{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1770294071",
  "communityStandardTitle": [
    "NM_014759.5(PHYHIP):c.-29-592C="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/4871976",
        "rs": 4871976
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "G",
          "end": 22228978,
          "referenceAllele": "G",
          "start": 22228977
        }
      ],
      "hgvs": [
        "NC_000008.11:g.22228978G=",
        "CM000670.2:g.22228978G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "G",
          "end": 22086491,
          "referenceAllele": "G",
          "start": 22086490
        }
      ],
      "hgvs": [
        "NC_000008.10:g.22086491G=",
        "CM000670.1:g.22086491G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "G",
          "end": 22142436,
          "referenceAllele": "G",
          "start": 22142435
        }
      ],
      "hgvs": [
        "NC_000008.9:g.22142436G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 304,
          "endIntronDirection": "-",
          "endIntronOffset": 591,
          "referenceAllele": "C",
          "start": 304,
          "startIntronDirection": "-",
          "startIntronOffset": 592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016865",
      "geneNCBI_id": 9796,
      "geneSymbol": "PHYHIP",
      "hgvs": [
        "ENST00000454243.7:c.-29-592C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000415491.2:n.-29-592C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756458",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000454243.7:c.-29-592C="
          },
          "RefSeq": {
            "hgvs": "NM_014759.5:c.-29-592C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000415491.2:n.-29-592C="
          },
          "RefSeq": {
            "hgvs": "NP_055574.3:n.-29-592C="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 306,
          "endIntronDirection": "-",
          "endIntronOffset": 68,
          "referenceAllele": "C",
          "start": 306,
          "startIntronDirection": "-",
          "startIntronOffset": 69
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016865",
      "geneNCBI_id": 9796,
      "geneSymbol": "PHYHIP",
      "hgvs": [
        "ENST00000321613.7:c.-151-69C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000320017.3:n.-151-69C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257968"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 546,
          "endIntronDirection": "-",
          "endIntronOffset": 591,
          "referenceAllele": "C",
          "start": 546,
          "startIntronDirection": "-",
          "startIntronOffset": 592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016865",
      "geneNCBI_id": 9796,
      "geneSymbol": "PHYHIP",
      "hgvs": [
        "ENST00000454243.6:c.-29-592C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000415491.2:n.-29-592C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS302482"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 543,
          "endIntronDirection": "-",
          "endIntronOffset": 68,
          "referenceAllele": "C",
          "start": 543,
          "startIntronDirection": "-",
          "startIntronOffset": 69
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016865",
      "geneNCBI_id": 9796,
      "geneSymbol": "PHYHIP",
      "hgvs": [
        "NM_001099335.1:c.-151-69C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001092805.1:n.-151-69C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010729"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 543,
          "endIntronDirection": "-",
          "endIntronOffset": 591,
          "referenceAllele": "C",
          "start": 543,
          "startIntronDirection": "-",
          "startIntronOffset": 592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016865",
      "geneNCBI_id": 9796,
      "geneSymbol": "PHYHIP",
      "hgvs": [
        "NM_014759.3:c.-29-592C="
      ],
      "proteinEffect": {
        "hgvs": "NP_055574.3:n.-29-592C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033441"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 338,
          "endIntronDirection": "-",
          "endIntronOffset": 591,
          "referenceAllele": "C",
          "start": 338,
          "startIntronDirection": "-",
          "startIntronOffset": 592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016865",
      "geneNCBI_id": 9796,
      "geneSymbol": "PHYHIP",
      "hgvs": [
        "XM_006716416.1:c.-29-592C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006716479.1:n.-29-592C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071667"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 338,
          "endIntronDirection": "-",
          "endIntronOffset": 591,
          "referenceAllele": "C",
          "start": 338,
          "startIntronDirection": "-",
          "startIntronOffset": 592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016865",
      "geneNCBI_id": 9796,
      "geneSymbol": "PHYHIP",
      "hgvs": [
        "XR_247134.2:n.339-592C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS117284"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 557,
          "endIntronDirection": "-",
          "endIntronOffset": 68,
          "referenceAllele": "C",
          "start": 557,
          "startIntronDirection": "-",
          "startIntronOffset": 69
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016865",
      "geneNCBI_id": 9796,
      "geneSymbol": "PHYHIP",
      "hgvs": [
        "NM_001363311.1:c.-151-69C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001350240.1:n.-151-69C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523244"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 557,
          "endIntronDirection": "-",
          "endIntronOffset": 591,
          "referenceAllele": "C",
          "start": 557,
          "startIntronDirection": "-",
          "startIntronOffset": 592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016865",
      "geneNCBI_id": 9796,
      "geneSymbol": "PHYHIP",
      "hgvs": [
        "NM_001363312.1:c.-29-592C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001350241.1:n.-29-592C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523245"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 557,
          "endIntronDirection": "-",
          "endIntronOffset": 591,
          "referenceAllele": "C",
          "start": 557,
          "startIntronDirection": "-",
          "startIntronOffset": 592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016865",
      "geneNCBI_id": 9796,
      "geneSymbol": "PHYHIP",
      "hgvs": [
        "NR_156475.1:n.558-592C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531918"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 304,
          "endIntronDirection": "-",
          "endIntronOffset": 591,
          "referenceAllele": "C",
          "start": 304,
          "startIntronDirection": "-",
          "startIntronOffset": 592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016865",
      "geneNCBI_id": 9796,
      "geneSymbol": "PHYHIP",
      "hgvs": [
        "NM_014759.4:c.-29-592C="
      ],
      "proteinEffect": {
        "hgvs": "NP_055574.3:n.-29-592C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668487"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 304,
          "endIntronDirection": "-",
          "endIntronOffset": 591,
          "referenceAllele": "C",
          "start": 304,
          "startIntronDirection": "-",
          "startIntronOffset": 592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016865",
      "geneNCBI_id": 9796,
      "geneSymbol": "PHYHIP",
      "hgvs": [
        "NM_014759.5:c.-29-592C="
      ],
      "proteinEffect": {
        "hgvs": "NP_055574.3:n.-29-592C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697337",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000454243.7:c.-29-592C="
          },
          "RefSeq": {
            "hgvs": "NM_014759.5:c.-29-592C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000415491.2:n.-29-592C="
          },
          "RefSeq": {
            "hgvs": "NP_055574.3:n.-29-592C="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 304,
          "endIntronDirection": "-",
          "endIntronOffset": 68,
          "referenceAllele": "C",
          "start": 304,
          "startIntronDirection": "-",
          "startIntronOffset": 69
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016865",
      "geneNCBI_id": 9796,
      "geneSymbol": "PHYHIP",
      "hgvs": [
        "NM_001099335.2:c.-151-69C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001092805.1:n.-151-69C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711953"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 304,
          "endIntronDirection": "-",
          "endIntronOffset": 68,
          "referenceAllele": "C",
          "start": 304,
          "startIntronDirection": "-",
          "startIntronOffset": 69
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016865",
      "geneNCBI_id": 9796,
      "geneSymbol": "PHYHIP",
      "hgvs": [
        "NM_001363311.2:c.-151-69C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001350240.1:n.-151-69C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720710"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 304,
          "endIntronDirection": "-",
          "endIntronOffset": 591,
          "referenceAllele": "C",
          "start": 304,
          "startIntronDirection": "-",
          "startIntronOffset": 592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016865",
      "geneNCBI_id": 9796,
      "geneSymbol": "PHYHIP",
      "hgvs": [
        "NM_001363312.2:c.-29-592C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001350241.1:n.-29-592C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720711"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 304,
          "endIntronDirection": "-",
          "endIntronOffset": 591,
          "referenceAllele": "C",
          "start": 304,
          "startIntronDirection": "-",
          "startIntronOffset": 592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016865",
      "geneNCBI_id": 9796,
      "geneSymbol": "PHYHIP",
      "hgvs": [
        "NR_156475.2:n.305-592C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731557"
    }
  ],
  "type": "nucleotide"
}