{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1786067958",
  "communityStandardTitle": [
    "NM_001135690.3(PENK):c.138+400C>A"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2576573",
        "rs": 2576573
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 56445416,
          "referenceAllele": "G",
          "start": 56445415
        }
      ],
      "hgvs": [
        "NC_000008.11:g.56445416G>T",
        "CM000670.2:g.56445416G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 57357975,
          "referenceAllele": "G",
          "start": 57357974
        }
      ],
      "hgvs": [
        "NC_000008.10:g.57357975G>T",
        "CM000670.1:g.57357975G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 57520529,
          "referenceAllele": "G",
          "start": 57520528
        }
      ],
      "hgvs": [
        "NC_000008.9:g.57520529G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 270,
          "endIntronDirection": "+",
          "endIntronOffset": 400,
          "referenceAllele": "C",
          "start": 270,
          "startIntronDirection": "+",
          "startIntronOffset": 399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008831",
      "geneNCBI_id": 5179,
      "geneSymbol": "PENK",
      "hgvs": [
        "ENST00000451791.7:c.138+400C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000400894.2:n.138+400C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756350",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000451791.7:c.138+400C>A"
          },
          "RefSeq": {
            "hgvs": "NM_001135690.3:c.138+400C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000400894.2:n.138+400C>A"
          },
          "RefSeq": {
            "hgvs": "NP_001129162.1:n.138+400C>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 215,
          "endIntronDirection": "+",
          "endIntronOffset": 400,
          "referenceAllele": "C",
          "start": 215,
          "startIntronDirection": "+",
          "startIntronOffset": 399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008831",
      "geneNCBI_id": 5179,
      "geneSymbol": "PENK",
      "hgvs": [
        "ENST00000314922.3:c.138+400C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000324248.3:n.138+400C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257029"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 363,
          "endIntronDirection": "+",
          "endIntronOffset": 400,
          "referenceAllele": "C",
          "start": 363,
          "startIntronDirection": "+",
          "startIntronOffset": 399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008831",
      "geneNCBI_id": 5179,
      "geneSymbol": "PENK",
      "hgvs": [
        "ENST00000451791.6:c.138+400C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000400894.2:n.138+400C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS301330"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 129,
          "endIntronDirection": "+",
          "endIntronOffset": 400,
          "referenceAllele": "C",
          "start": 129,
          "startIntronDirection": "+",
          "startIntronOffset": 399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008831",
      "geneNCBI_id": 5179,
      "geneSymbol": "PENK",
      "hgvs": [
        "ENST00000517415.1:c.129+400C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000430268.1:n.129+400C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS345096"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 692,
          "referenceAllele": "C",
          "start": 691
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008831",
      "geneNCBI_id": 5179,
      "geneSymbol": "PENK",
      "hgvs": [
        "ENST00000518770.1:c.*259C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000430592.1:n.*259C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS346152"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 288,
          "endIntronDirection": "+",
          "endIntronOffset": 400,
          "referenceAllele": "C",
          "start": 288,
          "startIntronDirection": "+",
          "startIntronOffset": 399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008831",
      "geneNCBI_id": 5179,
      "geneSymbol": "PENK",
      "hgvs": [
        "ENST00000518974.5:c.138+400C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428012.1:n.138+400C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS346311"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 270,
          "endIntronDirection": "+",
          "endIntronOffset": 400,
          "referenceAllele": "C",
          "start": 270,
          "startIntronDirection": "+",
          "startIntronOffset": 399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008831",
      "geneNCBI_id": 5179,
      "geneSymbol": "PENK",
      "hgvs": [
        "ENST00000523051.5:c.138+400C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000429326.1:n.138+400C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS349523"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 60,
          "endIntronDirection": "+",
          "endIntronOffset": 173,
          "referenceAllele": "C",
          "start": 60,
          "startIntronDirection": "+",
          "startIntronOffset": 172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008831",
      "geneNCBI_id": 5179,
      "geneSymbol": "PENK",
      "hgvs": [
        "ENST00000523274.1:n.60+173C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS349693"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 352,
          "endIntronDirection": "+",
          "endIntronOffset": 400,
          "referenceAllele": "C",
          "start": 352,
          "startIntronDirection": "+",
          "startIntronOffset": 399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008831",
      "geneNCBI_id": 5179,
      "geneSymbol": "PENK",
      "hgvs": [
        "NM_001135690.1:c.138+400C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129162.1:n.138+400C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246712"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 363,
          "endIntronDirection": "+",
          "endIntronOffset": 400,
          "referenceAllele": "C",
          "start": 363,
          "startIntronDirection": "+",
          "startIntronOffset": 399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008831",
      "geneNCBI_id": 5179,
      "geneSymbol": "PENK",
      "hgvs": [
        "NM_001135690.2:c.138+400C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129162.1:n.138+400C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012467"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 219,
          "endIntronDirection": "+",
          "endIntronOffset": 400,
          "referenceAllele": "C",
          "start": 219,
          "startIntronDirection": "+",
          "startIntronOffset": 399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008831",
      "geneNCBI_id": 5179,
      "geneSymbol": "PENK",
      "hgvs": [
        "NM_006211.3:c.138+400C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_006202.1:n.138+400C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246899"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 270,
          "endIntronDirection": "+",
          "endIntronOffset": 400,
          "referenceAllele": "C",
          "start": 270,
          "startIntronDirection": "+",
          "startIntronOffset": 399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008831",
      "geneNCBI_id": 5179,
      "geneSymbol": "PENK",
      "hgvs": [
        "NM_001135690.3:c.138+400C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129162.1:n.138+400C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663659",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000451791.7:c.138+400C>A"
          },
          "RefSeq": {
            "hgvs": "NM_001135690.3:c.138+400C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000400894.2:n.138+400C>A"
          },
          "RefSeq": {
            "hgvs": "NP_001129162.1:n.138+400C>A"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}