{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA273932",
  "communityStandardTitle": [
    "NM_000153.4(GALC):c.955del (p.Tyr319MetfsTer6)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=186918[alleleid]",
        "alleleId": 186918,
        "preferredName": "NM_000153.4(GALC):c.955del (p.Tyr319fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/188767",
        "RCV": [
          "RCV000169089",
          "RCV000255073"
        ],
        "variationId": 188767
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.88431927del?assembly=hg19",
        "id": "chr14:g.88431927del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.87965583del?assembly=hg38",
        "id": "chr14:g.87965583del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/786204454",
        "rs": 786204454
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-88431926-TA-T?dataset=gnomad_r2_1",
        "id": "14-88431926-TA-T",
        "variant": "14:88431926 TA / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-87965582-TA-T?dataset=gnomad_r4",
        "id": "14-87965582-TA-T",
        "variant": "14:87965582 TA / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "",
          "end": 87965584,
          "referenceAllele": "A",
          "start": 87965583
        }
      ],
      "hgvs": [
        "NC_000014.9:g.87965584del",
        "CM000676.2:g.87965584del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "",
          "end": 88431928,
          "referenceAllele": "A",
          "start": 88431927
        }
      ],
      "hgvs": [
        "NC_000014.8:g.88431928del",
        "CM000676.1:g.88431928del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "",
          "end": 87501681,
          "referenceAllele": "A",
          "start": 87501680
        }
      ],
      "hgvs": [
        "NC_000014.7:g.87501681del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 32981,
          "referenceAllele": "T",
          "start": 32980
        }
      ],
      "hgvs": [
        "NG_011853.2:g.32981del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002031"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 32981,
          "referenceAllele": "T",
          "start": 32980
        }
      ],
      "hgvs": [
        "NG_011853.3:g.32981del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706106"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 973,
          "referenceAllele": "T",
          "start": 972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004115",
      "geneNCBI_id": 2581,
      "geneSymbol": "GALC",
      "hgvs": [
        "ENST00000261304.7:c.955del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261304.2:p.Tyr319MetfsTer6",
        "hgvsWellDefined": "ENSP00000261304.2:p.[Tyr319Met;Arg321_Thr326delinsAsp;Gln328_Ser332del;His334_Thr348del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742114",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261304.7:c.955del"
          },
          "RefSeq": {
            "hgvs": "NM_000153.4:c.955del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261304.2:p.Tyr319MetfsTer6"
          },
          "RefSeq": {
            "hgvs": "NP_000144.2:p.Tyr319MetfsTer6"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1062,
          "referenceAllele": "T",
          "start": 1061
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004115",
      "geneNCBI_id": 2581,
      "geneSymbol": "GALC",
      "hgvs": [
        "ENST00000261304.6:c.955del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261304.2:p.Tyr319MetfsTer6",
        "hgvsWellDefined": "ENSP00000261304.2:p.[Tyr319Met;Arg321_Thr326delinsAsp;Gln328_Ser332del;His334_Thr348del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250712"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 900,
          "referenceAllele": "T",
          "start": 899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004115",
      "geneNCBI_id": 2581,
      "geneSymbol": "GALC",
      "hgvs": [
        "ENST00000393568.8:c.886del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377198.4:p.Tyr296MetfsTer6",
        "hgvsWellDefined": "ENSP00000377198.4:p.[Tyr296Met;Arg298_Thr303delinsAsp;Gln305_Ser309del;His311_Thr325del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275696"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1043,
          "referenceAllele": "T",
          "start": 1042
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004115",
      "geneNCBI_id": 2581,
      "geneSymbol": "GALC",
      "hgvs": [
        "ENST00000393569.6:c.877del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377199.2:p.Tyr293MetfsTer6",
        "hgvsWellDefined": "ENSP00000377199.2:p.[Tyr293Met;Arg295_Thr300delinsAsp;Gln302_Ser306del;His308_Thr322del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275697"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 945,
          "referenceAllele": "T",
          "start": 944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004115",
      "geneNCBI_id": 2581,
      "geneSymbol": "GALC",
      "hgvs": [
        "ENST00000474294.6:n.945del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS315838"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1295,
          "referenceAllele": "T",
          "start": 1294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004115",
      "geneNCBI_id": 2581,
      "geneSymbol": "GALC",
      "hgvs": [
        "ENST00000544807.6:c.787del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437513.2:p.Tyr263MetfsTer6",
        "hgvsWellDefined": "ENSP00000437513.2:p.[Tyr263Met;Arg265_Thr270delinsAsp;Gln272_Ser276del;His278_Thr292del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364761"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 478,
          "referenceAllele": "T",
          "start": 477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004115",
      "geneNCBI_id": 2581,
      "geneSymbol": "GALC",
      "hgvs": [
        "ENST00000555000.5:c.322del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450472.1:p.Tyr108MetfsTer6",
        "hgvsWellDefined": "ENSP00000450472.1:p.[Tyr108Met;Arg110_Thr115delinsAsp;Gln117_Ser121del;His123_Thr137del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS371079"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 995,
          "referenceAllele": "T",
          "start": 994
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004115",
      "geneNCBI_id": 2581,
      "geneSymbol": "GALC",
      "hgvs": [
        "ENST00000557316.5:c.*353del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452314.1:n.*353del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS372927"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 41,
          "referenceAllele": "T",
          "start": 40
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004115",
      "geneNCBI_id": 2581,
      "geneSymbol": "GALC",
      "hgvs": [
        "ENST00000557520.1:n.41del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS373099"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 945,
          "referenceAllele": "T",
          "start": 944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004115",
      "geneNCBI_id": 2581,
      "geneSymbol": "GALC",
      "hgvs": [
        "ENST00000622264.4:c.945del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS405647"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1062,
          "referenceAllele": "T",
          "start": 1061
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004115",
      "geneNCBI_id": 2581,
      "geneSymbol": "GALC",
      "hgvs": [
        "NM_000153.3:c.955del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000144.2:p.Tyr319MetfsTer6",
        "hgvsWellDefined": "NP_000144.2:p.[Tyr319Met;Arg321_Thr326delinsAsp;Gln328_Ser332del;His334_Thr348del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006215"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 993,
          "referenceAllele": "T",
          "start": 992
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004115",
      "geneNCBI_id": 2581,
      "geneSymbol": "GALC",
      "hgvs": [
        "NM_001201401.1:c.886del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001188330.1:p.Tyr296MetfsTer6",
        "hgvsWellDefined": "NP_001188330.1:p.[Tyr296Met;Arg298_Thr303delinsAsp;Gln305_Ser309del;His311_Thr325del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017332"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1043,
          "referenceAllele": "T",
          "start": 1042
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004115",
      "geneNCBI_id": 2581,
      "geneSymbol": "GALC",
      "hgvs": [
        "NM_001201402.1:c.877del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001188331.1:p.Tyr293MetfsTer6",
        "hgvsWellDefined": "NP_001188331.1:p.[Tyr293Met;Arg295_Thr300delinsAsp;Gln302_Ser306del;His308_Thr322del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017333"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1323,
          "referenceAllele": "T",
          "start": 1322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004115",
      "geneNCBI_id": 2581,
      "geneSymbol": "GALC",
      "hgvs": [
        "XM_011536618.1:c.787del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534920.1:p.Tyr263MetfsTer6",
        "hgvsWellDefined": "XP_011534920.1:p.[Tyr263Met;Arg265_Thr270delinsAsp;Gln272_Ser276del;His278_Thr292del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103603"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1344,
          "referenceAllele": "T",
          "start": 1343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004115",
      "geneNCBI_id": 2581,
      "geneSymbol": "GALC",
      "hgvs": [
        "XM_011536618.2:c.787del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534920.1:p.Tyr263MetfsTer6",
        "hgvsWellDefined": "XP_011534920.1:p.[Tyr263Met;Arg265_Thr270delinsAsp;Gln272_Ser276del;His278_Thr292del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552566"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 973,
          "referenceAllele": "T",
          "start": 972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004115",
      "geneNCBI_id": 2581,
      "geneSymbol": "GALC",
      "hgvs": [
        "NM_000153.4:c.955del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000144.2:p.Tyr319MetfsTer6",
        "hgvsWellDefined": "NP_000144.2:p.[Tyr319Met;Arg321_Thr326delinsAsp;Gln328_Ser332del;His334_Thr348del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662329",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261304.7:c.955del"
          },
          "RefSeq": {
            "hgvs": "NM_000153.4:c.955del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261304.2:p.Tyr319MetfsTer6"
          },
          "RefSeq": {
            "hgvs": "NP_000144.2:p.Tyr319MetfsTer6"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 904,
          "referenceAllele": "T",
          "start": 903
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004115",
      "geneNCBI_id": 2581,
      "geneSymbol": "GALC",
      "hgvs": [
        "NM_001201401.2:c.886del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001188330.1:p.Tyr296MetfsTer6",
        "hgvsWellDefined": "NP_001188330.1:p.[Tyr296Met;Arg298_Thr303delinsAsp;Gln305_Ser309del;His311_Thr325del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714057"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1043,
          "referenceAllele": "T",
          "start": 1042
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004115",
      "geneNCBI_id": 2581,
      "geneSymbol": "GALC",
      "hgvs": [
        "NM_001201402.2:c.877del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001188331.1:p.Tyr293MetfsTer6",
        "hgvsWellDefined": "NP_001188331.1:p.[Tyr293Met;Arg295_Thr300delinsAsp;Gln302_Ser306del;His308_Thr322del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714058"
    }
  ],
  "type": "nucleotide"
}