{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA386365698",
  "communityStandardTitle": [
    "NM_014840.3(NUAK1):c.1369A>T (p.Lys457Ter)"
  ],
  "externalRecords": {
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      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.106461197T>A?assembly=hg19",
        "id": "chr12:g.106461197T>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.106067419T>A?assembly=hg38",
        "id": "chr12:g.106067419T>A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 106067419,
          "referenceAllele": "T",
          "start": 106067418
        }
      ],
      "hgvs": [
        "NC_000012.12:g.106067419T>A",
        "CM000674.2:g.106067419T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 106461197,
          "referenceAllele": "T",
          "start": 106461196
        }
      ],
      "hgvs": [
        "NC_000012.11:g.106461197T>A",
        "CM000674.1:g.106461197T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 104985327,
          "referenceAllele": "T",
          "start": 104985326
        }
      ],
      "hgvs": [
        "NC_000012.10:g.104985327T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1670,
          "referenceAllele": "A",
          "start": 1669
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014311",
      "geneNCBI_id": 9891,
      "geneSymbol": "NUAK1",
      "hgvs": [
        "ENST00000261402.7:c.1369A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261402.2:p.Lys457Ter",
        "hgvsWellDefined": "ENSP00000261402.2:p.Lys457_Asn661delinsGlnSerAlaThrMetProLysLysGlyIleLeuLysLysThrGlnGlnArgGluSerGlyTyrTyrSerSerProGluArgSerGluSerSerGluLeuLeuAspSerAsnAspValMetGlySerSerIleProSerProSerProProAspProAlaArgValThrSerHisSerLeuSerCysArgArgLysGlyIleLeuLysHisSerSerLysTyrSerAlaGlyThrMetAspProAlaLeuValSerProGluMetProThrLeuGluSerLeuSerGluProGlyValProAlaGluGlyLeuSerArgSerTyrSerArgProSerSerValIleSerAspAspSerValLeuSerSerAspSerPheAspLeuLeuAspLeuGlnGluAsnArgProAlaArgGlnArgIleArgSerCysValSerAlaGluAsnPheLeuGlnIleGlnAspPheGluGlyLeuGlnAsnArgProArgProGlnTyrLeuLysArgTyrArgAsnArgLeuAlaAspSerSerPheSerLeuLeuThrAspMetAspAspValThrGlnValTyrLysGlnAlaLeuGluIleCysSerLysLeuAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742131",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261402.7:c.1369A>T"
          },
          "RefSeq": {
            "hgvs": "NM_014840.3:c.1369A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261402.2:p.Lys457Ter"
          },
          "RefSeq": {
            "hgvs": "NP_055655.1:p.Lys457Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2749,
          "referenceAllele": "A",
          "start": 2748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014311",
      "geneNCBI_id": 9891,
      "geneSymbol": "NUAK1",
      "hgvs": [
        "ENST00000261402.6:c.1369A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261402.2:p.Lys457Ter",
        "hgvsWellDefined": "ENSP00000261402.2:p.Lys457_Asn661delinsGlnSerAlaThrMetProLysLysGlyIleLeuLysLysThrGlnGlnArgGluSerGlyTyrTyrSerSerProGluArgSerGluSerSerGluLeuLeuAspSerAsnAspValMetGlySerSerIleProSerProSerProProAspProAlaArgValThrSerHisSerLeuSerCysArgArgLysGlyIleLeuLysHisSerSerLysTyrSerAlaGlyThrMetAspProAlaLeuValSerProGluMetProThrLeuGluSerLeuSerGluProGlyValProAlaGluGlyLeuSerArgSerTyrSerArgProSerSerValIleSerAspAspSerValLeuSerSerAspSerPheAspLeuLeuAspLeuGlnGluAsnArgProAlaArgGlnArgIleArgSerCysValSerAlaGluAsnPheLeuGlnIleGlnAspPheGluGlyLeuGlnAsnArgProArgProGlnTyrLeuLysArgTyrArgAsnArgLeuAlaAspSerSerPheSerLeuLeuThrAspMetAspAspValThrGlnValTyrLysGlnAlaLeuGluIleCysSerLysLeuAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250735"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2749,
          "referenceAllele": "A",
          "start": 2748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014311",
      "geneNCBI_id": 9891,
      "geneSymbol": "NUAK1",
      "hgvs": [
        "NM_014840.2:c.1369A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_055655.1:p.Lys457Ter",
        "hgvsWellDefined": "NP_055655.1:p.Lys457_Asn661delinsGlnSerAlaThrMetProLysLysGlyIleLeuLysLysThrGlnGlnArgGluSerGlyTyrTyrSerSerProGluArgSerGluSerSerGluLeuLeuAspSerAsnAspValMetGlySerSerIleProSerProSerProProAspProAlaArgValThrSerHisSerLeuSerCysArgArgLysGlyIleLeuLysHisSerSerLysTyrSerAlaGlyThrMetAspProAlaLeuValSerProGluMetProThrLeuGluSerLeuSerGluProGlyValProAlaGluGlyLeuSerArgSerTyrSerArgProSerSerValIleSerAspAspSerValLeuSerSerAspSerPheAspLeuLeuAspLeuGlnGluAsnArgProAlaArgGlnArgIleArgSerCysValSerAlaGluAsnPheLeuGlnIleGlnAspPheGluGlyLeuGlnAsnArgProArgProGlnTyrLeuLysArgTyrArgAsnArgLeuAlaAspSerSerPheSerLeuLeuThrAspMetAspAspValThrGlnValTyrLysGlnAlaLeuGluIleCysSerLysLeuAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033514"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1670,
          "referenceAllele": "A",
          "start": 1669
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014311",
      "geneNCBI_id": 9891,
      "geneSymbol": "NUAK1",
      "hgvs": [
        "NM_014840.3:c.1369A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_055655.1:p.Lys457Ter",
        "hgvsWellDefined": "NP_055655.1:p.Lys457_Asn661delinsGlnSerAlaThrMetProLysLysGlyIleLeuLysLysThrGlnGlnArgGluSerGlyTyrTyrSerSerProGluArgSerGluSerSerGluLeuLeuAspSerAsnAspValMetGlySerSerIleProSerProSerProProAspProAlaArgValThrSerHisSerLeuSerCysArgArgLysGlyIleLeuLysHisSerSerLysTyrSerAlaGlyThrMetAspProAlaLeuValSerProGluMetProThrLeuGluSerLeuSerGluProGlyValProAlaGluGlyLeuSerArgSerTyrSerArgProSerSerValIleSerAspAspSerValLeuSerSerAspSerPheAspLeuLeuAspLeuGlnGluAsnArgProAlaArgGlnArgIleArgSerCysValSerAlaGluAsnPheLeuGlnIleGlnAspPheGluGlyLeuGlnAsnArgProArgProGlnTyrLeuLysArgTyrArgAsnArgLeuAlaAspSerSerPheSerLeuLeuThrAspMetAspAspValThrGlnValTyrLysGlnAlaLeuGluIleCysSerLysLeuAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728005",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261402.7:c.1369A>T"
          },
          "RefSeq": {
            "hgvs": "NM_014840.3:c.1369A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261402.2:p.Lys457Ter"
          },
          "RefSeq": {
            "hgvs": "NP_055655.1:p.Lys457Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}