{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA247515339",
  "communityStandardTitle": [
    "NM_004795.4(KL):c.820-17753T>G"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.33610151T>G?assembly=hg19",
        "id": "chr13:g.33610151T>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.33036014T>G?assembly=hg38",
        "id": "chr13:g.33036014T>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/577912",
        "rs": 577912
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-33610151-T-G?dataset=gnomad_r2_1",
        "id": "13-33610151-T-G",
        "variant": "13:33610151 T / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-33036014-T-G?dataset=gnomad_r3",
        "id": "13-33036014-T-G",
        "variant": "13:33036014 T / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-33036014-T-G?dataset=gnomad_r4",
        "id": "13-33036014-T-G",
        "variant": "13:33036014 T / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "G",
          "end": 33036014,
          "referenceAllele": "T",
          "start": 33036013
        }
      ],
      "hgvs": [
        "NC_000013.11:g.33036014T>G",
        "CM000675.2:g.33036014T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "G",
          "end": 33610151,
          "referenceAllele": "T",
          "start": 33610150
        }
      ],
      "hgvs": [
        "NC_000013.10:g.33610151T>G",
        "CM000675.1:g.33610151T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "G",
          "end": 32508151,
          "referenceAllele": "T",
          "start": 32508150
        }
      ],
      "hgvs": [
        "NC_000013.9:g.32508151T>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 24581,
          "referenceAllele": "T",
          "start": 24580
        }
      ],
      "hgvs": [
        "NG_011485.1:g.24581T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001753"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 837,
          "endIntronDirection": "-",
          "endIntronOffset": 17752,
          "referenceAllele": "T",
          "start": 837,
          "startIntronDirection": "-",
          "startIntronOffset": 17753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006344",
      "geneNCBI_id": 9365,
      "geneSymbol": "KL",
      "hgvs": [
        "ENST00000380099.4:c.820-17753T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369442.3:n.820-17753T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752336",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000380099.4:c.820-17753T>G"
          },
          "RefSeq": {
            "hgvs": "NM_004795.4:c.820-17753T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000369442.3:n.820-17753T>G"
          },
          "RefSeq": {
            "hgvs": "NP_004786.2:n.820-17753T>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 827,
          "endIntronDirection": "-",
          "endIntronOffset": 17752,
          "referenceAllele": "T",
          "start": 827,
          "startIntronDirection": "-",
          "startIntronOffset": 17753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006344",
      "geneNCBI_id": 9365,
      "geneSymbol": "KL",
      "hgvs": [
        "ENST00000380099.3:c.820-17753T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369442.3:n.820-17753T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272777"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 827,
          "endIntronDirection": "-",
          "endIntronOffset": 17752,
          "referenceAllele": "T",
          "start": 827,
          "startIntronDirection": "-",
          "startIntronOffset": 17753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006344",
      "geneNCBI_id": 9365,
      "geneSymbol": "KL",
      "hgvs": [
        "ENST00000487852.1:n.828-17753T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS326317"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 827,
          "endIntronDirection": "-",
          "endIntronOffset": 17752,
          "referenceAllele": "T",
          "start": 827,
          "startIntronDirection": "-",
          "startIntronOffset": 17753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006344",
      "geneNCBI_id": 9365,
      "geneSymbol": "KL",
      "hgvs": [
        "NM_004795.3:c.820-17753T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004786.2:n.820-17753T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029942"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 251,
          "endIntronDirection": "-",
          "endIntronOffset": 17752,
          "referenceAllele": "T",
          "start": 251,
          "startIntronDirection": "-",
          "startIntronOffset": 17753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006344",
      "geneNCBI_id": 9365,
      "geneSymbol": "KL",
      "hgvs": [
        "XM_006719895.1:c.-102-17753T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719958.1:n.-102-17753T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073381"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 251,
          "endIntronDirection": "-",
          "endIntronOffset": 17752,
          "referenceAllele": "T",
          "start": 251,
          "startIntronDirection": "-",
          "startIntronOffset": 17753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006344",
      "geneNCBI_id": 9365,
      "geneSymbol": "KL",
      "hgvs": [
        "XM_006719895.2:c.-102-17753T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719958.1:n.-102-17753T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539974"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 837,
          "endIntronDirection": "-",
          "endIntronOffset": 17752,
          "referenceAllele": "T",
          "start": 837,
          "startIntronDirection": "-",
          "startIntronOffset": 17753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006344",
      "geneNCBI_id": 9365,
      "geneSymbol": "KL",
      "hgvs": [
        "NM_004795.4:c.820-17753T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004786.2:n.820-17753T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666660",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000380099.4:c.820-17753T>G"
          },
          "RefSeq": {
            "hgvs": "NM_004795.4:c.820-17753T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000369442.3:n.820-17753T>G"
          },
          "RefSeq": {
            "hgvs": "NP_004786.2:n.820-17753T>G"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}