{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2254827805",
  "communityStandardTitle": [
    "NM_014030.4(GIT1):c.2074-43T="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/550818",
        "rs": 550818
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2508478367",
        "rs": 2508478367
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 29574957,
          "referenceAllele": "A",
          "start": 29574956
        }
      ],
      "hgvs": [
        "NC_000017.11:g.29574957A=",
        "CM000679.2:g.29574957A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 27901975,
          "referenceAllele": "A",
          "start": 27901974
        }
      ],
      "hgvs": [
        "NC_000017.10:g.27901975A=",
        "CM000679.1:g.27901975A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 24926101,
          "referenceAllele": "A",
          "start": 24926100
        }
      ],
      "hgvs": [
        "NC_000017.9:g.24926101A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2343,
          "endIntronDirection": "-",
          "endIntronOffset": 42,
          "referenceAllele": "T",
          "start": 2343,
          "startIntronDirection": "-",
          "startIntronOffset": 43
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004272",
      "geneNCBI_id": 28964,
      "geneSymbol": "GIT1",
      "hgvs": [
        "ENST00000225394.8:c.2074-43T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000225394.3:n.2074-43T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740651",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000225394.8:c.2074-43T="
          },
          "RefSeq": {
            "hgvs": "NM_014030.4:c.2074-43T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000225394.3:n.2074-43T="
          },
          "RefSeq": {
            "hgvs": "NP_054749.2:n.2074-43T="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2322,
          "endIntronDirection": "-",
          "endIntronOffset": 42,
          "referenceAllele": "T",
          "start": 2322,
          "startIntronDirection": "-",
          "startIntronOffset": 43
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004272",
      "geneNCBI_id": 28964,
      "geneSymbol": "GIT1",
      "hgvs": [
        "ENST00000225394.7:c.2074-43T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000225394.3:n.2074-43T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248489"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2271,
          "endIntronDirection": "-",
          "endIntronOffset": 42,
          "referenceAllele": "T",
          "start": 2271,
          "startIntronDirection": "-",
          "startIntronOffset": 43
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004272",
      "geneNCBI_id": 28964,
      "geneSymbol": "GIT1",
      "hgvs": [
        "ENST00000394869.7:c.2101-43T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378338.3:n.2101-43T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276392"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2022,
          "endIntronDirection": "-",
          "endIntronOffset": 42,
          "referenceAllele": "T",
          "start": 2022,
          "startIntronDirection": "-",
          "startIntronOffset": 43
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004272",
      "geneNCBI_id": 28964,
      "geneSymbol": "GIT1",
      "hgvs": [
        "ENST00000473217.5:n.2023-43T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS315021"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 516,
          "endIntronDirection": "-",
          "endIntronOffset": 42,
          "referenceAllele": "T",
          "start": 516,
          "startIntronDirection": "-",
          "startIntronOffset": 43
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004272",
      "geneNCBI_id": 28964,
      "geneSymbol": "GIT1",
      "hgvs": [
        "ENST00000578670.5:c.517-43T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS385479"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2292,
          "referenceAllele": "T",
          "start": 2291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004272",
      "geneNCBI_id": 28964,
      "geneSymbol": "GIT1",
      "hgvs": [
        "ENST00000579937.5:c.2078T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000464388.1:p.Val693="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS386075"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2084,
          "endIntronDirection": "-",
          "endIntronOffset": 42,
          "referenceAllele": "T",
          "start": 2084,
          "startIntronDirection": "-",
          "startIntronOffset": 43
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004272",
      "geneNCBI_id": 28964,
      "geneSymbol": "GIT1",
      "hgvs": [
        "ENST00000581348.5:c.2032-43T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000462775.1:n.2032-43T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS386747"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2314,
          "endIntronDirection": "-",
          "endIntronOffset": 42,
          "referenceAllele": "T",
          "start": 2314,
          "startIntronDirection": "-",
          "startIntronOffset": 43
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004272",
      "geneNCBI_id": 28964,
      "geneSymbol": "GIT1",
      "hgvs": [
        "NM_001085454.1:c.2101-43T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001078923.1:n.2101-43T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010469"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2287,
          "endIntronDirection": "-",
          "endIntronOffset": 42,
          "referenceAllele": "T",
          "start": 2287,
          "startIntronDirection": "-",
          "startIntronOffset": 43
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004272",
      "geneNCBI_id": 28964,
      "geneSymbol": "GIT1",
      "hgvs": [
        "NM_014030.3:c.2074-43T="
      ],
      "proteinEffect": {
        "hgvs": "NP_054749.2:n.2074-43T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032884"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2155,
          "endIntronDirection": "-",
          "endIntronOffset": 21,
          "referenceAllele": "T",
          "start": 2155,
          "startIntronDirection": "-",
          "startIntronOffset": 22
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004272",
      "geneNCBI_id": 28964,
      "geneSymbol": "GIT1",
      "hgvs": [
        "XM_011524684.1:c.2101-22T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011522986.1:n.2101-22T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091805"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2128,
          "endIntronDirection": "-",
          "endIntronOffset": 21,
          "referenceAllele": "T",
          "start": 2128,
          "startIntronDirection": "-",
          "startIntronOffset": 22
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004272",
      "geneNCBI_id": 28964,
      "geneSymbol": "GIT1",
      "hgvs": [
        "XM_011524685.1:c.2074-22T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011522987.1:n.2074-22T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091806"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1479,
          "endIntronDirection": "+",
          "endIntronOffset": 2260,
          "referenceAllele": "A",
          "start": 1479,
          "startIntronDirection": "+",
          "startIntronOffset": 2259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025102",
      "geneNCBI_id": 90313,
      "geneSymbol": "TP53I13",
      "hgvs": [
        "XM_011525442.1:c.994+2260A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011523744.1:n.994+2260A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092561"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1500,
          "endIntronDirection": "+",
          "endIntronOffset": 2260,
          "referenceAllele": "A",
          "start": 1500,
          "startIntronDirection": "+",
          "startIntronOffset": 2259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025102",
      "geneNCBI_id": 90313,
      "geneSymbol": "TP53I13",
      "hgvs": [
        "XM_011525443.1:c.994+2260A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011523745.1:n.994+2260A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092562"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1831,
          "endIntronDirection": "+",
          "endIntronOffset": 2260,
          "referenceAllele": "A",
          "start": 1831,
          "startIntronDirection": "+",
          "startIntronOffset": 2259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025102",
      "geneNCBI_id": 90313,
      "geneSymbol": "TP53I13",
      "hgvs": [
        "XM_011525444.1:c.994+2260A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011523746.1:n.994+2260A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092563"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1358,
          "endIntronDirection": "+",
          "endIntronOffset": 2260,
          "referenceAllele": "A",
          "start": 1358,
          "startIntronDirection": "+",
          "startIntronOffset": 2259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025102",
      "geneNCBI_id": 90313,
      "geneSymbol": "TP53I13",
      "hgvs": [
        "XM_011525445.1:c.994+2260A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011523747.1:n.994+2260A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092564"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1439,
          "endIntronDirection": "+",
          "endIntronOffset": 2260,
          "referenceAllele": "A",
          "start": 1439,
          "startIntronDirection": "+",
          "startIntronOffset": 2259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025102",
      "geneNCBI_id": 90313,
      "geneSymbol": "TP53I13",
      "hgvs": [
        "XM_011525446.1:c.994+2260A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011523748.1:n.994+2260A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092565"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1393,
          "endIntronDirection": "+",
          "endIntronOffset": 2260,
          "referenceAllele": "A",
          "start": 1393,
          "startIntronDirection": "+",
          "startIntronOffset": 2259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025102",
      "geneNCBI_id": 90313,
      "geneSymbol": "TP53I13",
      "hgvs": [
        "XM_011525447.1:c.994+2260A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011523749.1:n.994+2260A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092566"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1129,
          "endIntronDirection": "+",
          "endIntronOffset": 2260,
          "referenceAllele": "A",
          "start": 1129,
          "startIntronDirection": "+",
          "startIntronOffset": 2259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025102",
      "geneNCBI_id": 90313,
      "geneSymbol": "TP53I13",
      "hgvs": [
        "XM_011525448.1:c.922+2260A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011523750.1:n.922+2260A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092567"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1504,
          "endIntronDirection": "+",
          "endIntronOffset": 2260,
          "referenceAllele": "A",
          "start": 1504,
          "startIntronDirection": "+",
          "startIntronOffset": 2259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025102",
      "geneNCBI_id": 90313,
      "geneSymbol": "TP53I13",
      "hgvs": [
        "XM_011525449.1:c.721+2260A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011523751.1:n.721+2260A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092568"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2104,
          "endIntronDirection": "-",
          "endIntronOffset": 21,
          "referenceAllele": "T",
          "start": 2104,
          "startIntronDirection": "-",
          "startIntronOffset": 22
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004272",
      "geneNCBI_id": 28964,
      "geneSymbol": "GIT1",
      "hgvs": [
        "XM_011524684.2:c.2101-22T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011522986.1:n.2101-22T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547556"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2077,
          "endIntronDirection": "-",
          "endIntronOffset": 21,
          "referenceAllele": "T",
          "start": 2077,
          "startIntronDirection": "-",
          "startIntronOffset": 22
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004272",
      "geneNCBI_id": 28964,
      "geneSymbol": "GIT1",
      "hgvs": [
        "XM_011524685.2:c.2074-22T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011522987.1:n.2074-22T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547557"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2211,
          "endIntronDirection": "-",
          "endIntronOffset": 21,
          "referenceAllele": "T",
          "start": 2211,
          "startIntronDirection": "-",
          "startIntronOffset": 22
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004272",
      "geneNCBI_id": 28964,
      "geneSymbol": "GIT1",
      "hgvs": [
        "XM_024450731.1:c.2197-22T="
      ],
      "proteinEffect": {
        "hgvs": "XP_024306499.1:n.2197-22T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584262"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2211,
          "endIntronDirection": "-",
          "endIntronOffset": 42,
          "referenceAllele": "T",
          "start": 2211,
          "startIntronDirection": "-",
          "startIntronOffset": 43
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004272",
      "geneNCBI_id": 28964,
      "geneSymbol": "GIT1",
      "hgvs": [
        "XM_024450732.1:c.2197-43T="
      ],
      "proteinEffect": {
        "hgvs": "XP_024306500.1:n.2197-43T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584263"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2184,
          "endIntronDirection": "-",
          "endIntronOffset": 21,
          "referenceAllele": "T",
          "start": 2184,
          "startIntronDirection": "-",
          "startIntronOffset": 22
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004272",
      "geneNCBI_id": 28964,
      "geneSymbol": "GIT1",
      "hgvs": [
        "XM_024450733.1:c.2170-22T="
      ],
      "proteinEffect": {
        "hgvs": "XP_024306501.1:n.2170-22T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584264"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2184,
          "endIntronDirection": "-",
          "endIntronOffset": 42,
          "referenceAllele": "T",
          "start": 2184,
          "startIntronDirection": "-",
          "startIntronOffset": 43
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004272",
      "geneNCBI_id": 28964,
      "geneSymbol": "GIT1",
      "hgvs": [
        "XM_024450734.1:c.2170-43T="
      ],
      "proteinEffect": {
        "hgvs": "XP_024306502.1:n.2170-43T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584265"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2370,
          "endIntronDirection": "-",
          "endIntronOffset": 42,
          "referenceAllele": "T",
          "start": 2370,
          "startIntronDirection": "-",
          "startIntronOffset": 43
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004272",
      "geneNCBI_id": 28964,
      "geneSymbol": "GIT1",
      "hgvs": [
        "NM_001085454.2:c.2101-43T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001078923.1:n.2101-43T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676380"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2343,
          "endIntronDirection": "-",
          "endIntronOffset": 42,
          "referenceAllele": "T",
          "start": 2343,
          "startIntronDirection": "-",
          "startIntronOffset": 43
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004272",
      "geneNCBI_id": 28964,
      "geneSymbol": "GIT1",
      "hgvs": [
        "NM_014030.4:c.2074-43T="
      ],
      "proteinEffect": {
        "hgvs": "NP_054749.2:n.2074-43T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697174",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000225394.8:c.2074-43T="
          },
          "RefSeq": {
            "hgvs": "NM_014030.4:c.2074-43T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000225394.3:n.2074-43T="
          },
          "RefSeq": {
            "hgvs": "NP_054749.2:n.2074-43T="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}