{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA645549769",
  "communityStandardTitle": [
    "NM_001114753.3(ENG):c.1054_1055delinsTT (p.Pro352Leu)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4564191",
        "active": true,
        "id": "COSM4564191"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4564192",
        "active": true,
        "id": "COSM4564192"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "AA",
          "end": 127824384,
          "referenceAllele": "GG",
          "start": 127824382
        }
      ],
      "hgvs": [
        "NC_000009.12:g.127824383_127824384delinsAA",
        "CM000671.2:g.127824383_127824384delinsAA"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "AA",
          "end": 130586663,
          "referenceAllele": "GG",
          "start": 130586661
        }
      ],
      "hgvs": [
        "NC_000009.11:g.130586662_130586663delinsAA",
        "CM000671.1:g.130586662_130586663delinsAA"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "AA",
          "end": 129626484,
          "referenceAllele": "GG",
          "start": 129626482
        }
      ],
      "hgvs": [
        "NC_000009.10:g.129626483_129626484delinsAA"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 35386,
          "referenceAllele": "CC",
          "start": 35384
        }
      ],
      "hgvs": [
        "NG_009551.1:g.35385_35386delinsTT",
        "LRG_589:g.35385_35386delinsTT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001605"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 1217,
          "referenceAllele": "CC",
          "start": 1215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
        "ENST00000480266.6:c.508_509delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479015.1:p.Pro170Leu",
        "hgvsWellDefined": "ENSP00000479015.1:p.Pro170Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914135"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 1358,
          "referenceAllele": "CC",
          "start": 1356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
        "ENST00000373203.9:c.1054_1055delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362299.4:p.Pro352Leu",
        "hgvsWellDefined": "ENSP00000362299.4:p.Pro352Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751176",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373203.9:c.1054_1055delinsTT"
          },
          "RefSeq": {
            "hgvs": "NM_001114753.3:c.1054_1055delinsTT"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362299.4:p.Pro352Leu"
          },
          "RefSeq": {
            "hgvs": "NP_001108225.1:p.Pro352Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 1336,
          "referenceAllele": "CC",
          "start": 1334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
        "ENST00000344849.4:c.1054_1055delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000341917.3:p.Pro352Leu",
        "hgvsWellDefined": "ENSP00000341917.3:p.Pro352Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262075"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 1456,
          "referenceAllele": "CC",
          "start": 1454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
        "ENST00000373203.8:c.1054_1055delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362299.4:p.Pro352Leu",
        "hgvsWellDefined": "ENSP00000362299.4:p.Pro352Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269560"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 1213,
          "referenceAllele": "CC",
          "start": 1211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
        "ENST00000480266.5:c.508_509delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479015.1:p.Pro170Leu",
        "hgvsWellDefined": "ENSP00000479015.1:p.Pro170Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS320452"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 23,
          "referenceAllele": "CC",
          "start": 21
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
        "ENST00000486329.1:n.22_23delinsTT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS325158"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825044601",
      "coordinates": [
        {
          "allele": "TT",
          "end": 1473,
          "referenceAllele": "CC",
          "start": 1471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
        "NM_000118.3:c.1054_1055delinsTT",
        "LRG_589t1:c.1054_1055delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "NP_000109.1:p.Pro352Leu",
        "hgvsWellDefined": "NP_000109.1:p.Pro352Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006180"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915976678",
      "coordinates": [
        {
          "allele": "TT",
          "end": 1473,
          "referenceAllele": "CC",
          "start": 1471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
        "NM_001114753.2:c.1054_1055delinsTT",
        "LRG_589t2:c.1054_1055delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001108225.1:p.Pro352Leu",
        "hgvsWellDefined": "NP_001108225.1:p.Pro352Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011346"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826581461",
      "coordinates": [
        {
          "allele": "TT",
          "end": 1213,
          "referenceAllele": "CC",
          "start": 1211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
        "NM_001278138.1:c.508_509delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265067.1:p.Pro170Leu",
        "hgvsWellDefined": "NP_001265067.1:p.Pro170Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021073"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915976678",
      "coordinates": [
        {
          "allele": "TT",
          "end": 1358,
          "referenceAllele": "CC",
          "start": 1356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
        "NM_001114753.3:c.1054_1055delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001108225.1:p.Pro352Leu",
        "hgvsWellDefined": "NP_001108225.1:p.Pro352Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712132",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373203.9:c.1054_1055delinsTT"
          },
          "RefSeq": {
            "hgvs": "NM_001114753.3:c.1054_1055delinsTT"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362299.4:p.Pro352Leu"
          },
          "RefSeq": {
            "hgvs": "NP_001108225.1:p.Pro352Leu"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826581461",
      "coordinates": [
        {
          "allele": "TT",
          "end": 1181,
          "referenceAllele": "CC",
          "start": 1179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
        "NM_001278138.2:c.508_509delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265067.1:p.Pro170Leu",
        "hgvsWellDefined": "NP_001265067.1:p.Pro170Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715455"
    }
  ],
  "type": "nucleotide"
}