{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA406288237",
  "communityStandardTitle": [
    "NM_001039213.4(CEACAM16):c.459C>A (p.Cys153Ter)"
  ],
  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1170359[alleleid]",
        "alleleId": 1170359,
        "preferredName": "NM_001039213.4(CEACAM16):c.459C>A (p.Cys153Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1180770",
        "RCV": [
          "RCV001814499"
        ],
        "variationId": 1180770
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.45207364C>A?assembly=hg19",
        "id": "chr19:g.45207364C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.44704094C>A?assembly=hg38",
        "id": "chr19:g.44704094C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2122194539",
        "rs": 2122194539
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-44704094-C-A?dataset=gnomad_r4",
        "id": "19-44704094-C-A",
        "variant": "19:44704094 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 44704094,
          "referenceAllele": "C",
          "start": 44704093
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      ],
      "hgvs": [
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        "CM000681.2:g.44704094C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 45207364,
          "referenceAllele": "C",
          "start": 45207363
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      ],
      "hgvs": [
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        "CM000681.1:g.45207364C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 49899204,
          "referenceAllele": "C",
          "start": 49899203
        }
      ],
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      "referenceGenome": "NCBI36",
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    },
    {
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        {
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        "NG_032692.2:g.9944C>A"
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      "referenceSequence": "http://reg.genome.network/refseq/RS005196"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
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        }
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      "geneNCBI_id": 388551,
      "geneSymbol": "CEACAM16",
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        "ENST00000587331.7:c.459C>A"
      ],
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        "hgvsWellDefined": "ENSP00000466561.1:p.Cys153_Gly425delinsSerSerProSerProThrAlaGluValArgTrpPhePheAsnGlyGlyAlaLeuProValAlaLeuArgLeuGlyLeuSerProAspGlyArgValLeuAlaArgHisGlyIleArgArgGluGluAlaGlyAlaTyrGlnCysGluValTrpAsnProValSerValSerArgSerGluProIleAsnLeuThrValTyrPheGlyProGluArgValAlaIleLeuGlnAspSerThrThrArgThrGlyCysThrIleLysValAspPheAsnThrSerLeuThrLeuTrpCysValSerArgSerCysProGluProGluTyrValTrpThrPheAsnGlyGlnAlaLeuLysAsnGlyGlnAspHisLeuAsnIleSerSerMetThrAlaAlaGlnGluGlyThrTyrThrCysIleAlaLysAsnThrLysThrLeuLeuSerGlySerAlaSerValValValLysLeuSerAlaAlaAlaValAlaThrMetIleValProValProThrLysProThrGluGlyGlnAspValThrLeuThrValGlnGlyTyrProLysAspLeuLeuValTyrAlaTrpTyrArgGlyProAlaSerGluProAsnArgLeuLeuSerGlnLeuProSerGlyThrTrpIleAlaGlyProAlaHisThrGlyArgGluValGlyPheProAsnCysSerLeuLeuValGlnLysLeuAsnLeuThrAspThrGlyArgTyrThrLeuLysThrValThrValGlnGlyLysThrGluThrLeuGluValGluLeuGlnValAlaProLeuGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761076",
      "MANE": {
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        "maneStatus": "MANE Select",
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        },
        "protein": {
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          }
        }
      }
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    {
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          "start": 555
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000385576.1:p.Cys153_Gly425delinsSerSerProSerProThrAlaGluValArgTrpPhePheAsnGlyGlyAlaLeuProValAlaLeuArgLeuGlyLeuSerProAspGlyArgValLeuAlaArgHisGlyIleArgArgGluGluAlaGlyAlaTyrGlnCysGluValTrpAsnProValSerValSerArgSerGluProIleAsnLeuThrValTyrPheGlyProGluArgValAlaIleLeuGlnAspSerThrThrArgThrGlyCysThrIleLysValAspPheAsnThrSerLeuThrLeuTrpCysValSerArgSerCysProGluProGluTyrValTrpThrPheAsnGlyGlnAlaLeuLysAsnGlyGlnAspHisLeuAsnIleSerSerMetThrAlaAlaGlnGluGlyThrTyrThrCysIleAlaLysAsnThrLysThrLeuLeuSerGlySerAlaSerValValValLysLeuSerAlaAlaAlaValAlaThrMetIleValProValProThrLysProThrGluGlyGlnAspValThrLeuThrValGlnGlyTyrProLysAspLeuLeuValTyrAlaTrpTyrArgGlyProAlaSerGluProAsnArgLeuLeuSerGlnLeuProSerGlyThrTrpIleAlaGlyProAlaHisThrGlyArgGluValGlyPheProAsnCysSerLeuLeuValGlnLysLeuAsnLeuThrAspThrGlyArgTyrThrLeuLysThrValThrValGlnGlyLysThrGluThrLeuGluValGluLeuGlnValAlaProLeuGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280308"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 674,
          "referenceAllele": "C",
          "start": 673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031948",
      "geneNCBI_id": 388551,
      "geneSymbol": "CEACAM16",
      "hgvs": [
        "ENST00000587331.5:c.459C>A"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000466561.1:p.Cys153_Gly425delinsSerSerProSerProThrAlaGluValArgTrpPhePheAsnGlyGlyAlaLeuProValAlaLeuArgLeuGlyLeuSerProAspGlyArgValLeuAlaArgHisGlyIleArgArgGluGluAlaGlyAlaTyrGlnCysGluValTrpAsnProValSerValSerArgSerGluProIleAsnLeuThrValTyrPheGlyProGluArgValAlaIleLeuGlnAspSerThrThrArgThrGlyCysThrIleLysValAspPheAsnThrSerLeuThrLeuTrpCysValSerArgSerCysProGluProGluTyrValTrpThrPheAsnGlyGlnAlaLeuLysAsnGlyGlnAspHisLeuAsnIleSerSerMetThrAlaAlaGlnGluGlyThrTyrThrCysIleAlaLysAsnThrLysThrLeuLeuSerGlySerAlaSerValValValLysLeuSerAlaAlaAlaValAlaThrMetIleValProValProThrLysProThrGluGlyGlnAspValThrLeuThrValGlnGlyTyrProLysAspLeuLeuValTyrAlaTrpTyrArgGlyProAlaSerGluProAsnArgLeuLeuSerGlnLeuProSerGlyThrTrpIleAlaGlyProAlaHisThrGlyArgGluValGlyPheProAsnCysSerLeuLeuValGlnLysLeuAsnLeuThrAspThrGlyArgTyrThrLeuLysThrValThrValGlnGlyLysThrGluThrLeuGluValGluLeuGlnValAlaProLeuGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS390001"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573064462",
      "coordinates": [
        {
          "allele": "A",
          "end": 665,
          "referenceAllele": "C",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN031948",
      "geneNCBI_id": 388551,
      "geneSymbol": "CEACAM16",
      "hgvs": [
        "NM_001039213.3:c.459C>A"
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_001034302.2:p.Cys153_Gly425delinsSerSerProSerProThrAlaGluValArgTrpPhePheAsnGlyGlyAlaLeuProValAlaLeuArgLeuGlyLeuSerProAspGlyArgValLeuAlaArgHisGlyIleArgArgGluGluAlaGlyAlaTyrGlnCysGluValTrpAsnProValSerValSerArgSerGluProIleAsnLeuThrValTyrPheGlyProGluArgValAlaIleLeuGlnAspSerThrThrArgThrGlyCysThrIleLysValAspPheAsnThrSerLeuThrLeuTrpCysValSerArgSerCysProGluProGluTyrValTrpThrPheAsnGlyGlnAlaLeuLysAsnGlyGlnAspHisLeuAsnIleSerSerMetThrAlaAlaGlnGluGlyThrTyrThrCysIleAlaLysAsnThrLysThrLeuLeuSerGlySerAlaSerValValValLysLeuSerAlaAlaAlaValAlaThrMetIleValProValProThrLysProThrGluGlyGlnAspValThrLeuThrValGlnGlyTyrProLysAspLeuLeuValTyrAlaTrpTyrArgGlyProAlaSerGluProAsnArgLeuLeuSerGlnLeuProSerGlyThrTrpIleAlaGlyProAlaHisThrGlyArgGluValGlyPheProAsnCysSerLeuLeuValGlnLysLeuAsnLeuThrAspThrGlyArgTyrThrLeuLysThrValThrValGlnGlyLysThrGluThrLeuGluValGluLeuGlnValAlaProLeuGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009345"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 768,
          "referenceAllele": "C",
          "start": 767
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031948",
      "geneNCBI_id": 388551,
      "geneSymbol": "CEACAM16",
      "hgvs": [
        "XM_011526951.1:c.459C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525253.1:p.Cys153Ter",
        "hgvsWellDefined": "XP_011525253.1:p.Cys153_Ala568delinsSerSerProSerProThrAlaGluValArgTrpPhePheAsnGlyGlyAlaLeuProValAlaLeuArgLeuGlyLeuSerProAspGlyArgValLeuAlaArgHisGlyIleArgArgGluGluAlaGlyAlaTyrGlnCysGluValTrpAsnProValSerValSerArgSerGluProIleAsnLeuThrValTyrPheGlyProGluArgValAlaIleLeuGlnAspSerThrThrArgThrGlyCysThrIleLysValAspPheAsnThrSerLeuThrLeuTrpCysValSerArgSerCysProGluProGluTyrValTrpThrPheAsnGlyGlnAlaLeuLysAsnGlyGlnAspHisLeuAsnIleSerSerMetThrAlaAlaGlnGluGlyThrTyrThrCysIleAlaLysAsnThrLysThrLeuLeuSerGlySerAlaSerValValValLysLeuSerAlaAlaAlaValAlaThrMetIleValProValProThrLysProThrGluGlyGlnAspValThrLeuThrValGlnGlyTyrProLysAspLeuLeuValTyrAlaTrpTyrArgGlyProAlaSerGluProAsnArgLeuLeuSerGlnLeuProSerGlyThrTrpIleAlaGlyProAlaHisThrGlyArgGluValGlyPheProAsnCysSerLeuLeuValGlnLysLeuAsnLeuThrAspThrGlyArgTyrThrLeuLysThrValThrValGlnGlyLysThrGluThrLeuGluValGluLeuGlnValAlaHisArgAlaPheSerGluAlaMetSerLeuSerProGlyTrpCysLeuProTyrHisTrpLysPheProGlySerArgThrGlnProLeuProValThrHisPheHisProValThrAspGlnThrLeuValPheTrpValSerValArgGlyGluCysCysSerValAlaAlaGlyHisProGlyLysAlaLeuGlyPheLeuPheThrHisSerLeuPheSerGlnSerThrSerLeuProArgThrArgThrAsnAlaThrPheLeuAsnLeuAsnLeuAlaGlnAlaGluArgGlyValAspTrpAlaThrGlyTrpProGlyValGlyArgGlyAlaGluGlyValGlyAlaLeuGlyThrTrpSerSerIleSerLeuThrSerSerPheAlaProSerProHisMetProHisSerProGlyValThrAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094050"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573064462",
      "coordinates": [
        {
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          "end": 665,
          "referenceAllele": "C",
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      ],
      "gene": "http://reg.genome.network/gene/GN031948",
      "geneNCBI_id": 388551,
      "geneSymbol": "CEACAM16",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_001034302.2:p.Cys153_Gly425delinsSerSerProSerProThrAlaGluValArgTrpPhePheAsnGlyGlyAlaLeuProValAlaLeuArgLeuGlyLeuSerProAspGlyArgValLeuAlaArgHisGlyIleArgArgGluGluAlaGlyAlaTyrGlnCysGluValTrpAsnProValSerValSerArgSerGluProIleAsnLeuThrValTyrPheGlyProGluArgValAlaIleLeuGlnAspSerThrThrArgThrGlyCysThrIleLysValAspPheAsnThrSerLeuThrLeuTrpCysValSerArgSerCysProGluProGluTyrValTrpThrPheAsnGlyGlnAlaLeuLysAsnGlyGlnAspHisLeuAsnIleSerSerMetThrAlaAlaGlnGluGlyThrTyrThrCysIleAlaLysAsnThrLysThrLeuLeuSerGlySerAlaSerValValValLysLeuSerAlaAlaAlaValAlaThrMetIleValProValProThrLysProThrGluGlyGlnAspValThrLeuThrValGlnGlyTyrProLysAspLeuLeuValTyrAlaTrpTyrArgGlyProAlaSerGluProAsnArgLeuLeuSerGlnLeuProSerGlyThrTrpIleAlaGlyProAlaHisThrGlyArgGluValGlyPheProAsnCysSerLeuLeuValGlnLysLeuAsnLeuThrAspThrGlyArgTyrThrLeuLysThrValThrValGlnGlyLysThrGluThrLeuGluValGluLeuGlnValAlaProLeuGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511133",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000587331.7:c.459C>A"
          },
          "RefSeq": {
            "hgvs": "NM_001039213.4:c.459C>A"
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        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000466561.1:p.Cys153Ter"
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          "RefSeq": {
            "hgvs": "NP_001034302.2:p.Cys153Ter"
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        }
      }
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    {
      "coordinates": [
        {
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_016882284.1:p.Cys153_Ala473delinsSerSerProSerProThrAlaGluValArgTrpPhePheAsnGlyGlyAlaLeuProValAlaLeuArgLeuGlyLeuSerProAspGlyArgValLeuAlaArgHisGlyIleArgArgGluGluAlaGlyAlaTyrGlnCysGluValTrpAsnProValSerValSerArgSerGluProIleAsnLeuThrValTyrPheGlyProGluArgValAlaIleLeuGlnAspSerThrThrArgThrGlyCysThrIleLysValAspPheAsnThrSerLeuThrLeuTrpCysValSerArgSerCysProGluProGluTyrValTrpThrPheAsnGlyGlnAlaLeuLysAsnGlyGlnAspHisLeuAsnIleSerSerMetThrAlaAlaGlnGluGlyThrTyrThrCysIleAlaLysAsnThrLysThrLeuLeuSerGlySerAlaSerValValValLysLeuSerAlaAlaAlaValAlaThrMetIleValProValProThrLysProThrGluGlyGlnAspValThrLeuThrValGlnGlyTyrProLysAspLeuLeuValTyrAlaTrpTyrArgGlyProAlaSerGluProAsnArgLeuLeuSerGlnLeuProSerGlyThrTrpIleAlaGlyProAlaHisThrGlyArgGluValGlyPheProAsnCysSerLeuLeuValGlnLysLeuAsnLeuThrAspThrGlyArgTyrThrLeuLysThrValThrValGlnGlyLysThrGluThrLeuGluValGluLeuGlnValAlaArgGluCysValGlyArgGlyLysAlaCysProPheLeuAspLysGlySerGlnLysGluProLeuLeuProProSerGlyTrpGlyAspIleAspGlnArgTrpIleProIleProHisGlnAlaGluGlySerSerLeuValSerSerAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576854"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 435,
          "endIntronDirection": "-",
          "endIntronOffset": 4916,
          "referenceAllele": "G",
          "start": 435,
          "startIntronDirection": "-",
          "startIntronOffset": 4917
        }
      ],
      "gene": "http://reg.genome.network/gene/GN055317",
      "geneNCBI_id": 107985305,
      "geneSymbol": "CEACAM16-AS1",
      "hgvs": [
        "XR_001753953.1:n.436-4917G>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS600339"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 372,
          "endIntronDirection": "-",
          "endIntronOffset": 4916,
          "referenceAllele": "G",
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          "startIntronOffset": 4917
        }
      ],
      "gene": "http://reg.genome.network/gene/GN055317",
      "geneNCBI_id": 107985305,
      "geneSymbol": "CEACAM16-AS1",
      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS600340"
    }
  ],
  "type": "nucleotide"
}