{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2396636202",
  "communityStandardTitle": [
    "NM_006767.4(LZTR1):c.263+3G>C"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2832711[alleleid]",
        "alleleId": 2832711,
        "preferredName": "NM_006767.4(LZTR1):c.263+3G>C"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2676414",
        "RCV": [
          "RCV003461821"
        ],
        "variationId": 2676414
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1924258957",
        "rs": 1924258957
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "C",
          "end": 20983092,
          "referenceAllele": "G",
          "start": 20983091
        }
      ],
      "hgvs": [
        "NC_000022.11:g.20983092G>C",
        "CM000684.2:g.20983092G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "C",
          "end": 21337381,
          "referenceAllele": "G",
          "start": 21337380
        }
      ],
      "hgvs": [
        "NC_000022.10:g.21337381G>C",
        "CM000684.1:g.21337381G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "C",
          "end": 19667381,
          "referenceAllele": "G",
          "start": 19667380
        }
      ],
      "hgvs": [
        "NC_000022.9:g.19667381G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5824,
          "referenceAllele": "G",
          "start": 5823
        }
      ],
      "hgvs": [
        "NG_034193.1:g.5824G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005795"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 345,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 345,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000700578.1:c.263+3G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515073.1:n.263+3G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911326"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 338,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 338,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000493460.2:n.338+3G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757736"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 144,
          "referenceAllele": "G",
          "start": 143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000642151.1:c.144G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766587"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 169,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 169,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000644435.1:c.169+3G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767814"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 304,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 304,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000645935.1:c.263+3G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493479.1:n.263+3G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768614"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 338,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 338,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000646124.2:c.263+3G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496779.1:n.263+3G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768715",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000646124.2:c.263+3G>C"
          },
          "RefSeq": {
            "hgvs": "NM_006767.4:c.263+3G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496779.1:n.263+3G>C"
          },
          "RefSeq": {
            "hgvs": "NP_006758.2:n.263+3G>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 622,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 622,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000215739.12:c.263+3G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000215739.8:n.263+3G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247897"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 366,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 366,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000414985.5:c.263+3G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000397247.1:n.263+3G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS283774"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 317,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 317,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000443265.5:c.268+3G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406466.1:n.268+3G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS297259"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 409,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 409,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000479606.5:n.409+3G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319945"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 338,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 338,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000493460.1:n.338+3G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS330604"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 366,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 366,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "NM_006767.3:c.263+3G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_006758.2:n.263+3G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031753"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 338,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 338,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "NM_006767.4:c.263+3G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_006758.2:n.263+3G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667612",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000646124.2:c.263+3G>C"
          },
          "RefSeq": {
            "hgvs": "NM_006767.4:c.263+3G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496779.1:n.263+3G>C"
          },
          "RefSeq": {
            "hgvs": "NP_006758.2:n.263+3G>C"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}