{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA351631306",
  "communityStandardTitle": [
    "NM_182760.4(SUMF1):c.903G>A (p.Trp301Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1019823[alleleid]",
        "alleleId": 1019823,
        "preferredName": "NM_182760.4(SUMF1):c.903G>A (p.Trp301Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1409518",
        "RCV": [
          "RCV001939841"
        ],
        "variationId": 1409518
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.4452600C>T?assembly=hg19",
        "id": "chr3:g.4452600C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.4410916C>T?assembly=hg38",
        "id": "chr3:g.4410916C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1274564118",
        "rs": 1274564118
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-4452600-C-T?dataset=gnomad_r2_1",
        "id": "3-4452600-C-T",
        "variant": "3:4452600 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-4410916-C-T?dataset=gnomad_r3",
        "id": "3-4410916-C-T",
        "variant": "3:4410916 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-4410916-C-T?dataset=gnomad_r4",
        "id": "3-4410916-C-T",
        "variant": "3:4410916 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 4410916,
          "referenceAllele": "C",
          "start": 4410915
        }
      ],
      "hgvs": [
        "NC_000003.12:g.4410916C>T",
        "CM000665.2:g.4410916C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 4452600,
          "referenceAllele": "C",
          "start": 4452599
        }
      ],
      "hgvs": [
        "NC_000003.11:g.4452600C>T",
        "CM000665.1:g.4452600C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 4427600,
          "referenceAllele": "C",
          "start": 4427599
        }
      ],
      "hgvs": [
        "NC_000003.10:g.4427600C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 61367,
          "referenceAllele": "G",
          "start": 61366
        }
      ],
      "hgvs": [
        "NG_016225.1:g.61367G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003029"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 61367,
          "referenceAllele": "G",
          "start": 61366
        }
      ],
      "hgvs": [
        "NG_016225.2:g.61367G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673663"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 927,
          "referenceAllele": "G",
          "start": 926
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020376",
      "geneNCBI_id": 285362,
      "geneSymbol": "SUMF1",
      "hgvs": [
        "ENST00000272902.10:c.903G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000272902.5:p.Trp301Ter",
        "hgvsWellDefined": "ENSP00000272902.5:p.Trp301_Asp374delinsThrSerAspTrpTrpThrValHisHisSerValGluGluThrLeuAsnProLysGlyProProSerGlyLysAspArgValLysLysGlyGlySerTyrMetCysHisArgSerTyrCysTyrArgTyrArgCysAlaAlaArgSerGlnAsnThrProAspSerSerAlaSerAsnLeuGlyPheArgCysAlaAlaAspArgLeuProThrMetAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743268",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000272902.10:c.903G>A"
          },
          "RefSeq": {
            "hgvs": "NM_182760.4:c.903G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000272902.5:p.Trp301Ter"
          },
          "RefSeq": {
            "hgvs": "NP_877437.2:p.Trp301Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 939,
          "referenceAllele": "G",
          "start": 938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020376",
      "geneNCBI_id": 285362,
      "geneSymbol": "SUMF1",
      "hgvs": [
        "ENST00000272902.9:c.903G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000272902.5:p.Trp301Ter",
        "hgvsWellDefined": "ENSP00000272902.5:p.Trp301_Asp374delinsThrSerAspTrpTrpThrValHisHisSerValGluGluThrLeuAsnProLysGlyProProSerGlyLysAspArgValLysLysGlyGlySerTyrMetCysHisArgSerTyrCysTyrArgTyrArgCysAlaAlaArgSerGlnAsnThrProAspSerSerAlaSerAsnLeuGlyPheArgCysAlaAlaAspArgLeuProThrMetAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252412"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 847,
          "referenceAllele": "G",
          "start": 846
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020376",
      "geneNCBI_id": 285362,
      "geneSymbol": "SUMF1",
      "hgvs": [
        "ENST00000383843.9:c.828G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000373355.5:p.Trp276Ter",
        "hgvsWellDefined": "ENSP00000373355.5:p.Trp276_Asp349delinsThrSerAspTrpTrpThrValHisHisSerValGluGluThrLeuAsnProLysGlyProProSerGlyLysAspArgValLysLysGlyGlySerTyrMetCysHisArgSerTyrCysTyrArgTyrArgCysAlaAlaArgSerGlnAsnThrProAspSerSerAlaSerAsnLeuGlyPheArgCysAlaAlaAspArgLeuProThrMetAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274053"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 931,
          "referenceAllele": "G",
          "start": 930
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020376",
      "geneNCBI_id": 285362,
      "geneSymbol": "SUMF1",
      "hgvs": [
        "ENST00000405420.2:c.903G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384977.2:p.Trp301Ter",
        "hgvsWellDefined": "ENSP00000384977.2:p.Trp301_Asp354delinsThrSerAspTrpTrpThrValHisHisSerValGluGluThrLeuAsnProSerTyrCysTyrArgTyrArgCysAlaAlaArgSerGlnAsnThrProAspSerSerAlaSerAsnLeuGlyPheArgCysAlaAlaAspArgLeuProThrMetAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280345"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 919,
          "referenceAllele": "G",
          "start": 918
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020376",
      "geneNCBI_id": 285362,
      "geneSymbol": "SUMF1",
      "hgvs": [
        "ENST00000448413.5:c.903G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000404384.1:p.Trp301Ter",
        "hgvsWellDefined": "ENSP00000404384.1:p.Trp301_Asp426delinsThrSerAspTrpTrpThrValHisHisSerValGluGluThrLeuAsnProLysGlyProProSerGlyLysAspArgValLysLysGlyGlySerTyrMetCysHisArgSerGlnGluTyrTyrAspProTyrPheGlnAspValAlaSerGluMetLeuArgArgHisThrAlaSerArgTrpLysAlaPheSerSerLeuGluProCysCysSerIleArgArgHisGlnGlnTyrAlaAlaIleGluArgLeuThrCysGlyLysPheGluLeuArgCysAlaSerLeuArgLysIleAspCysLeuAsnThrAsnIleAlaCysSerTyrSerMetArgGlnAspGlyProArgLeuHisCysValAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299717"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 531,
          "referenceAllele": "G",
          "start": 530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020376",
      "geneNCBI_id": 285362,
      "geneSymbol": "SUMF1",
      "hgvs": [
        "ENST00000458465.6:c.507G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410060.2:p.Trp169Ter",
        "hgvsWellDefined": "ENSP00000410060.2:p.Trp169_Asp242delinsThrSerAspTrpTrpThrValHisHisSerValGluGluThrLeuAsnProLysGlyProProSerGlyLysAspArgValLysLysGlyGlySerTyrMetCysHisArgSerTyrCysTyrArgTyrArgCysAlaAlaArgSerGlnAsnThrProAspSerSerAlaSerAsnLeuGlyPheArgCysAlaAlaAspArgLeuProThrMetAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS304417"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825999848",
      "coordinates": [
        {
          "allele": "A",
          "end": 865,
          "referenceAllele": "G",
          "start": 864
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020376",
      "geneNCBI_id": 285362,
      "geneSymbol": "SUMF1",
      "hgvs": [
        "NM_001164674.1:c.828G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001158146.1:p.Trp276Ter",
        "hgvsWellDefined": "NP_001158146.1:p.Trp276_Asp349delinsThrSerAspTrpTrpThrValHisHisSerValGluGluThrLeuAsnProLysGlyProProSerGlyLysAspArgValLysLysGlyGlySerTyrMetCysHisArgSerTyrCysTyrArgTyrArgCysAlaAlaArgSerGlnAsnThrProAspSerSerAlaSerAsnLeuGlyPheArgCysAlaAlaAspArgLeuProThrMetAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014615"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826000257",
      "coordinates": [
        {
          "allele": "A",
          "end": 940,
          "referenceAllele": "G",
          "start": 939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020376",
      "geneNCBI_id": 285362,
      "geneSymbol": "SUMF1",
      "hgvs": [
        "NM_001164675.1:c.903G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001158147.1:p.Trp301Ter",
        "hgvsWellDefined": "NP_001158147.1:p.Trp301_Asp354delinsThrSerAspTrpTrpThrValHisHisSerValGluGluThrLeuAsnProSerTyrCysTyrArgTyrArgCysAlaAlaArgSerGlnAsnThrProAspSerSerAlaSerAsnLeuGlyPheArgCysAlaAlaAspArgLeuProThrMetAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014616"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573312347",
      "coordinates": [
        {
          "allele": "A",
          "end": 940,
          "referenceAllele": "G",
          "start": 939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020376",
      "geneNCBI_id": 285362,
      "geneSymbol": "SUMF1",
      "hgvs": [
        "NM_182760.3:c.903G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_877437.2:p.Trp301Ter",
        "hgvsWellDefined": "NP_877437.2:p.Trp301_Asp374delinsThrSerAspTrpTrpThrValHisHisSerValGluGluThrLeuAsnProLysGlyProProSerGlyLysAspArgValLysLysGlyGlySerTyrMetCysHisArgSerTyrCysTyrArgTyrArgCysAlaAlaArgSerGlnAsnThrProAspSerSerAlaSerAsnLeuGlyPheArgCysAlaAlaAspArgLeuProThrMetAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044115"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 931,
          "referenceAllele": "G",
          "start": 930
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020376",
      "geneNCBI_id": 285362,
      "geneSymbol": "SUMF1",
      "hgvs": [
        "XM_011533623.1:c.903G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531925.1:p.Trp301Ter",
        "hgvsWellDefined": "XP_011531925.1:p.Trp301_Gln449delinsThrSerAspTrpTrpThrValHisHisSerValGluGluThrLeuAsnProLysGlyProProSerGlyLysAspArgValLysLysGlyGlySerTyrMetCysHisArgSerGlnGluTyrTyrAspProTyrPheGlnAspValAlaSerGluMetLeuArgArgHisThrAlaSerArgTrpLysAlaPheSerSerLeuGluProCysCysSerIleArgArgHisGlnGlnTyrAlaAlaIleGluArgLeuThrCysGlyLysPheGluLeuArgCysAlaIleHisPheSerProPheProThrLeuLeuTyrAlaProGlyGlySerPheCysTrpValSerSerValGlySerLeuValLeuTrpPheGlnLeuCysLeuAspAsnGlyAlaGlyArgGluAlaGluAlaValAspGlnThrAlaGlyGluGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100644"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 931,
          "referenceAllele": "G",
          "start": 930
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020376",
      "geneNCBI_id": 285362,
      "geneSymbol": "SUMF1",
      "hgvs": [
        "XM_011533624.1:c.903G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531926.1:p.Trp301Ter",
        "hgvsWellDefined": "XP_011531926.1:p.Trp301_Ile448delinsThrSerAspTrpTrpThrValHisHisSerValGluGluThrLeuAsnProLysGlyProProSerGlyLysAspArgValLysLysGlyGlySerTyrMetCysHisArgSerGlnGluTyrTyrAspProTyrPheGlnAspValAlaSerGluMetLeuArgArgHisThrAlaSerArgTrpLysAlaPheSerSerLeuGluProCysCysSerIleArgArgHisGlnGlnTyrAlaAlaIleGluArgLeuThrCysGlyLysPheGluLeuArgCysAlaGluAlaGlnArgLeuSerLeuProProCysGlyAlaAsnGlyLeuGlyLysAsnThrSerPheArgMetGluAspPheAsnLeuSerPheLeuPheGlnLeuCysAspPheArgGlnAspIlePheAlaPheTrpThrLeuSerPhePheIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100645"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 931,
          "referenceAllele": "G",
          "start": 930
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020376",
      "geneNCBI_id": 285362,
      "geneSymbol": "SUMF1",
      "hgvs": [
        "XM_011533625.1:c.903G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531927.1:p.Trp301Ter",
        "hgvsWellDefined": "XP_011531927.1:p.Trp301_Gly378delinsThrSerAspTrpTrpThrValHisHisSerValGluGluThrLeuAsnProLysGlyProProSerGlyLysAspArgValLysLysGlyGlySerTyrMetCysHisArgMetLysLysLeuArgLeuTrpGluValAlaLysMetSerLysLeuArgThrIleLeuSerAsnPheHisValGlnArgSerPheHisPheLysIlePheGlyHisSerLeuPheLeuGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100646"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 931,
          "referenceAllele": "G",
          "start": 930
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020376",
      "geneNCBI_id": 285362,
      "geneSymbol": "SUMF1",
      "hgvs": [
        "XM_011533626.1:c.903G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531928.1:p.Trp301Ter",
        "hgvsWellDefined": "XP_011531928.1:p.Trp301_Thr372delinsThrSerAspTrpTrpThrValHisHisSerValGluGluThrLeuAsnProLysGlyProProSerGlyLysAspArgValLysLysGlyGlySerTyrMetCysHisArgGlyArgArgGlyArgArgLeuGlyCysMetGluHisIleHisProLeuGluAsnMetIleLysArgCysIleIleSerSerPheValProGlyThrAsnThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100647"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 927,
          "referenceAllele": "G",
          "start": 926
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020376",
      "geneNCBI_id": 285362,
      "geneSymbol": "SUMF1",
      "hgvs": [
        "XM_011533624.3:c.903G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531926.1:p.Trp301Ter",
        "hgvsWellDefined": "XP_011531926.1:p.Trp301_Ile448delinsThrSerAspTrpTrpThrValHisHisSerValGluGluThrLeuAsnProLysGlyProProSerGlyLysAspArgValLysLysGlyGlySerTyrMetCysHisArgSerGlnGluTyrTyrAspProTyrPheGlnAspValAlaSerGluMetLeuArgArgHisThrAlaSerArgTrpLysAlaPheSerSerLeuGluProCysCysSerIleArgArgHisGlnGlnTyrAlaAlaIleGluArgLeuThrCysGlyLysPheGluLeuArgCysAlaGluAlaGlnArgLeuSerLeuProProCysGlyAlaAsnGlyLeuGlyLysAsnThrSerPheArgMetGluAspPheAsnLeuSerPheLeuPheGlnLeuCysAspPheArgGlnAspIlePheAlaPheTrpThrLeuSerPhePheIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551318"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 927,
          "referenceAllele": "G",
          "start": 926
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020376",
      "geneNCBI_id": 285362,
      "geneSymbol": "SUMF1",
      "hgvs": [
        "XM_011533625.3:c.903G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531927.1:p.Trp301Ter",
        "hgvsWellDefined": "XP_011531927.1:p.Trp301_Gly378delinsThrSerAspTrpTrpThrValHisHisSerValGluGluThrLeuAsnProLysGlyProProSerGlyLysAspArgValLysLysGlyGlySerTyrMetCysHisArgMetLysLysLeuArgLeuTrpGluValAlaLysMetSerLysLeuArgThrIleLeuSerAsnPheHisValGlnArgSerPheHisPheLysIlePheGlyHisSerLeuPheLeuGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551319"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 927,
          "referenceAllele": "G",
          "start": 926
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020376",
      "geneNCBI_id": 285362,
      "geneSymbol": "SUMF1",
      "hgvs": [
        "XM_011533626.3:c.903G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531928.1:p.Trp301Ter",
        "hgvsWellDefined": "XP_011531928.1:p.Trp301_Thr372delinsThrSerAspTrpTrpThrValHisHisSerValGluGluThrLeuAsnProLysGlyProProSerGlyLysAspArgValLysLysGlyGlySerTyrMetCysHisArgGlyArgArgGlyArgArgLeuGlyCysMetGluHisIleHisProLeuGluAsnMetIleLysArgCysIleIleSerSerPheValProGlyThrAsnThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551320"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 927,
          "referenceAllele": "G",
          "start": 926
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020376",
      "geneNCBI_id": 285362,
      "geneSymbol": "SUMF1",
      "hgvs": [
        "XM_017006252.2:c.903G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016861741.1:p.Trp301Ter",
        "hgvsWellDefined": "XP_016861741.1:p.Trp301_Ile428delinsThrSerAspTrpTrpThrValHisHisSerValGluGluThrLeuAsnProSerGlnGluTyrTyrAspProTyrPheGlnAspValAlaSerGluMetLeuArgArgHisThrAlaSerArgTrpLysAlaPheSerSerLeuGluProCysCysSerIleArgArgHisGlnGlnTyrAlaAlaIleGluArgLeuThrCysGlyLysPheGluLeuArgCysAlaGluAlaGlnArgLeuSerLeuProProCysGlyAlaAsnGlyLeuGlyLysAsnThrSerPheArgMetGluAspPheAsnLeuSerPheLeuPheGlnLeuCysAspPheArgGlnAspIlePheAlaPheTrpThrLeuSerPhePheIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561327"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 853,
          "referenceAllele": "G",
          "start": 852
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020376",
      "geneNCBI_id": 285362,
      "geneSymbol": "SUMF1",
      "hgvs": [
        "XM_017006253.1:c.828G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016861742.1:p.Trp276Ter",
        "hgvsWellDefined": "XP_016861742.1:p.Trp276_Ile423delinsThrSerAspTrpTrpThrValHisHisSerValGluGluThrLeuAsnProLysGlyProProSerGlyLysAspArgValLysLysGlyGlySerTyrMetCysHisArgSerGlnGluTyrTyrAspProTyrPheGlnAspValAlaSerGluMetLeuArgArgHisThrAlaSerArgTrpLysAlaPheSerSerLeuGluProCysCysSerIleArgArgHisGlnGlnTyrAlaAlaIleGluArgLeuThrCysGlyLysPheGluLeuArgCysAlaGluAlaGlnArgLeuSerLeuProProCysGlyAlaAsnGlyLeuGlyLysAsnThrSerPheArgMetGluAspPheAsnLeuSerPheLeuPheGlnLeuCysAspPheArgGlnAspIlePheAlaPheTrpThrLeuSerPhePheIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561328"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 927,
          "referenceAllele": "G",
          "start": 926
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020376",
      "geneNCBI_id": 285362,
      "geneSymbol": "SUMF1",
      "hgvs": [
        "XM_017006254.2:c.903G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016861743.1:p.Trp301Ter",
        "hgvsWellDefined": "XP_016861743.1:p.Trp301_Leu402delinsThrSerAspTrpTrpThrValHisHisSerValGluGluThrLeuAsnProLysGlyProProSerGlyLysAspArgValLysLysGlyGlySerTyrMetCysHisArgSerGlnGluTyrTyrAspProTyrPheGlnAspValAlaSerGluMetLeuArgArgHisThrAlaSerArgTrpLysAlaPheSerSerLeuGluProCysCysSerIleArgArgHisGlnGlnTyrAlaAlaIleGluArgLeuThrCysGlyLysPheGluLeuArgCysAlaPheIleAsnCysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561329"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 927,
          "referenceAllele": "G",
          "start": 926
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020376",
      "geneNCBI_id": 285362,
      "geneSymbol": "SUMF1",
      "hgvs": [
        "XM_017006255.2:c.903G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016861744.1:p.Trp301Ter",
        "hgvsWellDefined": "XP_016861744.1:p.Trp301_Gln351delinsThrSerAspTrpTrpThrValHisHisSerValGluGluThrLeuAsnProLysGlyProProSerGlyLysAspArgValLysLysGlyGlySerTyrMetCysHisArgGluAlaValSerTrpAlaValPheTyrSerGlyProGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561330"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573312347",
      "coordinates": [
        {
          "allele": "A",
          "end": 927,
          "referenceAllele": "G",
          "start": 926
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020376",
      "geneNCBI_id": 285362,
      "geneSymbol": "SUMF1",
      "hgvs": [
        "NM_182760.4:c.903G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_877437.2:p.Trp301Ter",
        "hgvsWellDefined": "NP_877437.2:p.Trp301_Asp374delinsThrSerAspTrpTrpThrValHisHisSerValGluGluThrLeuAsnProLysGlyProProSerGlyLysAspArgValLysLysGlyGlySerTyrMetCysHisArgSerTyrCysTyrArgTyrArgCysAlaAlaArgSerGlnAsnThrProAspSerSerAlaSerAsnLeuGlyPheArgCysAlaAlaAspArgLeuProThrMetAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS673021",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000272902.10:c.903G>A"
          },
          "RefSeq": {
            "hgvs": "NM_182760.4:c.903G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000272902.5:p.Trp301Ter"
          },
          "RefSeq": {
            "hgvs": "NP_877437.2:p.Trp301Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825999848",
      "coordinates": [
        {
          "allele": "A",
          "end": 852,
          "referenceAllele": "G",
          "start": 851
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020376",
      "geneNCBI_id": 285362,
      "geneSymbol": "SUMF1",
      "hgvs": [
        "NM_001164674.2:c.828G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001158146.1:p.Trp276Ter",
        "hgvsWellDefined": "NP_001158146.1:p.Trp276_Asp349delinsThrSerAspTrpTrpThrValHisHisSerValGluGluThrLeuAsnProLysGlyProProSerGlyLysAspArgValLysLysGlyGlySerTyrMetCysHisArgSerTyrCysTyrArgTyrArgCysAlaAlaArgSerGlnAsnThrProAspSerSerAlaSerAsnLeuGlyPheArgCysAlaAlaAspArgLeuProThrMetAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713113"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826000257",
      "coordinates": [
        {
          "allele": "A",
          "end": 927,
          "referenceAllele": "G",
          "start": 926
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020376",
      "geneNCBI_id": 285362,
      "geneSymbol": "SUMF1",
      "hgvs": [
        "NM_001164675.2:c.903G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001158147.1:p.Trp301Ter",
        "hgvsWellDefined": "NP_001158147.1:p.Trp301_Asp354delinsThrSerAspTrpTrpThrValHisHisSerValGluGluThrLeuAsnProSerTyrCysTyrArgTyrArgCysAlaAlaArgSerGlnAsnThrProAspSerSerAlaSerAsnLeuGlyPheArgCysAlaAlaAspArgLeuProThrMetAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713114"
    }
  ],
  "type": "nucleotide"
}