{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA410779555",
  "communityStandardTitle": [
    "NM_006767.4(LZTR1):c.401-2A>C"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2832706[alleleid]",
        "alleleId": 2832706,
        "preferredName": "NM_006767.4(LZTR1):c.401-2A>C"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2676409",
        "RCV": [
          "RCV003470027"
        ],
        "variationId": 2676409
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.21342297A>C?assembly=hg19",
        "id": "chr22:g.21342297A>C"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.21342297_21342298delinsCG?assembly=hg19",
        "id": "chr22:g.21342297_21342298delinsCG"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.20988008A>C?assembly=hg38",
        "id": "chr22:g.20988008A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1222197005",
        "rs": 1222197005
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-21342297-A-C?dataset=gnomad_r2_1",
        "id": "22-21342297-A-C",
        "variant": "22:21342297 A / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-20988008-A-C?dataset=gnomad_r4",
        "id": "22-20988008-A-C",
        "variant": "22:20988008 A / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "C",
          "end": 20988008,
          "referenceAllele": "A",
          "start": 20988007
        }
      ],
      "hgvs": [
        "NC_000022.11:g.20988008A>C",
        "CM000684.2:g.20988008A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "C",
          "end": 21342297,
          "referenceAllele": "A",
          "start": 21342296
        }
      ],
      "hgvs": [
        "NC_000022.10:g.21342297A>C",
        "CM000684.1:g.21342297A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "C",
          "end": 19672297,
          "referenceAllele": "A",
          "start": 19672296
        }
      ],
      "hgvs": [
        "NC_000022.9:g.19672297A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 10740,
          "referenceAllele": "A",
          "start": 10739
        }
      ],
      "hgvs": [
        "NG_034193.1:g.10740A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005795"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 482,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 482,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000700578.1:c.401-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515073.1:n.401-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911326"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 231,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 231,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000642151.1:c.232-2A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766587"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 306,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 306,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000644435.1:c.307-2A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767814"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 384,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 384,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000645935.1:c.344-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493479.1:n.344-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768614"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 475,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 475,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000646124.2:c.401-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496779.1:n.401-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768715",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000646124.2:c.401-2A>C"
          },
          "RefSeq": {
            "hgvs": "NM_006767.4:c.401-2A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496779.1:n.401-2A>C"
          },
          "RefSeq": {
            "hgvs": "NP_006758.2:n.401-2A>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 759,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 759,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000215739.12:c.401-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000215739.8:n.401-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247897"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 423,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 423,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000414985.5:c.321-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000397247.1:n.321-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS283774"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 454,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 454,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000443265.5:c.*100-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406466.1:n.*100-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS297259"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 546,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 546,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000479606.5:n.547-2A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319945"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 96,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 96,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000480895.1:n.97-2A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS320933"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 503,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 503,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "NM_006767.3:c.401-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_006758.2:n.401-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031753"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 475,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 475,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "NM_006767.4:c.401-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_006758.2:n.401-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667612",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000646124.2:c.401-2A>C"
          },
          "RefSeq": {
            "hgvs": "NM_006767.4:c.401-2A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496779.1:n.401-2A>C"
          },
          "RefSeq": {
            "hgvs": "NP_006758.2:n.401-2A>C"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}