{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA411094932",
  "communityStandardTitle": [
    "NM_001206998.2(ZNRF3):c.427-2A>G"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=4007211[alleleid]",
        "alleleId": 4007211,
        "preferredName": "NM_001206998.2(ZNRF3):c.427-2A>G"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3891316",
        "RCV": [
          "RCV005398041"
        ],
        "variationId": 3891316
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.29438481A>G?assembly=hg19",
        "id": "chr22:g.29438481A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.29042493A>G?assembly=hg38",
        "id": "chr22:g.29042493A>G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "G",
          "end": 29042493,
          "referenceAllele": "A",
          "start": 29042492
        }
      ],
      "hgvs": [
        "NC_000022.11:g.29042493A>G",
        "CM000684.2:g.29042493A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "G",
          "end": 29438481,
          "referenceAllele": "A",
          "start": 29438480
        }
      ],
      "hgvs": [
        "NC_000022.10:g.29438481A>G",
        "CM000684.1:g.29438481A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "G",
          "end": 27768481,
          "referenceAllele": "A",
          "start": 27768480
        }
      ],
      "hgvs": [
        "NC_000022.9:g.27768481A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 621,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 621,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018126",
      "geneNCBI_id": 84133,
      "geneSymbol": "ZNRF3",
      "hgvs": [
        "ENST00000544604.7:c.427-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443824.2:n.427-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759775",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000544604.7:c.427-2A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001206998.2:c.427-2A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000443824.2:n.427-2A>G"
          },
          "RefSeq": {
            "hgvs": "NP_001193927.1:n.427-2A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 219,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 219,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018126",
      "geneNCBI_id": 84133,
      "geneSymbol": "ZNRF3",
      "hgvs": [
        "ENST00000402174.5:c.127-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384456.1:n.127-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279428"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 150,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 150,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018126",
      "geneNCBI_id": 84133,
      "geneSymbol": "ZNRF3",
      "hgvs": [
        "ENST00000406323.3:c.127-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384553.3:n.127-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280597"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 601,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 601,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018126",
      "geneNCBI_id": 84133,
      "geneSymbol": "ZNRF3",
      "hgvs": [
        "ENST00000544604.6:c.427-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443824.2:n.427-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364660"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 426,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 426,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018126",
      "geneNCBI_id": 84133,
      "geneSymbol": "ZNRF3",
      "hgvs": [
        "NM_001206998.1:c.427-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001193927.1:n.427-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017940"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 219,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 219,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018126",
      "geneNCBI_id": 84133,
      "geneSymbol": "ZNRF3",
      "hgvs": [
        "NM_032173.3:c.127-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_115549.2:n.127-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038894"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 142,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 142,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018126",
      "geneNCBI_id": 84133,
      "geneSymbol": "ZNRF3",
      "hgvs": [
        "XM_005261773.2:c.127-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005261830.1:n.127-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063216"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 496,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 496,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018126",
      "geneNCBI_id": 84133,
      "geneSymbol": "ZNRF3",
      "hgvs": [
        "XM_011530434.1:c.175-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528736.1:n.175-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097490"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 418,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 418,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018126",
      "geneNCBI_id": 84133,
      "geneSymbol": "ZNRF3",
      "hgvs": [
        "XM_011530435.1:c.142-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528737.1:n.142-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097491"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 474,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 474,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018126",
      "geneNCBI_id": 84133,
      "geneSymbol": "ZNRF3",
      "hgvs": [
        "XM_011530436.1:c.142-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528738.1:n.142-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097492"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1140,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1140,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018126",
      "geneNCBI_id": 84133,
      "geneSymbol": "ZNRF3",
      "hgvs": [
        "XM_011530437.1:c.142-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528739.1:n.142-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097493"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 604,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 604,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018126",
      "geneNCBI_id": 84133,
      "geneSymbol": "ZNRF3",
      "hgvs": [
        "XM_011530438.1:c.142-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528740.1:n.142-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097494"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 146,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 146,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018126",
      "geneNCBI_id": 84133,
      "geneSymbol": "ZNRF3",
      "hgvs": [
        "XM_011530439.1:c.139-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528741.1:n.139-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097495"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 146,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 146,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018126",
      "geneNCBI_id": 84133,
      "geneSymbol": "ZNRF3",
      "hgvs": [
        "XM_011530440.1:c.127-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528742.1:n.127-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097496"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 143,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 143,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018126",
      "geneNCBI_id": 84133,
      "geneSymbol": "ZNRF3",
      "hgvs": [
        "XM_011530441.1:c.127-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528743.1:n.127-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097497"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 415,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 415,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018126",
      "geneNCBI_id": 84133,
      "geneSymbol": "ZNRF3",
      "hgvs": [
        "XM_011530435.2:c.142-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528737.1:n.142-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549976"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 474,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 474,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018126",
      "geneNCBI_id": 84133,
      "geneSymbol": "ZNRF3",
      "hgvs": [
        "XM_011530436.3:c.142-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528738.1:n.142-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549977"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 656,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 656,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018126",
      "geneNCBI_id": 84133,
      "geneSymbol": "ZNRF3",
      "hgvs": [
        "XM_011530438.2:c.142-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528740.1:n.142-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549978"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 911,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 911,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018126",
      "geneNCBI_id": 84133,
      "geneSymbol": "ZNRF3",
      "hgvs": [
        "XM_017028990.1:c.142-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884479.1:n.142-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578617"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 172,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 172,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018126",
      "geneNCBI_id": 84133,
      "geneSymbol": "ZNRF3",
      "hgvs": [
        "XM_024452286.1:c.-147-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308054.1:n.-147-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585783"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 621,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 621,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018126",
      "geneNCBI_id": 84133,
      "geneSymbol": "ZNRF3",
      "hgvs": [
        "NM_001206998.2:c.427-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001193927.1:n.427-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679993",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000544604.7:c.427-2A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001206998.2:c.427-2A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000443824.2:n.427-2A>G"
          },
          "RefSeq": {
            "hgvs": "NP_001193927.1:n.427-2A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 219,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 219,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018126",
      "geneNCBI_id": 84133,
      "geneSymbol": "ZNRF3",
      "hgvs": [
        "NM_032173.4:c.127-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_115549.2:n.127-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728806"
    }
  ],
  "type": "nucleotide"
}