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011896",
      "geneNCBI_id": 7128,
      "geneSymbol": "TNFAIP3",
      "hgvs": [
        "XM_024446532.1:c.-2123C="
      ],
      "proteinEffect": {
        "hgvs": "XP_024302300.1:n.-2123C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580192"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 655,
          "endIntronDirection": "+",
          "endIntronOffset": 564,
          "referenceAllele": "C",
          "start": 655,
          "startIntronDirection": "+",
          "startIntronOffset": 563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011896",
      "geneNCBI_id": 7128,
      "geneSymbol": "TNFAIP3",
      "hgvs": [
        "XM_024446533.1:c.-16+564C="
      ],
      "proteinEffect": {
        "hgvs": "XP_024302301.1:n.-16+564C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580193"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 284,
          "endIntronDirection": "+",
          "endIntronOffset": 1263,
          "referenceAllele": "C",
          "start": 284,
          "startIntronDirection": "+",
          "startIntronOffset": 1262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011896",
      "geneNCBI_id": 7128,
      "geneSymbol": "TNFAIP3",
      "hgvs": [
        "NM_001270508.2:c.-16+1263C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001257437.1:n.-16+1263C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664125",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000612899.5:c.-16+1263C="
          },
          "RefSeq": {
            "hgvs": "NM_001270508.2:c.-16+1263C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000481570.1:n.-16+1263C="
          },
          "RefSeq": {
            "hgvs": "NP_001257437.1:n.-16+1263C="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 260,
          "endIntronDirection": "+",
          "endIntronOffset": 1287,
          "referenceAllele": "C",
          "start": 260,
          "startIntronDirection": "+",
          "startIntronOffset": 1286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011896",
      "geneNCBI_id": 7128,
      "geneSymbol": "TNFAIP3",
      "hgvs": [
        "NM_001270507.2:c.-16+1287C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001257436.1:n.-16+1287C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681038"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 236,
          "endIntronDirection": "+",
          "endIntronOffset": 1311,
          "referenceAllele": "C",
          "start": 236,
          "startIntronDirection": "+",
          "startIntronOffset": 1310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011896",
      "geneNCBI_id": 7128,
      "geneSymbol": "TNFAIP3",
      "hgvs": [
        "NM_006290.4:c.-16+1311C="
      ],
      "proteinEffect": {
        "hgvs": "NP_006281.1:n.-16+1311C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696665"
    }
  ],
  "type": "nucleotide"
}