{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3495075",
  "communityStandardTitle": [
    "NM_006846.4(SPINK5):c.45C>A (p.Cys15Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2106639[alleleid]",
        "alleleId": 2106639,
        "preferredName": "NM_006846.4(SPINK5):c.45C>A (p.Cys15Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2060408",
        "RCV": [
          "RCV003596124"
        ],
        "variationId": 2060408
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/5-147443652-C-A",
        "id": "5-147443652-C-A",
        "variant": "5:147443652 C / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.147443652C>A?assembly=hg19",
        "id": "chr5:g.147443652C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.148064089C>A?assembly=hg38",
        "id": "chr5:g.148064089C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/770450773",
        "rs": 770450773
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-147443652-C-A?dataset=gnomad_r2_1",
        "id": "5-147443652-C-A",
        "variant": "5:147443652 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-148064089-C-A?dataset=gnomad_r4",
        "id": "5-148064089-C-A",
        "variant": "5:148064089 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 148064089,
          "referenceAllele": "C",
          "start": 148064088
        }
      ],
      "hgvs": [
        "NC_000005.10:g.148064089C>A",
        "CM000667.2:g.148064089C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 147443652,
          "referenceAllele": "C",
          "start": 147443651
        }
      ],
      "hgvs": [
        "NC_000005.9:g.147443652C>A",
        "CM000667.1:g.147443652C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 147423845,
          "referenceAllele": "C",
          "start": 147423844
        }
      ],
      "hgvs": [
        "NC_000005.8:g.147423845C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5118,
          "referenceAllele": "C",
          "start": 5117
        }
      ],
      "hgvs": [
        "NG_009633.1:g.5118C>A",
        "LRG_110:g.5118C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001623"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 110,
          "referenceAllele": "C",
          "start": 109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015464",
      "geneNCBI_id": 11005,
      "geneSymbol": "SPINK5",
      "hgvs": [
        "ENST00000256084.8:c.45C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000256084.7:p.Cys15Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741747",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000256084.8:c.45C>A"
          },
          "RefSeq": {
            "hgvs": "NM_006846.4:c.45C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000256084.7:p.Cys15Ter"
          },
          "RefSeq": {
            "hgvs": "NP_006837.2:p.Cys15Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 87,
          "referenceAllele": "C",
          "start": 86
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015464",
      "geneNCBI_id": 11005,
      "geneSymbol": "SPINK5",
      "hgvs": [
        "ENST00000256084.7:c.45C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000256084.7:p.Cys15Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250143"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 118,
          "referenceAllele": "C",
          "start": 117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015464",
      "geneNCBI_id": 11005,
      "geneSymbol": "SPINK5",
      "hgvs": [
        "ENST00000359874.7:c.45C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352936.3:p.Cys15Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264935"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 118,
          "referenceAllele": "C",
          "start": 117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015464",
      "geneNCBI_id": 11005,
      "geneSymbol": "SPINK5",
      "hgvs": [
        "ENST00000398454.5:c.45C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381472.1:p.Cys15Ter",
        "hgvsWellDefined": "ENSP00000381472.1:p.Cys15_Tyr916delinsLeuIleGlnAspAlaAlaSerLysAsnGluAspGlnGluMetCysHisGluPheGlnAlaPheMetLysAsnGlyLysLeuPheCysProGlnAspLysLysPhePheGlnSerLeuAspGlyIleMetPheIleAsnLysCysAlaThrCysLysMetIleLeuGluLysGluAlaLysSerGlnLysArgAlaArgHisLeuAlaArgAlaProLysAlaThrAlaProThrGluLeuAsnCysAspAspPheLysLysGlyGluArgAspGlyAspPheIleCysProAspTyrTyrGluAlaValCysGlyThrAspGlyLysThrTyrAspAsnArgCysAlaLeuCysAlaGluAsnAlaLysThrGlySerGlnIleGlyValLysSerGluGlyGluCysLysSerSerAsnProGluGlnAspValCysSerAlaPheArgProPheValArgAspGlyArgLeuGlyCysThrArgGluAsnAspProValLeuGlyProAspGlyLysThrHisGlyAsnLysCysAlaMetCysAlaGluLeuPheLeuLysGluAlaGluAsnAlaLysArgGluGlyGluThrArgIleArgArgAsnAlaGluLysAspPheCysLysGluTyrGluLysGlnValArgAsnGlyArgLeuPheCysThrArgGluSerAspProValArgGlyProAspGlyArgMetHisGlyAsnLysCysAlaLeuCysAlaGluIlePheLysGlnArgPheSerGluGluAsnSerLysThrAspGlnAsnLeuGlyLysAlaGluGluLysThrLysValLysArgGluIleValLysLeuCysSerGlnTyrGlnAsnGlnAlaLysAsnGlyIleLeuPheCysThrArgGluAsnAspProIleArgGlyProAspGlyLysMetHisGlyAsnLeuCysSerMetCysGlnAlaTyrPheGlnAlaGluAsnGluGluLysLysLysAlaGluAlaArgAlaArgAsnLysArgGluSerGlyLysAlaThrSerTyrAlaGluLeuCysSerGluTyrArgLysLeuValArgAsnGlyLysLeuAlaCysThrArgGluAsnAspProIleGlnGlyProAspGlyLysValHisGlyAsnThrCysSerMetCysGluValPhePheGlnAlaGluGluGluGluLysLysLysLysGluGlyLysSerArgAsnLysArgGlnSerLysSerThrAlaSerPheGluGluLeuCysSerGluTyrArgLysSerArgLysAsnGlyArgLeuPheCysThrArgGluAsnAspProIleGlnGlyProAspGlyLysMetHisGlyAsnThrCysSerMetCysGluAlaPhePheGlnGlnGluGluArgAlaArgAlaLysAlaLysArgGluAlaAlaLysGluIleCysSerGluPheArgAspGlnValArgAsnGlyThrLeuIleCysThrArgGluHisAsnProValArgGlyProAspGlyLysMetHisGlyAsnLysCysAlaMetCysAlaSerValPheLysLeuGluGluGluGluLysLysAsnAspLysGluGluLysGlyLysValGluAlaGluLysValLysArgGluAlaValGlnGluLeuCysSerGluTyrArgHisTyrValArgAsnGlyArgLeuProCysThrArgGluAsnAspProIleGluGlyLeuAspGlyLysIleHisGlyAsnThrCysSerMetCysGluAlaPhePheGlnGlnGluAlaLysGluLysGluArgAlaGluProArgAlaLysValLysArgGluAlaGluLysGluThrCysAspGluPheArgArgLeuLeuGlnAsnGlyLysLeuPheCysThrArgGluAsnAspProValArgGlyProAspGlyLysThrHisGlyAsnLysCysAlaMetCysLysAlaValPheGlnLysGluAsnGluGluArgLysArgLysGluGluGluAspGlnArgAsnAlaAlaGlyHisGlySerSerGlyGlyGlyGlyGlyAsnThrGlnAspGluCysAlaGluTyrArgGluGlnMetLysAsnGlyArgLeuSerCysThrArgGluSerAspProValArgAspAlaAspGlyLysSerTyrAsnAsnGlnCysThrMetCysLysAlaLysLeuGluArgGluAlaGluArgLysAsnGluTyrSerArgSerArgSerAsnGlyThrGlySerGluSerGlyLysAspThrCysAspGluPheArgSerGlnMetLysAsnGlyLysLeuIleCysThrArgGluSerAspProValArgGlyProAspGlyLysThrHisGlyAsnLysCysThrMetCysLysGluLysLeuGluArgGluAlaAlaGluLysLysLysLysGluAspGluAspArgSerAsnThrGlyGluArgSerAsnThrGlyGluArgSerAsnAspLysGluAspLeuCysArgGluPheArgSerMetGlnArgAsnGlyLysLeuIleCysThrArgGluAsnAsnProValArgGlyProTyrGlyLysMetHisIleAsnLysCysAlaMetCysGlnSerIlePheAspArgGluAlaAsnGluArgLysLysLysAspGluGluLysSerSerSerLysProSerAsnAsnAlaLysValIleTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278270"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 110,
          "referenceAllele": "C",
          "start": 109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015464",
      "geneNCBI_id": 11005,
      "geneSymbol": "SPINK5",
      "hgvs": [
        "ENST00000476697.7:c.45C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000427943.1:p.Cys15Ter",
        "hgvsWellDefined": "ENSP00000427943.1:p.Cys15_Thr201delinsLeuIleGlnAspAlaAlaSerLysAsnGluAspGlnGluMetCysHisGluPheGlnAlaPheMetLysAsnGlyLysLeuPheCysProGlnAspLysLysPhePheGlnSerLeuAspGlyIleMetPheIleAsnLysCysAlaThrCysLysMetIleLeuGluLysGluAlaLysSerGlnLysArgAlaArgHisLeuAlaArgAlaProLysAlaThrAlaProThrGluLeuAsnCysAspAspPheLysLysGlyGluArgAspGlyAspPheIleCysProAspTyrTyrGluAlaValCysGlyThrAspGlyLysThrTyrAspAsnArgCysAlaLeuCysAlaGluAsnAlaLysThrGlySerGlnIleGlyValLysSerGluGlyGluCysLysSerSerAsnProGluGlnPheCysGluProValMetValGlyGluGlyGluGlyArgLysAspLeuIleHisValThrLeuValPhePheGlnGluIleGlySerLysLeuMetAlaArgThrValLeuCysLeuSerSerGlyThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS317685"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 106,
          "referenceAllele": "C",
          "start": 105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015464",
      "geneNCBI_id": 11005,
      "geneSymbol": "SPINK5",
      "hgvs": [
        "ENST00000507988.5:n.106C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS339126"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 110,
          "referenceAllele": "C",
          "start": 109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015464",
      "geneNCBI_id": 11005,
      "geneSymbol": "SPINK5",
      "hgvs": [
        "ENST00000508733.5:c.45C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421519.1:p.Cys15Ter",
        "hgvsWellDefined": "ENSP00000421519.1:p.Cys15Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS339685"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 331,
          "referenceAllele": "C",
          "start": 330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015464",
      "geneNCBI_id": 11005,
      "geneSymbol": "SPINK5",
      "hgvs": [
        "ENST00000521206.5:c.45C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000430264.1:p.Cys15Ter",
        "hgvsWellDefined": "ENSP00000430264.1:p.Cys15Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS348077"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 118,
          "referenceAllele": "C",
          "start": 117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015464",
      "geneNCBI_id": 11005,
      "geneSymbol": "SPINK5",
      "hgvs": [
        "NM_001127698.1:c.45C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121170.1:p.Cys15Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011680"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825655044",
      "coordinates": [
        {
          "allele": "A",
          "end": 118,
          "referenceAllele": "C",
          "start": 117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015464",
      "geneNCBI_id": 11005,
      "geneSymbol": "SPINK5",
      "hgvs": [
        "NM_001127699.1:c.45C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121171.1:p.Cys15Ter",
        "hgvsWellDefined": "NP_001121171.1:p.Cys15_Tyr916delinsLeuIleGlnAspAlaAlaSerLysAsnGluAspGlnGluMetCysHisGluPheGlnAlaPheMetLysAsnGlyLysLeuPheCysProGlnAspLysLysPhePheGlnSerLeuAspGlyIleMetPheIleAsnLysCysAlaThrCysLysMetIleLeuGluLysGluAlaLysSerGlnLysArgAlaArgHisLeuAlaArgAlaProLysAlaThrAlaProThrGluLeuAsnCysAspAspPheLysLysGlyGluArgAspGlyAspPheIleCysProAspTyrTyrGluAlaValCysGlyThrAspGlyLysThrTyrAspAsnArgCysAlaLeuCysAlaGluAsnAlaLysThrGlySerGlnIleGlyValLysSerGluGlyGluCysLysSerSerAsnProGluGlnAspValCysSerAlaPheArgProPheValArgAspGlyArgLeuGlyCysThrArgGluAsnAspProValLeuGlyProAspGlyLysThrHisGlyAsnLysCysAlaMetCysAlaGluLeuPheLeuLysGluAlaGluAsnAlaLysArgGluGlyGluThrArgIleArgArgAsnAlaGluLysAspPheCysLysGluTyrGluLysGlnValArgAsnGlyArgLeuPheCysThrArgGluSerAspProValArgGlyProAspGlyArgMetHisGlyAsnLysCysAlaLeuCysAlaGluIlePheLysGlnArgPheSerGluGluAsnSerLysThrAspGlnAsnLeuGlyLysAlaGluGluLysThrLysValLysArgGluIleValLysLeuCysSerGlnTyrGlnAsnGlnAlaLysAsnGlyIleLeuPheCysThrArgGluAsnAspProIleArgGlyProAspGlyLysMetHisGlyAsnLeuCysSerMetCysGlnAlaTyrPheGlnAlaGluAsnGluGluLysLysLysAlaGluAlaArgAlaArgAsnLysArgGluSerGlyLysAlaThrSerTyrAlaGluLeuCysSerGluTyrArgLysLeuValArgAsnGlyLysLeuAlaCysThrArgGluAsnAspProIleGlnGlyProAspGlyLysValHisGlyAsnThrCysSerMetCysGluValPhePheGlnAlaGluGluGluGluLysLysLysLysGluGlyLysSerArgAsnLysArgGlnSerLysSerThrAlaSerPheGluGluLeuCysSerGluTyrArgLysSerArgLysAsnGlyArgLeuPheCysThrArgGluAsnAspProIleGlnGlyProAspGlyLysMetHisGlyAsnThrCysSerMetCysGluAlaPhePheGlnGlnGluGluArgAlaArgAlaLysAlaLysArgGluAlaAlaLysGluIleCysSerGluPheArgAspGlnValArgAsnGlyThrLeuIleCysThrArgGluHisAsnProValArgGlyProAspGlyLysMetHisGlyAsnLysCysAlaMetCysAlaSerValPheLysLeuGluGluGluGluLysLysAsnAspLysGluGluLysGlyLysValGluAlaGluLysValLysArgGluAlaValGlnGluLeuCysSerGluTyrArgHisTyrValArgAsnGlyArgLeuProCysThrArgGluAsnAspProIleGluGlyLeuAspGlyLysIleHisGlyAsnThrCysSerMetCysGluAlaPhePheGlnGlnGluAlaLysGluLysGluArgAlaGluProArgAlaLysValLysArgGluAlaGluLysGluThrCysAspGluPheArgArgLeuLeuGlnAsnGlyLysLeuPheCysThrArgGluAsnAspProValArgGlyProAspGlyLysThrHisGlyAsnLysCysAlaMetCysLysAlaValPheGlnLysGluAsnGluGluArgLysArgLysGluGluGluAspGlnArgAsnAlaAlaGlyHisGlySerSerGlyGlyGlyGlyGlyAsnThrGlnAspGluCysAlaGluTyrArgGluGlnMetLysAsnGlyArgLeuSerCysThrArgGluSerAspProValArgAspAlaAspGlyLysSerTyrAsnAsnGlnCysThrMetCysLysAlaLysLeuGluArgGluAlaGluArgLysAsnGluTyrSerArgSerArgSerAsnGlyThrGlySerGluSerGlyLysAspThrCysAspGluPheArgSerGlnMetLysAsnGlyLysLeuIleCysThrArgGluSerAspProValArgGlyProAspGlyLysThrHisGlyAsnLysCysThrMetCysLysGluLysLeuGluArgGluAlaAlaGluLysLysLysLysGluAspGluAspArgSerAsnThrGlyGluArgSerAsnThrGlyGluArgSerAsnAspLysGluAspLeuCysArgGluPheArgSerMetGlnArgAsnGlyLysLeuIleCysThrArgGluAsnAsnProValArgGlyProTyrGlyLysMetHisIleAsnLysCysAlaMetCysGlnSerIlePheAspArgGluAlaAsnGluArgLysLysLysAspGluGluLysSerSerSerLysProSerAsnAsnAlaLysValIleTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011681"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 118,
          "referenceAllele": "C",
          "start": 117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015464",
      "geneNCBI_id": 11005,
      "geneSymbol": "SPINK5",
      "hgvs": [
        "NM_006846.3:c.45C>A",
        "LRG_110t1:c.45C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_006837.2:p.Cys15Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031827"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 326,
          "referenceAllele": "C",
          "start": 325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015464",
      "geneNCBI_id": 11005,
      "geneSymbol": "SPINK5",
      "hgvs": [
        "XM_011537550.1:c.45C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535852.1:p.Cys15Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104514"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 118,
          "referenceAllele": "C",
          "start": 117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015464",
      "geneNCBI_id": 11005,
      "geneSymbol": "SPINK5",
      "hgvs": [
        "XM_011537551.1:c.-143C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535853.1:n.-143C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104515"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 101,
          "referenceAllele": "C",
          "start": 100
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015464",
      "geneNCBI_id": 11005,
      "geneSymbol": "SPINK5",
      "hgvs": [
        "XM_011537551.2:c.-143C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535853.1:n.-143C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552929"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 110,
          "referenceAllele": "C",
          "start": 109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015464",
      "geneNCBI_id": 11005,
      "geneSymbol": "SPINK5",
      "hgvs": [
        "NM_001127698.2:c.45C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121170.1:p.Cys15Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676932"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825655044",
      "coordinates": [
        {
          "allele": "A",
          "end": 110,
          "referenceAllele": "C",
          "start": 109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015464",
      "geneNCBI_id": 11005,
      "geneSymbol": "SPINK5",
      "hgvs": [
        "NM_001127699.2:c.45C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121171.1:p.Cys15Ter",
        "hgvsWellDefined": "NP_001121171.1:p.Cys15_Tyr916delinsLeuIleGlnAspAlaAlaSerLysAsnGluAspGlnGluMetCysHisGluPheGlnAlaPheMetLysAsnGlyLysLeuPheCysProGlnAspLysLysPhePheGlnSerLeuAspGlyIleMetPheIleAsnLysCysAlaThrCysLysMetIleLeuGluLysGluAlaLysSerGlnLysArgAlaArgHisLeuAlaArgAlaProLysAlaThrAlaProThrGluLeuAsnCysAspAspPheLysLysGlyGluArgAspGlyAspPheIleCysProAspTyrTyrGluAlaValCysGlyThrAspGlyLysThrTyrAspAsnArgCysAlaLeuCysAlaGluAsnAlaLysThrGlySerGlnIleGlyValLysSerGluGlyGluCysLysSerSerAsnProGluGlnAspValCysSerAlaPheArgProPheValArgAspGlyArgLeuGlyCysThrArgGluAsnAspProValLeuGlyProAspGlyLysThrHisGlyAsnLysCysAlaMetCysAlaGluLeuPheLeuLysGluAlaGluAsnAlaLysArgGluGlyGluThrArgIleArgArgAsnAlaGluLysAspPheCysLysGluTyrGluLysGlnValArgAsnGlyArgLeuPheCysThrArgGluSerAspProValArgGlyProAspGlyArgMetHisGlyAsnLysCysAlaLeuCysAlaGluIlePheLysGlnArgPheSerGluGluAsnSerLysThrAspGlnAsnLeuGlyLysAlaGluGluLysThrLysValLysArgGluIleValLysLeuCysSerGlnTyrGlnAsnGlnAlaLysAsnGlyIleLeuPheCysThrArgGluAsnAspProIleArgGlyProAspGlyLysMetHisGlyAsnLeuCysSerMetCysGlnAlaTyrPheGlnAlaGluAsnGluGluLysLysLysAlaGluAlaArgAlaArgAsnLysArgGluSerGlyLysAlaThrSerTyrAlaGluLeuCysSerGluTyrArgLysLeuValArgAsnGlyLysLeuAlaCysThrArgGluAsnAspProIleGlnGlyProAspGlyLysValHisGlyAsnThrCysSerMetCysGluValPhePheGlnAlaGluGluGluGluLysLysLysLysGluGlyLysSerArgAsnLysArgGlnSerLysSerThrAlaSerPheGluGluLeuCysSerGluTyrArgLysSerArgLysAsnGlyArgLeuPheCysThrArgGluAsnAspProIleGlnGlyProAspGlyLysMetHisGlyAsnThrCysSerMetCysGluAlaPhePheGlnGlnGluGluArgAlaArgAlaLysAlaLysArgGluAlaAlaLysGluIleCysSerGluPheArgAspGlnValArgAsnGlyThrLeuIleCysThrArgGluHisAsnProValArgGlyProAspGlyLysMetHisGlyAsnLysCysAlaMetCysAlaSerValPheLysLeuGluGluGluGluLysLysAsnAspLysGluGluLysGlyLysValGluAlaGluLysValLysArgGluAlaValGlnGluLeuCysSerGluTyrArgHisTyrValArgAsnGlyArgLeuProCysThrArgGluAsnAspProIleGluGlyLeuAspGlyLysIleHisGlyAsnThrCysSerMetCysGluAlaPhePheGlnGlnGluAlaLysGluLysGluArgAlaGluProArgAlaLysValLysArgGluAlaGluLysGluThrCysAspGluPheArgArgLeuLeuGlnAsnGlyLysLeuPheCysThrArgGluAsnAspProValArgGlyProAspGlyLysThrHisGlyAsnLysCysAlaMetCysLysAlaValPheGlnLysGluAsnGluGluArgLysArgLysGluGluGluAspGlnArgAsnAlaAlaGlyHisGlySerSerGlyGlyGlyGlyGlyAsnThrGlnAspGluCysAlaGluTyrArgGluGlnMetLysAsnGlyArgLeuSerCysThrArgGluSerAspProValArgAspAlaAspGlyLysSerTyrAsnAsnGlnCysThrMetCysLysAlaLysLeuGluArgGluAlaGluArgLysAsnGluTyrSerArgSerArgSerAsnGlyThrGlySerGluSerGlyLysAspThrCysAspGluPheArgSerGlnMetLysAsnGlyLysLeuIleCysThrArgGluSerAspProValArgGlyProAspGlyLysThrHisGlyAsnLysCysThrMetCysLysGluLysLeuGluArgGluAlaAlaGluLysLysLysLysGluAspGluAspArgSerAsnThrGlyGluArgSerAsnThrGlyGluArgSerAsnAspLysGluAspLeuCysArgGluPheArgSerMetGlnArgAsnGlyLysLeuIleCysThrArgGluAsnAsnProValArgGlyProTyrGlyLysMetHisIleAsnLysCysAlaMetCysGlnSerIlePheAspArgGluAlaAsnGluArgLysLysLysAspGluGluLysSerSerSerLysProSerAsnAsnAlaLysValIleTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676933"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 110,
          "referenceAllele": "C",
          "start": 109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015464",
      "geneNCBI_id": 11005,
      "geneSymbol": "SPINK5",
      "hgvs": [
        "NM_006846.4:c.45C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_006837.2:p.Cys15Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696831",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000256084.8:c.45C>A"
          },
          "RefSeq": {
            "hgvs": "NM_006846.4:c.45C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000256084.7:p.Cys15Ter"
          },
          "RefSeq": {
            "hgvs": "NP_006837.2:p.Cys15Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}