{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA14229941",
  "communityStandardTitle": [
    "NM_001257.5(CDH13):c.366+41823G>T"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.83107646G>T?assembly=hg19",
        "id": "chr16:g.83107646G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.83074041G>T?assembly=hg38",
        "id": "chr16:g.83074041G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/6565113",
        "rs": 6565113
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-83107646-G-T?dataset=gnomad_r2_1",
        "id": "16-83107646-G-T",
        "variant": "16:83107646 G / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-83074041-G-T?dataset=gnomad_r3",
        "id": "16-83074041-G-T",
        "variant": "16:83074041 G / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-83074041-G-T?dataset=gnomad_r4",
        "id": "16-83074041-G-T",
        "variant": "16:83074041 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 83074041,
          "referenceAllele": "G",
          "start": 83074040
        }
      ],
      "hgvs": [
        "NC_000016.10:g.83074041G>T",
        "CM000678.2:g.83074041G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 83107646,
          "referenceAllele": "G",
          "start": 83107645
        }
      ],
      "hgvs": [
        "NC_000016.9:g.83107646G>T",
        "CM000678.1:g.83107646G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 81665147,
          "referenceAllele": "G",
          "start": 81665146
        }
      ],
      "hgvs": [
        "NC_000016.8:g.81665147G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 452248,
          "referenceAllele": "G",
          "start": 452247
        }
      ],
      "hgvs": [
        "NG_052819.1:g.452248G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617190"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 490,
          "endIntronDirection": "+",
          "endIntronOffset": 41823,
          "referenceAllele": "G",
          "start": 490,
          "startIntronDirection": "+",
          "startIntronOffset": 41822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001753",
      "geneNCBI_id": 1012,
      "geneSymbol": "CDH13",
      "hgvs": [
        "ENST00000567109.6:c.366+41823G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479395.1:n.366+41823G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760514",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000567109.6:c.366+41823G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001257.5:c.366+41823G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000479395.1:n.366+41823G>T"
          },
          "RefSeq": {
            "hgvs": "NP_001248.1:n.366+41823G>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 600,
          "endIntronDirection": "+",
          "endIntronOffset": 41823,
          "referenceAllele": "G",
          "start": 600,
          "startIntronDirection": "+",
          "startIntronOffset": 41822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001753",
      "geneNCBI_id": 1012,
      "geneSymbol": "CDH13",
      "hgvs": [
        "ENST00000268613.14:c.507+41823G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000268613.10:n.507+41823G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252085"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 489,
          "endIntronDirection": "+",
          "endIntronOffset": 41823,
          "referenceAllele": "G",
          "start": 489,
          "startIntronDirection": "+",
          "startIntronOffset": 41822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001753",
      "geneNCBI_id": 1012,
      "geneSymbol": "CDH13",
      "hgvs": [
        "ENST00000428848.7:c.366+41823G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394557.3:n.366+41823G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290394"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 489,
          "endIntronDirection": "+",
          "endIntronOffset": 41823,
          "referenceAllele": "G",
          "start": 489,
          "startIntronDirection": "+",
          "startIntronOffset": 41822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001753",
      "geneNCBI_id": 1012,
      "geneSymbol": "CDH13",
      "hgvs": [
        "ENST00000431540.7:c.366+41823G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000408632.3:n.366+41823G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS291667"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 280,
          "endIntronDirection": "-",
          "endIntronOffset": 51343,
          "referenceAllele": "G",
          "start": 280,
          "startIntronDirection": "-",
          "startIntronOffset": 51344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001753",
      "geneNCBI_id": 1012,
      "geneSymbol": "CDH13",
      "hgvs": [
        "ENST00000539548.6:c.158-51344G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442225.2:n.158-51344G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361918"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 489,
          "endIntronDirection": "+",
          "endIntronOffset": 41823,
          "referenceAllele": "G",
          "start": 489,
          "startIntronDirection": "+",
          "startIntronOffset": 41822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001753",
      "geneNCBI_id": 1012,
      "geneSymbol": "CDH13",
      "hgvs": [
        "ENST00000565636.5:c.366+41823G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456491.1:n.366+41823G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS378877"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 330,
          "endIntronDirection": "+",
          "endIntronOffset": 41823,
          "referenceAllele": "G",
          "start": 330,
          "startIntronDirection": "+",
          "startIntronOffset": 41822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001753",
      "geneNCBI_id": 1012,
      "geneSymbol": "CDH13",
      "hgvs": [
        "ENST00000566620.5:c.330+41823G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454435.3:n.330+41823G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379567"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 656,
          "endIntronDirection": "+",
          "endIntronOffset": 41823,
          "referenceAllele": "G",
          "start": 656,
          "startIntronDirection": "+",
          "startIntronOffset": 41822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001753",
      "geneNCBI_id": 1012,
      "geneSymbol": "CDH13",
      "hgvs": [
        "ENST00000567109.5:c.366+41823G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479395.1:n.366+41823G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379894"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 283,
          "endIntronDirection": "+",
          "endIntronOffset": 41823,
          "referenceAllele": "G",
          "start": 283,
          "startIntronDirection": "+",
          "startIntronOffset": 41822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001753",
      "geneNCBI_id": 1012,
      "geneSymbol": "CDH13",
      "hgvs": [
        "ENST00000569454.1:n.283+41823G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS381486"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 327,
          "endIntronDirection": "+",
          "endIntronOffset": 41823,
          "referenceAllele": "G",
          "start": 327,
          "startIntronDirection": "+",
          "startIntronOffset": 41822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001753",
      "geneNCBI_id": 1012,
      "geneSymbol": "CDH13",
      "hgvs": [
        "ENST00000622885.4:c.327+41823G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483719.1:n.327+41823G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405931"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 771,
          "endIntronDirection": "+",
          "endIntronOffset": 41823,
          "referenceAllele": "G",
          "start": 771,
          "startIntronDirection": "+",
          "startIntronOffset": 41822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001753",
      "geneNCBI_id": 1012,
      "geneSymbol": "CDH13",
      "hgvs": [
        "NM_001220488.1:c.507+41823G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001207417.1:n.507+41823G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018021"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 665,
          "endIntronDirection": "+",
          "endIntronOffset": 41823,
          "referenceAllele": "G",
          "start": 665,
          "startIntronDirection": "+",
          "startIntronOffset": 41822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001753",
      "geneNCBI_id": 1012,
      "geneSymbol": "CDH13",
      "hgvs": [
        "NM_001220489.1:c.366+41823G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001207418.1:n.366+41823G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018022"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 456,
          "endIntronDirection": "-",
          "endIntronOffset": 51343,
          "referenceAllele": "G",
          "start": 456,
          "startIntronDirection": "-",
          "startIntronOffset": 51344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001753",
      "geneNCBI_id": 1012,
      "geneSymbol": "CDH13",
      "hgvs": [
        "NM_001220490.1:c.-396-51344G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001207419.1:n.-396-51344G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 665,
          "endIntronDirection": "+",
          "endIntronOffset": 41823,
          "referenceAllele": "G",
          "start": 665,
          "startIntronDirection": "+",
          "startIntronOffset": 41822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001753",
      "geneNCBI_id": 1012,
      "geneSymbol": "CDH13",
      "hgvs": [
        "NM_001220491.1:c.366+41823G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001207420.1:n.366+41823G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018024"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 665,
          "endIntronDirection": "+",
          "endIntronOffset": 41823,
          "referenceAllele": "G",
          "start": 665,
          "startIntronDirection": "+",
          "startIntronOffset": 41822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001753",
      "geneNCBI_id": 1012,
      "geneSymbol": "CDH13",
      "hgvs": [
        "NM_001220492.1:c.366+41823G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001207421.1:n.366+41823G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018025"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 665,
          "endIntronDirection": "+",
          "endIntronOffset": 41823,
          "referenceAllele": "G",
          "start": 665,
          "startIntronDirection": "+",
          "startIntronOffset": 41822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001753",
      "geneNCBI_id": 1012,
      "geneSymbol": "CDH13",
      "hgvs": [
        "NM_001257.4:c.366+41823G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001248.1:n.366+41823G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019531"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 249,
          "endIntronDirection": "+",
          "endIntronOffset": 5553,
          "referenceAllele": "G",
          "start": 249,
          "startIntronDirection": "+",
          "startIntronOffset": 5552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001753",
      "geneNCBI_id": 1012,
      "geneSymbol": "CDH13",
      "hgvs": [
        "XM_011522804.1:c.63+5553G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521106.1:n.63+5553G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089946"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 696,
          "endIntronDirection": "+",
          "endIntronOffset": 41823,
          "referenceAllele": "G",
          "start": 696,
          "startIntronDirection": "+",
          "startIntronOffset": 41822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001753",
      "geneNCBI_id": 1012,
      "geneSymbol": "CDH13",
      "hgvs": [
        "XM_011522805.1:c.507+41823G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521107.1:n.507+41823G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089947"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 275,
          "endIntronDirection": "+",
          "endIntronOffset": 5553,
          "referenceAllele": "G",
          "start": 275,
          "startIntronDirection": "+",
          "startIntronOffset": 5552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001753",
      "geneNCBI_id": 1012,
      "geneSymbol": "CDH13",
      "hgvs": [
        "XM_011522804.3:c.63+5553G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521106.1:n.63+5553G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546757"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 690,
          "endIntronDirection": "+",
          "endIntronOffset": 41823,
          "referenceAllele": "G",
          "start": 690,
          "startIntronDirection": "+",
          "startIntronOffset": 41822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001753",
      "geneNCBI_id": 1012,
      "geneSymbol": "CDH13",
      "hgvs": [
        "XM_017022848.2:c.507+41823G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878337.1:n.507+41823G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573712"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 742,
          "endIntronDirection": "+",
          "endIntronOffset": 41823,
          "referenceAllele": "G",
          "start": 742,
          "startIntronDirection": "+",
          "startIntronOffset": 41822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001753",
      "geneNCBI_id": 1012,
      "geneSymbol": "CDH13",
      "hgvs": [
        "XM_017022849.2:c.507+41823G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878338.1:n.507+41823G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573713"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 490,
          "endIntronDirection": "+",
          "endIntronOffset": 41823,
          "referenceAllele": "G",
          "start": 490,
          "startIntronDirection": "+",
          "startIntronOffset": 41822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001753",
      "geneNCBI_id": 1012,
      "geneSymbol": "CDH13",
      "hgvs": [
        "NM_001257.5:c.366+41823G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001248.1:n.366+41823G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664093",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000567109.6:c.366+41823G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001257.5:c.366+41823G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000479395.1:n.366+41823G>T"
          },
          "RefSeq": {
            "hgvs": "NP_001248.1:n.366+41823G>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 596,
          "endIntronDirection": "+",
          "endIntronOffset": 41823,
          "referenceAllele": "G",
          "start": 596,
          "startIntronDirection": "+",
          "startIntronOffset": 41822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001753",
      "geneNCBI_id": 1012,
      "geneSymbol": "CDH13",
      "hgvs": [
        "NM_001220488.2:c.507+41823G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001207417.1:n.507+41823G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680029"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 490,
          "endIntronDirection": "+",
          "endIntronOffset": 41823,
          "referenceAllele": "G",
          "start": 490,
          "startIntronDirection": "+",
          "startIntronOffset": 41822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001753",
      "geneNCBI_id": 1012,
      "geneSymbol": "CDH13",
      "hgvs": [
        "NM_001220489.2:c.366+41823G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001207418.1:n.366+41823G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680030"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 281,
          "endIntronDirection": "-",
          "endIntronOffset": 51343,
          "referenceAllele": "G",
          "start": 281,
          "startIntronDirection": "-",
          "startIntronOffset": 51344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001753",
      "geneNCBI_id": 1012,
      "geneSymbol": "CDH13",
      "hgvs": [
        "NM_001220490.2:c.-396-51344G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001207419.1:n.-396-51344G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680031"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 490,
          "endIntronDirection": "+",
          "endIntronOffset": 41823,
          "referenceAllele": "G",
          "start": 490,
          "startIntronDirection": "+",
          "startIntronOffset": 41822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001753",
      "geneNCBI_id": 1012,
      "geneSymbol": "CDH13",
      "hgvs": [
        "NM_001220491.2:c.366+41823G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001207420.1:n.366+41823G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680032"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 490,
          "endIntronDirection": "+",
          "endIntronOffset": 41823,
          "referenceAllele": "G",
          "start": 490,
          "startIntronDirection": "+",
          "startIntronOffset": 41822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001753",
      "geneNCBI_id": 1012,
      "geneSymbol": "CDH13",
      "hgvs": [
        "NM_001220492.2:c.366+41823G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001207421.1:n.366+41823G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680033"
    }
  ],
  "type": "nucleotide"
}