{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA397394182",
  "communityStandardTitle": [
    "NM_014336.5(AIPL1):c.1142C>A (p.Ser381Ter)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.6328793G>T?assembly=hg19",
        "id": "chr17:g.6328793G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.6425473G>T?assembly=hg38",
        "id": "chr17:g.6425473G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/777796745",
        "rs": 777796745
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-6425473-G-T?dataset=gnomad_r4",
        "id": "17-6425473-G-T",
        "variant": "17:6425473 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 6425473,
          "referenceAllele": "G",
          "start": 6425472
        }
      ],
      "hgvs": [
        "NC_000017.11:g.6425473G>T",
        "CM000679.2:g.6425473G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 6328793,
          "referenceAllele": "G",
          "start": 6328792
        }
      ],
      "hgvs": [
        "NC_000017.10:g.6328793G>T",
        "CM000679.1:g.6328793G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 6269517,
          "referenceAllele": "G",
          "start": 6269516
        }
      ],
      "hgvs": [
        "NC_000017.9:g.6269517G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 14727,
          "referenceAllele": "C",
          "start": 14726
        }
      ],
      "hgvs": [
        "NG_008474.1:g.14727C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001113"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1159,
          "referenceAllele": "C",
          "start": 1158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000359",
      "geneNCBI_id": 23746,
      "geneSymbol": "AIPL1",
      "hgvs": [
        "ENST00000381129.8:c.1142C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000370521.3:p.Ser381Ter",
        "hgvsWellDefined": "ENSP00000370521.3:p.Ser381_His384delinsLeuGlnHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752490",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000381129.8:c.1142C>A"
          },
          "RefSeq": {
            "hgvs": "NM_014336.5:c.1142C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000370521.3:p.Ser381Ter"
          },
          "RefSeq": {
            "hgvs": "NP_055151.3:p.Ser381Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1048,
          "referenceAllele": "C",
          "start": 1047
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000359",
      "geneNCBI_id": 23746,
      "geneSymbol": "AIPL1",
      "hgvs": [
        "ENST00000250087.9:c.953C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000250087.5:p.Ser318Ter",
        "hgvsWellDefined": "ENSP00000250087.5:p.Ser318_His321delinsLeuGlnHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249651"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1228,
          "referenceAllele": "C",
          "start": 1227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000359",
      "geneNCBI_id": 23746,
      "geneSymbol": "AIPL1",
      "hgvs": [
        "ENST00000381128.2:c.*1014C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000370520.2:n.*1014C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273227"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1223,
          "referenceAllele": "C",
          "start": 1222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000359",
      "geneNCBI_id": 23746,
      "geneSymbol": "AIPL1",
      "hgvs": [
        "ENST00000381129.7:c.1142C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000370521.3:p.Ser381Ter",
        "hgvsWellDefined": "ENSP00000370521.3:p.Ser381_His384delinsLeuGlnHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273228"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1124,
          "referenceAllele": "C",
          "start": 1123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000359",
      "geneNCBI_id": 23746,
      "geneSymbol": "AIPL1",
      "hgvs": [
        "ENST00000570466.5:c.1076C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461287.1:p.Ser359Ter",
        "hgvsWellDefined": "ENSP00000461287.1:p.Ser359_His362delinsLeuGlnHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS382102"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 251,
          "endIntronDirection": "+",
          "endIntronOffset": 8446,
          "referenceAllele": "C",
          "start": 251,
          "startIntronDirection": "+",
          "startIntronOffset": 8445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000359",
      "geneNCBI_id": 23746,
      "geneSymbol": "AIPL1",
      "hgvs": [
        "ENST00000570584.5:c.251+8446C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS382153"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1135,
          "referenceAllele": "C",
          "start": 1134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000359",
      "geneNCBI_id": 23746,
      "geneSymbol": "AIPL1",
      "hgvs": [
        "ENST00000574506.5:c.1106C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000458456.1:p.Ser369Ter",
        "hgvsWellDefined": "ENSP00000458456.1:p.Ser369_His372delinsLeuGlnHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS383714"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1943,
          "referenceAllele": "C",
          "start": 1942
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000359",
      "geneNCBI_id": 23746,
      "geneSymbol": "AIPL1",
      "hgvs": [
        "ENST00000575265.5:c.*1113C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000459673.1:n.*1113C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS384047"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1010,
          "referenceAllele": "C",
          "start": 1009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000359",
      "geneNCBI_id": 23746,
      "geneSymbol": "AIPL1",
      "hgvs": [
        "ENST00000576307.5:c.962C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000459522.1:p.Ser321Ter",
        "hgvsWellDefined": "ENSP00000459522.1:p.Ser321_His324delinsLeuGlnHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS384428"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1118,
          "referenceAllele": "C",
          "start": 1117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000359",
      "geneNCBI_id": 23746,
      "geneSymbol": "AIPL1",
      "hgvs": [
        "ENST00000576776.5:c.1070C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460827.1:p.Ser357Ter",
        "hgvsWellDefined": "ENSP00000460827.1:p.Ser357_His360delinsLeuGlnHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS384601"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1155,
          "referenceAllele": "C",
          "start": 1154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000359",
      "geneNCBI_id": 23746,
      "geneSymbol": "AIPL1",
      "hgvs": [
        "ENST00000621374.4:c.*160C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481337.1:n.*160C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405242"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1048,
          "referenceAllele": "C",
          "start": 1047
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000359",
      "geneNCBI_id": 23746,
      "geneSymbol": "AIPL1",
      "hgvs": [
        "NM_001033054.2:c.953C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001028226.1:p.Ser318Ter",
        "hgvsWellDefined": "NP_001028226.1:p.Ser318_His321delinsLeuGlnHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009109"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1057,
          "referenceAllele": "C",
          "start": 1056
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000359",
      "geneNCBI_id": 23746,
      "geneSymbol": "AIPL1",
      "hgvs": [
        "NM_001033055.2:c.962C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001028227.1:p.Ser321Ter",
        "hgvsWellDefined": "NP_001028227.1:p.Ser321_His324delinsLeuGlnHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009110"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1201,
          "referenceAllele": "C",
          "start": 1200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000359",
      "geneNCBI_id": 23746,
      "geneSymbol": "AIPL1",
      "hgvs": [
        "NM_001285399.2:c.1106C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001272328.1:p.Ser369Ter",
        "hgvsWellDefined": "NP_001272328.1:p.Ser369_His372delinsLeuGlnHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022667"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1171,
          "referenceAllele": "C",
          "start": 1170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000359",
      "geneNCBI_id": 23746,
      "geneSymbol": "AIPL1",
      "hgvs": [
        "NM_001285400.2:c.1076C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001272329.1:p.Ser359Ter",
        "hgvsWellDefined": "NP_001272329.1:p.Ser359_His362delinsLeuGlnHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022668"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1165,
          "referenceAllele": "C",
          "start": 1164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000359",
      "geneNCBI_id": 23746,
      "geneSymbol": "AIPL1",
      "hgvs": [
        "NM_001285401.2:c.1070C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001272330.1:p.Ser357Ter",
        "hgvsWellDefined": "NP_001272330.1:p.Ser357_His360delinsLeuGlnHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022669"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1228,
          "referenceAllele": "C",
          "start": 1227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000359",
      "geneNCBI_id": 23746,
      "geneSymbol": "AIPL1",
      "hgvs": [
        "NM_001285402.1:c.1025C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001272331.1:p.Ser342Ter",
        "hgvsWellDefined": "NP_001272331.1:p.Ser342_His345delinsLeuGlnHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022670"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3084427941",
      "coordinates": [
        {
          "allele": "A",
          "end": 1237,
          "referenceAllele": "C",
          "start": 1236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000359",
      "geneNCBI_id": 23746,
      "geneSymbol": "AIPL1",
      "hgvs": [
        "NM_014336.4:c.1142C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_055151.3:p.Ser381Ter",
        "hgvsWellDefined": "NP_055151.3:p.Ser381_His384delinsLeuGlnHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033093"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 970,
          "referenceAllele": "C",
          "start": 969
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000359",
      "geneNCBI_id": 23746,
      "geneSymbol": "AIPL1",
      "hgvs": [
        "NM_001033054.3:c.953C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001028226.1:p.Ser318Ter",
        "hgvsWellDefined": "NP_001028226.1:p.Ser318_His321delinsLeuGlnHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675781"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 979,
          "referenceAllele": "C",
          "start": 978
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000359",
      "geneNCBI_id": 23746,
      "geneSymbol": "AIPL1",
      "hgvs": [
        "NM_001033055.3:c.962C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001028227.1:p.Ser321Ter",
        "hgvsWellDefined": "NP_001028227.1:p.Ser321_His324delinsLeuGlnHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675782"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1123,
          "referenceAllele": "C",
          "start": 1122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000359",
      "geneNCBI_id": 23746,
      "geneSymbol": "AIPL1",
      "hgvs": [
        "NM_001285399.3:c.1106C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001272328.1:p.Ser369Ter",
        "hgvsWellDefined": "NP_001272328.1:p.Ser369_His372delinsLeuGlnHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682110"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1093,
          "referenceAllele": "C",
          "start": 1092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000359",
      "geneNCBI_id": 23746,
      "geneSymbol": "AIPL1",
      "hgvs": [
        "NM_001285400.3:c.1076C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001272329.1:p.Ser359Ter",
        "hgvsWellDefined": "NP_001272329.1:p.Ser359_His362delinsLeuGlnHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682111"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1087,
          "referenceAllele": "C",
          "start": 1086
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000359",
      "geneNCBI_id": 23746,
      "geneSymbol": "AIPL1",
      "hgvs": [
        "NM_001285401.3:c.1070C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001272330.1:p.Ser357Ter",
        "hgvsWellDefined": "NP_001272330.1:p.Ser357_His360delinsLeuGlnHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682112"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1217,
          "referenceAllele": "C",
          "start": 1216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000359",
      "geneNCBI_id": 23746,
      "geneSymbol": "AIPL1",
      "hgvs": [
        "NM_001285402.2:c.1025C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001272331.1:p.Ser342Ter",
        "hgvsWellDefined": "NP_001272331.1:p.Ser342_His345delinsLeuGlnHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682113"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1919,
          "referenceAllele": "C",
          "start": 1918
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000359",
      "geneNCBI_id": 23746,
      "geneSymbol": "AIPL1",
      "hgvs": [
        "NM_001285403.3:c.*1113C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001272332.1:n.*1113C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682114"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3084427941",
      "coordinates": [
        {
          "allele": "A",
          "end": 1159,
          "referenceAllele": "C",
          "start": 1158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000359",
      "geneNCBI_id": 23746,
      "geneSymbol": "AIPL1",
      "hgvs": [
        "NM_014336.5:c.1142C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_055151.3:p.Ser381Ter",
        "hgvsWellDefined": "NP_055151.3:p.Ser381_His384delinsLeuGlnHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697229",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000381129.8:c.1142C>A"
          },
          "RefSeq": {
            "hgvs": "NM_014336.5:c.1142C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000370521.3:p.Ser381Ter"
          },
          "RefSeq": {
            "hgvs": "NP_055151.3:p.Ser381Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1919,
          "referenceAllele": "C",
          "start": 1918
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000359",
      "geneNCBI_id": 23746,
      "geneSymbol": "AIPL1",
      "hgvs": [
        "NM_001285403.4:c.*1113C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001272332.1:n.*1113C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716093"
    }
  ],
  "type": "nucleotide"
}