{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16612414",
  "communityStandardTitle": [
    "NM_001114753.3(ENG):c.321_322delinsTT (p.His108Tyr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=396423[alleleid]",
        "alleleId": 396423,
        "preferredName": "NM_001114753.3(ENG):c.321_322delinsTT (p.His108Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/407139",
        "RCV": [
          "RCV000473361",
          "RCV000600129",
          "RCV002323702",
          "RCV002489031"
        ],
        "variationId": 407139
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1060501425",
        "rs": 1060501425
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "AA",
          "end": 127829726,
          "referenceAllele": "GC",
          "start": 127829724
        }
      ],
      "hgvs": [
        "NC_000009.12:g.127829725_127829726delinsAA",
        "CM000671.2:g.127829725_127829726delinsAA"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "AA",
          "end": 130592005,
          "referenceAllele": "GC",
          "start": 130592003
        }
      ],
      "hgvs": [
        "NC_000009.11:g.130592004_130592005delinsAA",
        "CM000671.1:g.130592004_130592005delinsAA"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "AA",
          "end": 129631826,
          "referenceAllele": "GC",
          "start": 129631824
        }
      ],
      "hgvs": [
        "NC_000009.10:g.129631825_129631826delinsAA"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 30044,
          "referenceAllele": "GC",
          "start": 30042
        }
      ],
      "hgvs": [
        "NG_009551.1:g.30043_30044delinsTT",
        "LRG_589:g.30043_30044delinsTT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001605"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 484,
          "referenceAllele": "GC",
          "start": 482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
        "ENST00000480266.6:c.-226_-225delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479015.1:n.-226_-225delinsTT"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914135"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 625,
          "referenceAllele": "GC",
          "start": 623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
        "ENST00000373203.9:c.321_322delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362299.4:p.His108Tyr",
        "hgvsWellDefined": "ENSP00000362299.4:p.His108Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751176",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373203.9:c.321_322delinsTT"
          },
          "RefSeq": {
            "hgvs": "NM_001114753.3:c.321_322delinsTT"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362299.4:p.His108Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_001108225.1:p.His108Tyr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 603,
          "referenceAllele": "GC",
          "start": 601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
        "ENST00000344849.4:c.321_322delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000341917.3:p.His108Tyr",
        "hgvsWellDefined": "ENSP00000341917.3:p.His108Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262075"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 723,
          "referenceAllele": "GC",
          "start": 721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
        "ENST00000373203.8:c.321_322delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362299.4:p.His108Tyr",
        "hgvsWellDefined": "ENSP00000362299.4:p.His108Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269560"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 80,
          "referenceAllele": "GC",
          "start": 78
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
        "ENST00000462196.1:n.79_80delinsTT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS306511"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 480,
          "referenceAllele": "GC",
          "start": 478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
        "ENST00000480266.5:c.-226_-225delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479015.1:n.-226_-225delinsTT"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS320452"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825043951",
      "coordinates": [
        {
          "allele": "TT",
          "end": 740,
          "referenceAllele": "GC",
          "start": 738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
        "NM_000118.3:c.321_322delinsTT",
        "LRG_589t1:c.321_322delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "NP_000109.1:p.His108Tyr",
        "hgvsWellDefined": "NP_000109.1:p.His108Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006180"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645400245",
      "coordinates": [
        {
          "allele": "TT",
          "end": 740,
          "referenceAllele": "GC",
          "start": 738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
        "NM_001114753.2:c.321_322delinsTT",
        "LRG_589t2:c.321_322delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001108225.1:p.His108Tyr",
        "hgvsWellDefined": "NP_001108225.1:p.His108Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011346"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 480,
          "referenceAllele": "GC",
          "start": 478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
        "NM_001278138.1:c.-226_-225delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265067.1:n.-226_-225delinsTT"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021073"
    },
    {
      "coordinates": [
        {
          "allele": "AA",
          "end": 82,
          "endIntronDirection": "-",
          "endIntronOffset": 2671,
          "referenceAllele": "GC",
          "start": 82,
          "startIntronDirection": "-",
          "startIntronOffset": 2673
        }
      ],
      "hgvs": [
        "XR_001746952.2:n.83-2673_83-2672delinsAA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS595197"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645400245",
      "coordinates": [
        {
          "allele": "TT",
          "end": 625,
          "referenceAllele": "GC",
          "start": 623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
        "NM_001114753.3:c.321_322delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001108225.1:p.His108Tyr",
        "hgvsWellDefined": "NP_001108225.1:p.His108Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712132",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373203.9:c.321_322delinsTT"
          },
          "RefSeq": {
            "hgvs": "NM_001114753.3:c.321_322delinsTT"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362299.4:p.His108Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_001108225.1:p.His108Tyr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 448,
          "referenceAllele": "GC",
          "start": 446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
        "NM_001278138.2:c.-226_-225delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265067.1:n.-226_-225delinsTT"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715455"
    }
  ],
  "type": "nucleotide"
}