{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA388398781",
  "communityStandardTitle": [
    "NM_005845.5(ABCC4):c.2034+1G>T"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1694192[alleleid]",
        "alleleId": 1694192,
        "preferredName": "NM_005845.5(ABCC4):c.2034+1G>T"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1701802",
        "RCV": [
          "RCV002275700"
        ],
        "variationId": 1701802
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.95818411C>A?assembly=hg19",
        "id": "chr13:g.95818411C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.95166157C>A?assembly=hg38",
        "id": "chr13:g.95166157C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/372399293",
        "rs": 372399293
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "A",
          "end": 95166157,
          "referenceAllele": "C",
          "start": 95166156
        }
      ],
      "hgvs": [
        "NC_000013.11:g.95166157C>A",
        "CM000675.2:g.95166157C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "A",
          "end": 95818411,
          "referenceAllele": "C",
          "start": 95818410
        }
      ],
      "hgvs": [
        "NC_000013.10:g.95818411C>A",
        "CM000675.1:g.95818411C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "A",
          "end": 94616412,
          "referenceAllele": "C",
          "start": 94616411
        }
      ],
      "hgvs": [
        "NC_000013.9:g.94616412C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 140290,
          "referenceAllele": "G",
          "start": 140289
        }
      ],
      "hgvs": [
        "NG_050651.1:g.140290G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616767"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 140290,
          "referenceAllele": "G",
          "start": 140289
        }
      ],
      "hgvs": [
        "NG_050651.2:g.140290G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS733367"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2195,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2195,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000055",
      "geneNCBI_id": 10257,
      "geneSymbol": "ABCC4",
      "hgvs": [
        "ENST00000643051.1:c.2034+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495513.1:n.2034+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767063"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2175,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2175,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000055",
      "geneNCBI_id": 10257,
      "geneSymbol": "ABCC4",
      "hgvs": [
        "ENST00000643556.1:c.2175+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494938.1:n.2175+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767344"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2317,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2317,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000055",
      "geneNCBI_id": 10257,
      "geneSymbol": "ABCC4",
      "hgvs": [
        "ENST00000643816.1:n.2317+1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767489"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2337,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2337,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000055",
      "geneNCBI_id": 10257,
      "geneSymbol": "ABCC4",
      "hgvs": [
        "ENST00000643842.1:c.*2080+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493861.1:n.*2080+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767503"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2171,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2171,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000055",
      "geneNCBI_id": 10257,
      "geneSymbol": "ABCC4",
      "hgvs": [
        "ENST00000645237.2:c.2034+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494609.1:n.2034+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768238",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000645237.2:c.2034+1G>T"
          },
          "RefSeq": {
            "hgvs": "NM_005845.5:c.2034+1G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000494609.1:n.2034+1G>T"
          },
          "RefSeq": {
            "hgvs": "NP_005836.2:n.2034+1G>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2039,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2039,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000055",
      "geneNCBI_id": 10257,
      "geneSymbol": "ABCC4",
      "hgvs": [
        "ENST00000646439.1:c.2034+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494751.1:n.2034+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768873"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2149,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2149,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000055",
      "geneNCBI_id": 10257,
      "geneSymbol": "ABCC4",
      "hgvs": [
        "ENST00000376887.8:c.2034+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366084.4:n.2034+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271356"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1928,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1928,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000055",
      "geneNCBI_id": 10257,
      "geneSymbol": "ABCC4",
      "hgvs": [
        "ENST00000536256.3:c.1809+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442024.1:n.1809+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360179"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2166,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2166,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000055",
      "geneNCBI_id": 10257,
      "geneSymbol": "ABCC4",
      "hgvs": [
        "ENST00000629385.1:c.2034+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000487081.1:n.2034+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407216"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2166,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2166,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000055",
      "geneNCBI_id": 10257,
      "geneSymbol": "ABCC4",
      "hgvs": [
        "NM_001105515.2:c.2034+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001098985.1:n.2034+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011085"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2166,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2166,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000055",
      "geneNCBI_id": 10257,
      "geneSymbol": "ABCC4",
      "hgvs": [
        "NM_001301829.1:c.2034+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001288758.1:n.2034+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025247"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1941,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1941,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000055",
      "geneNCBI_id": 10257,
      "geneSymbol": "ABCC4",
      "hgvs": [
        "NM_001301830.1:c.1809+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001288759.1:n.1809+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025248"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2166,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2166,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000055",
      "geneNCBI_id": 10257,
      "geneSymbol": "ABCC4",
      "hgvs": [
        "NM_005845.4:c.2034+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005836.2:n.2034+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030905"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2226,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2226,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000055",
      "geneNCBI_id": 10257,
      "geneSymbol": "ABCC4",
      "hgvs": [
        "XM_005254025.2:c.1905+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005254082.1:n.1905+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060466"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2071,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2071,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000055",
      "geneNCBI_id": 10257,
      "geneSymbol": "ABCC4",
      "hgvs": [
        "XM_006719914.1:c.1944+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719977.1:n.1944+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073389"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1524,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1524,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000055",
      "geneNCBI_id": 10257,
      "geneSymbol": "ABCC4",
      "hgvs": [
        "XM_011521047.1:c.1485+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519349.1:n.1485+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088211"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2312,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2312,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000055",
      "geneNCBI_id": 10257,
      "geneSymbol": "ABCC4",
      "hgvs": [
        "XM_017020319.1:c.1905+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875808.1:n.1905+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571820"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2153,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2153,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000055",
      "geneNCBI_id": 10257,
      "geneSymbol": "ABCC4",
      "hgvs": [
        "XM_017020320.2:c.2034+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875809.1:n.2034+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571821"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1681,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1681,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000055",
      "geneNCBI_id": 10257,
      "geneSymbol": "ABCC4",
      "hgvs": [
        "XM_017020321.1:c.519+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875810.1:n.519+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571822"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2175,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2175,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000055",
      "geneNCBI_id": 10257,
      "geneSymbol": "ABCC4",
      "hgvs": [
        "XM_017020322.1:c.1905+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875811.1:n.1905+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571823"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2171,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2171,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000055",
      "geneNCBI_id": 10257,
      "geneSymbol": "ABCC4",
      "hgvs": [
        "NM_001105515.3:c.2034+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001098985.1:n.2034+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676638"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2171,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2171,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000055",
      "geneNCBI_id": 10257,
      "geneSymbol": "ABCC4",
      "hgvs": [
        "NM_001301829.2:c.2034+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001288758.1:n.2034+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683434"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1946,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1946,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000055",
      "geneNCBI_id": 10257,
      "geneSymbol": "ABCC4",
      "hgvs": [
        "NM_001301830.2:c.1809+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001288759.1:n.1809+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683435"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2171,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2171,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000055",
      "geneNCBI_id": 10257,
      "geneSymbol": "ABCC4",
      "hgvs": [
        "NM_005845.5:c.2034+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005836.2:n.2034+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727674",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000645237.2:c.2034+1G>T"
          },
          "RefSeq": {
            "hgvs": "NM_005845.5:c.2034+1G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000494609.1:n.2034+1G>T"
          },
          "RefSeq": {
            "hgvs": "NP_005836.2:n.2034+1G>T"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}