{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA4187613",
  "communityStandardTitle": [
    "NM_002510.3(GPNMB):c.1056del (p.Pro353LeufsTer20)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=494922[alleleid]",
        "alleleId": 494922,
        "preferredName": "NM_002510.3(GPNMB):c.1056del (p.Pro353fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/503499",
        "RCV": [
          "RCV000597417"
        ],
        "variationId": 503499
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/7-23306171-AT-A",
        "id": "7-23306171-AT-A",
        "variant": "7:23306171 AT / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.23306173del?assembly=hg19",
        "id": "chr7:g.23306173del"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.23306172del?assembly=hg19",
        "id": "chr7:g.23306172del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.23266554del?assembly=hg38",
        "id": "chr7:g.23266554del"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.23266553del?assembly=hg38",
        "id": "chr7:g.23266553del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/763065333",
        "rs": 763065333
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-23306171-AT-A?dataset=gnomad_r2_1",
        "id": "7-23306171-AT-A",
        "variant": "7:23306171 AT / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-23266552-AT-A?dataset=gnomad_r3",
        "id": "7-23266552-AT-A",
        "variant": "7:23266552 AT / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-23266552-AT-A?dataset=gnomad_r4",
        "id": "7-23266552-AT-A",
        "variant": "7:23266552 AT / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "",
          "end": 23266554,
          "referenceAllele": "T",
          "start": 23266553
        }
      ],
      "hgvs": [
        "NC_000007.14:g.23266554del",
        "CM000669.2:g.23266554del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "",
          "end": 23306173,
          "referenceAllele": "T",
          "start": 23306172
        }
      ],
      "hgvs": [
        "NC_000007.13:g.23306173del",
        "CM000669.1:g.23306173del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "",
          "end": 23272698,
          "referenceAllele": "T",
          "start": 23272697
        }
      ],
      "hgvs": [
        "NC_000007.12:g.23272698del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1139,
          "referenceAllele": "T",
          "start": 1138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004462",
      "geneNCBI_id": 10457,
      "geneSymbol": "GPNMB",
      "hgvs": [
        "ENST00000258733.9:c.1056del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000258733.5:p.Pro353LeufsTer20",
        "hgvsWellDefined": "ENSP00000258733.5:p.[Pro353_Asn360delinsLeuMetLysThrAla;Tyr362_Gln366delinsLeuThrAspMet;Ile369_Ile375delinsPheLysProProSerGln;Glu377_Gln382del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741927",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000258733.9:c.1056del"
          },
          "RefSeq": {
            "hgvs": "NM_002510.3:c.1056del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000258733.5:p.Pro353LeufsTer20"
          },
          "RefSeq": {
            "hgvs": "NP_002501.1:p.Pro353LeufsTer20"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1252,
          "referenceAllele": "T",
          "start": 1251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004462",
      "geneNCBI_id": 10457,
      "geneSymbol": "GPNMB",
      "hgvs": [
        "ENST00000647578.1:c.1140del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497362.1:p.Pro381LeufsTer20",
        "hgvsWellDefined": "ENSP00000497362.1:p.[Pro381_Asn388delinsLeuMetLysThrAla;Tyr390_Gln394delinsLeuThrAspMet;Ile397_Ile403delinsPheLysProProSerGln;Glu405_Gln410del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769494"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1351,
          "referenceAllele": "T",
          "start": 1350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004462",
      "geneNCBI_id": 10457,
      "geneSymbol": "GPNMB",
      "hgvs": [
        "ENST00000258733.8:c.1056del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000258733.4:p.Pro353LeufsTer20",
        "hgvsWellDefined": "ENSP00000258733.4:p.[Pro353_Asn360delinsLeuMetLysThrAla;Tyr362_Gln366delinsLeuThrAspMet;Ile369_Ile375delinsPheLysProProSerGln;Glu377_Gln382del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250416"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1253,
          "referenceAllele": "T",
          "start": 1252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004462",
      "geneNCBI_id": 10457,
      "geneSymbol": "GPNMB",
      "hgvs": [
        "ENST00000381990.6:c.1092del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371420.2:p.Pro365LeufsTer20",
        "hgvsWellDefined": "ENSP00000371420.2:p.[Pro365_Asn372delinsLeuMetLysThrAla;Tyr374_Gln378delinsLeuThrAspMet;Ile381_Ile387delinsPheLysProProSerGln;Glu389_Gln394del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273582"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 415,
          "referenceAllele": "T",
          "start": 414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004462",
      "geneNCBI_id": 10457,
      "geneSymbol": "GPNMB",
      "hgvs": [
        "ENST00000479625.1:n.415del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319955"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1253,
          "referenceAllele": "T",
          "start": 1252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004462",
      "geneNCBI_id": 10457,
      "geneSymbol": "GPNMB",
      "hgvs": [
        "NM_001005340.1:c.1092del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005340.1:p.Pro365LeufsTer20",
        "hgvsWellDefined": "NP_001005340.1:p.[Pro365_Asn372delinsLeuMetLysThrAla;Tyr374_Gln378delinsLeuThrAspMet;Ile381_Ile387delinsPheLysProProSerGln;Glu389_Gln394del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007687"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1217,
          "referenceAllele": "T",
          "start": 1216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004462",
      "geneNCBI_id": 10457,
      "geneSymbol": "GPNMB",
      "hgvs": [
        "NM_002510.2:c.1056del"
      ],
      "proteinEffect": {
        "hgvs": "NP_002501.1:p.Pro353LeufsTer20",
        "hgvsWellDefined": "NP_002501.1:p.[Pro353_Asn360delinsLeuMetLysThrAla;Tyr362_Gln366delinsLeuThrAspMet;Ile369_Ile375delinsPheLysProProSerGln;Glu377_Gln382del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027812"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1264,
          "referenceAllele": "T",
          "start": 1263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004462",
      "geneNCBI_id": 10457,
      "geneSymbol": "GPNMB",
      "hgvs": [
        "XM_005249578.1:c.1092del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005249635.1:p.Pro365LeufsTer20",
        "hgvsWellDefined": "XP_005249635.1:p.[Pro365_Asn372delinsLeuMetLysThrAla;Tyr374_Gln378delinsLeuThrAspMet;Ile381_Ile387delinsPheLysProProSerGln;Glu389_Gln394del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058876"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1184,
          "referenceAllele": "T",
          "start": 1183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004462",
      "geneNCBI_id": 10457,
      "geneSymbol": "GPNMB",
      "hgvs": [
        "XM_005249578.3:c.1092del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005249635.1:p.Pro365LeufsTer20",
        "hgvsWellDefined": "XP_005249635.1:p.[Pro365_Asn372delinsLeuMetLysThrAla;Tyr374_Gln378delinsLeuThrAspMet;Ile381_Ile387delinsPheLysProProSerGln;Glu389_Gln394del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533280"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1268,
          "referenceAllele": "T",
          "start": 1267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004462",
      "geneNCBI_id": 10457,
      "geneSymbol": "GPNMB",
      "hgvs": [
        "XM_017011676.2:c.1176del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867165.1:p.Pro393LeufsTer20",
        "hgvsWellDefined": "XP_016867165.1:p.[Pro393_Asn400delinsLeuMetLysThrAla;Tyr402_Gln406delinsLeuThrAspMet;Ile409_Ile415delinsPheLysProProSerGln;Glu417_Gln422del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565474"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1268,
          "referenceAllele": "T",
          "start": 1267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004462",
      "geneNCBI_id": 10457,
      "geneSymbol": "GPNMB",
      "hgvs": [
        "XM_017011677.2:c.1176del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867166.1:p.Pro393LeufsTer20",
        "hgvsWellDefined": "XP_016867166.1:p.[Pro393_Asn400delinsLeuMetLysThrAla;Tyr402_Gln406delinsLeuThrAspMet;Ile409_Ile415delinsPheLysProProSerGln;Glu417_Gln422del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565475"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1148,
          "referenceAllele": "T",
          "start": 1147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004462",
      "geneNCBI_id": 10457,
      "geneSymbol": "GPNMB",
      "hgvs": [
        "XM_017011678.2:c.1056del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867167.1:p.Pro353LeufsTer20",
        "hgvsWellDefined": "XP_016867167.1:p.[Pro353_Asn360delinsLeuMetLysThrAla;Tyr362_Gln366delinsLeuThrAspMet;Ile369_Ile375delinsPheLysProProSerGln;Glu377_Gln382del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565476"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1175,
          "referenceAllele": "T",
          "start": 1174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004462",
      "geneNCBI_id": 10457,
      "geneSymbol": "GPNMB",
      "hgvs": [
        "NM_001005340.2:c.1092del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005340.1:p.Pro365LeufsTer20",
        "hgvsWellDefined": "NP_001005340.1:p.[Pro365_Asn372delinsLeuMetLysThrAla;Tyr374_Gln378delinsLeuThrAspMet;Ile381_Ile387delinsPheLysProProSerGln;Glu389_Gln394del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675185"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1139,
          "referenceAllele": "T",
          "start": 1138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004462",
      "geneNCBI_id": 10457,
      "geneSymbol": "GPNMB",
      "hgvs": [
        "NM_002510.3:c.1056del"
      ],
      "proteinEffect": {
        "hgvs": "NP_002501.1:p.Pro353LeufsTer20",
        "hgvsWellDefined": "NP_002501.1:p.[Pro353_Asn360delinsLeuMetLysThrAla;Tyr362_Gln366delinsLeuThrAspMet;Ile369_Ile375delinsPheLysProProSerGln;Glu377_Gln382del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695563",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000258733.9:c.1056del"
          },
          "RefSeq": {
            "hgvs": "NM_002510.3:c.1056del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000258733.5:p.Pro353LeufsTer20"
          },
          "RefSeq": {
            "hgvs": "NP_002501.1:p.Pro353LeufsTer20"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}