{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3273088285",
  "communityStandardTitle": [
    "NM_000214.3(JAG1):c.862_864delinsAGC (p.Trp288Ser)"
  ],
  "genomicAlleles": [
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "GCT",
          "end": 10652492,
          "referenceAllele": "CCA",
          "start": 10652489
        }
      ],
      "hgvs": [
        "NC_000020.11:g.10652490_10652492delinsGCT",
        "CM000682.2:g.10652490_10652492delinsGCT"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000068"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "GCT",
          "end": 10633140,
          "referenceAllele": "CCA",
          "start": 10633137
        }
      ],
      "hgvs": [
        "NC_000020.10:g.10633138_10633140delinsGCT",
        "CM000682.1:g.10633138_10633140delinsGCT"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000044"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "GCT",
          "end": 10581140,
          "referenceAllele": "CCA",
          "start": 10581137
        }
      ],
      "hgvs": [
        "NC_000020.9:g.10581138_10581140delinsGCT"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000020"
    },
    {
      "coordinates": [
        {
          "allele": "AGC",
          "end": 26557,
          "referenceAllele": "TGG",
          "start": 26554
        }
      ],
      "hgvs": [
        "NG_007496.1:g.26555_26557delinsAGC"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000618"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "AGC",
          "end": 1333,
          "referenceAllele": "TGG",
          "start": 1330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006188",
      "geneNCBI_id": 182,
      "geneSymbol": "JAG1",
      "hgvs": [
        "ENST00000254958.10:c.862_864delinsAGC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000254958.4:p.Trp288Ser",
        "hgvsWellDefined": "ENSP00000254958.4:p.Trp288Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741694",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000254958.10:c.862_864delinsAGC"
          },
          "RefSeq": {
            "hgvs": "NM_000214.3:c.862_864delinsAGC"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000254958.4:p.Trp288Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000205.1:p.Trp288Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "AGC",
          "end": 233,
          "referenceAllele": "TGG",
          "start": 230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006188",
      "geneNCBI_id": 182,
      "geneSymbol": "JAG1",
      "hgvs": [
        "ENST00000617965.2:n.231_233delinsAGC"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762149"
    },
    {
      "coordinates": [
        {
          "allele": "AGC",
          "end": 1441,
          "referenceAllele": "TGG",
          "start": 1438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006188",
      "geneNCBI_id": 182,
      "geneSymbol": "JAG1",
      "hgvs": [
        "ENST00000254958.9:c.862_864delinsAGC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000254958.4:p.Trp288Ser",
        "hgvsWellDefined": "ENSP00000254958.4:p.Trp288Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250061"
    },
    {
      "coordinates": [
        {
          "allele": "AGC",
          "end": 730,
          "referenceAllele": "TGG",
          "start": 727
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006188",
      "geneNCBI_id": 182,
      "geneSymbol": "JAG1",
      "hgvs": [
        "ENST00000423891.6:n.728_730delinsAGC"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS287986"
    },
    {
      "coordinates": [
        {
          "allele": "AGC",
          "end": 233,
          "referenceAllele": "TGG",
          "start": 230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006188",
      "geneNCBI_id": 182,
      "geneSymbol": "JAG1",
      "hgvs": [
        "ENST00000617965.1:n.231_233delinsAGC"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS403714"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3057451039",
      "coordinates": [
        {
          "allele": "AGC",
          "end": 1380,
          "referenceAllele": "TGG",
          "start": 1377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006188",
      "geneNCBI_id": 182,
      "geneSymbol": "JAG1",
      "hgvs": [
        "NM_000214.2:c.862_864delinsAGC"
      ],
      "proteinEffect": {
        "hgvs": "NP_000205.1:p.Trp288Ser",
        "hgvsWellDefined": "NP_000205.1:p.Trp288Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006278"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3057451039",
      "coordinates": [
        {
          "allele": "AGC",
          "end": 1333,
          "referenceAllele": "TGG",
          "start": 1330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006188",
      "geneNCBI_id": 182,
      "geneSymbol": "JAG1",
      "hgvs": [
        "NM_000214.3:c.862_864delinsAGC"
      ],
      "proteinEffect": {
        "hgvs": "NP_000205.1:p.Trp288Ser",
        "hgvsWellDefined": "NP_000205.1:p.Trp288Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510768",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000254958.10:c.862_864delinsAGC"
          },
          "RefSeq": {
            "hgvs": "NM_000214.3:c.862_864delinsAGC"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000254958.4:p.Trp288Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000205.1:p.Trp288Ser"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}