{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16040711",
  "communityStandardTitle": [
    "NM_000478.6(ALPL):c.46_49del (p.Asn16ProfsTer2)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=357053[alleleid]",
        "alleleId": 357053,
        "preferredName": "NM_000478.6(ALPL):c.46_49del (p.Asn16fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/370095",
        "RCV": [
          "RCV000411162",
          "RCV000584822",
          "RCV001255507",
          "RCV003556373"
        ],
        "variationId": 370095
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.21880620_21880623del?assembly=hg19",
        "id": "chr1:g.21880620_21880623del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.21554127_21554130del?assembly=hg38",
        "id": "chr1:g.21554127_21554130del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057516230",
        "rs": 1057516230
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "",
          "end": 21554130,
          "referenceAllele": "AACT",
          "start": 21554126
        }
      ],
      "hgvs": [
        "NC_000001.11:g.21554127_21554130del",
        "CM000663.2:g.21554127_21554130del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "",
          "end": 21880623,
          "referenceAllele": "AACT",
          "start": 21880619
        }
      ],
      "hgvs": [
        "NC_000001.10:g.21880620_21880623del",
        "CM000663.1:g.21880620_21880623del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "",
          "end": 21753210,
          "referenceAllele": "AACT",
          "start": 21753206
        }
      ],
      "hgvs": [
        "NC_000001.9:g.21753207_21753210del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 49766,
          "referenceAllele": "AACT",
          "start": 49762
        }
      ],
      "hgvs": [
        "NG_008940.1:g.49763_49766del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001318"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 248,
          "referenceAllele": "AACT",
          "start": 244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "ENST00000374840.8:c.46_49del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363973.3:p.Asn16ProfsTer2",
        "hgvsWellDefined": "ENSP00000363973.3:p.[Asn16_Val19del;Glu21_Leu46del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751506",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374840.8:c.46_49del"
          },
          "RefSeq": {
            "hgvs": "NM_000478.6:c.46_49del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363973.3:p.Asn16ProfsTer2"
          },
          "RefSeq": {
            "hgvs": "NP_000469.3:p.Asn16ProfsTer2"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 303,
          "referenceAllele": "AACT",
          "start": 299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "ENST00000374832.5:c.46_49del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363965.1:p.Asn16ProfsTer2",
        "hgvsWellDefined": "ENSP00000363965.1:p.[Asn16_Val19del;Glu21_Leu46del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270440"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 299,
          "referenceAllele": "AACT",
          "start": 295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "ENST00000374840.7:c.46_49del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363973.3:p.Asn16ProfsTer2",
        "hgvsWellDefined": "ENSP00000363973.3:p.[Asn16_Val19del;Glu21_Leu46del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270443"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 121,
          "endIntronDirection": "-",
          "endIntronOffset": 6495,
          "referenceAllele": "AACT",
          "start": 121,
          "startIntronDirection": "-",
          "startIntronOffset": 6499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "ENST00000468526.1:n.122-6499_122-6496del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS311421"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 92,
          "endIntronDirection": "-",
          "endIntronOffset": 6495,
          "referenceAllele": "AACT",
          "start": 92,
          "startIntronDirection": "-",
          "startIntronOffset": 6499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "ENST00000539907.5:c.-54-6499_-54-6496del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437674.1:n.-54-6499_-54-6496del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362119"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 90,
          "endIntronDirection": "-",
          "endIntronOffset": 6495,
          "referenceAllele": "AACT",
          "start": 90,
          "startIntronDirection": "-",
          "startIntronOffset": 6499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "ENST00000540617.5:c.-104-6499_-104-6496del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442672.1:n.-104-6499_-104-6496del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362498"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 306,
          "referenceAllele": "AACT",
          "start": 302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_000478.4:c.46_49del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000469.3:p.Asn16ProfsTer2",
        "hgvsWellDefined": "NP_000469.3:p.[Asn16_Val19del;Glu21_Leu46del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006532"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 153,
          "endIntronDirection": "-",
          "endIntronOffset": 6495,
          "referenceAllele": "AACT",
          "start": 153,
          "startIntronDirection": "-",
          "startIntronOffset": 6499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_001127501.2:c.-104-6499_-104-6496del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120973.2:n.-104-6499_-104-6496del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011630"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 153,
          "endIntronDirection": "-",
          "endIntronOffset": 6495,
          "referenceAllele": "AACT",
          "start": 153,
          "startIntronDirection": "-",
          "startIntronOffset": 6499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_001177520.1:c.-54-6499_-54-6496del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001170991.1:n.-54-6499_-54-6496del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015742"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 283,
          "referenceAllele": "AACT",
          "start": 279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "XM_005245818.1:c.46_49del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245875.1:p.Asn16ProfsTer2",
        "hgvsWellDefined": "XP_005245875.1:p.[Asn16_Val19del;Glu21_Leu46del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057389"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 245,
          "referenceAllele": "AACT",
          "start": 241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "XM_005245820.2:c.46_49del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245877.1:p.Asn16ProfsTer2",
        "hgvsWellDefined": "XP_005245877.1:p.[Asn16_Val19del;Glu21_Leu46del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057390"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 268,
          "referenceAllele": "AACT",
          "start": 264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "XM_006710546.1:c.46_49del"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710609.1:p.Asn16ProfsTer2",
        "hgvsWellDefined": "XP_006710609.1:p.[Asn16_Val19del;Glu21_Leu46del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068677"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 313,
          "referenceAllele": "AACT",
          "start": 309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_000478.5:c.46_49del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000469.3:p.Asn16ProfsTer2",
        "hgvsWellDefined": "NP_000469.3:p.[Asn16_Val19del;Glu21_Leu46del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510798"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 160,
          "endIntronDirection": "-",
          "endIntronOffset": 6495,
          "referenceAllele": "AACT",
          "start": 160,
          "startIntronDirection": "-",
          "startIntronOffset": 6499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_001127501.3:c.-104-6499_-104-6496del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120973.2:n.-104-6499_-104-6496del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511411"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 160,
          "endIntronDirection": "-",
          "endIntronOffset": 6495,
          "referenceAllele": "AACT",
          "start": 160,
          "startIntronDirection": "-",
          "startIntronOffset": 6499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_001177520.2:c.-54-6499_-54-6496del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001170991.1:n.-54-6499_-54-6496del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511739"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 262,
          "referenceAllele": "AACT",
          "start": 258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "XM_006710546.3:c.46_49del"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710609.1:p.Asn16ProfsTer2",
        "hgvsWellDefined": "XP_006710609.1:p.[Asn16_Val19del;Glu21_Leu46del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537810"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 248,
          "referenceAllele": "AACT",
          "start": 244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_000478.6:c.46_49del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000469.3:p.Asn16ProfsTer2",
        "hgvsWellDefined": "NP_000469.3:p.[Asn16_Val19del;Glu21_Leu46del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662456",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374840.8:c.46_49del"
          },
          "RefSeq": {
            "hgvs": "NM_000478.6:c.46_49del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363973.3:p.Asn16ProfsTer2"
          },
          "RefSeq": {
            "hgvs": "NP_000469.3:p.Asn16ProfsTer2"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 95,
          "endIntronDirection": "-",
          "endIntronOffset": 6495,
          "referenceAllele": "AACT",
          "start": 95,
          "startIntronDirection": "-",
          "startIntronOffset": 6499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_001127501.4:c.-104-6499_-104-6496del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120973.2:n.-104-6499_-104-6496del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676900"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 95,
          "endIntronDirection": "-",
          "endIntronOffset": 6495,
          "referenceAllele": "AACT",
          "start": 95,
          "startIntronDirection": "-",
          "startIntronOffset": 6499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_001177520.3:c.-54-6499_-54-6496del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001170991.1:n.-54-6499_-54-6496del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678885"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 312,
          "referenceAllele": "AACT",
          "start": 308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_001369803.2:c.46_49del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356732.1:p.Asn16ProfsTer2",
        "hgvsWellDefined": "NP_001356732.1:p.[Asn16_Val19del;Glu21_Leu46del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691985"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 246,
          "referenceAllele": "AACT",
          "start": 242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_001369804.2:c.46_49del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356733.1:p.Asn16ProfsTer2",
        "hgvsWellDefined": "NP_001356733.1:p.[Asn16_Val19del;Glu21_Leu46del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691986"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 281,
          "referenceAllele": "AACT",
          "start": 277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NM_001369805.2:c.46_49del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356734.1:p.Asn16ProfsTer2",
        "hgvsWellDefined": "NP_001356734.1:p.[Asn16_Val19del;Glu21_Leu46del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691987"
    }
  ],
  "type": "nucleotide"
}