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"http://reg.genome.network/allele/PA2826695087", "coordinates": [ { "allele": "T", "end": 573, "referenceAllele": "C", "start": 572 } ], "gene": "http://reg.genome.network/gene/GN000359", "geneNCBI_id": 23746, "geneSymbol": "AIPL1", "hgvs": [ "NM_001285402.1:c.370C>T" ], "proteinEffect": { "hgvs": "NP_001272331.1:p.Gln124Ter", "hgvsWellDefined": 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"http://reg.genome.network/gene/GN000359", "geneNCBI_id": 23746, "geneSymbol": "AIPL1", "hgvs": [ "NM_001285403.2:c.466-3C>T" ], "proteinEffect": { "hgvs": "NP_001272332.1:n.466-3C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS022671" }, { "@id": "http://reg.genome.network/allele/PA227885", "coordinates": [ { "allele": "T", "end": 582, "referenceAllele": "C", "start": 581 } ], "gene": "http://reg.genome.network/gene/GN000359", "geneNCBI_id": 23746, "geneSymbol": "AIPL1", "hgvs": [ "NM_014336.4:c.487C>T" ], "proteinEffect": { "hgvs": "NP_055151.3:p.Gln163Ter", "hgvsWellDefined": "NP_055151.3:p.Gln163_His384delinsArgGluThrTrpAsnLeuSerAsnHisGluLysMetLysAlaValProValLeuHisGlyGluGlyAsnArgLeuPheLysLeuGlyArgTyrGluGluAlaSerSerLysTyrGlnGluAlaIleIleCysLeuArgAsnLeuGlnThrLysGluLysProTrpGluValGlnTrpLeuLysLeuGluLysMetIleAsnThrLeuIleLeuAsnTyrCysGlnCysLeuLeuLysLysGluGluTyrTyrGluValLeuGluHisThrSerAspIleLeuArgHisHisProGlyIleValLysAlaTyrTyrValArgAlaArgAlaHisAlaGluValTrpAsnGluAlaGluAlaLysAlaAspLeuGlnLysValLeuGluLeuGluProSerMetGlnLysAlaValArgArgGluLeuArgLeuLeuGluAsnArgMetAlaGluLysGlnGluGluGluArgLeuArgCysArgAsnMetLeuSerGlnGlyAlaThrGlnProProAlaGluProProThrGluProProAlaGlnSerSerThrGluProProAlaGluProProThrAlaProSerAlaGluLeuSerAlaGlyProProAlaGluProAlaThrGluProProProSerProGlyHisSerLeuGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS033093" }, { "@id": "http://reg.genome.network/allele/PA2825368806", "coordinates": [ { "allele": "T", "end": 315, "referenceAllele": "C", "start": 314 } ], "gene": "http://reg.genome.network/gene/GN000359", "geneNCBI_id": 23746, "geneSymbol": "AIPL1", "hgvs": [ "NM_001033054.3:c.298C>T" ], "proteinEffect": { "hgvs": "NP_001028226.1:p.Gln100Ter", "hgvsWellDefined": "NP_001028226.1:p.Gln100_His321delinsArgGluThrTrpAsnLeuSerAsnHisGluLysMetLysAlaValProValLeuHisGlyGluGlyAsnArgLeuPheLysLeuGlyArgTyrGluGluAlaSerSerLysTyrGlnGluAlaIleIleCysLeuArgAsnLeuGlnThrLysGluLysProTrpGluValGlnTrpLeuLysLeuGluLysMetIleAsnThrLeuIleLeuAsnTyrCysGlnCysLeuLeuLysLysGluGluTyrTyrGluValLeuGluHisThrSerAspIleLeuArgHisHisProGlyIleValLysAlaTyrTyrValArgAlaArgAlaHisAlaGluValTrpAsnGluAlaGluAlaLysAlaAspLeuGlnLysValLeuGluLeuGluProSerMetGlnLysAlaValArgArgGluLeuArgLeuLeuGluAsnArgMetAlaGluLysGlnGluGluGluArgLeuArgCysArgAsnMetLeuSerGlnGlyAlaThrGlnProProAlaGluProProThrGluProProAlaGlnSerSerThrGluProProAlaGluProProThrAlaProSerAlaGluLeuSerAlaGlyProProAlaGluProAlaThrGluProProProSerProGlyHisSerLeuGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS675781" }, { "@id": "http://reg.genome.network/allele/PA2825369338", "coordinates": [ { "allele": "T", "end": 324, "referenceAllele": "C", "start": 323 } ], "gene": "http://reg.genome.network/gene/GN000359", "geneNCBI_id": 23746, "geneSymbol": "AIPL1", "hgvs": [ "NM_001033055.3:c.307C>T" ], "proteinEffect": { "hgvs": "NP_001028227.1:p.Gln103Ter", "hgvsWellDefined": "NP_001028227.1:p.Gln103_His324delinsArgGluThrTrpAsnLeuSerAsnHisGluLysMetLysAlaValProValLeuHisGlyGluGlyAsnArgLeuPheLysLeuGlyArgTyrGluGluAlaSerSerLysTyrGlnGluAlaIleIleCysLeuArgAsnLeuGlnThrLysGluLysProTrpGluValGlnTrpLeuLysLeuGluLysMetIleAsnThrLeuIleLeuAsnTyrCysGlnCysLeuLeuLysLysGluGluTyrTyrGluValLeuGluHisThrSerAspIleLeuArgHisHisProGlyIleValLysAlaTyrTyrValArgAlaArgAlaHisAlaGluValTrpAsnGluAlaGluAlaLysAlaAspLeuGlnLysValLeuGluLeuGluProSerMetGlnLysAlaValArgArgGluLeuArgLeuLeuGluAsnArgMetAlaGluLysGlnGluGluGluArgLeuArgCysArgAsnMetLeuSerGlnGlyAlaThrGlnProProAlaGluProProThrGluProProAlaGlnSerSerThrGluProProAlaGluProProThrAlaProSerAlaGluLeuSerAlaGlyProProAlaGluProAlaThrGluProProProSerProGlyHisSerLeuGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS675782" }, { "@id": "http://reg.genome.network/allele/PA2826693522", "coordinates": [ { "allele": "T", "end": 468, "referenceAllele": "C", "start": 467 } ], "gene": "http://reg.genome.network/gene/GN000359", "geneNCBI_id": 23746, "geneSymbol": "AIPL1", "hgvs": [ "NM_001285399.3:c.451C>T" ], "proteinEffect": { "hgvs": "NP_001272328.1:p.Gln151Ter", "hgvsWellDefined": "NP_001272328.1:p.Gln151_His372delinsArgGluThrTrpAsnLeuSerAsnHisGluLysMetLysAlaValProValLeuHisGlyGluGlyAsnArgLeuPheLysLeuGlyArgTyrGluGluAlaSerSerLysTyrGlnGluAlaIleIleCysLeuArgAsnLeuGlnThrLysGluLysProTrpGluValGlnTrpLeuLysLeuGluLysMetIleAsnThrLeuIleLeuAsnTyrCysGlnCysLeuLeuLysLysGluGluTyrTyrGluValLeuGluHisThrSerAspIleLeuArgHisHisProGlyIleValLysAlaTyrTyrValArgAlaArgAlaHisAlaGluValTrpAsnGluAlaGluAlaLysAlaAspLeuGlnLysValLeuGluLeuGluProSerMetGlnLysAlaValArgArgGluLeuArgLeuLeuGluAsnArgMetAlaGluLysGlnGluGluGluArgLeuArgCysArgAsnMetLeuSerGlnGlyAlaThrGlnProProAlaGluProProThrGluProProAlaGlnSerSerThrGluProProAlaGluProProThrAlaProSerAlaGluLeuSerAlaGlyProProAlaGluProAlaThrGluProProProSerProGlyHisSerLeuGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682110" }, { "@id": "http://reg.genome.network/allele/PA2826693946", "coordinates": [ { "allele": "T", "end": 438, "referenceAllele": "C", "start": 437 } ], "gene": "http://reg.genome.network/gene/GN000359", "geneNCBI_id": 23746, "geneSymbol": "AIPL1", "hgvs": [ "NM_001285400.3:c.421C>T" ], "proteinEffect": { "hgvs": "NP_001272329.1:p.Gln141Ter", "hgvsWellDefined": "NP_001272329.1:p.Gln141_His362delinsArgGluThrTrpAsnLeuSerAsnHisGluLysMetLysAlaValProValLeuHisGlyGluGlyAsnArgLeuPheLysLeuGlyArgTyrGluGluAlaSerSerLysTyrGlnGluAlaIleIleCysLeuArgAsnLeuGlnThrLysGluLysProTrpGluValGlnTrpLeuLysLeuGluLysMetIleAsnThrLeuIleLeuAsnTyrCysGlnCysLeuLeuLysLysGluGluTyrTyrGluValLeuGluHisThrSerAspIleLeuArgHisHisProGlyIleValLysAlaTyrTyrValArgAlaArgAlaHisAlaGluValTrpAsnGluAlaGluAlaLysAlaAspLeuGlnLysValLeuGluLeuGluProSerMetGlnLysAlaValArgArgGluLeuArgLeuLeuGluAsnArgMetAlaGluLysGlnGluGluGluArgLeuArgCysArgAsnMetLeuSerGlnGlyAlaThrGlnProProAlaGluProProThrGluProProAlaGlnSerSerThrGluProProAlaGluProProThrAlaProSerAlaGluLeuSerAlaGlyProProAlaGluProAlaThrGluProProProSerProGlyHisSerLeuGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682111" }, { "@id": "http://reg.genome.network/allele/PA2826694515", "coordinates": [ { "allele": "T", "end": 504, "referenceAllele": "C", "start": 503 } ], "gene": "http://reg.genome.network/gene/GN000359", "geneNCBI_id": 23746, "geneSymbol": "AIPL1", "hgvs": [ "NM_001285401.3:c.487C>T" ], "proteinEffect": { "hgvs": "NP_001272330.1:p.Gln163Ter", "hgvsWellDefined": "NP_001272330.1:p.Gln163_His360delinsArgGluThrTrpAsnLeuSerAsnHisGluLysMetLysAlaValProValLeuHisGlyGluGlyAsnArgLeuPheLysLeuGlyArgTyrGluGluAlaSerSerLysTyrGlnGluAlaIleIleCysLeuArgAsnLeuGlnThrLysCysLeuLeuLysLysGluGluTyrTyrGluValLeuGluHisThrSerAspIleLeuArgHisHisProGlyIleValLysAlaTyrTyrValArgAlaArgAlaHisAlaGluValTrpAsnGluAlaGluAlaLysAlaAspLeuGlnLysValLeuGluLeuGluProSerMetGlnLysAlaValArgArgGluLeuArgLeuLeuGluAsnArgMetAlaGluLysGlnGluGluGluArgLeuArgCysArgAsnMetLeuSerGlnGlyAlaThrGlnProProAlaGluProProThrGluProProAlaGlnSerSerThrGluProProAlaGluProProThrAlaProSerAlaGluLeuSerAlaGlyProProAlaGluProAlaThrGluProProProSerProGlyHisSerLeuGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682112" }, { "@id": "http://reg.genome.network/allele/PA2826695087", "coordinates": [ { "allele": "T", "end": 562, "referenceAllele": "C", "start": 561 } ], "gene": "http://reg.genome.network/gene/GN000359", "geneNCBI_id": 23746, "geneSymbol": "AIPL1", "hgvs": [ "NM_001285402.2:c.370C>T" ], "proteinEffect": { "hgvs": "NP_001272331.1:p.Gln124Ter", "hgvsWellDefined": "NP_001272331.1:p.Gln124_His345delinsArgGluThrTrpAsnLeuSerAsnHisGluLysMetLysAlaValProValLeuHisGlyGluGlyAsnArgLeuPheLysLeuGlyArgTyrGluGluAlaSerSerLysTyrGlnGluAlaIleIleCysLeuArgAsnLeuGlnThrLysGluLysProTrpGluValGlnTrpLeuLysLeuGluLysMetIleAsnThrLeuIleLeuAsnTyrCysGlnCysLeuLeuLysLysGluGluTyrTyrGluValLeuGluHisThrSerAspIleLeuArgHisHisProGlyIleValLysAlaTyrTyrValArgAlaArgAlaHisAlaGluValTrpAsnGluAlaGluAlaLysAlaAspLeuGlnLysValLeuGluLeuGluProSerMetGlnLysAlaValArgArgGluLeuArgLeuLeuGluAsnArgMetAlaGluLysGlnGluGluGluArgLeuArgCysArgAsnMetLeuSerGlnGlyAlaThrGlnProProAlaGluProProThrGluProProAlaGlnSerSerThrGluProProAlaGluProProThrAlaProSerAlaGluLeuSerAlaGlyProProAlaGluProAlaThrGluProProProSerProGlyHisSerLeuGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682113" }, { "coordinates": [ { "allele": "T", "end": 482, "endIntronDirection": "-", "endIntronOffset": 2, "referenceAllele": "C", "start": 482, "startIntronDirection": "-", "startIntronOffset": 3 } ], "gene": "http://reg.genome.network/gene/GN000359", "geneNCBI_id": 23746, "geneSymbol": "AIPL1", "hgvs": [ "NM_001285403.3:c.466-3C>T" ], "proteinEffect": { "hgvs": "NP_001272332.1:n.466-3C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS682114" }, { "@id": "http://reg.genome.network/allele/PA227885", "coordinates": [ { "allele": "T", "end": 504, "referenceAllele": "C", "start": 503 } ], "gene": "http://reg.genome.network/gene/GN000359", "geneNCBI_id": 23746, "geneSymbol": "AIPL1", "hgvs": [ "NM_014336.5:c.487C>T" ], "proteinEffect": { "hgvs": "NP_055151.3:p.Gln163Ter", "hgvsWellDefined": "NP_055151.3:p.Gln163_His384delinsArgGluThrTrpAsnLeuSerAsnHisGluLysMetLysAlaValProValLeuHisGlyGluGlyAsnArgLeuPheLysLeuGlyArgTyrGluGluAlaSerSerLysTyrGlnGluAlaIleIleCysLeuArgAsnLeuGlnThrLysGluLysProTrpGluValGlnTrpLeuLysLeuGluLysMetIleAsnThrLeuIleLeuAsnTyrCysGlnCysLeuLeuLysLysGluGluTyrTyrGluValLeuGluHisThrSerAspIleLeuArgHisHisProGlyIleValLysAlaTyrTyrValArgAlaArgAlaHisAlaGluValTrpAsnGluAlaGluAlaLysAlaAspLeuGlnLysValLeuGluLeuGluProSerMetGlnLysAlaValArgArgGluLeuArgLeuLeuGluAsnArgMetAlaGluLysGlnGluGluGluArgLeuArgCysArgAsnMetLeuSerGlnGlyAlaThrGlnProProAlaGluProProThrGluProProAlaGlnSerSerThrGluProProAlaGluProProThrAlaProSerAlaGluLeuSerAlaGlyProProAlaGluProAlaThrGluProProProSerProGlyHisSerLeuGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697229", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000381129.8:c.487C>T" }, "RefSeq": { "hgvs": "NM_014336.5:c.487C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000370521.3:p.Gln163Ter" }, "RefSeq": { "hgvs": "NP_055151.3:p.Gln163Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 482, "endIntronDirection": "-", "endIntronOffset": 2, "referenceAllele": "C", "start": 482, "startIntronDirection": "-", "startIntronOffset": 3 } ], "gene": "http://reg.genome.network/gene/GN000359", "geneNCBI_id": 23746, "geneSymbol": "AIPL1", "hgvs": [ "NM_001285403.4:c.466-3C>T" ], "proteinEffect": { "hgvs": "NP_001272332.1:n.466-3C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS716093" } ], "type": "nucleotide" }