{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA253359",
  "communityStandardTitle": [
    "NM_022437.3(ABCG8):c.1083G>A (p.Trp361Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=20006[alleleid]",
        "alleleId": 20006,
        "preferredName": "NM_022437.3(ABCG8):c.1083G>A (p.Trp361Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4967",
        "RCV": [
          "RCV000005255",
          "RCV000255446",
          "RCV000993693",
          "RCV002426490",
          "RCV003407277",
          "RCV002504749"
        ],
        "variationId": 4967
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-44099233-G-A",
        "id": "2-44099233-G-A",
        "variant": "2:44099233 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.44099233G>A?assembly=hg19",
        "id": "chr2:g.44099233G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.43872094G>A?assembly=hg38",
        "id": "chr2:g.43872094G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/137852987",
        "rs": 137852987
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-44099233-G-A?dataset=gnomad_r2_1",
        "id": "2-44099233-G-A",
        "variant": "2:44099233 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-43872094-G-A?dataset=gnomad_r3",
        "id": "2-43872094-G-A",
        "variant": "2:43872094 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-43872094-G-A?dataset=gnomad_r4",
        "id": "2-43872094-G-A",
        "variant": "2:43872094 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 43872094,
          "referenceAllele": "G",
          "start": 43872093
        }
      ],
      "hgvs": [
        "NC_000002.12:g.43872094G>A",
        "CM000664.2:g.43872094G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 44099233,
          "referenceAllele": "G",
          "start": 44099232
        }
      ],
      "hgvs": [
        "NC_000002.11:g.44099233G>A",
        "CM000664.1:g.44099233G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 43952737,
          "referenceAllele": "G",
          "start": 43952736
        }
      ],
      "hgvs": [
        "NC_000002.10:g.43952737G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 38131,
          "referenceAllele": "G",
          "start": 38130
        }
      ],
      "hgvs": [
        "NG_008884.1:g.38131G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001279"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 45153,
          "referenceAllele": "G",
          "start": 45152
        }
      ],
      "hgvs": [
        "NG_008884.2:g.45153G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706090"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1166,
          "referenceAllele": "G",
          "start": 1165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "ENST00000272286.4:c.1083G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000272286.2:p.Trp361Ter",
        "hgvsWellDefined": "ENSP00000272286.2:p.Trp361_Trp673delinsLysAlaGluThrLysAspLeuAspGluAspThrCysValGluSerSerValThrProLeuAspThrAsnCysLeuProSerProThrLysMetProGlyAlaValGlnGlnPheThrThrLeuIleArgArgGlnIleSerAsnAspPheArgAspLeuProThrLeuLeuIleHisGlyAlaGluAlaCysLeuMetSerMetThrIleGlyPheLeuTyrPheGlyHisGlySerIleGlnLeuSerPheMetAspThrAlaAlaLeuLeuPheMetIleGlyAlaLeuIleProPheAsnValIleLeuAspValIleSerLysCysTyrSerGluArgAlaMetLeuTyrTyrGluLeuGluAspGlyLeuTyrThrThrGlyProTyrPhePheAlaLysIleLeuGlyGluLeuProGluHisCysAlaTyrIleIleIleTyrGlyMetProThrTyrTrpLeuAlaAsnLeuArgProGlyLeuGlnProPheLeuLeuHisPheLeuLeuValTrpLeuValValPheCysCysArgIleMetAlaLeuAlaAlaAlaAlaLeuLeuProThrPheHisMetAlaSerPhePheSerAsnAlaLeuTyrAsnSerPheTyrLeuAlaGlyGlyPheMetIleAsnLeuSerSerLeuTrpThrValProAlaTrpIleSerLysValSerPheLeuArgTrpCysPheGluGlyLeuMetLysIleGlnPheSerArgArgThrTyrLysMetProLeuGlyAsnLeuThrIleAlaValSerGlyAspLysIleLeuSerValMetGluLeuAspSerTyrProLeuTyrAlaIleTyrLeuIleValIleGlyLeuSerGlyGlyPheMetValLeuTyrTyrValSerLeuArgPheIleLysGlnLysProSerGlnAspTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743232",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000272286.4:c.1083G>A"
          },
          "RefSeq": {
            "hgvs": "NM_022437.3:c.1083G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000272286.2:p.Trp361Ter"
          },
          "RefSeq": {
            "hgvs": "NP_071882.1:p.Trp361Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1740,
          "referenceAllele": "G",
          "start": 1739
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "ENST00000644611.1:c.1095G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495423.1:p.Trp365Ter",
        "hgvsWellDefined": "ENSP00000495423.1:p.Trp365Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767900"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1173,
          "referenceAllele": "G",
          "start": 1172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "ENST00000272286.2:c.1083G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000272286.2:p.Trp361Ter",
        "hgvsWellDefined": "ENSP00000272286.2:p.Trp361_Trp673delinsLysAlaGluThrLysAspLeuAspGluAspThrCysValGluSerSerValThrProLeuAspThrAsnCysLeuProSerProThrLysMetProGlyAlaValGlnGlnPheThrThrLeuIleArgArgGlnIleSerAsnAspPheArgAspLeuProThrLeuLeuIleHisGlyAlaGluAlaCysLeuMetSerMetThrIleGlyPheLeuTyrPheGlyHisGlySerIleGlnLeuSerPheMetAspThrAlaAlaLeuLeuPheMetIleGlyAlaLeuIleProPheAsnValIleLeuAspValIleSerLysCysTyrSerGluArgAlaMetLeuTyrTyrGluLeuGluAspGlyLeuTyrThrThrGlyProTyrPhePheAlaLysIleLeuGlyGluLeuProGluHisCysAlaTyrIleIleIleTyrGlyMetProThrTyrTrpLeuAlaAsnLeuArgProGlyLeuGlnProPheLeuLeuHisPheLeuLeuValTrpLeuValValPheCysCysArgIleMetAlaLeuAlaAlaAlaAlaLeuLeuProThrPheHisMetAlaSerPhePheSerAsnAlaLeuTyrAsnSerPheTyrLeuAlaGlyGlyPheMetIleAsnLeuSerSerLeuTrpThrValProAlaTrpIleSerLysValSerPheLeuArgTrpCysPheGluGlyLeuMetLysIleGlnPheSerArgArgThrTyrLysMetProLeuGlyAsnLeuThrIleAlaValSerGlyAspLysIleLeuSerValMetGluLeuAspSerTyrProLeuTyrAlaIleTyrLeuIleValIleGlyLeuSerGlyGlyPheMetValLeuTyrTyrValSerLeuArgPheIleLysGlnLysProSerGlnAspTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252357"
    },
    {
      "@id": "http://reg.genome.network/allele/PA253360",
      "coordinates": [
        {
          "allele": "A",
          "end": 1173,
          "referenceAllele": "G",
          "start": 1172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "NM_022437.2:c.1083G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_071882.1:p.Trp361Ter",
        "hgvsWellDefined": "NP_071882.1:p.Trp361_Trp673delinsLysAlaGluThrLysAspLeuAspGluAspThrCysValGluSerSerValThrProLeuAspThrAsnCysLeuProSerProThrLysMetProGlyAlaValGlnGlnPheThrThrLeuIleArgArgGlnIleSerAsnAspPheArgAspLeuProThrLeuLeuIleHisGlyAlaGluAlaCysLeuMetSerMetThrIleGlyPheLeuTyrPheGlyHisGlySerIleGlnLeuSerPheMetAspThrAlaAlaLeuLeuPheMetIleGlyAlaLeuIleProPheAsnValIleLeuAspValIleSerLysCysTyrSerGluArgAlaMetLeuTyrTyrGluLeuGluAspGlyLeuTyrThrThrGlyProTyrPhePheAlaLysIleLeuGlyGluLeuProGluHisCysAlaTyrIleIleIleTyrGlyMetProThrTyrTrpLeuAlaAsnLeuArgProGlyLeuGlnProPheLeuLeuHisPheLeuLeuValTrpLeuValValPheCysCysArgIleMetAlaLeuAlaAlaAlaAlaLeuLeuProThrPheHisMetAlaSerPhePheSerAsnAlaLeuTyrAsnSerPheTyrLeuAlaGlyGlyPheMetIleAsnLeuSerSerLeuTrpThrValProAlaTrpIleSerLysValSerPheLeuArgTrpCysPheGluGlyLeuMetLysIleGlnPheSerArgArgThrTyrLysMetProLeuGlyAsnLeuThrIleAlaValSerGlyAspLysIleLeuSerValMetGluLeuAspSerTyrProLeuTyrAlaIleTyrLeuIleValIleGlyLeuSerGlyGlyPheMetValLeuTyrTyrValSerLeuArgPheIleLysGlnLysProSerGlnAspTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037307"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1172,
          "referenceAllele": "G",
          "start": 1171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "XM_005264483.2:c.1083G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264540.1:p.Trp361Ter",
        "hgvsWellDefined": "XP_005264540.1:p.Trp361_Trp672delinsLysAlaGluThrLysAspLeuAspGluAspThrCysValGluSerValThrProLeuAspThrAsnCysLeuProSerProThrLysMetProGlyAlaValGlnGlnPheThrThrLeuIleArgArgGlnIleSerAsnAspPheArgAspLeuProThrLeuLeuIleHisGlyAlaGluAlaCysLeuMetSerMetThrIleGlyPheLeuTyrPheGlyHisGlySerIleGlnLeuSerPheMetAspThrAlaAlaLeuLeuPheMetIleGlyAlaLeuIleProPheAsnValIleLeuAspValIleSerLysCysTyrSerGluArgAlaMetLeuTyrTyrGluLeuGluAspGlyLeuTyrThrThrGlyProTyrPhePheAlaLysIleLeuGlyGluLeuProGluHisCysAlaTyrIleIleIleTyrGlyMetProThrTyrTrpLeuAlaAsnLeuArgProGlyLeuGlnProPheLeuLeuHisPheLeuLeuValTrpLeuValValPheCysCysArgIleMetAlaLeuAlaAlaAlaAlaLeuLeuProThrPheHisMetAlaSerPhePheSerAsnAlaLeuTyrAsnSerPheTyrLeuAlaGlyGlyPheMetIleAsnLeuSerSerLeuTrpThrValProAlaTrpIleSerLysValSerPheLeuArgTrpCysPheGluGlyLeuMetLysIleGlnPheSerArgArgThrTyrLysMetProLeuGlyAsnLeuThrIleAlaValSerGlyAspLysIleLeuSerValMetGluLeuAspSerTyrProLeuTyrAlaIleTyrLeuIleValIleGlyLeuSerGlyGlyPheMetValLeuTyrTyrValSerLeuArgPheIleLysGlnLysProSerGlnAspTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064251"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1585,
          "referenceAllele": "G",
          "start": 1584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "XM_011533029.1:c.1095G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531331.1:p.Trp365Ter",
        "hgvsWellDefined": "XP_011531331.1:p.Trp365_Trp677delinsLysAlaGluThrLysAspLeuAspGluAspThrCysValGluSerSerValThrProLeuAspThrAsnCysLeuProSerProThrLysMetProGlyAlaValGlnGlnPheThrThrLeuIleArgArgGlnIleSerAsnAspPheArgAspLeuProThrLeuLeuIleHisGlyAlaGluAlaCysLeuMetSerMetThrIleGlyPheLeuTyrPheGlyHisGlySerIleGlnLeuSerPheMetAspThrAlaAlaLeuLeuPheMetIleGlyAlaLeuIleProPheAsnValIleLeuAspValIleSerLysCysTyrSerGluArgAlaMetLeuTyrTyrGluLeuGluAspGlyLeuTyrThrThrGlyProTyrPhePheAlaLysIleLeuGlyGluLeuProGluHisCysAlaTyrIleIleIleTyrGlyMetProThrTyrTrpLeuAlaAsnLeuArgProGlyLeuGlnProPheLeuLeuHisPheLeuLeuValTrpLeuValValPheCysCysArgIleMetAlaLeuAlaAlaAlaAlaLeuLeuProThrPheHisMetAlaSerPhePheSerAsnAlaLeuTyrAsnSerPheTyrLeuAlaGlyGlyPheMetIleAsnLeuSerSerLeuTrpThrValProAlaTrpIleSerLysValSerPheLeuArgTrpCysPheGluGlyLeuMetLysIleGlnPheSerArgArgThrTyrLysMetProLeuGlyAsnLeuThrIleAlaValSerGlyAspLysIleLeuSerValMetGluLeuAspSerTyrProLeuTyrAlaIleTyrLeuIleValIleGlyLeuSerGlyGlyPheMetValLeuTyrTyrValSerLeuArgPheIleLysGlnLysProSerGlnAspTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100055"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1586,
          "referenceAllele": "G",
          "start": 1585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "XM_011533030.1:c.1095G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531332.1:p.Trp365Ter",
        "hgvsWellDefined": "XP_011531332.1:p.Trp365_Trp676delinsLysAlaGluThrLysAspLeuAspGluAspThrCysValGluSerValThrProLeuAspThrAsnCysLeuProSerProThrLysMetProGlyAlaValGlnGlnPheThrThrLeuIleArgArgGlnIleSerAsnAspPheArgAspLeuProThrLeuLeuIleHisGlyAlaGluAlaCysLeuMetSerMetThrIleGlyPheLeuTyrPheGlyHisGlySerIleGlnLeuSerPheMetAspThrAlaAlaLeuLeuPheMetIleGlyAlaLeuIleProPheAsnValIleLeuAspValIleSerLysCysTyrSerGluArgAlaMetLeuTyrTyrGluLeuGluAspGlyLeuTyrThrThrGlyProTyrPhePheAlaLysIleLeuGlyGluLeuProGluHisCysAlaTyrIleIleIleTyrGlyMetProThrTyrTrpLeuAlaAsnLeuArgProGlyLeuGlnProPheLeuLeuHisPheLeuLeuValTrpLeuValValPheCysCysArgIleMetAlaLeuAlaAlaAlaAlaLeuLeuProThrPheHisMetAlaSerPhePheSerAsnAlaLeuTyrAsnSerPheTyrLeuAlaGlyGlyPheMetIleAsnLeuSerSerLeuTrpThrValProAlaTrpIleSerLysValSerPheLeuArgTrpCysPheGluGlyLeuMetLysIleGlnPheSerArgArgThrTyrLysMetProLeuGlyAsnLeuThrIleAlaValSerGlyAspLysIleLeuSerValMetGluLeuAspSerTyrProLeuTyrAlaIleTyrLeuIleValIleGlyLeuSerGlyGlyPheMetValLeuTyrTyrValSerLeuArgPheIleLysGlnLysProSerGlnAspTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100056"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2863,
          "referenceAllele": "G",
          "start": 2862
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "XM_011533031.1:c.867G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531333.1:p.Trp289Ter",
        "hgvsWellDefined": "XP_011531333.1:p.Trp289_Trp601delinsLysAlaGluThrLysAspLeuAspGluAspThrCysValGluSerSerValThrProLeuAspThrAsnCysLeuProSerProThrLysMetProGlyAlaValGlnGlnPheThrThrLeuIleArgArgGlnIleSerAsnAspPheArgAspLeuProThrLeuLeuIleHisGlyAlaGluAlaCysLeuMetSerMetThrIleGlyPheLeuTyrPheGlyHisGlySerIleGlnLeuSerPheMetAspThrAlaAlaLeuLeuPheMetIleGlyAlaLeuIleProPheAsnValIleLeuAspValIleSerLysCysTyrSerGluArgAlaMetLeuTyrTyrGluLeuGluAspGlyLeuTyrThrThrGlyProTyrPhePheAlaLysIleLeuGlyGluLeuProGluHisCysAlaTyrIleIleIleTyrGlyMetProThrTyrTrpLeuAlaAsnLeuArgProGlyLeuGlnProPheLeuLeuHisPheLeuLeuValTrpLeuValValPheCysCysArgIleMetAlaLeuAlaAlaAlaAlaLeuLeuProThrPheHisMetAlaSerPhePheSerAsnAlaLeuTyrAsnSerPheTyrLeuAlaGlyGlyPheMetIleAsnLeuSerSerLeuTrpThrValProAlaTrpIleSerLysValSerPheLeuArgTrpCysPheGluGlyLeuMetLysIleGlnPheSerArgArgThrTyrLysMetProLeuGlyAsnLeuThrIleAlaValSerGlyAspLysIleLeuSerValMetGluLeuAspSerTyrProLeuTyrAlaIleTyrLeuIleValIleGlyLeuSerGlyGlyPheMetValLeuTyrTyrValSerLeuArgPheIleLysGlnLysProSerGlnAspTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100057"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1585,
          "referenceAllele": "G",
          "start": 1584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "XR_939707.1:n.1585G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS134403"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828052666",
      "coordinates": [
        {
          "allele": "A",
          "end": 1173,
          "referenceAllele": "G",
          "start": 1172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "NM_001357321.1:c.1083G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001344250.1:p.Trp361Ter",
        "hgvsWellDefined": "NP_001344250.1:p.Trp361_Trp672delinsLysAlaGluThrLysAspLeuAspGluAspThrCysValGluSerValThrProLeuAspThrAsnCysLeuProSerProThrLysMetProGlyAlaValGlnGlnPheThrThrLeuIleArgArgGlnIleSerAsnAspPheArgAspLeuProThrLeuLeuIleHisGlyAlaGluAlaCysLeuMetSerMetThrIleGlyPheLeuTyrPheGlyHisGlySerIleGlnLeuSerPheMetAspThrAlaAlaLeuLeuPheMetIleGlyAlaLeuIleProPheAsnValIleLeuAspValIleSerLysCysTyrSerGluArgAlaMetLeuTyrTyrGluLeuGluAspGlyLeuTyrThrThrGlyProTyrPhePheAlaLysIleLeuGlyGluLeuProGluHisCysAlaTyrIleIleIleTyrGlyMetProThrTyrTrpLeuAlaAsnLeuArgProGlyLeuGlnProPheLeuLeuHisPheLeuLeuValTrpLeuValValPheCysCysArgIleMetAlaLeuAlaAlaAlaAlaLeuLeuProThrPheHisMetAlaSerPhePheSerAsnAlaLeuTyrAsnSerPheTyrLeuAlaGlyGlyPheMetIleAsnLeuSerSerLeuTrpThrValProAlaTrpIleSerLysValSerPheLeuArgTrpCysPheGluGlyLeuMetLysIleGlnPheSerArgArgThrTyrLysMetProLeuGlyAsnLeuThrIleAlaValSerGlyAspLysIleLeuSerValMetGluLeuAspSerTyrProLeuTyrAlaIleTyrLeuIleValIleGlyLeuSerGlyGlyPheMetValLeuTyrTyrValSerLeuArgPheIleLysGlnLysProSerGlnAspTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522932"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1740,
          "referenceAllele": "G",
          "start": 1739
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "XM_011533029.2:c.1095G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531331.1:p.Trp365Ter",
        "hgvsWellDefined": "XP_011531331.1:p.Trp365_Trp677delinsLysAlaGluThrLysAspLeuAspGluAspThrCysValGluSerSerValThrProLeuAspThrAsnCysLeuProSerProThrLysMetProGlyAlaValGlnGlnPheThrThrLeuIleArgArgGlnIleSerAsnAspPheArgAspLeuProThrLeuLeuIleHisGlyAlaGluAlaCysLeuMetSerMetThrIleGlyPheLeuTyrPheGlyHisGlySerIleGlnLeuSerPheMetAspThrAlaAlaLeuLeuPheMetIleGlyAlaLeuIleProPheAsnValIleLeuAspValIleSerLysCysTyrSerGluArgAlaMetLeuTyrTyrGluLeuGluAspGlyLeuTyrThrThrGlyProTyrPhePheAlaLysIleLeuGlyGluLeuProGluHisCysAlaTyrIleIleIleTyrGlyMetProThrTyrTrpLeuAlaAsnLeuArgProGlyLeuGlnProPheLeuLeuHisPheLeuLeuValTrpLeuValValPheCysCysArgIleMetAlaLeuAlaAlaAlaAlaLeuLeuProThrPheHisMetAlaSerPhePheSerAsnAlaLeuTyrAsnSerPheTyrLeuAlaGlyGlyPheMetIleAsnLeuSerSerLeuTrpThrValProAlaTrpIleSerLysValSerPheLeuArgTrpCysPheGluGlyLeuMetLysIleGlnPheSerArgArgThrTyrLysMetProLeuGlyAsnLeuThrIleAlaValSerGlyAspLysIleLeuSerValMetGluLeuAspSerTyrProLeuTyrAlaIleTyrLeuIleValIleGlyLeuSerGlyGlyPheMetValLeuTyrTyrValSerLeuArgPheIleLysGlnLysProSerGlnAspTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551083"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1585,
          "referenceAllele": "G",
          "start": 1584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "XM_011533030.2:c.1095G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531332.1:p.Trp365Ter",
        "hgvsWellDefined": "XP_011531332.1:p.Trp365_Trp676delinsLysAlaGluThrLysAspLeuAspGluAspThrCysValGluSerValThrProLeuAspThrAsnCysLeuProSerProThrLysMetProGlyAlaValGlnGlnPheThrThrLeuIleArgArgGlnIleSerAsnAspPheArgAspLeuProThrLeuLeuIleHisGlyAlaGluAlaCysLeuMetSerMetThrIleGlyPheLeuTyrPheGlyHisGlySerIleGlnLeuSerPheMetAspThrAlaAlaLeuLeuPheMetIleGlyAlaLeuIleProPheAsnValIleLeuAspValIleSerLysCysTyrSerGluArgAlaMetLeuTyrTyrGluLeuGluAspGlyLeuTyrThrThrGlyProTyrPhePheAlaLysIleLeuGlyGluLeuProGluHisCysAlaTyrIleIleIleTyrGlyMetProThrTyrTrpLeuAlaAsnLeuArgProGlyLeuGlnProPheLeuLeuHisPheLeuLeuValTrpLeuValValPheCysCysArgIleMetAlaLeuAlaAlaAlaAlaLeuLeuProThrPheHisMetAlaSerPhePheSerAsnAlaLeuTyrAsnSerPheTyrLeuAlaGlyGlyPheMetIleAsnLeuSerSerLeuTrpThrValProAlaTrpIleSerLysValSerPheLeuArgTrpCysPheGluGlyLeuMetLysIleGlnPheSerArgArgThrTyrLysMetProLeuGlyAsnLeuThrIleAlaValSerGlyAspLysIleLeuSerValMetGluLeuAspSerTyrProLeuTyrAlaIleTyrLeuIleValIleGlyLeuSerGlyGlyPheMetValLeuTyrTyrValSerLeuArgPheIleLysGlnLysProSerGlnAspTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551084"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1599,
          "referenceAllele": "G",
          "start": 1598
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "XR_001738891.1:n.1599G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589327"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1599,
          "referenceAllele": "G",
          "start": 1598
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "XR_939707.2:n.1599G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS612370"
    },
    {
      "@id": "http://reg.genome.network/allele/PA253360",
      "coordinates": [
        {
          "allele": "A",
          "end": 1166,
          "referenceAllele": "G",
          "start": 1165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "NM_022437.3:c.1083G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_071882.1:p.Trp361Ter",
        "hgvsWellDefined": "NP_071882.1:p.Trp361_Trp673delinsLysAlaGluThrLysAspLeuAspGluAspThrCysValGluSerSerValThrProLeuAspThrAsnCysLeuProSerProThrLysMetProGlyAlaValGlnGlnPheThrThrLeuIleArgArgGlnIleSerAsnAspPheArgAspLeuProThrLeuLeuIleHisGlyAlaGluAlaCysLeuMetSerMetThrIleGlyPheLeuTyrPheGlyHisGlySerIleGlnLeuSerPheMetAspThrAlaAlaLeuLeuPheMetIleGlyAlaLeuIleProPheAsnValIleLeuAspValIleSerLysCysTyrSerGluArgAlaMetLeuTyrTyrGluLeuGluAspGlyLeuTyrThrThrGlyProTyrPhePheAlaLysIleLeuGlyGluLeuProGluHisCysAlaTyrIleIleIleTyrGlyMetProThrTyrTrpLeuAlaAsnLeuArgProGlyLeuGlnProPheLeuLeuHisPheLeuLeuValTrpLeuValValPheCysCysArgIleMetAlaLeuAlaAlaAlaAlaLeuLeuProThrPheHisMetAlaSerPhePheSerAsnAlaLeuTyrAsnSerPheTyrLeuAlaGlyGlyPheMetIleAsnLeuSerSerLeuTrpThrValProAlaTrpIleSerLysValSerPheLeuArgTrpCysPheGluGlyLeuMetLysIleGlnPheSerArgArgThrTyrLysMetProLeuGlyAsnLeuThrIleAlaValSerGlyAspLysIleLeuSerValMetGluLeuAspSerTyrProLeuTyrAlaIleTyrLeuIleValIleGlyLeuSerGlyGlyPheMetValLeuTyrTyrValSerLeuArgPheIleLysGlnLysProSerGlnAspTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670434",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000272286.4:c.1083G>A"
          },
          "RefSeq": {
            "hgvs": "NM_022437.3:c.1083G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000272286.2:p.Trp361Ter"
          },
          "RefSeq": {
            "hgvs": "NP_071882.1:p.Trp361Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828052666",
      "coordinates": [
        {
          "allele": "A",
          "end": 1166,
          "referenceAllele": "G",
          "start": 1165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "NM_001357321.2:c.1083G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001344250.1:p.Trp361Ter",
        "hgvsWellDefined": "NP_001344250.1:p.Trp361_Trp672delinsLysAlaGluThrLysAspLeuAspGluAspThrCysValGluSerValThrProLeuAspThrAsnCysLeuProSerProThrLysMetProGlyAlaValGlnGlnPheThrThrLeuIleArgArgGlnIleSerAsnAspPheArgAspLeuProThrLeuLeuIleHisGlyAlaGluAlaCysLeuMetSerMetThrIleGlyPheLeuTyrPheGlyHisGlySerIleGlnLeuSerPheMetAspThrAlaAlaLeuLeuPheMetIleGlyAlaLeuIleProPheAsnValIleLeuAspValIleSerLysCysTyrSerGluArgAlaMetLeuTyrTyrGluLeuGluAspGlyLeuTyrThrThrGlyProTyrPhePheAlaLysIleLeuGlyGluLeuProGluHisCysAlaTyrIleIleIleTyrGlyMetProThrTyrTrpLeuAlaAsnLeuArgProGlyLeuGlnProPheLeuLeuHisPheLeuLeuValTrpLeuValValPheCysCysArgIleMetAlaLeuAlaAlaAlaAlaLeuLeuProThrPheHisMetAlaSerPhePheSerAsnAlaLeuTyrAsnSerPheTyrLeuAlaGlyGlyPheMetIleAsnLeuSerSerLeuTrpThrValProAlaTrpIleSerLysValSerPheLeuArgTrpCysPheGluGlyLeuMetLysIleGlnPheSerArgArgThrTyrLysMetProLeuGlyAsnLeuThrIleAlaValSerGlyAspLysIleLeuSerValMetGluLeuAspSerTyrProLeuTyrAlaIleTyrLeuIleValIleGlyLeuSerGlyGlyPheMetValLeuTyrTyrValSerLeuArgPheIleLysGlnLysProSerGlnAspTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690462"
    }
  ],
  "type": "nucleotide"
}