{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA124223",
  "communityStandardTitle": [
    "NM_000208.4(INSR):c.2770C>T (p.Arg924Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4581567",
        "active": true,
        "id": "COSM4581567"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4581568",
        "active": true,
        "id": "COSM4581568"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=29725[alleleid]",
        "alleleId": 29725,
        "preferredName": "NM_000208.4(INSR):c.2770C>T (p.Arg924Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/14686",
        "RCV": [
          "RCV000015800"
        ],
        "variationId": 14686
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.7132241G>A?assembly=hg19",
        "id": "chr19:g.7132241G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.7132230G>A?assembly=hg38",
        "id": "chr19:g.7132230G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/387906538",
        "rs": 387906538
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-7132230-G-A?dataset=gnomad_r4",
        "id": "19-7132230-G-A",
        "variant": "19:7132230 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 7132230,
          "referenceAllele": "G",
          "start": 7132229
        }
      ],
      "hgvs": [
        "NC_000019.10:g.7132230G>A",
        "CM000681.2:g.7132230G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 7132241,
          "referenceAllele": "G",
          "start": 7132240
        }
      ],
      "hgvs": [
        "NC_000019.9:g.7132241G>A",
        "CM000681.1:g.7132241G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 7083241,
          "referenceAllele": "G",
          "start": 7083240
        }
      ],
      "hgvs": [
        "NC_000019.8:g.7083241G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 166771,
          "referenceAllele": "C",
          "start": 166770
        }
      ],
      "hgvs": [
        "NG_008852.2:g.166771C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001249"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3293,
          "referenceAllele": "C",
          "start": 3292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006091",
      "geneNCBI_id": 3643,
      "geneSymbol": "INSR",
      "hgvs": [
        "ENST00000302850.10:c.2770C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303830.4:p.Arg924Ter",
        "hgvsWellDefined": "ENSP00000303830.4:p.Arg924_Ser1382delinsIleArgAlaThrSerLeuAlaGlyAsnGlySerTrpThrGluProThrTyrPheTyrValThrAspTyrLeuAspValProSerAsnIleAlaLysIleIleIleGlyProLeuIlePheValPheLeuPheSerValValIleGlySerIleTyrLeuPheLeuArgLysArgGlnProAspGlyProLeuGlyProLeuTyrAlaSerSerAsnProGluTyrLeuSerAlaSerAspValPheProCysSerValTyrValProAspGluTrpGluValSerArgGluLysIleThrLeuLeuArgGluLeuGlyGlnGlySerPheGlyMetValTyrGluGlyAsnAlaArgAspIleIleLysGlyGluAlaGluThrArgValAlaValLysThrValAsnGluSerAlaSerLeuArgGluArgIleGluPheLeuAsnGluAlaSerValMetLysGlyPheThrCysHisHisValValArgLeuLeuGlyValValSerLysGlyGlnProThrLeuValValMetGluLeuMetAlaHisGlyAspLeuLysSerTyrLeuArgSerLeuArgProGluAlaGluAsnAsnProGlyArgProProProThrLeuGlnGluMetIleGlnMetAlaAlaGluIleAlaAspGlyMetAlaTyrLeuAsnAlaLysLysPheValHisArgAspLeuAlaAlaArgAsnCysMetValAlaHisAspPheThrValLysIleGlyAspPheGlyMetThrArgAspIleTyrGluThrAspTyrTyrArgLysGlyGlyLysGlyLeuLeuProValArgTrpMetAlaProGluSerLeuLysAspGlyValPheThrThrSerSerAspMetTrpSerPheGlyValValLeuTrpGluIleThrSerLeuAlaGluGlnProTyrGlnGlyLeuSerAsnGluGlnValLeuLysPheValMetAspGlyGlyTyrLeuAspGlnProAspAsnCysProGluArgValThrAspLeuMetArgMetCysTrpGlnPheAsnProLysMetArgProThrPheLeuGluIleValAsnLeuLeuLysAspAspLeuHisProSerPheProGluValSerPhePheHisSerGluGluAsnLysAlaProGluSerGluGluLeuGluMetGluPheGluAspMetGluAsnValProLeuAspArgSerSerHisCysGlnArgGluGluAlaGlyGlyArgAspGlyGlySerSerLeuGlyPheLysArgSerTyrGluGluHisIleProTyrThrHisMetAsnGlyGlyLysLysAsnGlyArgIleLeuThrLeuProArgSerAsnProSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744986",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000302850.10:c.2770C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000208.4:c.2770C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000303830.4:p.Arg924Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000199.2:p.Arg924Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2913,
          "referenceAllele": "C",
          "start": 2912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006091",
      "geneNCBI_id": 3643,
      "geneSymbol": "INSR",
      "hgvs": [
        "ENST00000302850.9:c.2770C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303830.4:p.Arg924Ter",
        "hgvsWellDefined": "ENSP00000303830.4:p.Arg924_Ser1382delinsIleArgAlaThrSerLeuAlaGlyAsnGlySerTrpThrGluProThrTyrPheTyrValThrAspTyrLeuAspValProSerAsnIleAlaLysIleIleIleGlyProLeuIlePheValPheLeuPheSerValValIleGlySerIleTyrLeuPheLeuArgLysArgGlnProAspGlyProLeuGlyProLeuTyrAlaSerSerAsnProGluTyrLeuSerAlaSerAspValPheProCysSerValTyrValProAspGluTrpGluValSerArgGluLysIleThrLeuLeuArgGluLeuGlyGlnGlySerPheGlyMetValTyrGluGlyAsnAlaArgAspIleIleLysGlyGluAlaGluThrArgValAlaValLysThrValAsnGluSerAlaSerLeuArgGluArgIleGluPheLeuAsnGluAlaSerValMetLysGlyPheThrCysHisHisValValArgLeuLeuGlyValValSerLysGlyGlnProThrLeuValValMetGluLeuMetAlaHisGlyAspLeuLysSerTyrLeuArgSerLeuArgProGluAlaGluAsnAsnProGlyArgProProProThrLeuGlnGluMetIleGlnMetAlaAlaGluIleAlaAspGlyMetAlaTyrLeuAsnAlaLysLysPheValHisArgAspLeuAlaAlaArgAsnCysMetValAlaHisAspPheThrValLysIleGlyAspPheGlyMetThrArgAspIleTyrGluThrAspTyrTyrArgLysGlyGlyLysGlyLeuLeuProValArgTrpMetAlaProGluSerLeuLysAspGlyValPheThrThrSerSerAspMetTrpSerPheGlyValValLeuTrpGluIleThrSerLeuAlaGluGlnProTyrGlnGlyLeuSerAsnGluGlnValLeuLysPheValMetAspGlyGlyTyrLeuAspGlnProAspAsnCysProGluArgValThrAspLeuMetArgMetCysTrpGlnPheAsnProLysMetArgProThrPheLeuGluIleValAsnLeuLeuLysAspAspLeuHisProSerPheProGluValSerPhePheHisSerGluGluAsnLysAlaProGluSerGluGluLeuGluMetGluPheGluAspMetGluAsnValProLeuAspArgSerSerHisCysGlnArgGluGluAlaGlyGlyArgAspGlyGlySerSerLeuGlyPheLysArgSerTyrGluGluHisIleProTyrThrHisMetAsnGlyGlyLysLysAsnGlyArgIleLeuThrLeuProArgSerAsnProSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255241"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2774,
          "referenceAllele": "C",
          "start": 2773
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006091",
      "geneNCBI_id": 3643,
      "geneSymbol": "INSR",
      "hgvs": [
        "ENST00000341500.9:c.2734C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342838.4:p.Arg912Ter",
        "hgvsWellDefined": "ENSP00000342838.4:p.Arg912_Ser1370delinsIleArgAlaThrSerLeuAlaGlyAsnGlySerTrpThrGluProThrTyrPheTyrValThrAspTyrLeuAspValProSerAsnIleAlaLysIleIleIleGlyProLeuIlePheValPheLeuPheSerValValIleGlySerIleTyrLeuPheLeuArgLysArgGlnProAspGlyProLeuGlyProLeuTyrAlaSerSerAsnProGluTyrLeuSerAlaSerAspValPheProCysSerValTyrValProAspGluTrpGluValSerArgGluLysIleThrLeuLeuArgGluLeuGlyGlnGlySerPheGlyMetValTyrGluGlyAsnAlaArgAspIleIleLysGlyGluAlaGluThrArgValAlaValLysThrValAsnGluSerAlaSerLeuArgGluArgIleGluPheLeuAsnGluAlaSerValMetLysGlyPheThrCysHisHisValValArgLeuLeuGlyValValSerLysGlyGlnProThrLeuValValMetGluLeuMetAlaHisGlyAspLeuLysSerTyrLeuArgSerLeuArgProGluAlaGluAsnAsnProGlyArgProProProThrLeuGlnGluMetIleGlnMetAlaAlaGluIleAlaAspGlyMetAlaTyrLeuAsnAlaLysLysPheValHisArgAspLeuAlaAlaArgAsnCysMetValAlaHisAspPheThrValLysIleGlyAspPheGlyMetThrArgAspIleTyrGluThrAspTyrTyrArgLysGlyGlyLysGlyLeuLeuProValArgTrpMetAlaProGluSerLeuLysAspGlyValPheThrThrSerSerAspMetTrpSerPheGlyValValLeuTrpGluIleThrSerLeuAlaGluGlnProTyrGlnGlyLeuSerAsnGluGlnValLeuLysPheValMetAspGlyGlyTyrLeuAspGlnProAspAsnCysProGluArgValThrAspLeuMetArgMetCysTrpGlnPheAsnProLysMetArgProThrPheLeuGluIleValAsnLeuLeuLysAspAspLeuHisProSerPheProGluValSerPhePheHisSerGluGluAsnLysAlaProGluSerGluGluLeuGluMetGluPheGluAspMetGluAsnValProLeuAspArgSerSerHisCysGlnArgGluGluAlaGlyGlyArgAspGlyGlySerSerLeuGlyPheLysArgSerTyrGluGluHisIleProTyrThrHisMetAsnGlyGlyLysLysAsnGlyArgIleLeuThrLeuProArgSerAsnProSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261351"
    },
    {
      "@id": "http://reg.genome.network/allele/PA124224",
      "coordinates": [
        {
          "allele": "T",
          "end": 2879,
          "referenceAllele": "C",
          "start": 2878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006091",
      "geneNCBI_id": 3643,
      "geneSymbol": "INSR",
      "hgvs": [
        "NM_000208.2:c.2770C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000199.2:p.Arg924Ter",
        "hgvsWellDefined": "NP_000199.2:p.Arg924_Ser1382delinsIleArgAlaThrSerLeuAlaGlyAsnGlySerTrpThrGluProThrTyrPheTyrValThrAspTyrLeuAspValProSerAsnIleAlaLysIleIleIleGlyProLeuIlePheValPheLeuPheSerValValIleGlySerIleTyrLeuPheLeuArgLysArgGlnProAspGlyProLeuGlyProLeuTyrAlaSerSerAsnProGluTyrLeuSerAlaSerAspValPheProCysSerValTyrValProAspGluTrpGluValSerArgGluLysIleThrLeuLeuArgGluLeuGlyGlnGlySerPheGlyMetValTyrGluGlyAsnAlaArgAspIleIleLysGlyGluAlaGluThrArgValAlaValLysThrValAsnGluSerAlaSerLeuArgGluArgIleGluPheLeuAsnGluAlaSerValMetLysGlyPheThrCysHisHisValValArgLeuLeuGlyValValSerLysGlyGlnProThrLeuValValMetGluLeuMetAlaHisGlyAspLeuLysSerTyrLeuArgSerLeuArgProGluAlaGluAsnAsnProGlyArgProProProThrLeuGlnGluMetIleGlnMetAlaAlaGluIleAlaAspGlyMetAlaTyrLeuAsnAlaLysLysPheValHisArgAspLeuAlaAlaArgAsnCysMetValAlaHisAspPheThrValLysIleGlyAspPheGlyMetThrArgAspIleTyrGluThrAspTyrTyrArgLysGlyGlyLysGlyLeuLeuProValArgTrpMetAlaProGluSerLeuLysAspGlyValPheThrThrSerSerAspMetTrpSerPheGlyValValLeuTrpGluIleThrSerLeuAlaGluGlnProTyrGlnGlyLeuSerAsnGluGlnValLeuLysPheValMetAspGlyGlyTyrLeuAspGlnProAspAsnCysProGluArgValThrAspLeuMetArgMetCysTrpGlnPheAsnProLysMetArgProThrPheLeuGluIleValAsnLeuLeuLysAspAspLeuHisProSerPheProGluValSerPhePheHisSerGluGluAsnLysAlaProGluSerGluGluLeuGluMetGluPheGluAspMetGluAsnValProLeuAspArgSerSerHisCysGlnArgGluGluAlaGlyGlyArgAspGlyGlySerSerLeuGlyPheLysArgSerTyrGluGluHisIleProTyrThrHisMetAsnGlyGlyLysLysAsnGlyArgIleLeuThrLeuProArgSerAsnProSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006271"
    },
    {
      "@id": "http://reg.genome.network/allele/PA124224",
      "coordinates": [
        {
          "allele": "T",
          "end": 3181,
          "referenceAllele": "C",
          "start": 3180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006091",
      "geneNCBI_id": 3643,
      "geneSymbol": "INSR",
      "hgvs": [
        "NM_000208.3:c.2770C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000199.2:p.Arg924Ter",
        "hgvsWellDefined": "NP_000199.2:p.Arg924_Ser1382delinsIleArgAlaThrSerLeuAlaGlyAsnGlySerTrpThrGluProThrTyrPheTyrValThrAspTyrLeuAspValProSerAsnIleAlaLysIleIleIleGlyProLeuIlePheValPheLeuPheSerValValIleGlySerIleTyrLeuPheLeuArgLysArgGlnProAspGlyProLeuGlyProLeuTyrAlaSerSerAsnProGluTyrLeuSerAlaSerAspValPheProCysSerValTyrValProAspGluTrpGluValSerArgGluLysIleThrLeuLeuArgGluLeuGlyGlnGlySerPheGlyMetValTyrGluGlyAsnAlaArgAspIleIleLysGlyGluAlaGluThrArgValAlaValLysThrValAsnGluSerAlaSerLeuArgGluArgIleGluPheLeuAsnGluAlaSerValMetLysGlyPheThrCysHisHisValValArgLeuLeuGlyValValSerLysGlyGlnProThrLeuValValMetGluLeuMetAlaHisGlyAspLeuLysSerTyrLeuArgSerLeuArgProGluAlaGluAsnAsnProGlyArgProProProThrLeuGlnGluMetIleGlnMetAlaAlaGluIleAlaAspGlyMetAlaTyrLeuAsnAlaLysLysPheValHisArgAspLeuAlaAlaArgAsnCysMetValAlaHisAspPheThrValLysIleGlyAspPheGlyMetThrArgAspIleTyrGluThrAspTyrTyrArgLysGlyGlyLysGlyLeuLeuProValArgTrpMetAlaProGluSerLeuLysAspGlyValPheThrThrSerSerAspMetTrpSerPheGlyValValLeuTrpGluIleThrSerLeuAlaGluGlnProTyrGlnGlyLeuSerAsnGluGlnValLeuLysPheValMetAspGlyGlyTyrLeuAspGlnProAspAsnCysProGluArgValThrAspLeuMetArgMetCysTrpGlnPheAsnProLysMetArgProThrPheLeuGluIleValAsnLeuLeuLysAspAspLeuHisProSerPheProGluValSerPhePheHisSerGluGluAsnLysAlaProGluSerGluGluLeuGluMetGluPheGluAspMetGluAsnValProLeuAspArgSerSerHisCysGlnArgGluGluAlaGlyGlyArgAspGlyGlySerSerLeuGlyPheLysArgSerTyrGluGluHisIleProTyrThrHisMetAsnGlyGlyLysLysAsnGlyArgIleLeuThrLeuProArgSerAsnProSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006272"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825447959",
      "coordinates": [
        {
          "allele": "T",
          "end": 2843,
          "referenceAllele": "C",
          "start": 2842
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006091",
      "geneNCBI_id": 3643,
      "geneSymbol": "INSR",
      "hgvs": [
        "NM_001079817.1:c.2734C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073285.1:p.Arg912Ter",
        "hgvsWellDefined": "NP_001073285.1:p.Arg912_Ser1370delinsIleArgAlaThrSerLeuAlaGlyAsnGlySerTrpThrGluProThrTyrPheTyrValThrAspTyrLeuAspValProSerAsnIleAlaLysIleIleIleGlyProLeuIlePheValPheLeuPheSerValValIleGlySerIleTyrLeuPheLeuArgLysArgGlnProAspGlyProLeuGlyProLeuTyrAlaSerSerAsnProGluTyrLeuSerAlaSerAspValPheProCysSerValTyrValProAspGluTrpGluValSerArgGluLysIleThrLeuLeuArgGluLeuGlyGlnGlySerPheGlyMetValTyrGluGlyAsnAlaArgAspIleIleLysGlyGluAlaGluThrArgValAlaValLysThrValAsnGluSerAlaSerLeuArgGluArgIleGluPheLeuAsnGluAlaSerValMetLysGlyPheThrCysHisHisValValArgLeuLeuGlyValValSerLysGlyGlnProThrLeuValValMetGluLeuMetAlaHisGlyAspLeuLysSerTyrLeuArgSerLeuArgProGluAlaGluAsnAsnProGlyArgProProProThrLeuGlnGluMetIleGlnMetAlaAlaGluIleAlaAspGlyMetAlaTyrLeuAsnAlaLysLysPheValHisArgAspLeuAlaAlaArgAsnCysMetValAlaHisAspPheThrValLysIleGlyAspPheGlyMetThrArgAspIleTyrGluThrAspTyrTyrArgLysGlyGlyLysGlyLeuLeuProValArgTrpMetAlaProGluSerLeuLysAspGlyValPheThrThrSerSerAspMetTrpSerPheGlyValValLeuTrpGluIleThrSerLeuAlaGluGlnProTyrGlnGlyLeuSerAsnGluGlnValLeuLysPheValMetAspGlyGlyTyrLeuAspGlnProAspAsnCysProGluArgValThrAspLeuMetArgMetCysTrpGlnPheAsnProLysMetArgProThrPheLeuGluIleValAsnLeuLeuLysAspAspLeuHisProSerPheProGluValSerPhePheHisSerGluGluAsnLysAlaProGluSerGluGluLeuGluMetGluPheGluAspMetGluAsnValProLeuAspArgSerSerHisCysGlnArgGluGluAlaGlyGlyArgAspGlyGlySerSerLeuGlyPheLysArgSerTyrGluGluHisIleProTyrThrHisMetAsnGlyGlyLysLysAsnGlyArgIleLeuThrLeuProArgSerAsnProSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010098"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825447959",
      "coordinates": [
        {
          "allele": "T",
          "end": 3145,
          "referenceAllele": "C",
          "start": 3144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006091",
      "geneNCBI_id": 3643,
      "geneSymbol": "INSR",
      "hgvs": [
        "NM_001079817.2:c.2734C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073285.1:p.Arg912Ter",
        "hgvsWellDefined": "NP_001073285.1:p.Arg912_Ser1370delinsIleArgAlaThrSerLeuAlaGlyAsnGlySerTrpThrGluProThrTyrPheTyrValThrAspTyrLeuAspValProSerAsnIleAlaLysIleIleIleGlyProLeuIlePheValPheLeuPheSerValValIleGlySerIleTyrLeuPheLeuArgLysArgGlnProAspGlyProLeuGlyProLeuTyrAlaSerSerAsnProGluTyrLeuSerAlaSerAspValPheProCysSerValTyrValProAspGluTrpGluValSerArgGluLysIleThrLeuLeuArgGluLeuGlyGlnGlySerPheGlyMetValTyrGluGlyAsnAlaArgAspIleIleLysGlyGluAlaGluThrArgValAlaValLysThrValAsnGluSerAlaSerLeuArgGluArgIleGluPheLeuAsnGluAlaSerValMetLysGlyPheThrCysHisHisValValArgLeuLeuGlyValValSerLysGlyGlnProThrLeuValValMetGluLeuMetAlaHisGlyAspLeuLysSerTyrLeuArgSerLeuArgProGluAlaGluAsnAsnProGlyArgProProProThrLeuGlnGluMetIleGlnMetAlaAlaGluIleAlaAspGlyMetAlaTyrLeuAsnAlaLysLysPheValHisArgAspLeuAlaAlaArgAsnCysMetValAlaHisAspPheThrValLysIleGlyAspPheGlyMetThrArgAspIleTyrGluThrAspTyrTyrArgLysGlyGlyLysGlyLeuLeuProValArgTrpMetAlaProGluSerLeuLysAspGlyValPheThrThrSerSerAspMetTrpSerPheGlyValValLeuTrpGluIleThrSerLeuAlaGluGlnProTyrGlnGlyLeuSerAsnGluGlnValLeuLysPheValMetAspGlyGlyTyrLeuAspGlnProAspAsnCysProGluArgValThrAspLeuMetArgMetCysTrpGlnPheAsnProLysMetArgProThrPheLeuGluIleValAsnLeuLeuLysAspAspLeuHisProSerPheProGluValSerPhePheHisSerGluGluAsnLysAlaProGluSerGluGluLeuGluMetGluPheGluAspMetGluAsnValProLeuAspArgSerSerHisCysGlnArgGluGluAlaGlyGlyArgAspGlyGlySerSerLeuGlyPheLysArgSerTyrGluGluHisIleProTyrThrHisMetAsnGlyGlyLysLysAsnGlyArgIleLeuThrLeuProArgSerAsnProSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010099"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3487,
          "referenceAllele": "C",
          "start": 3486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006091",
      "geneNCBI_id": 3643,
      "geneSymbol": "INSR",
      "hgvs": [
        "XM_011527988.1:c.2848C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526290.1:p.Arg950Ter",
        "hgvsWellDefined": "XP_011526290.1:p.Arg950_Ser1407delinsIleArgAlaThrSerLeuAlaGlyAsnGlySerTrpThrGluProThrTyrPheTyrValThrAspTyrTyrValProSerAsnIleAlaLysIleIleIleGlyProLeuIlePheValPheLeuPheSerValValIleGlySerIleTyrLeuPheLeuArgLysArgGlnProAspGlyProLeuGlyProLeuTyrAlaSerSerAsnProGluTyrLeuSerAlaSerAspValPheProCysSerValTyrValProAspGluTrpGluValSerArgGluLysIleThrLeuLeuArgGluLeuGlyGlnGlySerPheGlyMetValTyrGluGlyAsnAlaArgAspIleIleLysGlyGluAlaGluThrArgValAlaValLysThrValAsnGluSerAlaSerLeuArgGluArgIleGluPheLeuAsnGluAlaSerValMetLysGlyPheThrCysHisHisValValArgLeuLeuGlyValValSerLysGlyGlnProThrLeuValValMetGluLeuMetAlaHisGlyAspLeuLysSerTyrLeuArgSerLeuArgProGluAlaGluAsnAsnProGlyArgProProProThrLeuGlnGluMetIleGlnMetAlaAlaGluIleAlaAspGlyMetAlaTyrLeuAsnAlaLysLysPheValHisArgAspLeuAlaAlaArgAsnCysMetValAlaHisAspPheThrValLysIleGlyAspPheGlyMetThrArgAspIleTyrGluThrAspTyrTyrArgLysGlyGlyLysGlyLeuLeuProValArgTrpMetAlaProGluSerLeuLysAspGlyValPheThrThrSerSerAspMetTrpSerPheGlyValValLeuTrpGluIleThrSerLeuAlaGluGlnProTyrGlnGlyLeuSerAsnGluGlnValLeuLysPheValMetAspGlyGlyTyrLeuAspGlnProAspAsnCysProGluArgValThrAspLeuMetArgMetCysTrpGlnPheAsnProLysMetArgProThrPheLeuGluIleValAsnLeuLeuLysAspAspLeuHisProSerPheProGluValSerPhePheHisSerGluGluAsnLysAlaProGluSerGluGluLeuGluMetGluPheGluAspMetGluAsnValProLeuAspArgSerSerHisCysGlnArgGluGluAlaGlyGlyArgAspGlyGlySerSerLeuGlyPheLysArgSerTyrGluGluHisIleProTyrThrHisMetAsnGlyGlyLysLysAsnGlyArgIleLeuThrLeuProArgSerAsnProSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095068"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3451,
          "referenceAllele": "C",
          "start": 3450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006091",
      "geneNCBI_id": 3643,
      "geneSymbol": "INSR",
      "hgvs": [
        "XM_011527989.1:c.2812C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526291.1:p.Arg938Ter",
        "hgvsWellDefined": "XP_011526291.1:p.Arg938_Ser1395delinsIleArgAlaThrSerLeuAlaGlyAsnGlySerTrpThrGluProThrTyrPheTyrValThrAspTyrTyrValProSerAsnIleAlaLysIleIleIleGlyProLeuIlePheValPheLeuPheSerValValIleGlySerIleTyrLeuPheLeuArgLysArgGlnProAspGlyProLeuGlyProLeuTyrAlaSerSerAsnProGluTyrLeuSerAlaSerAspValPheProCysSerValTyrValProAspGluTrpGluValSerArgGluLysIleThrLeuLeuArgGluLeuGlyGlnGlySerPheGlyMetValTyrGluGlyAsnAlaArgAspIleIleLysGlyGluAlaGluThrArgValAlaValLysThrValAsnGluSerAlaSerLeuArgGluArgIleGluPheLeuAsnGluAlaSerValMetLysGlyPheThrCysHisHisValValArgLeuLeuGlyValValSerLysGlyGlnProThrLeuValValMetGluLeuMetAlaHisGlyAspLeuLysSerTyrLeuArgSerLeuArgProGluAlaGluAsnAsnProGlyArgProProProThrLeuGlnGluMetIleGlnMetAlaAlaGluIleAlaAspGlyMetAlaTyrLeuAsnAlaLysLysPheValHisArgAspLeuAlaAlaArgAsnCysMetValAlaHisAspPheThrValLysIleGlyAspPheGlyMetThrArgAspIleTyrGluThrAspTyrTyrArgLysGlyGlyLysGlyLeuLeuProValArgTrpMetAlaProGluSerLeuLysAspGlyValPheThrThrSerSerAspMetTrpSerPheGlyValValLeuTrpGluIleThrSerLeuAlaGluGlnProTyrGlnGlyLeuSerAsnGluGlnValLeuLysPheValMetAspGlyGlyTyrLeuAspGlnProAspAsnCysProGluArgValThrAspLeuMetArgMetCysTrpGlnPheAsnProLysMetArgProThrPheLeuGluIleValAsnLeuLeuLysAspAspLeuHisProSerPheProGluValSerPhePheHisSerGluGluAsnLysAlaProGluSerGluGluLeuGluMetGluPheGluAspMetGluAsnValProLeuAspArgSerSerHisCysGlnArgGluGluAlaGlyGlyArgAspGlyGlySerSerLeuGlyPheLysArgSerTyrGluGluHisIleProTyrThrHisMetAsnGlyGlyLysLysAsnGlyArgIleLeuThrLeuProArgSerAsnProSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095069"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3284,
          "referenceAllele": "C",
          "start": 3283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006091",
      "geneNCBI_id": 3643,
      "geneSymbol": "INSR",
      "hgvs": [
        "XM_011527988.2:c.2770C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526290.2:p.Arg924Ter",
        "hgvsWellDefined": "XP_011526290.2:p.Arg924_Ser1381delinsIleArgAlaThrSerLeuAlaGlyAsnGlySerTrpThrGluProThrTyrPheTyrValThrAspTyrTyrValProSerAsnIleAlaLysIleIleIleGlyProLeuIlePheValPheLeuPheSerValValIleGlySerIleTyrLeuPheLeuArgLysArgGlnProAspGlyProLeuGlyProLeuTyrAlaSerSerAsnProGluTyrLeuSerAlaSerAspValPheProCysSerValTyrValProAspGluTrpGluValSerArgGluLysIleThrLeuLeuArgGluLeuGlyGlnGlySerPheGlyMetValTyrGluGlyAsnAlaArgAspIleIleLysGlyGluAlaGluThrArgValAlaValLysThrValAsnGluSerAlaSerLeuArgGluArgIleGluPheLeuAsnGluAlaSerValMetLysGlyPheThrCysHisHisValValArgLeuLeuGlyValValSerLysGlyGlnProThrLeuValValMetGluLeuMetAlaHisGlyAspLeuLysSerTyrLeuArgSerLeuArgProGluAlaGluAsnAsnProGlyArgProProProThrLeuGlnGluMetIleGlnMetAlaAlaGluIleAlaAspGlyMetAlaTyrLeuAsnAlaLysLysPheValHisArgAspLeuAlaAlaArgAsnCysMetValAlaHisAspPheThrValLysIleGlyAspPheGlyMetThrArgAspIleTyrGluThrAspTyrTyrArgLysGlyGlyLysGlyLeuLeuProValArgTrpMetAlaProGluSerLeuLysAspGlyValPheThrThrSerSerAspMetTrpSerPheGlyValValLeuTrpGluIleThrSerLeuAlaGluGlnProTyrGlnGlyLeuSerAsnGluGlnValLeuLysPheValMetAspGlyGlyTyrLeuAspGlnProAspAsnCysProGluArgValThrAspLeuMetArgMetCysTrpGlnPheAsnProLysMetArgProThrPheLeuGluIleValAsnLeuLeuLysAspAspLeuHisProSerPheProGluValSerPhePheHisSerGluGluAsnLysAlaProGluSerGluGluLeuGluMetGluPheGluAspMetGluAsnValProLeuAspArgSerSerHisCysGlnArgGluGluAlaGlyGlyArgAspGlyGlySerSerLeuGlyPheLysArgSerTyrGluGluHisIleProTyrThrHisMetAsnGlyGlyLysLysAsnGlyArgIleLeuThrLeuProArgSerAsnProSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548925"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3248,
          "referenceAllele": "C",
          "start": 3247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006091",
      "geneNCBI_id": 3643,
      "geneSymbol": "INSR",
      "hgvs": [
        "XM_011527989.3:c.2734C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526291.2:p.Arg912Ter",
        "hgvsWellDefined": "XP_011526291.2:p.Arg912_Ser1369delinsIleArgAlaThrSerLeuAlaGlyAsnGlySerTrpThrGluProThrTyrPheTyrValThrAspTyrTyrValProSerAsnIleAlaLysIleIleIleGlyProLeuIlePheValPheLeuPheSerValValIleGlySerIleTyrLeuPheLeuArgLysArgGlnProAspGlyProLeuGlyProLeuTyrAlaSerSerAsnProGluTyrLeuSerAlaSerAspValPheProCysSerValTyrValProAspGluTrpGluValSerArgGluLysIleThrLeuLeuArgGluLeuGlyGlnGlySerPheGlyMetValTyrGluGlyAsnAlaArgAspIleIleLysGlyGluAlaGluThrArgValAlaValLysThrValAsnGluSerAlaSerLeuArgGluArgIleGluPheLeuAsnGluAlaSerValMetLysGlyPheThrCysHisHisValValArgLeuLeuGlyValValSerLysGlyGlnProThrLeuValValMetGluLeuMetAlaHisGlyAspLeuLysSerTyrLeuArgSerLeuArgProGluAlaGluAsnAsnProGlyArgProProProThrLeuGlnGluMetIleGlnMetAlaAlaGluIleAlaAspGlyMetAlaTyrLeuAsnAlaLysLysPheValHisArgAspLeuAlaAlaArgAsnCysMetValAlaHisAspPheThrValLysIleGlyAspPheGlyMetThrArgAspIleTyrGluThrAspTyrTyrArgLysGlyGlyLysGlyLeuLeuProValArgTrpMetAlaProGluSerLeuLysAspGlyValPheThrThrSerSerAspMetTrpSerPheGlyValValLeuTrpGluIleThrSerLeuAlaGluGlnProTyrGlnGlyLeuSerAsnGluGlnValLeuLysPheValMetAspGlyGlyTyrLeuAspGlnProAspAsnCysProGluArgValThrAspLeuMetArgMetCysTrpGlnPheAsnProLysMetArgProThrPheLeuGluIleValAsnLeuLeuLysAspAspLeuHisProSerPheProGluValSerPhePheHisSerGluGluAsnLysAlaProGluSerGluGluLeuGluMetGluPheGluAspMetGluAsnValProLeuAspArgSerSerHisCysGlnArgGluGluAlaGlyGlyArgAspGlyGlySerSerLeuGlyPheLysArgSerTyrGluGluHisIleProTyrThrHisMetAsnGlyGlyLysLysAsnGlyArgIleLeuThrLeuProArgSerAsnProSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548926"
    },
    {
      "@id": "http://reg.genome.network/allele/PA124224",
      "coordinates": [
        {
          "allele": "T",
          "end": 3293,
          "referenceAllele": "C",
          "start": 3292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006091",
      "geneNCBI_id": 3643,
      "geneSymbol": "INSR",
      "hgvs": [
        "NM_000208.4:c.2770C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000199.2:p.Arg924Ter",
        "hgvsWellDefined": "NP_000199.2:p.Arg924_Ser1382delinsIleArgAlaThrSerLeuAlaGlyAsnGlySerTrpThrGluProThrTyrPheTyrValThrAspTyrLeuAspValProSerAsnIleAlaLysIleIleIleGlyProLeuIlePheValPheLeuPheSerValValIleGlySerIleTyrLeuPheLeuArgLysArgGlnProAspGlyProLeuGlyProLeuTyrAlaSerSerAsnProGluTyrLeuSerAlaSerAspValPheProCysSerValTyrValProAspGluTrpGluValSerArgGluLysIleThrLeuLeuArgGluLeuGlyGlnGlySerPheGlyMetValTyrGluGlyAsnAlaArgAspIleIleLysGlyGluAlaGluThrArgValAlaValLysThrValAsnGluSerAlaSerLeuArgGluArgIleGluPheLeuAsnGluAlaSerValMetLysGlyPheThrCysHisHisValValArgLeuLeuGlyValValSerLysGlyGlnProThrLeuValValMetGluLeuMetAlaHisGlyAspLeuLysSerTyrLeuArgSerLeuArgProGluAlaGluAsnAsnProGlyArgProProProThrLeuGlnGluMetIleGlnMetAlaAlaGluIleAlaAspGlyMetAlaTyrLeuAsnAlaLysLysPheValHisArgAspLeuAlaAlaArgAsnCysMetValAlaHisAspPheThrValLysIleGlyAspPheGlyMetThrArgAspIleTyrGluThrAspTyrTyrArgLysGlyGlyLysGlyLeuLeuProValArgTrpMetAlaProGluSerLeuLysAspGlyValPheThrThrSerSerAspMetTrpSerPheGlyValValLeuTrpGluIleThrSerLeuAlaGluGlnProTyrGlnGlyLeuSerAsnGluGlnValLeuLysPheValMetAspGlyGlyTyrLeuAspGlnProAspAsnCysProGluArgValThrAspLeuMetArgMetCysTrpGlnPheAsnProLysMetArgProThrPheLeuGluIleValAsnLeuLeuLysAspAspLeuHisProSerPheProGluValSerPhePheHisSerGluGluAsnLysAlaProGluSerGluGluLeuGluMetGluPheGluAspMetGluAsnValProLeuAspArgSerSerHisCysGlnArgGluGluAlaGlyGlyArgAspGlyGlySerSerLeuGlyPheLysArgSerTyrGluGluHisIleProTyrThrHisMetAsnGlyGlyLysLysAsnGlyArgIleLeuThrLeuProArgSerAsnProSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662356",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000302850.10:c.2770C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000208.4:c.2770C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000303830.4:p.Arg924Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000199.2:p.Arg924Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825447959",
      "coordinates": [
        {
          "allele": "T",
          "end": 3257,
          "referenceAllele": "C",
          "start": 3256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006091",
      "geneNCBI_id": 3643,
      "geneSymbol": "INSR",
      "hgvs": [
        "NM_001079817.3:c.2734C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073285.1:p.Arg912Ter",
        "hgvsWellDefined": "NP_001073285.1:p.Arg912_Ser1370delinsIleArgAlaThrSerLeuAlaGlyAsnGlySerTrpThrGluProThrTyrPheTyrValThrAspTyrLeuAspValProSerAsnIleAlaLysIleIleIleGlyProLeuIlePheValPheLeuPheSerValValIleGlySerIleTyrLeuPheLeuArgLysArgGlnProAspGlyProLeuGlyProLeuTyrAlaSerSerAsnProGluTyrLeuSerAlaSerAspValPheProCysSerValTyrValProAspGluTrpGluValSerArgGluLysIleThrLeuLeuArgGluLeuGlyGlnGlySerPheGlyMetValTyrGluGlyAsnAlaArgAspIleIleLysGlyGluAlaGluThrArgValAlaValLysThrValAsnGluSerAlaSerLeuArgGluArgIleGluPheLeuAsnGluAlaSerValMetLysGlyPheThrCysHisHisValValArgLeuLeuGlyValValSerLysGlyGlnProThrLeuValValMetGluLeuMetAlaHisGlyAspLeuLysSerTyrLeuArgSerLeuArgProGluAlaGluAsnAsnProGlyArgProProProThrLeuGlnGluMetIleGlnMetAlaAlaGluIleAlaAspGlyMetAlaTyrLeuAsnAlaLysLysPheValHisArgAspLeuAlaAlaArgAsnCysMetValAlaHisAspPheThrValLysIleGlyAspPheGlyMetThrArgAspIleTyrGluThrAspTyrTyrArgLysGlyGlyLysGlyLeuLeuProValArgTrpMetAlaProGluSerLeuLysAspGlyValPheThrThrSerSerAspMetTrpSerPheGlyValValLeuTrpGluIleThrSerLeuAlaGluGlnProTyrGlnGlyLeuSerAsnGluGlnValLeuLysPheValMetAspGlyGlyTyrLeuAspGlnProAspAsnCysProGluArgValThrAspLeuMetArgMetCysTrpGlnPheAsnProLysMetArgProThrPheLeuGluIleValAsnLeuLeuLysAspAspLeuHisProSerPheProGluValSerPhePheHisSerGluGluAsnLysAlaProGluSerGluGluLeuGluMetGluPheGluAspMetGluAsnValProLeuAspArgSerSerHisCysGlnArgGluGluAlaGlyGlyArgAspGlyGlySerSerLeuGlyPheLysArgSerTyrGluGluHisIleProTyrThrHisMetAsnGlyGlyLysLysAsnGlyArgIleLeuThrLeuProArgSerAsnProSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676224"
    }
  ],
  "type": "nucleotide"
}