{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA119212",
  "communityStandardTitle": [
    "NM_001089.3(ABCA3):c.3426G>A (p.Trp1142Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=23050[alleleid]",
        "alleleId": 23050,
        "preferredName": "NM_001089.3(ABCA3):c.3426G>A (p.Trp1142Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/8011",
        "RCV": [
          "RCV000008475",
          "RCV003555974"
        ],
        "variationId": 8011
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.2335500C>T?assembly=hg19",
        "id": "chr16:g.2335500C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.2285499C>T?assembly=hg38",
        "id": "chr16:g.2285499C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121909181",
        "rs": 121909181
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-2285499-C-T?dataset=gnomad_r3",
        "id": "16-2285499-C-T",
        "variant": "16:2285499 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-2285499-C-T?dataset=gnomad_r4",
        "id": "16-2285499-C-T",
        "variant": "16:2285499 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 2285499,
          "referenceAllele": "C",
          "start": 2285498
        }
      ],
      "hgvs": [
        "NC_000016.10:g.2285499C>T",
        "CM000678.2:g.2285499C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 2335500,
          "referenceAllele": "C",
          "start": 2335499
        }
      ],
      "hgvs": [
        "NC_000016.9:g.2335500C>T",
        "CM000678.1:g.2335500C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 2275501,
          "referenceAllele": "C",
          "start": 2275500
        }
      ],
      "hgvs": [
        "NC_000016.8:g.2275501C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 60248,
          "referenceAllele": "G",
          "start": 60247
        }
      ],
      "hgvs": [
        "NG_011790.1:g.60248G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001972"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4120,
          "referenceAllele": "G",
          "start": 4119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000033",
      "geneNCBI_id": 21,
      "geneSymbol": "ABCA3",
      "hgvs": [
        "ENST00000301732.10:c.3426G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301732.5:p.Trp1142Ter",
        "hgvsWellDefined": "ENSP00000301732.5:p.Trp1142_Arg1704delinsLeuSerAlaLeuLeuTrpAspLeuIleSerPheLeuIleProSerLeuLeuLeuLeuValValPheLysAlaPheAspValArgAlaPheThrArgAspGlyHisMetAlaAspThrLeuLeuLeuLeuLeuLeuTyrGlyTrpAlaIleIleProLeuMetTyrLeuMetAsnPhePhePheLeuGlyAlaAlaThrAlaTyrThrArgLeuThrIlePheAsnIleLeuSerGlyIleAlaThrPheLeuMetValThrIleMetArgIleProAlaValLysLeuGluGluLeuSerLysThrLeuAspHisValPheLeuValLeuProAsnHisCysLeuGlyMetAlaValSerSerPheTyrGluAsnTyrGluThrArgArgTyrCysThrSerSerGluValAlaAlaHisTyrCysLysLysTyrAsnIleGlnTyrGlnGluAsnPheTyrAlaTrpSerAlaProGlyValGlyArgPheValAlaSerMetAlaAlaSerGlyCysAlaTyrLeuIleLeuLeuPheLeuIleGluThrAsnLeuLeuGlnArgLeuArgGlyIleLeuCysAlaLeuArgArgArgArgThrLeuThrGluLeuTyrThrArgMetProValLeuProGluAspGlnAspValAlaAspGluArgThrArgIleLeuAlaProSerProAspSerLeuLeuHisThrProLeuIleIleLysGluLeuSerLysValTyrGluGlnArgValProLeuLeuAlaValAspArgLeuSerLeuAlaValGlnLysGlyGluCysPheGlyLeuLeuGlyPheAsnGlyAlaGlyLysThrThrThrPheLysMetLeuThrGlyGluGluSerLeuThrSerGlyAspAlaPheValGlyGlyHisArgIleSerSerAspValGlyLysValArgGlnArgIleGlyTyrCysProGlnPheAspAlaLeuLeuAspHisMetThrGlyArgGluMetLeuValMetTyrAlaArgLeuArgGlyIleProGluArgHisIleGlyAlaCysValGluAsnThrLeuArgGlyLeuLeuLeuGluProHisAlaAsnLysLeuValArgThrTyrSerGlyGlyAsnLysArgLysLeuSerThrGlyIleAlaLeuIleGlyGluProAlaValIlePheLeuAspGluProSerThrGlyMetAspProValAlaArgArgLeuLeuTrpAspThrValAlaArgAlaArgGluSerGlyLysAlaIleIleIleThrSerHisSerMetGluGluCysGluAlaLeuCysThrArgLeuAlaIleMetValGlnGlyGlnPheLysCysLeuGlySerProGlnHisLeuLysSerLysPheGlySerGlyTyrSerLeuArgAlaLysValGlnSerGluGlyGlnGlnGluAlaLeuGluGluPheLysAlaPheValAspLeuThrPheProGlySerValLeuGluAspGluHisGlnGlyMetValHisTyrHisLeuProGlyArgAspLeuSerTrpAlaLysValPheGlyIleLeuGluLysAlaLysGluLysTyrGlyValAspAspTyrSerValSerGlnIleSerLeuGluGlnValPheLeuSerPheAlaHisLeuGlnProProThrAlaGluGluGlyArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744871",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000301732.10:c.3426G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001089.3:c.3426G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301732.5:p.Trp1142Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001080.2:p.Trp1142Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4127,
          "referenceAllele": "G",
          "start": 4126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000033",
      "geneNCBI_id": 21,
      "geneSymbol": "ABCA3",
      "hgvs": [
        "ENST00000301732.9:c.3426G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301732.5:p.Trp1142Ter",
        "hgvsWellDefined": "ENSP00000301732.5:p.Trp1142_Arg1704delinsLeuSerAlaLeuLeuTrpAspLeuIleSerPheLeuIleProSerLeuLeuLeuLeuValValPheLysAlaPheAspValArgAlaPheThrArgAspGlyHisMetAlaAspThrLeuLeuLeuLeuLeuLeuTyrGlyTrpAlaIleIleProLeuMetTyrLeuMetAsnPhePhePheLeuGlyAlaAlaThrAlaTyrThrArgLeuThrIlePheAsnIleLeuSerGlyIleAlaThrPheLeuMetValThrIleMetArgIleProAlaValLysLeuGluGluLeuSerLysThrLeuAspHisValPheLeuValLeuProAsnHisCysLeuGlyMetAlaValSerSerPheTyrGluAsnTyrGluThrArgArgTyrCysThrSerSerGluValAlaAlaHisTyrCysLysLysTyrAsnIleGlnTyrGlnGluAsnPheTyrAlaTrpSerAlaProGlyValGlyArgPheValAlaSerMetAlaAlaSerGlyCysAlaTyrLeuIleLeuLeuPheLeuIleGluThrAsnLeuLeuGlnArgLeuArgGlyIleLeuCysAlaLeuArgArgArgArgThrLeuThrGluLeuTyrThrArgMetProValLeuProGluAspGlnAspValAlaAspGluArgThrArgIleLeuAlaProSerProAspSerLeuLeuHisThrProLeuIleIleLysGluLeuSerLysValTyrGluGlnArgValProLeuLeuAlaValAspArgLeuSerLeuAlaValGlnLysGlyGluCysPheGlyLeuLeuGlyPheAsnGlyAlaGlyLysThrThrThrPheLysMetLeuThrGlyGluGluSerLeuThrSerGlyAspAlaPheValGlyGlyHisArgIleSerSerAspValGlyLysValArgGlnArgIleGlyTyrCysProGlnPheAspAlaLeuLeuAspHisMetThrGlyArgGluMetLeuValMetTyrAlaArgLeuArgGlyIleProGluArgHisIleGlyAlaCysValGluAsnThrLeuArgGlyLeuLeuLeuGluProHisAlaAsnLysLeuValArgThrTyrSerGlyGlyAsnLysArgLysLeuSerThrGlyIleAlaLeuIleGlyGluProAlaValIlePheLeuAspGluProSerThrGlyMetAspProValAlaArgArgLeuLeuTrpAspThrValAlaArgAlaArgGluSerGlyLysAlaIleIleIleThrSerHisSerMetGluGluCysGluAlaLeuCysThrArgLeuAlaIleMetValGlnGlyGlnPheLysCysLeuGlySerProGlnHisLeuLysSerLysPheGlySerGlyTyrSerLeuArgAlaLysValGlnSerGluGlyGlnGlnGluAlaLeuGluGluPheLysAlaPheValAspLeuThrPheProGlySerValLeuGluAspGluHisGlnGlyMetValHisTyrHisLeuProGlyArgAspLeuSerTrpAlaLysValPheGlyIleLeuGluLysAlaLysGluLysTyrGlyValAspAspTyrSerValSerGlnIleSerLeuGluGlnValPheLeuSerPheAlaHisLeuGlnProProThrAlaGluGluGlyArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255056"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3964,
          "referenceAllele": "G",
          "start": 3963
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000033",
      "geneNCBI_id": 21,
      "geneSymbol": "ABCA3",
      "hgvs": [
        "ENST00000382381.7:c.3252G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371818.3:p.Trp1084Ter",
        "hgvsWellDefined": "ENSP00000371818.3:p.Trp1084_Arg1646delinsLeuSerAlaLeuLeuTrpAspLeuIleSerPheLeuIleProSerLeuLeuLeuLeuValValPheLysAlaPheAspValArgAlaPheThrArgAspGlyHisMetAlaAspThrLeuLeuLeuLeuLeuLeuTyrGlyTrpAlaIleIleProLeuMetTyrLeuMetAsnPhePhePheLeuGlyAlaAlaThrAlaTyrThrArgLeuThrIlePheAsnIleLeuSerGlyIleAlaThrPheLeuMetValThrIleMetArgIleProAlaValLysLeuGluGluLeuSerLysThrLeuAspHisValPheLeuValLeuProAsnHisCysLeuGlyMetAlaValSerSerPheTyrGluAsnTyrGluThrArgArgTyrCysThrSerSerGluValAlaAlaHisTyrCysLysLysTyrAsnIleGlnTyrGlnGluAsnPheTyrAlaTrpSerAlaProGlyValGlyArgPheValAlaSerMetAlaAlaSerGlyCysAlaTyrLeuIleLeuLeuPheLeuIleGluThrAsnLeuLeuGlnArgLeuArgGlyIleLeuCysAlaLeuArgArgArgArgThrLeuThrGluLeuTyrThrArgMetProValLeuProGluAspGlnAspValAlaAspGluArgThrArgIleLeuAlaProSerProAspSerLeuLeuHisThrProLeuIleIleLysGluLeuSerLysValTyrGluGlnArgValProLeuLeuAlaValAspArgLeuSerLeuAlaValGlnLysGlyGluCysPheGlyLeuLeuGlyPheAsnGlyAlaGlyLysThrThrThrPheLysMetLeuThrGlyGluGluSerLeuThrSerGlyAspAlaPheValGlyGlyHisArgIleSerSerAspValGlyLysValArgGlnArgIleGlyTyrCysProGlnPheAspAlaLeuLeuAspHisMetThrGlyArgGluMetLeuValMetTyrAlaArgLeuArgGlyIleProGluArgHisIleGlyAlaCysValGluAsnThrLeuArgGlyLeuLeuLeuGluProHisAlaAsnLysLeuValArgThrTyrSerGlyGlyAsnLysArgLysLeuSerThrGlyIleAlaLeuIleGlyGluProAlaValIlePheLeuAspGluProSerThrGlyMetAspProValAlaArgArgLeuLeuTrpAspThrValAlaArgAlaArgGluSerGlyLysAlaIleIleIleThrSerHisSerMetGluGluCysGluAlaLeuCysThrArgLeuAlaIleMetValGlnGlyGlnPheLysCysLeuGlySerProGlnHisLeuLysSerLysPheGlySerGlyTyrSerLeuArgAlaLysValGlnSerGluGlyGlnGlnGluAlaLeuGluGluPheLysAlaPheValAspLeuThrPheProGlySerValLeuGluAspGluHisGlnGlyMetValHisTyrHisLeuProGlyArgAspLeuSerTrpAlaLysValPheGlyIleLeuGluLysAlaLysGluLysTyrGlyValAspAspTyrSerValSerGlnIleSerLeuGluGlnValPheLeuSerPheAlaHisLeuGlnProProThrAlaGluGluGlyArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273724"
    },
    {
      "@id": "http://reg.genome.network/allele/PA119213",
      "coordinates": [
        {
          "allele": "A",
          "end": 4138,
          "referenceAllele": "G",
          "start": 4137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000033",
      "geneNCBI_id": 21,
      "geneSymbol": "ABCA3",
      "hgvs": [
        "NM_001089.2:c.3426G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001080.2:p.Trp1142Ter",
        "hgvsWellDefined": "NP_001080.2:p.Trp1142_Arg1704delinsLeuSerAlaLeuLeuTrpAspLeuIleSerPheLeuIleProSerLeuLeuLeuLeuValValPheLysAlaPheAspValArgAlaPheThrArgAspGlyHisMetAlaAspThrLeuLeuLeuLeuLeuLeuTyrGlyTrpAlaIleIleProLeuMetTyrLeuMetAsnPhePhePheLeuGlyAlaAlaThrAlaTyrThrArgLeuThrIlePheAsnIleLeuSerGlyIleAlaThrPheLeuMetValThrIleMetArgIleProAlaValLysLeuGluGluLeuSerLysThrLeuAspHisValPheLeuValLeuProAsnHisCysLeuGlyMetAlaValSerSerPheTyrGluAsnTyrGluThrArgArgTyrCysThrSerSerGluValAlaAlaHisTyrCysLysLysTyrAsnIleGlnTyrGlnGluAsnPheTyrAlaTrpSerAlaProGlyValGlyArgPheValAlaSerMetAlaAlaSerGlyCysAlaTyrLeuIleLeuLeuPheLeuIleGluThrAsnLeuLeuGlnArgLeuArgGlyIleLeuCysAlaLeuArgArgArgArgThrLeuThrGluLeuTyrThrArgMetProValLeuProGluAspGlnAspValAlaAspGluArgThrArgIleLeuAlaProSerProAspSerLeuLeuHisThrProLeuIleIleLysGluLeuSerLysValTyrGluGlnArgValProLeuLeuAlaValAspArgLeuSerLeuAlaValGlnLysGlyGluCysPheGlyLeuLeuGlyPheAsnGlyAlaGlyLysThrThrThrPheLysMetLeuThrGlyGluGluSerLeuThrSerGlyAspAlaPheValGlyGlyHisArgIleSerSerAspValGlyLysValArgGlnArgIleGlyTyrCysProGlnPheAspAlaLeuLeuAspHisMetThrGlyArgGluMetLeuValMetTyrAlaArgLeuArgGlyIleProGluArgHisIleGlyAlaCysValGluAsnThrLeuArgGlyLeuLeuLeuGluProHisAlaAsnLysLeuValArgThrTyrSerGlyGlyAsnLysArgLysLeuSerThrGlyIleAlaLeuIleGlyGluProAlaValIlePheLeuAspGluProSerThrGlyMetAspProValAlaArgArgLeuLeuTrpAspThrValAlaArgAlaArgGluSerGlyLysAlaIleIleIleThrSerHisSerMetGluGluCysGluAlaLeuCysThrArgLeuAlaIleMetValGlnGlyGlnPheLysCysLeuGlySerProGlnHisLeuLysSerLysPheGlySerGlyTyrSerLeuArgAlaLysValGlnSerGluGlyGlnGlnGluAlaLeuGluGluPheLysAlaPheValAspLeuThrPheProGlySerValLeuGluAspGluHisGlnGlyMetValHisTyrHisLeuProGlyArgAspLeuSerTrpAlaLysValPheGlyIleLeuGluLysAlaLysGluLysTyrGlyValAspAspTyrSerValSerGlnIleSerLeuGluGlnValPheLeuSerPheAlaHisLeuGlnProProThrAlaGluGluGlyArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010497"
    },
    {
      "@id": "http://reg.genome.network/allele/PA119213",
      "coordinates": [
        {
          "allele": "A",
          "end": 4120,
          "referenceAllele": "G",
          "start": 4119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000033",
      "geneNCBI_id": 21,
      "geneSymbol": "ABCA3",
      "hgvs": [
        "NM_001089.3:c.3426G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001080.2:p.Trp1142Ter",
        "hgvsWellDefined": "NP_001080.2:p.Trp1142_Arg1704delinsLeuSerAlaLeuLeuTrpAspLeuIleSerPheLeuIleProSerLeuLeuLeuLeuValValPheLysAlaPheAspValArgAlaPheThrArgAspGlyHisMetAlaAspThrLeuLeuLeuLeuLeuLeuTyrGlyTrpAlaIleIleProLeuMetTyrLeuMetAsnPhePhePheLeuGlyAlaAlaThrAlaTyrThrArgLeuThrIlePheAsnIleLeuSerGlyIleAlaThrPheLeuMetValThrIleMetArgIleProAlaValLysLeuGluGluLeuSerLysThrLeuAspHisValPheLeuValLeuProAsnHisCysLeuGlyMetAlaValSerSerPheTyrGluAsnTyrGluThrArgArgTyrCysThrSerSerGluValAlaAlaHisTyrCysLysLysTyrAsnIleGlnTyrGlnGluAsnPheTyrAlaTrpSerAlaProGlyValGlyArgPheValAlaSerMetAlaAlaSerGlyCysAlaTyrLeuIleLeuLeuPheLeuIleGluThrAsnLeuLeuGlnArgLeuArgGlyIleLeuCysAlaLeuArgArgArgArgThrLeuThrGluLeuTyrThrArgMetProValLeuProGluAspGlnAspValAlaAspGluArgThrArgIleLeuAlaProSerProAspSerLeuLeuHisThrProLeuIleIleLysGluLeuSerLysValTyrGluGlnArgValProLeuLeuAlaValAspArgLeuSerLeuAlaValGlnLysGlyGluCysPheGlyLeuLeuGlyPheAsnGlyAlaGlyLysThrThrThrPheLysMetLeuThrGlyGluGluSerLeuThrSerGlyAspAlaPheValGlyGlyHisArgIleSerSerAspValGlyLysValArgGlnArgIleGlyTyrCysProGlnPheAspAlaLeuLeuAspHisMetThrGlyArgGluMetLeuValMetTyrAlaArgLeuArgGlyIleProGluArgHisIleGlyAlaCysValGluAsnThrLeuArgGlyLeuLeuLeuGluProHisAlaAsnLysLeuValArgThrTyrSerGlyGlyAsnLysArgLysLeuSerThrGlyIleAlaLeuIleGlyGluProAlaValIlePheLeuAspGluProSerThrGlyMetAspProValAlaArgArgLeuLeuTrpAspThrValAlaArgAlaArgGluSerGlyLysAlaIleIleIleThrSerHisSerMetGluGluCysGluAlaLeuCysThrArgLeuAlaIleMetValGlnGlyGlnPheLysCysLeuGlySerProGlnHisLeuLysSerLysPheGlySerGlyTyrSerLeuArgAlaLysValGlnSerGluGlyGlnGlnGluAlaLeuGluGluPheLysAlaPheValAspLeuThrPheProGlySerValLeuGluAspGluHisGlnGlyMetValHisTyrHisLeuProGlyArgAspLeuSerTrpAlaLysValPheGlyIleLeuGluLysAlaLysGluLysTyrGlyValAspAspTyrSerValSerGlnIleSerLeuGluGlnValPheLeuSerPheAlaHisLeuGlnProProThrAlaGluGluGlyArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663365",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000301732.10:c.3426G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001089.3:c.3426G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301732.5:p.Trp1142Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001080.2:p.Trp1142Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}