{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2388017464",
  "communityStandardTitle": [
    "NM_001146079.2(CLDN14):c.11C= (p.Thr4=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/113831133",
        "rs": 113831133
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "G",
          "end": 36461685,
          "referenceAllele": "G",
          "start": 36461684
        }
      ],
      "hgvs": [
        "NC_000021.9:g.36461685G=",
        "CM000683.2:g.36461685G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000069"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "G",
          "end": 37833983,
          "referenceAllele": "G",
          "start": 37833982
        }
      ],
      "hgvs": [
        "NC_000021.8:g.37833983G=",
        "CM000683.1:g.37833983G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000045"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "G",
          "end": 36755853,
          "referenceAllele": "G",
          "start": 36755852
        }
      ],
      "hgvs": [
        "NC_000021.7:g.36755853G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000021"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 119885,
          "referenceAllele": "C",
          "start": 119884
        }
      ],
      "hgvs": [
        "NG_011777.1:g.119885C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001961"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 720,
          "referenceAllele": "C",
          "start": 719
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002035",
      "geneNCBI_id": 23562,
      "geneSymbol": "CLDN14",
      "hgvs": [
        "ENST00000399135.6:c.11C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382087.1:p.Thr4="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753811",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000399135.6:c.11C="
          },
          "RefSeq": {
            "hgvs": "NM_001146079.2:c.11C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000382087.1:p.Thr4="
          },
          "RefSeq": {
            "hgvs": "NP_001139551.1:p.Thr4="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 389,
          "referenceAllele": "C",
          "start": 388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002035",
      "geneNCBI_id": 23562,
      "geneSymbol": "CLDN14",
      "hgvs": [
        "ENST00000342108.2:c.11C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000339292.2:p.Thr4="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261482"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 688,
          "referenceAllele": "C",
          "start": 687
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002035",
      "geneNCBI_id": 23562,
      "geneSymbol": "CLDN14",
      "hgvs": [
        "ENST00000399135.5:c.11C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382087.1:p.Thr4="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278559"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 266,
          "referenceAllele": "C",
          "start": 265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002035",
      "geneNCBI_id": 23562,
      "geneSymbol": "CLDN14",
      "hgvs": [
        "ENST00000399136.5:c.11C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382088.1:p.Thr4="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278560"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 878,
          "referenceAllele": "C",
          "start": 877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002035",
      "geneNCBI_id": 23562,
      "geneSymbol": "CLDN14",
      "hgvs": [
        "ENST00000399137.5:c.11C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382090.1:p.Thr4="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278561"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 167,
          "referenceAllele": "C",
          "start": 166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002035",
      "geneNCBI_id": 23562,
      "geneSymbol": "CLDN14",
      "hgvs": [
        "ENST00000399139.5:c.11C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382092.1:p.Thr4="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278563"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825924712",
      "coordinates": [
        {
          "allele": "C",
          "end": 389,
          "referenceAllele": "C",
          "start": 388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002035",
      "geneNCBI_id": 23562,
      "geneSymbol": "CLDN14",
      "hgvs": [
        "NM_001146077.1:c.11C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001139549.1:p.Thr4="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013851"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825924804",
      "coordinates": [
        {
          "allele": "C",
          "end": 485,
          "referenceAllele": "C",
          "start": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002035",
      "geneNCBI_id": 23562,
      "geneSymbol": "CLDN14",
      "hgvs": [
        "NM_001146078.2:c.11C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001139550.1:p.Thr4="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013852"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825924909",
      "coordinates": [
        {
          "allele": "C",
          "end": 688,
          "referenceAllele": "C",
          "start": 687
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002035",
      "geneNCBI_id": 23562,
      "geneSymbol": "CLDN14",
      "hgvs": [
        "NM_001146079.1:c.11C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001139551.1:p.Thr4="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013853"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829722830",
      "coordinates": [
        {
          "allele": "C",
          "end": 167,
          "referenceAllele": "C",
          "start": 166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002035",
      "geneNCBI_id": 23562,
      "geneSymbol": "CLDN14",
      "hgvs": [
        "NM_012130.3:c.11C="
      ],
      "proteinEffect": {
        "hgvs": "NP_036262.1:p.Thr4="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032334"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830281848",
      "coordinates": [
        {
          "allele": "C",
          "end": 878,
          "referenceAllele": "C",
          "start": 877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002035",
      "geneNCBI_id": 23562,
      "geneSymbol": "CLDN14",
      "hgvs": [
        "NM_144492.2:c.11C="
      ],
      "proteinEffect": {
        "hgvs": "NP_652763.1:p.Thr4="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS041083"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 410,
          "referenceAllele": "C",
          "start": 409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002035",
      "geneNCBI_id": 23562,
      "geneSymbol": "CLDN14",
      "hgvs": [
        "XM_011529519.1:c.11C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011527821.1:p.Thr4="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096588"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 468,
          "endIntronDirection": "+",
          "endIntronOffset": 15678,
          "referenceAllele": "G",
          "start": 468,
          "startIntronDirection": "+",
          "startIntronOffset": 15677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN055953",
      "geneNCBI_id": 105369301,
      "geneSymbol": "CLDN14-AS1",
      "hgvs": [
        "XR_937694.1:n.468+15678G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS132496"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 468,
          "endIntronDirection": "+",
          "endIntronOffset": 15678,
          "referenceAllele": "G",
          "start": 468,
          "startIntronDirection": "+",
          "startIntronOffset": 15677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN055953",
      "geneNCBI_id": 105369301,
      "geneSymbol": "CLDN14-AS1",
      "hgvs": [
        "XR_937695.1:n.468+15678G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS132497"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 468,
          "endIntronDirection": "+",
          "endIntronOffset": 15678,
          "referenceAllele": "G",
          "start": 468,
          "startIntronDirection": "+",
          "startIntronOffset": 15677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN055953",
      "geneNCBI_id": 105369301,
      "geneSymbol": "CLDN14-AS1",
      "hgvs": [
        "XR_937696.1:n.468+15678G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS132498"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 468,
          "endIntronDirection": "+",
          "endIntronOffset": 15678,
          "referenceAllele": "G",
          "start": 468,
          "startIntronDirection": "+",
          "startIntronOffset": 15677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN055953",
      "geneNCBI_id": 105369301,
      "geneSymbol": "CLDN14-AS1",
      "hgvs": [
        "XR_001755025.1:n.468+15678G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600941"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825924909",
      "coordinates": [
        {
          "allele": "C",
          "end": 720,
          "referenceAllele": "C",
          "start": 719
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002035",
      "geneNCBI_id": 23562,
      "geneSymbol": "CLDN14",
      "hgvs": [
        "NM_001146079.2:c.11C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001139551.1:p.Thr4="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663793",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000399135.6:c.11C="
          },
          "RefSeq": {
            "hgvs": "NM_001146079.2:c.11C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000382087.1:p.Thr4="
          },
          "RefSeq": {
            "hgvs": "NP_001139551.1:p.Thr4="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825924804",
      "coordinates": [
        {
          "allele": "C",
          "end": 450,
          "referenceAllele": "C",
          "start": 449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002035",
      "geneNCBI_id": 23562,
      "geneSymbol": "CLDN14",
      "hgvs": [
        "NM_001146078.3:c.11C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001139550.1:p.Thr4="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677981"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829722830",
      "coordinates": [
        {
          "allele": "C",
          "end": 193,
          "referenceAllele": "C",
          "start": 192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002035",
      "geneNCBI_id": 23562,
      "geneSymbol": "CLDN14",
      "hgvs": [
        "NM_012130.4:c.11C="
      ],
      "proteinEffect": {
        "hgvs": "NP_036262.1:p.Thr4="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697004"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830281848",
      "coordinates": [
        {
          "allele": "C",
          "end": 910,
          "referenceAllele": "C",
          "start": 909
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002035",
      "geneNCBI_id": 23562,
      "geneSymbol": "CLDN14",
      "hgvs": [
        "NM_144492.3:c.11C="
      ],
      "proteinEffect": {
        "hgvs": "NP_652763.1:p.Thr4="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699886"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825924712",
      "coordinates": [
        {
          "allele": "C",
          "end": 389,
          "referenceAllele": "C",
          "start": 388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002035",
      "geneNCBI_id": 23562,
      "geneSymbol": "CLDN14",
      "hgvs": [
        "NM_001146077.2:c.11C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001139549.1:p.Thr4="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712876"
    }
  ],
  "type": "nucleotide"
}