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{ "allele": "A", "end": 4254, "referenceAllele": "G", "start": 4253 } ], "gene": "http://reg.genome.network/gene/GN025230", "geneNCBI_id": 27245, "geneSymbol": "AHDC1", "hgvs": [ "ENST00000247087.10:c.3656G>A" ], "proteinEffect": { "hgvs": "ENSP00000247087.4:p.Trp1219Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS270020" }, { "@id": "http://reg.genome.network/allele/PA2825344256", "coordinates": [ { "allele": "A", "end": 4487, "referenceAllele": "G", "start": 4486 } ], "gene": "http://reg.genome.network/gene/GN025230", "geneNCBI_id": 27245, "geneSymbol": "AHDC1", "hgvs": [ "NM_001029882.3:c.3656G>A" ], "proteinEffect": { "hgvs": "NP_001025053.1:p.Trp1219Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS008930" }, { "coordinates": [ { "allele": "A", "end": 4612, "referenceAllele": "G", "start": 4611 } ], "gene": "http://reg.genome.network/gene/GN025230", "geneNCBI_id": 27245, "geneSymbol": "AHDC1", "hgvs": [ "XM_005245848.2:c.3656G>A" ], "proteinEffect": { "hgvs": "XP_005245905.1:p.Trp1219Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS057399" }, { "coordinates": [ { "allele": "A", "end": 4717, "referenceAllele": "G", "start": 4716 } ], "gene": "http://reg.genome.network/gene/GN025230", "geneNCBI_id": 27245, "geneSymbol": "AHDC1", "hgvs": [ "XM_005245849.2:c.3656G>A" ], "proteinEffect": { "hgvs": "XP_005245906.1:p.Trp1219Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS057400" }, { "coordinates": [ { "allele": "A", "end": 4737, "referenceAllele": "G", "start": 4736 } ], "gene": "http://reg.genome.network/gene/GN025230", "geneNCBI_id": 27245, "geneSymbol": "AHDC1", "hgvs": [ "XM_005245850.2:c.3656G>A" ], "proteinEffect": { "hgvs": "XP_005245907.1:p.Trp1219Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS057401" }, { "coordinates": [ { "allele": "A", "end": 4609, "referenceAllele": "G", "start": 4608 } ], "gene": "http://reg.genome.network/gene/GN025230", "geneNCBI_id": 27245, "geneSymbol": "AHDC1", "hgvs": [ "XM_005245851.2:c.3656G>A" ], "proteinEffect": { "hgvs": "XP_005245908.1:p.Trp1219Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS057402" }, { "coordinates": [ { "allele": "A", "end": 4386, "referenceAllele": "G", "start": 4385 } ], "gene": "http://reg.genome.network/gene/GN025230", "geneNCBI_id": 27245, "geneSymbol": "AHDC1", "hgvs": [ "XM_005245852.2:c.3656G>A" ], "proteinEffect": { "hgvs": "XP_005245909.1:p.Trp1219Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS057403" }, { "coordinates": [ { "allele": "A", "end": 4401, "referenceAllele": "G", "start": 4400 } ], "gene": "http://reg.genome.network/gene/GN025230", "geneNCBI_id": 27245, "geneSymbol": "AHDC1", "hgvs": [ "XM_011541255.1:c.3656G>A" ], "proteinEffect": { "hgvs": "XP_011539557.1:p.Trp1219Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS108197" }, { "coordinates": [ { "allele": "A", "end": 4731, "referenceAllele": "G", "start": 4730 } ], "gene": "http://reg.genome.network/gene/GN025230", "geneNCBI_id": 27245, "geneSymbol": "AHDC1", "hgvs": [ "XM_011541256.1:c.3656G>A" ], "proteinEffect": { "hgvs": "XP_011539558.1:p.Trp1219Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS108198" }, { "coordinates": [ { "allele": "A", "end": 4309, "referenceAllele": "G", "start": 4308 } ], "gene": "http://reg.genome.network/gene/GN025230", "geneNCBI_id": 27245, "geneSymbol": "AHDC1", "hgvs": [ "XM_011541257.1:c.3656G>A" ], "proteinEffect": { "hgvs": "XP_011539559.1:p.Trp1219Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS108199" }, { "coordinates": [ { "allele": "A", "end": 4613, "referenceAllele": "G", "start": 4612 } ], "gene": "http://reg.genome.network/gene/GN025230", "geneNCBI_id": 27245, "geneSymbol": "AHDC1", "hgvs": [ "XR_946609.1:n.4613G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS140193" }, { "coordinates": [ { "allele": "A", "end": 4722, "referenceAllele": "G", "start": 4721 } ], "gene": "http://reg.genome.network/gene/GN025230", "geneNCBI_id": 27245, "geneSymbol": "AHDC1", "hgvs": [ "XM_005245848.3:c.3656G>A" ], "proteinEffect": { "hgvs": "XP_005245905.1:p.Trp1219Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS532515" }, { "coordinates": [ { "allele": "A", "end": 4827, "referenceAllele": "G", "start": 4826 } ], "gene": "http://reg.genome.network/gene/GN025230", "geneNCBI_id": 27245, "geneSymbol": "AHDC1", "hgvs": [ "XM_005245849.3:c.3656G>A" ], "proteinEffect": { "hgvs": "XP_005245906.1:p.Trp1219Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS532516" }, { "coordinates": [ { "allele": "A", "end": 4847, "referenceAllele": "G", "start": 4846 } ], "gene": "http://reg.genome.network/gene/GN025230", "geneNCBI_id": 27245, "geneSymbol": "AHDC1", "hgvs": [ "XM_005245850.3:c.3656G>A" ], "proteinEffect": { "hgvs": "XP_005245907.1:p.Trp1219Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS532517" }, { "coordinates": [ { "allele": "A", "end": 4719, "referenceAllele": "G", "start": 4718 } ], "gene": "http://reg.genome.network/gene/GN025230", "geneNCBI_id": 27245, "geneSymbol": "AHDC1", "hgvs": [ "XM_005245851.3:c.3656G>A" ], "proteinEffect": { "hgvs": "XP_005245908.1:p.Trp1219Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS532518" }, { "coordinates": [ { "allele": "A", "end": 4496, "referenceAllele": "G", "start": 4495 } ], "gene": "http://reg.genome.network/gene/GN025230", "geneNCBI_id": 27245, "geneSymbol": "AHDC1", "hgvs": [ "XM_005245852.3:c.3656G>A" ], "proteinEffect": { "hgvs": "XP_005245909.1:p.Trp1219Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS532519" }, { "coordinates": [ { "allele": "A", "end": 4841, "referenceAllele": "G", "start": 4840 } ], "gene": "http://reg.genome.network/gene/GN025230", "geneNCBI_id": 27245, "geneSymbol": "AHDC1", "hgvs": [ "XM_011541256.2:c.3656G>A" ], "proteinEffect": { "hgvs": "XP_011539558.1:p.Trp1219Ter", "hgvsWellDefined": "XP_011539558.1:p.Trp1219_Leu1603delinsAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554365" }, { "coordinates": [ { "allele": "A", "end": 5596, "referenceAllele": "G", "start": 5595 } ], "gene": "http://reg.genome.network/gene/GN025230", "geneNCBI_id": 27245, "geneSymbol": "AHDC1", "hgvs": [ "XM_011541257.2:c.3656G>A" ], "proteinEffect": { "hgvs": "XP_011539559.1:p.Trp1219Ter", "hgvsWellDefined": "XP_011539559.1:p.Trp1219_Leu1603delinsAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554366" }, { "coordinates": [ { "allele": "A", "end": 4804, "referenceAllele": "G", "start": 4803 } ], "gene": "http://reg.genome.network/gene/GN025230", "geneNCBI_id": 27245, "geneSymbol": "AHDC1", "hgvs": [ "XM_024446461.1:c.3656G>A" ], "proteinEffect": { "hgvs": "XP_024302229.1:p.Trp1219Ter", "hgvsWellDefined": "XP_024302229.1:p.Trp1219_Leu1603delinsAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580123" }, { "coordinates": [ { "allele": "A", "end": 4723, "referenceAllele": "G", "start": 4722 } ], "gene": "http://reg.genome.network/gene/GN025230", "geneNCBI_id": 27245, "geneSymbol": "AHDC1", "hgvs": [ "XR_946609.2:n.4723G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS614392" }, { "@id": "http://reg.genome.network/allele/PA2573214080", "coordinates": [ { "allele": "A", "end": 4557, "referenceAllele": "G", "start": 4556 } ], "gene": "http://reg.genome.network/gene/GN025230", "geneNCBI_id": 27245, "geneSymbol": "AHDC1", "hgvs": [ "NM_001371928.1:c.3656G>A" ], "proteinEffect": { "hgvs": "NP_001358857.1:p.Trp1219Ter", "hgvsWellDefined": "NP_001358857.1:p.Trp1219_Leu1603delinsAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693074", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000673934.1:c.3656G>A" }, "RefSeq": { "hgvs": "NM_001371928.1:c.3656G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000501218.1:p.Trp1219Ter" }, "RefSeq": { "hgvs": "NP_001358857.1:p.Trp1219Ter" } } } } ], "type": "nucleotide" }