{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2580078911",
  "communityStandardTitle": [
    "NM_000370.3(TTPA):c.438_439delinsCGATCACAGATGTGTA (p.Glu146AspfsTer7)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1782758[alleleid]",
        "alleleId": 1782758,
        "preferredName": "NM_000370.3(TTPA):c.438_439delinsCGATCACAGATGTGTA (p.Glu146fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1725231",
        "RCV": [
          "RCV002308290"
        ],
        "variationId": 1725231
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2487147613",
        "rs": 2487147613
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "TACACATCTGTGATCG",
          "end": 63066018,
          "referenceAllele": "CC",
          "start": 63066016
        }
      ],
      "hgvs": [
        "NC_000008.11:g.63066017_63066018delinsTACACATCTGTGATCG",
        "CM000670.2:g.63066017_63066018delinsTACACATCTGTGATCG"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "TACACATCTGTGATCG",
          "end": 63978577,
          "referenceAllele": "CC",
          "start": 63978575
        }
      ],
      "hgvs": [
        "NC_000008.10:g.63978576_63978577delinsTACACATCTGTGATCG",
        "CM000670.1:g.63978576_63978577delinsTACACATCTGTGATCG"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "TACACATCTGTGATCG",
          "end": 64141131,
          "referenceAllele": "CC",
          "start": 64141129
        }
      ],
      "hgvs": [
        "NC_000008.9:g.64141130_64141131delinsTACACATCTGTGATCG"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "CGATCACAGATGTGTA",
          "end": 25037,
          "referenceAllele": "GG",
          "start": 25035
        }
      ],
      "hgvs": [
        "NG_016123.1:g.25036_25037delinsCGATCACAGATGTGTA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002963"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "CGATCACAGATGTGTA",
          "end": 471,
          "referenceAllele": "GG",
          "start": 469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012404",
      "geneNCBI_id": 7274,
      "geneSymbol": "TTPA",
      "hgvs": [
        "ENST00000260116.5:c.438_439delinsCGATCACAGATGTGTA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000260116.4:p.Glu146AspfsTer7",
        "hgvsWellDefined": "ENSP00000260116.4:p.[Glu146_Phe158delinsAsp;Leu160_Ser166del;Ala168_Ser174delinsArgCys;Ala176del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742014",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000260116.5:c.438_439delinsCGATCACAGATGTGTA"
          },
          "RefSeq": {
            "hgvs": "NM_000370.3:c.438_439delinsCGATCACAGATGTGTA"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000260116.4:p.Glu146AspfsTer7"
          },
          "RefSeq": {
            "hgvs": "NP_000361.1:p.Glu146AspfsTer7"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "CGATCACAGATGTGTA",
          "end": 471,
          "referenceAllele": "GG",
          "start": 469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012404",
      "geneNCBI_id": 7274,
      "geneSymbol": "TTPA",
      "hgvs": [
        "ENST00000260116.4:c.438_439delinsCGATCACAGATGTGTA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000260116.4:p.Glu146AspfsTer7",
        "hgvsWellDefined": "ENSP00000260116.4:p.[Glu146_Phe158delinsAsp;Leu160_Ser166del;Ala168_Ser174delinsArgCys;Ala176del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250552"
    },
    {
      "coordinates": [
        {
          "allele": "CGATCACAGATGTGTA",
          "end": 232,
          "endIntronDirection": "-",
          "endIntronOffset": 17413,
          "referenceAllele": "GG",
          "start": 232,
          "startIntronDirection": "-",
          "startIntronOffset": 17415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012404",
      "geneNCBI_id": 7274,
      "geneSymbol": "TTPA",
      "hgvs": [
        "ENST00000521138.1:n.233-17415_233-17414delinsCGATCACAGATGTGTA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS348028"
    },
    {
      "coordinates": [
        {
          "allele": "CGATCACAGATGTGTA",
          "end": 471,
          "referenceAllele": "GG",
          "start": 469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012404",
      "geneNCBI_id": 7274,
      "geneSymbol": "TTPA",
      "hgvs": [
        "NM_000370.3:c.438_439delinsCGATCACAGATGTGTA"
      ],
      "proteinEffect": {
        "hgvs": "NP_000361.1:p.Glu146AspfsTer7",
        "hgvsWellDefined": "NP_000361.1:p.[Glu146_Phe158delinsAsp;Leu160_Ser166del;Ala168_Ser174delinsArgCys;Ala176del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006432",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000260116.5:c.438_439delinsCGATCACAGATGTGTA"
          },
          "RefSeq": {
            "hgvs": "NM_000370.3:c.438_439delinsCGATCACAGATGTGTA"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000260116.4:p.Glu146AspfsTer7"
          },
          "RefSeq": {
            "hgvs": "NP_000361.1:p.Glu146AspfsTer7"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "CGATCACAGATGTGTA",
          "end": 283,
          "endIntronDirection": "-",
          "endIntronOffset": 1700,
          "referenceAllele": "GG",
          "start": 283,
          "startIntronDirection": "-",
          "startIntronOffset": 1702
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012404",
      "geneNCBI_id": 7274,
      "geneSymbol": "TTPA",
      "hgvs": [
        "XM_006716468.2:c.205-1702_205-1701delinsCGATCACAGATGTGTA"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716531.1:n.205-1702_205-1701delinsCGATCACAGATGTGTA"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071696"
    },
    {
      "coordinates": [
        {
          "allele": "CGATCACAGATGTGTA",
          "end": 706,
          "endIntronDirection": "-",
          "endIntronOffset": 1700,
          "referenceAllele": "GG",
          "start": 706,
          "startIntronDirection": "-",
          "startIntronOffset": 1702
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012404",
      "geneNCBI_id": 7274,
      "geneSymbol": "TTPA",
      "hgvs": [
        "XM_006716468.4:c.205-1702_205-1701delinsCGATCACAGATGTGTA"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716531.1:n.205-1702_205-1701delinsCGATCACAGATGTGTA"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539185"
    }
  ],
  "type": "nucleotide"
}