{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10621234",
  "communityStandardTitle": [
    "NM_000222.3(KIT):c.*217G>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=298701[alleleid]",
        "alleleId": 298701,
        "preferredName": "NM_000222.3(KIT):c.*217G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/348959",
        "RCV": [
          "RCV000296999",
          "RCV001683390"
        ],
        "variationId": 348959
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.55604940G>A?assembly=hg19",
        "id": "chr4:g.55604940G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.54738774G>A?assembly=hg38",
        "id": "chr4:g.54738774G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/17084733",
        "rs": 17084733
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-55604940-G-A?dataset=gnomad_r2_1",
        "id": "4-55604940-G-A",
        "variant": "4:55604940 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-54738774-G-A?dataset=gnomad_r3",
        "id": "4-54738774-G-A",
        "variant": "4:54738774 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-54738774-G-A?dataset=gnomad_r4",
        "id": "4-54738774-G-A",
        "variant": "4:54738774 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 54738774,
          "referenceAllele": "G",
          "start": 54738773
        }
      ],
      "hgvs": [
        "NC_000004.12:g.54738774G>A",
        "CM000666.2:g.54738774G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 55604940,
          "referenceAllele": "G",
          "start": 55604939
        }
      ],
      "hgvs": [
        "NC_000004.11:g.55604940G>A",
        "CM000666.1:g.55604940G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 55299697,
          "referenceAllele": "G",
          "start": 55299696
        }
      ],
      "hgvs": [
        "NC_000004.10:g.55299697G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 85780,
          "referenceAllele": "G",
          "start": 85779
        }
      ],
      "hgvs": [
        "NG_007456.1:g.85780G>A",
        "LRG_307:g.85780G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000582"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3228,
          "referenceAllele": "G",
          "start": 3227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "ENST00000412167.7:c.*217G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390987.3:n.*217G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824624"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1840,
          "referenceAllele": "G",
          "start": 1839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "ENST00000684818.1:n.1840G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829747"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3226,
          "referenceAllele": "G",
          "start": 3225
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "ENST00000685269.1:n.3226G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829977"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3206,
          "referenceAllele": "G",
          "start": 3205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "ENST00000686011.1:c.*217G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509704.1:n.*217G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830351"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3253,
          "referenceAllele": "G",
          "start": 3252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "ENST00000687109.1:c.*217G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509371.1:n.*217G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830913"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3560,
          "referenceAllele": "G",
          "start": 3559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "ENST00000687208.1:n.3560G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830972"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3081,
          "referenceAllele": "G",
          "start": 3080
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "ENST00000687246.1:c.*217G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509114.1:n.*217G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830998"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3306,
          "referenceAllele": "G",
          "start": 3305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "ENST00000687265.1:n.3306G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831006"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3262,
          "referenceAllele": "G",
          "start": 3261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "ENST00000687295.1:c.*217G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509450.1:n.*217G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831020"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 945,
          "referenceAllele": "G",
          "start": 944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "ENST00000688060.1:n.945G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831418"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3196,
          "referenceAllele": "G",
          "start": 3195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "ENST00000689832.1:c.*217G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509084.1:n.*217G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832391"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3170,
          "referenceAllele": "G",
          "start": 3169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "ENST00000689994.1:c.*217G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509156.1:n.*217G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832482"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3197,
          "referenceAllele": "G",
          "start": 3196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "ENST00000690543.1:c.*217G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508831.1:n.*217G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832753"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3366,
          "referenceAllele": "G",
          "start": 3365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "ENST00000690917.1:n.3366G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832943"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2058,
          "referenceAllele": "G",
          "start": 2057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "ENST00000691361.1:n.2058G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833177"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3237,
          "referenceAllele": "G",
          "start": 3236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "ENST00000692783.1:c.*217G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508733.1:n.*217G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833884"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3245,
          "referenceAllele": "G",
          "start": 3244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "ENST00000692991.1:n.3245G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS834006"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3206,
          "referenceAllele": "G",
          "start": 3205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "ENST00000288135.6:c.*217G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000288135.6:n.*217G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743936",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000288135.6:c.*217G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000222.3:c.*217G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000288135.6:n.*217G>A"
          },
          "RefSeq": {
            "hgvs": "NP_000213.1:n.*217G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3245,
          "referenceAllele": "G",
          "start": 3244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "ENST00000288135.5:c.*217G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000288135.5:n.*217G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253496"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3233,
          "referenceAllele": "G",
          "start": 3232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "ENST00000412167.6:c.*217G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390987.2:n.*217G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282486"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3235,
          "referenceAllele": "G",
          "start": 3234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "NM_000222.2:c.*217G>A",
        "LRG_307t1:c.*217G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000213.1:n.*217G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006286"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3223,
          "referenceAllele": "G",
          "start": 3222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "NM_001093772.1:c.*217G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001087241.1:n.*217G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010514"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3209,
          "referenceAllele": "G",
          "start": 3208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "XM_005265740.1:c.*217G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265797.1:n.*217G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064764"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3206,
          "referenceAllele": "G",
          "start": 3205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "XM_005265741.1:c.*217G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265798.1:n.*217G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064765"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3197,
          "referenceAllele": "G",
          "start": 3196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "XM_005265742.1:c.*217G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265799.1:n.*217G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064766"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3197,
          "referenceAllele": "G",
          "start": 3196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "XM_005265742.3:c.*217G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265799.1:n.*217G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536112"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3203,
          "referenceAllele": "G",
          "start": 3202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "XM_017008178.1:c.*217G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863667.1:n.*217G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562733"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3194,
          "referenceAllele": "G",
          "start": 3193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "XM_017008179.1:c.*217G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863668.1:n.*217G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562734"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3191,
          "referenceAllele": "G",
          "start": 3190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "XM_017008180.1:c.*217G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863669.1:n.*217G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562735"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3206,
          "referenceAllele": "G",
          "start": 3205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "NM_000222.3:c.*217G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000213.1:n.*217G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674751",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000288135.6:c.*217G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000222.3:c.*217G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000288135.6:n.*217G>A"
          },
          "RefSeq": {
            "hgvs": "NP_000213.1:n.*217G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3194,
          "referenceAllele": "G",
          "start": 3193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "NM_001093772.2:c.*217G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001087241.1:n.*217G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711888"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3209,
          "referenceAllele": "G",
          "start": 3208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "NM_001385284.1:c.*217G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001372213.1:n.*217G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723620"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3203,
          "referenceAllele": "G",
          "start": 3202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "NM_001385285.1:c.*217G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001372214.1:n.*217G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723621"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3191,
          "referenceAllele": "G",
          "start": 3190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "NM_001385286.1:c.*217G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001372215.1:n.*217G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723622"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3197,
          "referenceAllele": "G",
          "start": 3196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "NM_001385288.1:c.*217G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001372217.1:n.*217G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723624"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3206,
          "referenceAllele": "G",
          "start": 3205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "NM_001385290.1:c.*217G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001372219.1:n.*217G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723626"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3194,
          "referenceAllele": "G",
          "start": 3193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006342",
      "geneNCBI_id": 3815,
      "geneSymbol": "KIT",
      "hgvs": [
        "NM_001385292.1:c.*217G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001372221.1:n.*217G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723628"
    }
  ],
  "type": "nucleotide"
}