{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA15969672",
  "communityStandardTitle": [
    "NM_001324.3(CSTF1):c.-33+269A>G"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.54968038A>G?assembly=hg19",
        "id": "chr20:g.54968038A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.56392982A>G?assembly=hg38",
        "id": "chr20:g.56392982A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/16979877",
        "rs": 16979877
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-54968038-A-G?dataset=gnomad_r2_1",
        "id": "20-54968038-A-G",
        "variant": "20:54968038 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-56392982-A-G?dataset=gnomad_r3",
        "id": "20-56392982-A-G",
        "variant": "20:56392982 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-56392982-A-G?dataset=gnomad_r4",
        "id": "20-56392982-A-G",
        "variant": "20:56392982 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "G",
          "end": 56392982,
          "referenceAllele": "A",
          "start": 56392981
        }
      ],
      "hgvs": [
        "NC_000020.11:g.56392982A>G",
        "CM000682.2:g.56392982A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000068"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "G",
          "end": 54968038,
          "referenceAllele": "A",
          "start": 54968037
        }
      ],
      "hgvs": [
        "NC_000020.10:g.54968038A>G",
        "CM000682.1:g.54968038A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000044"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "G",
          "end": 54401445,
          "referenceAllele": "A",
          "start": 54401444
        }
      ],
      "hgvs": [
        "NC_000020.9:g.54401445A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000020"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4314,
          "referenceAllele": "T",
          "start": 4313
        }
      ],
      "hgvs": [
        "NG_012133.1:g.4314T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002216"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 69,
          "endIntronDirection": "+",
          "endIntronOffset": 269,
          "referenceAllele": "A",
          "start": 69,
          "startIntronDirection": "+",
          "startIntronOffset": 268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002483",
      "geneNCBI_id": 1477,
      "geneSymbol": "CSTF1",
      "hgvs": [
        "ENST00000217109.9:c.-33+269A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000217109.4:n.-33+269A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740350",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000217109.9:c.-33+269A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001324.3:c.-33+269A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000217109.4:n.-33+269A>G"
          },
          "RefSeq": {
            "hgvs": "NP_001315.1:n.-33+269A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 320,
          "endIntronDirection": "+",
          "endIntronOffset": 269,
          "referenceAllele": "A",
          "start": 320,
          "startIntronDirection": "+",
          "startIntronOffset": 268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002483",
      "geneNCBI_id": 1477,
      "geneSymbol": "CSTF1",
      "hgvs": [
        "ENST00000217109.8:c.-33+269A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000217109.4:n.-33+269A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248063"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 168,
          "endIntronDirection": "+",
          "endIntronOffset": 444,
          "referenceAllele": "A",
          "start": 168,
          "startIntronDirection": "+",
          "startIntronOffset": 443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002483",
      "geneNCBI_id": 1477,
      "geneSymbol": "CSTF1",
      "hgvs": [
        "ENST00000415828.5:c.-33+444A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387968.1:n.-33+444A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS284171"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 128,
          "endIntronDirection": "+",
          "endIntronOffset": 444,
          "referenceAllele": "A",
          "start": 128,
          "startIntronDirection": "+",
          "startIntronOffset": 443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002483",
      "geneNCBI_id": 1477,
      "geneSymbol": "CSTF1",
      "hgvs": [
        "ENST00000428552.1:c.-1+444A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000405171.1:n.-1+444A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290253"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 165,
          "endIntronDirection": "+",
          "endIntronOffset": 167,
          "referenceAllele": "A",
          "start": 165,
          "startIntronDirection": "+",
          "startIntronOffset": 166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002483",
      "geneNCBI_id": 1477,
      "geneSymbol": "CSTF1",
      "hgvs": [
        "ENST00000452950.1:c.-33+167A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000409035.1:n.-33+167A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS301857"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 19,
          "endIntronDirection": "+",
          "endIntronOffset": 269,
          "referenceAllele": "A",
          "start": 19,
          "startIntronDirection": "+",
          "startIntronOffset": 268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002483",
      "geneNCBI_id": 1477,
      "geneSymbol": "CSTF1",
      "hgvs": [
        "ENST00000490539.1:c.-33+269A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479273.1:n.-33+269A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS328335"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 133,
          "endIntronDirection": "+",
          "endIntronOffset": 167,
          "referenceAllele": "A",
          "start": 133,
          "startIntronDirection": "+",
          "startIntronOffset": 166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002483",
      "geneNCBI_id": 1477,
      "geneSymbol": "CSTF1",
      "hgvs": [
        "ENST00000493039.5:c.-33+167A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477958.1:n.-33+167A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS330282"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 168,
          "endIntronDirection": "+",
          "endIntronOffset": 444,
          "referenceAllele": "A",
          "start": 168,
          "startIntronDirection": "+",
          "startIntronOffset": 443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002483",
      "geneNCBI_id": 1477,
      "geneSymbol": "CSTF1",
      "hgvs": [
        "ENST00000498689.5:n.168+444A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS334639"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 192,
          "endIntronDirection": "+",
          "endIntronOffset": 269,
          "referenceAllele": "A",
          "start": 192,
          "startIntronDirection": "+",
          "startIntronOffset": 268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002483",
      "geneNCBI_id": 1477,
      "geneSymbol": "CSTF1",
      "hgvs": [
        "ENST00000613138.1:n.192+269A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS401618"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 168,
          "endIntronDirection": "+",
          "endIntronOffset": 444,
          "referenceAllele": "A",
          "start": 168,
          "startIntronDirection": "+",
          "startIntronOffset": 443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002483",
      "geneNCBI_id": 1477,
      "geneSymbol": "CSTF1",
      "hgvs": [
        "NM_001033521.1:c.-33+444A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001028693.1:n.-33+444A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009129"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 165,
          "endIntronDirection": "+",
          "endIntronOffset": 167,
          "referenceAllele": "A",
          "start": 165,
          "startIntronDirection": "+",
          "startIntronOffset": 166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002483",
      "geneNCBI_id": 1477,
      "geneSymbol": "CSTF1",
      "hgvs": [
        "NM_001033522.1:c.-33+167A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001028694.1:n.-33+167A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009130"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 196,
          "endIntronDirection": "+",
          "endIntronOffset": 269,
          "referenceAllele": "A",
          "start": 196,
          "startIntronDirection": "+",
          "startIntronOffset": 268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002483",
      "geneNCBI_id": 1477,
      "geneSymbol": "CSTF1",
      "hgvs": [
        "NM_001324.2:c.-33+269A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001315.1:n.-33+269A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026717"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 184,
          "endIntronDirection": "+",
          "endIntronOffset": 243,
          "referenceAllele": "A",
          "start": 184,
          "startIntronDirection": "+",
          "startIntronOffset": 242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002483",
      "geneNCBI_id": 1477,
      "geneSymbol": "CSTF1",
      "hgvs": [
        "XM_011528600.1:c.-33+243A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526902.1:n.-33+243A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095671"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 171,
          "endIntronDirection": "+",
          "endIntronOffset": 167,
          "referenceAllele": "A",
          "start": 171,
          "startIntronDirection": "+",
          "startIntronOffset": 166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002483",
      "geneNCBI_id": 1477,
      "geneSymbol": "CSTF1",
      "hgvs": [
        "NM_001033522.2:c.-33+167A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001028694.1:n.-33+167A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675793"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 69,
          "endIntronDirection": "+",
          "endIntronOffset": 269,
          "referenceAllele": "A",
          "start": 69,
          "startIntronDirection": "+",
          "startIntronOffset": 268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002483",
      "geneNCBI_id": 1477,
      "geneSymbol": "CSTF1",
      "hgvs": [
        "NM_001324.3:c.-33+269A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001315.1:n.-33+269A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686170",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000217109.9:c.-33+269A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001324.3:c.-33+269A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000217109.4:n.-33+269A>G"
          },
          "RefSeq": {
            "hgvs": "NP_001315.1:n.-33+269A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 160,
          "endIntronDirection": "+",
          "endIntronOffset": 444,
          "referenceAllele": "A",
          "start": 160,
          "startIntronDirection": "+",
          "startIntronOffset": 443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002483",
      "geneNCBI_id": 1477,
      "geneSymbol": "CSTF1",
      "hgvs": [
        "NM_001033521.2:c.-33+444A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001028693.1:n.-33+444A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711525"
    }
  ],
  "type": "nucleotide"
}