{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3047143755",
  "communityStandardTitle": [
    "NM_017617.5(NOTCH1):c.4847_4848delinsAGCCGCCT (p.Ile1616delinsLysProPro)"
  ],
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "AGGCGGCT",
          "end": 136504844,
          "referenceAllele": "GA",
          "start": 136504842
        }
      ],
      "hgvs": [
        "NC_000009.12:g.136504843_136504844delinsAGGCGGCT",
        "CM000671.2:g.136504843_136504844delinsAGGCGGCT"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "AGGCGGCT",
          "end": 139399296,
          "referenceAllele": "GA",
          "start": 139399294
        }
      ],
      "hgvs": [
        "NC_000009.11:g.139399295_139399296delinsAGGCGGCT",
        "CM000671.1:g.139399295_139399296delinsAGGCGGCT"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "AGGCGGCT",
          "end": 138519117,
          "referenceAllele": "GA",
          "start": 138519115
        }
      ],
      "hgvs": [
        "NC_000009.10:g.138519116_138519117delinsAGGCGGCT"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "AGCCGCCT",
          "end": 45944,
          "referenceAllele": "TC",
          "start": 45942
        }
      ],
      "hgvs": [
        "NG_007458.1:g.45943_45944delinsAGCCGCCT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000584"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "AGCCGCCT",
          "end": 2655,
          "referenceAllele": "TC",
          "start": 2653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "ENST00000645828.1:n.2654_2655delinsAGCCGCCT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768563"
    },
    {
      "coordinates": [
        {
          "allele": "AGCCGCCT",
          "end": 5110,
          "referenceAllele": "TC",
          "start": 5108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "ENST00000651671.1:c.4847_4848delinsAGCCGCCT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498587.1:p.Ile1616delinsLysProPro",
        "hgvsWellDefined": "ENSP00000498587.1:p.Ile1616delinsLysProPro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771797",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000651671.1:c.4847_4848delinsAGCCGCCT"
          },
          "RefSeq": {
            "hgvs": "NM_017617.5:c.4847_4848delinsAGCCGCCT"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498587.1:p.Ile1616delinsLysProPro"
          },
          "RefSeq": {
            "hgvs": "NP_060087.3:p.Ile1616delinsLysProPro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "AGCCGCCT",
          "end": 5110,
          "referenceAllele": "TC",
          "start": 5108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "ENST00000679595.1:c.4847_4848delinsAGCCGCCT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506241.1:p.Ile1616delinsLysProPro",
        "hgvsWellDefined": "ENSP00000506241.1:p.Ile1616delinsLysProPro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779223"
    },
    {
      "coordinates": [
        {
          "allele": "AGCCGCCT",
          "end": 4945,
          "referenceAllele": "TC",
          "start": 4943
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "ENST00000680133.1:c.4733_4734delinsAGCCGCCT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505319.1:p.Ile1578delinsLysProPro",
        "hgvsWellDefined": "ENSP00000505319.1:p.Ile1578delinsLysProPro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779754"
    },
    {
      "coordinates": [
        {
          "allele": "AGCCGCCT",
          "end": 4990,
          "referenceAllele": "TC",
          "start": 4988
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "ENST00000680218.1:c.4727_4728delinsAGCCGCCT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505339.1:p.Ile1576delinsLysProPro",
        "hgvsWellDefined": "ENSP00000505339.1:p.Ile1576delinsLysProPro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779838"
    },
    {
      "coordinates": [
        {
          "allele": "AGCCGCCT",
          "end": 4996,
          "referenceAllele": "TC",
          "start": 4994
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "ENST00000680668.1:c.4733_4734delinsAGCCGCCT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506336.1:p.Ile1578delinsLysProPro",
        "hgvsWellDefined": "ENSP00000506336.1:p.Ile1578delinsLysProPro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780283"
    },
    {
      "coordinates": [
        {
          "allele": "AGCCGCCT",
          "end": 2537,
          "referenceAllele": "TC",
          "start": 2535
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "ENST00000680778.1:c.2444_2445delinsAGCCGCCT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506033.1:p.Ile815delinsLysProPro",
        "hgvsWellDefined": "ENSP00000506033.1:p.Ile815delinsLysProPro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780393"
    },
    {
      "coordinates": [
        {
          "allele": "AGCCGCCT",
          "end": 5078,
          "referenceAllele": "TC",
          "start": 5076
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "ENST00000680924.1:c.*2247_*2248delinsAGCCGCCT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506031.1:n.*2247_*2248delinsAGCCGCCT"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780538"
    },
    {
      "coordinates": [
        {
          "allele": "AGCCGCCT",
          "end": 5191,
          "referenceAllele": "TC",
          "start": 5189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "ENST00000681135.1:c.*2456_*2457delinsAGCCGCCT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506636.1:n.*2456_*2457delinsAGCCGCCT"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780747"
    },
    {
      "coordinates": [
        {
          "allele": "AGCCGCCT",
          "end": 1661,
          "referenceAllele": "TC",
          "start": 1659
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "ENST00000681298.1:n.1660_1661delinsAGCCGCCT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780909"
    },
    {
      "coordinates": [
        {
          "allele": "AGCCGCCT",
          "end": 4508,
          "referenceAllele": "TC",
          "start": 4506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "ENST00000681454.1:c.*4083_*4084delinsAGCCGCCT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505763.1:n.*4083_*4084delinsAGCCGCCT"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781061"
    },
    {
      "coordinates": [
        {
          "allele": "AGCCGCCT",
          "end": 4924,
          "referenceAllele": "TC",
          "start": 4922
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "ENST00000277541.6:c.4847_4848delinsAGCCGCCT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000277541.6:p.Ile1616delinsLysProPro",
        "hgvsWellDefined": "ENSP00000277541.6:p.Ile1616delinsLysProPro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252749"
    },
    {
      "coordinates": [
        {
          "allele": "AGCCGCCT",
          "end": 3,
          "referenceAllele": "TC",
          "start": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "ENST00000494783.1:n.2_3delinsAGCCGCCT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS331629"
    },
    {
      "coordinates": [
        {
          "allele": "AGCCGCCT",
          "end": 4848,
          "referenceAllele": "TC",
          "start": 4846
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "NM_017617.3:c.4847_4848delinsAGCCGCCT"
      ],
      "proteinEffect": {
        "hgvs": "NP_060087.3:p.Ile1616delinsLysProPro",
        "hgvsWellDefined": "NP_060087.3:p.Ile1616delinsLysProPro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035047"
    },
    {
      "coordinates": [
        {
          "allele": "AGCCGCCT",
          "end": 4168,
          "referenceAllele": "TC",
          "start": 4166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "XM_011518717.1:c.4148_4149delinsAGCCGCCT"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517019.1:p.Ile1383delinsLysProPro",
        "hgvsWellDefined": "XP_011517019.1:p.Ile1383delinsLysProPro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085891"
    },
    {
      "coordinates": [
        {
          "allele": "AGCCGCCT",
          "end": 5110,
          "referenceAllele": "TC",
          "start": 5108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "NM_017617.5:c.4847_4848delinsAGCCGCCT"
      ],
      "proteinEffect": {
        "hgvs": "NP_060087.3:p.Ile1616delinsLysProPro",
        "hgvsWellDefined": "NP_060087.3:p.Ile1616delinsLysProPro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525815",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000651671.1:c.4847_4848delinsAGCCGCCT"
          },
          "RefSeq": {
            "hgvs": "NM_017617.5:c.4847_4848delinsAGCCGCCT"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498587.1:p.Ile1616delinsLysProPro"
          },
          "RefSeq": {
            "hgvs": "NP_060087.3:p.Ile1616delinsLysProPro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "AGCCGCCT",
          "end": 4140,
          "referenceAllele": "TC",
          "start": 4138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "XM_011518717.2:c.4124_4125delinsAGCCGCCT"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517019.2:p.Ile1375delinsLysProPro",
        "hgvsWellDefined": "XP_011517019.2:p.Ile1375delinsLysProPro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545044"
    }
  ],
  "type": "nucleotide"
}