{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2112135250",
  "communityStandardTitle": [
    "NM_005845.5(ABCC4):c.306+1022T="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/4148441",
        "rs": 4148441
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "A",
          "end": 95245953,
          "referenceAllele": "A",
          "start": 95245952
        }
      ],
      "hgvs": [
        "NC_000013.11:g.95245953A=",
        "CM000675.2:g.95245953A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "A",
          "end": 95898207,
          "referenceAllele": "A",
          "start": 95898206
        }
      ],
      "hgvs": [
        "NC_000013.10:g.95898207A=",
        "CM000675.1:g.95898207A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "A",
          "end": 94696208,
          "referenceAllele": "A",
          "start": 94696207
        }
      ],
      "hgvs": [
        "NC_000013.9:g.94696208A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 60494,
          "referenceAllele": "T",
          "start": 60493
        }
      ],
      "hgvs": [
        "NG_050651.1:g.60494T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616767"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 60494,
          "referenceAllele": "T",
          "start": 60493
        }
      ],
      "hgvs": [
        "NG_050651.2:g.60494T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS733367"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 593,
          "endIntronDirection": "+",
          "endIntronOffset": 1022,
          "referenceAllele": "T",
          "start": 593,
          "startIntronDirection": "+",
          "startIntronOffset": 1021
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000055",
      "geneNCBI_id": 10257,
      "geneSymbol": "ABCC4",
      "hgvs": [
        "ENST00000642524.1:c.*339+1022T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493766.1:n.*339+1022T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766794"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 467,
          "endIntronDirection": "+",
          "endIntronOffset": 1022,
          "referenceAllele": "T",
          "start": 467,
          "startIntronDirection": "+",
          "startIntronOffset": 1021
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000055",
      "geneNCBI_id": 10257,
      "geneSymbol": "ABCC4",
      "hgvs": [
        "ENST00000643051.1:c.306+1022T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495513.1:n.306+1022T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767063"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 447,
          "endIntronDirection": "+",
          "endIntronOffset": 1022,
          "referenceAllele": "T",
          "start": 447,
          "startIntronDirection": "+",
          "startIntronOffset": 1021
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000055",
      "geneNCBI_id": 10257,
      "geneSymbol": "ABCC4",
      "hgvs": [
        "ENST00000643556.1:c.447+1022T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494938.1:n.447+1022T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767344"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 589,
          "endIntronDirection": "+",
          "endIntronOffset": 1022,
          "referenceAllele": "T",
          "start": 589,
          "startIntronDirection": "+",
          "startIntronOffset": 1021
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000055",
      "geneNCBI_id": 10257,
      "geneSymbol": "ABCC4",
      "hgvs": [
        "ENST00000643816.1:n.589+1022T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767489"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 609,
          "endIntronDirection": "+",
          "endIntronOffset": 1022,
          "referenceAllele": "T",
          "start": 609,
          "startIntronDirection": "+",
          "startIntronOffset": 1021
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000055",
      "geneNCBI_id": 10257,
      "geneSymbol": "ABCC4",
      "hgvs": [
        "ENST00000643842.1:c.*352+1022T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493861.1:n.*352+1022T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767503"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 402,
          "endIntronDirection": "+",
          "endIntronOffset": 1022,
          "referenceAllele": "T",
          "start": 402,
          "startIntronDirection": "+",
          "startIntronOffset": 1021
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000055",
      "geneNCBI_id": 10257,
      "geneSymbol": "ABCC4",
      "hgvs": [
        "ENST00000644471.1:n.402+1022T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767831"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 443,
          "endIntronDirection": "+",
          "endIntronOffset": 1022,
          "referenceAllele": "T",
          "start": 443,
          "startIntronDirection": "+",
          "startIntronOffset": 1021
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000055",
      "geneNCBI_id": 10257,
      "geneSymbol": "ABCC4",
      "hgvs": [
        "ENST00000645237.2:c.306+1022T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494609.1:n.306+1022T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768238",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000645237.2:c.306+1022T="
          },
          "RefSeq": {
            "hgvs": "NM_005845.5:c.306+1022T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000494609.1:n.306+1022T="
          },
          "RefSeq": {
            "hgvs": "NP_005836.2:n.306+1022T="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 440,
          "endIntronDirection": "+",
          "endIntronOffset": 1022,
          "referenceAllele": "T",
          "start": 440,
          "startIntronDirection": "+",
          "startIntronOffset": 1021
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000055",
      "geneNCBI_id": 10257,
      "geneSymbol": "ABCC4",
      "hgvs": [
        "ENST00000645532.1:c.345+1022T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494431.1:n.345+1022T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768407"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 311,
          "endIntronDirection": "+",
          "endIntronOffset": 1022,
          "referenceAllele": "T",
          "start": 311,
          "startIntronDirection": "+",
          "startIntronOffset": 1021
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000055",
      "geneNCBI_id": 10257,
      "geneSymbol": "ABCC4",
      "hgvs": [
        "ENST00000646439.1:c.306+1022T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494751.1:n.306+1022T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768873"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 421,
          "endIntronDirection": "+",
          "endIntronOffset": 1022,
          "referenceAllele": "T",
          "start": 421,
          "startIntronDirection": "+",
          "startIntronOffset": 1021
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000055",
      "geneNCBI_id": 10257,
      "geneSymbol": "ABCC4",
      "hgvs": [
        "ENST00000376887.8:c.306+1022T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366084.4:n.306+1022T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271356"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 425,
          "endIntronDirection": "+",
          "endIntronOffset": 1022,
          "referenceAllele": "T",
          "start": 425,
          "startIntronDirection": "+",
          "startIntronOffset": 1021
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000055",
      "geneNCBI_id": 10257,
      "geneSymbol": "ABCC4",
      "hgvs": [
        "ENST00000536256.3:c.306+1022T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442024.1:n.306+1022T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360179"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 438,
          "endIntronDirection": "+",
          "endIntronOffset": 1022,
          "referenceAllele": "T",
          "start": 438,
          "startIntronDirection": "+",
          "startIntronOffset": 1021
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000055",
      "geneNCBI_id": 10257,
      "geneSymbol": "ABCC4",
      "hgvs": [
        "ENST00000629385.1:c.306+1022T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000487081.1:n.306+1022T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407216"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 438,
          "endIntronDirection": "+",
          "endIntronOffset": 1022,
          "referenceAllele": "T",
          "start": 438,
          "startIntronDirection": "+",
          "startIntronOffset": 1021
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000055",
      "geneNCBI_id": 10257,
      "geneSymbol": "ABCC4",
      "hgvs": [
        "NM_001105515.2:c.306+1022T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001098985.1:n.306+1022T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011085"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 438,
          "endIntronDirection": "+",
          "endIntronOffset": 1022,
          "referenceAllele": "T",
          "start": 438,
          "startIntronDirection": "+",
          "startIntronOffset": 1021
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000055",
      "geneNCBI_id": 10257,
      "geneSymbol": "ABCC4",
      "hgvs": [
        "NM_001301829.1:c.306+1022T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001288758.1:n.306+1022T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025247"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 438,
          "endIntronDirection": "+",
          "endIntronOffset": 1022,
          "referenceAllele": "T",
          "start": 438,
          "startIntronDirection": "+",
          "startIntronOffset": 1021
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000055",
      "geneNCBI_id": 10257,
      "geneSymbol": "ABCC4",
      "hgvs": [
        "NM_001301830.1:c.306+1022T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001288759.1:n.306+1022T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025248"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 438,
          "endIntronDirection": "+",
          "endIntronOffset": 1022,
          "referenceAllele": "T",
          "start": 438,
          "startIntronDirection": "+",
          "startIntronOffset": 1021
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000055",
      "geneNCBI_id": 10257,
      "geneSymbol": "ABCC4",
      "hgvs": [
        "NM_005845.4:c.306+1022T="
      ],
      "proteinEffect": {
        "hgvs": "NP_005836.2:n.306+1022T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030905"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 498,
          "endIntronDirection": "+",
          "endIntronOffset": 1022,
          "referenceAllele": "T",
          "start": 498,
          "startIntronDirection": "+",
          "startIntronOffset": 1021
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000055",
      "geneNCBI_id": 10257,
      "geneSymbol": "ABCC4",
      "hgvs": [
        "XM_005254025.2:c.177+1022T="
      ],
      "proteinEffect": {
        "hgvs": "XP_005254082.1:n.177+1022T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060466"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 433,
          "endIntronDirection": "+",
          "endIntronOffset": 1022,
          "referenceAllele": "T",
          "start": 433,
          "startIntronDirection": "+",
          "startIntronOffset": 1021
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000055",
      "geneNCBI_id": 10257,
      "geneSymbol": "ABCC4",
      "hgvs": [
        "XM_006719914.1:c.306+1022T="
      ],
      "proteinEffect": {
        "hgvs": "XP_006719977.1:n.306+1022T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073389"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 584,
          "endIntronDirection": "+",
          "endIntronOffset": 1022,
          "referenceAllele": "T",
          "start": 584,
          "startIntronDirection": "+",
          "startIntronOffset": 1021
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000055",
      "geneNCBI_id": 10257,
      "geneSymbol": "ABCC4",
      "hgvs": [
        "XM_017020319.1:c.177+1022T="
      ],
      "proteinEffect": {
        "hgvs": "XP_016875808.1:n.177+1022T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571820"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 425,
          "endIntronDirection": "+",
          "endIntronOffset": 1022,
          "referenceAllele": "T",
          "start": 425,
          "startIntronDirection": "+",
          "startIntronOffset": 1021
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000055",
      "geneNCBI_id": 10257,
      "geneSymbol": "ABCC4",
      "hgvs": [
        "XM_017020320.2:c.306+1022T="
      ],
      "proteinEffect": {
        "hgvs": "XP_016875809.1:n.306+1022T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571821"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 447,
          "endIntronDirection": "+",
          "endIntronOffset": 1022,
          "referenceAllele": "T",
          "start": 447,
          "startIntronDirection": "+",
          "startIntronOffset": 1021
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000055",
      "geneNCBI_id": 10257,
      "geneSymbol": "ABCC4",
      "hgvs": [
        "XM_017020322.1:c.177+1022T="
      ],
      "proteinEffect": {
        "hgvs": "XP_016875811.1:n.177+1022T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571823"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 443,
          "endIntronDirection": "+",
          "endIntronOffset": 1022,
          "referenceAllele": "T",
          "start": 443,
          "startIntronDirection": "+",
          "startIntronOffset": 1021
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000055",
      "geneNCBI_id": 10257,
      "geneSymbol": "ABCC4",
      "hgvs": [
        "NM_001105515.3:c.306+1022T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001098985.1:n.306+1022T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676638"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 443,
          "endIntronDirection": "+",
          "endIntronOffset": 1022,
          "referenceAllele": "T",
          "start": 443,
          "startIntronDirection": "+",
          "startIntronOffset": 1021
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000055",
      "geneNCBI_id": 10257,
      "geneSymbol": "ABCC4",
      "hgvs": [
        "NM_001301829.2:c.306+1022T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001288758.1:n.306+1022T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683434"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 443,
          "endIntronDirection": "+",
          "endIntronOffset": 1022,
          "referenceAllele": "T",
          "start": 443,
          "startIntronDirection": "+",
          "startIntronOffset": 1021
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000055",
      "geneNCBI_id": 10257,
      "geneSymbol": "ABCC4",
      "hgvs": [
        "NM_001301830.2:c.306+1022T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001288759.1:n.306+1022T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683435"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 443,
          "endIntronDirection": "+",
          "endIntronOffset": 1022,
          "referenceAllele": "T",
          "start": 443,
          "startIntronDirection": "+",
          "startIntronOffset": 1021
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000055",
      "geneNCBI_id": 10257,
      "geneSymbol": "ABCC4",
      "hgvs": [
        "NM_005845.5:c.306+1022T="
      ],
      "proteinEffect": {
        "hgvs": "NP_005836.2:n.306+1022T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727674",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000645237.2:c.306+1022T="
          },
          "RefSeq": {
            "hgvs": "NM_005845.5:c.306+1022T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000494609.1:n.306+1022T="
          },
          "RefSeq": {
            "hgvs": "NP_005836.2:n.306+1022T="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}