{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA658655619",
  "communityStandardTitle": [
    "NM_001497.4(B4GALT1):c.1031dup (p.Arg345LysfsTer6)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=31268[alleleid]",
        "alleleId": 31268,
        "preferredName": "NM_001497.4(B4GALT1):c.1031dup (p.Arg345fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/16229",
        "RCV": [
          "RCV000017616"
        ],
        "variationId": 16229
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.33113805dup?assembly=hg19",
        "id": "chr9:g.33113805dup"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.33113807dup?assembly=hg38",
        "id": "chr9:g.33113807dup"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1564035076",
        "rs": 1564035076
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 33113807,
          "referenceAllele": "",
          "start": 33113807
        }
      ],
      "hgvs": [
        "NC_000009.12:g.33113807dup",
        "CM000671.2:g.33113807dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 33113805,
          "referenceAllele": "",
          "start": 33113805
        }
      ],
      "hgvs": [
        "NC_000009.11:g.33113805dup",
        "CM000671.1:g.33113805dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 33103805,
          "referenceAllele": "",
          "start": 33103805
        }
      ],
      "hgvs": [
        "NC_000009.10:g.33103805dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 58552,
          "referenceAllele": "",
          "start": 58552
        }
      ],
      "hgvs": [
        "NG_008919.1:g.58552dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001297"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1198,
          "referenceAllele": "",
          "start": 1198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000924",
      "geneNCBI_id": 2683,
      "geneSymbol": "B4GALT1",
      "hgvs": [
        "ENST00000379731.5:c.1031dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369055.4:p.Arg345LysfsTer6",
        "hgvsWellDefined": "ENSP00000369055.4:p.[Arg345_Asp346del;Lys348_Asn349delinsArgGln;Pro351_Thr362del;Glu364_Ser373del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752276",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000379731.5:c.1031dup"
          },
          "RefSeq": {
            "hgvs": "NM_001497.4:c.1031dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000369055.4:p.Arg345LysfsTer6"
          },
          "RefSeq": {
            "hgvs": "NP_001488.2:p.Arg345LysfsTer6"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1218,
          "referenceAllele": "",
          "start": 1218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000924",
      "geneNCBI_id": 2683,
      "geneSymbol": "B4GALT1",
      "hgvs": [
        "ENST00000379731.4:c.1031dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369055.4:p.Arg345LysfsTer6",
        "hgvsWellDefined": "ENSP00000369055.4:p.[Arg345_Asp346del;Lys348_Asn349delinsArgGln;Pro351_Thr362del;Glu364_Ser373del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272626"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 835,
          "endIntronDirection": "-",
          "endIntronOffset": 9025,
          "referenceAllele": "",
          "start": 835,
          "startIntronDirection": "-",
          "startIntronOffset": 9025
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000924",
      "geneNCBI_id": 2683,
      "geneSymbol": "B4GALT1",
      "hgvs": [
        "ENST00000535206.5:c.649-9026dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440341.1:n.649-9026dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS359592"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1220,
          "referenceAllele": "",
          "start": 1220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000924",
      "geneNCBI_id": 2683,
      "geneSymbol": "B4GALT1",
      "hgvs": [
        "NM_001497.3:c.1031dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001488.2:p.Arg345LysfsTer6",
        "hgvsWellDefined": "NP_001488.2:p.[Arg345_Asp346del;Lys348_Asn349delinsArgGln;Pro351_Thr362del;Glu364_Ser373del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026869"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1065,
          "referenceAllele": "",
          "start": 1065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000924",
      "geneNCBI_id": 2683,
      "geneSymbol": "B4GALT1",
      "hgvs": [
        "XM_005251440.3:c.908dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251497.1:p.Arg304LysfsTer6",
        "hgvsWellDefined": "XP_005251497.1:p.[Arg304_Asp305del;Lys307_Asn308delinsArgGln;Pro310_Thr321del;Glu323_Ser332del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059545"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 936,
          "referenceAllele": "",
          "start": 936
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000924",
      "geneNCBI_id": 2683,
      "geneSymbol": "B4GALT1",
      "hgvs": [
        "XM_005251440.5:c.908dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251497.1:p.Arg304LysfsTer6",
        "hgvsWellDefined": "XP_005251497.1:p.[Arg304_Asp305del;Lys307_Asn308delinsArgGln;Pro310_Thr321del;Glu323_Ser332del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533604"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1021,
          "referenceAllele": "",
          "start": 1021
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000924",
      "geneNCBI_id": 2683,
      "geneSymbol": "B4GALT1",
      "hgvs": [
        "NM_001378495.1:c.992dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365424.1:p.Arg332LysfsTer6",
        "hgvsWellDefined": "NP_001365424.1:p.[Arg332_Asp333del;Lys335_Asn336delinsArgGln;Pro338_Thr349del;Glu351_Ser360del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721737"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1075,
          "referenceAllele": "",
          "start": 1075
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000924",
      "geneNCBI_id": 2683,
      "geneSymbol": "B4GALT1",
      "hgvs": [
        "NM_001378496.1:c.908dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365425.1:p.Arg304LysfsTer6",
        "hgvsWellDefined": "NP_001365425.1:p.[Arg304_Asp305del;Lys307_Asn308delinsArgGln;Pro310_Thr321del;Glu323_Ser332del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721738"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 815,
          "endIntronDirection": "-",
          "endIntronOffset": 9025,
          "referenceAllele": "",
          "start": 815,
          "startIntronDirection": "-",
          "startIntronOffset": 9025
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000924",
      "geneNCBI_id": 2683,
      "geneSymbol": "B4GALT1",
      "hgvs": [
        "NM_001378497.1:c.649-9026dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365426.1:n.649-9026dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721739"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1198,
          "referenceAllele": "",
          "start": 1198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000924",
      "geneNCBI_id": 2683,
      "geneSymbol": "B4GALT1",
      "hgvs": [
        "NM_001497.4:c.1031dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001488.2:p.Arg345LysfsTer6",
        "hgvsWellDefined": "NP_001488.2:p.[Arg345_Asp346del;Lys348_Asn349delinsArgGln;Pro351_Thr362del;Glu364_Ser373del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727187",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000379731.5:c.1031dup"
          },
          "RefSeq": {
            "hgvs": "NM_001497.4:c.1031dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000369055.4:p.Arg345LysfsTer6"
          },
          "RefSeq": {
            "hgvs": "NP_001488.2:p.Arg345LysfsTer6"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}