{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2173248525",
  "communityStandardTitle": [
    "NM_153700.2(STRC):c.4701+1G="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/199839039",
        "rs": 199839039
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 43601395,
          "referenceAllele": "C",
          "start": 43601394
        }
      ],
      "hgvs": [
        "NC_000015.10:g.43601395C=",
        "CM000677.2:g.43601395C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 43893593,
          "referenceAllele": "C",
          "start": 43893592
        }
      ],
      "hgvs": [
        "NC_000015.9:g.43893593C=",
        "CM000677.1:g.43893593C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 41680885,
          "referenceAllele": "C",
          "start": 41680884
        }
      ],
      "hgvs": [
        "NC_000015.8:g.41680885C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 22406,
          "referenceAllele": "G",
          "start": 22405
        }
      ],
      "hgvs": [
        "NG_011636.1:g.22406G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001871"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4779,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4779,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016035",
      "geneNCBI_id": 161497,
      "geneSymbol": "STRC",
      "hgvs": [
        "ENST00000450892.7:c.4701+1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000401513.2:n.4701+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756310",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000450892.7:c.4701+1G="
          },
          "RefSeq": {
            "hgvs": "NM_153700.2:c.4701+1G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000401513.2:n.4701+1G="
          },
          "RefSeq": {
            "hgvs": "NP_714544.1:n.4701+1G="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 142,
          "endIntronDirection": "+",
          "endIntronOffset": 1862,
          "referenceAllele": "C",
          "start": 142,
          "startIntronDirection": "+",
          "startIntronOffset": 1861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001995",
      "geneNCBI_id": 1159,
      "geneSymbol": "CKMT1B",
      "hgvs": [
        "ENST00000411560.1:n.142+1862C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS282209"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4720,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4720,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016035",
      "geneNCBI_id": 161497,
      "geneSymbol": "STRC",
      "hgvs": [
        "ENST00000428650.5:c.*1734+1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000415991.1:n.*1734+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290298"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3625,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3625,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016035",
      "geneNCBI_id": 161497,
      "geneSymbol": "STRC",
      "hgvs": [
        "ENST00000440125.5:c.*2493+1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394866.1:n.*2493+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295742"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1821,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1821,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016035",
      "geneNCBI_id": 161497,
      "geneSymbol": "STRC",
      "hgvs": [
        "ENST00000448437.6:n.1821+1G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS299729"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4779,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4779,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016035",
      "geneNCBI_id": 161497,
      "geneSymbol": "STRC",
      "hgvs": [
        "ENST00000450892.6:c.4701+1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000401513.2:n.4701+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS300916"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 280,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 280,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016035",
      "geneNCBI_id": 161497,
      "geneSymbol": "STRC",
      "hgvs": [
        "ENST00000460952.1:n.280+1G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS305584"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2655,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2655,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016035",
      "geneNCBI_id": 161497,
      "geneSymbol": "STRC",
      "hgvs": [
        "ENST00000471703.5:n.2655+1G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS313839"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3556,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3556,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016035",
      "geneNCBI_id": 161497,
      "geneSymbol": "STRC",
      "hgvs": [
        "ENST00000485556.5:n.3556+1G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS324551"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 497,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 497,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016035",
      "geneNCBI_id": 161497,
      "geneSymbol": "STRC",
      "hgvs": [
        "ENST00000493750.1:n.497+1G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS330837"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4569,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4569,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016035",
      "geneNCBI_id": 161497,
      "geneSymbol": "STRC",
      "hgvs": [
        "ENST00000541030.5:c.2382+1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440413.1:n.2382+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362724"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4779,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4779,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016035",
      "geneNCBI_id": 161497,
      "geneSymbol": "STRC",
      "hgvs": [
        "NM_153700.2:c.4701+1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_714544.1:n.4701+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042472",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000450892.7:c.4701+1G="
          },
          "RefSeq": {
            "hgvs": "NM_153700.2:c.4701+1G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000401513.2:n.4701+1G="
          },
          "RefSeq": {
            "hgvs": "NP_714544.1:n.4701+1G="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5331,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 5331,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016035",
      "geneNCBI_id": 161497,
      "geneSymbol": "STRC",
      "hgvs": [
        "XM_011521277.1:c.5190+1G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519579.1:n.5190+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088438"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5635,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 5635,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016035",
      "geneNCBI_id": 161497,
      "geneSymbol": "STRC",
      "hgvs": [
        "XM_011521278.1:c.4806+1G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519580.1:n.4806+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088439"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5330,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 5330,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016035",
      "geneNCBI_id": 161497,
      "geneSymbol": "STRC",
      "hgvs": [
        "XM_011521279.1:c.4806+1G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519581.1:n.4806+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088440"
    }
  ],
  "type": "nucleotide"
}