{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA339226430", "communityStandardTitle": [ "NM_001371928.1(AHDC1):c.3466C>T (p.Gln1156Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=611517[alleleid]", "alleleId": 611517, "preferredName": "NM_001371928.1(AHDC1):c.3466C>T (p.Gln1156Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/620243", "RCV": [ "RCV000760606", "RCV001563698" ], "variationId": 620243 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.27875161G>A?assembly=hg19", "id": "chr1:g.27875161G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.27548650G>A?assembly=hg38", "id": "chr1:g.27548650G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1557658942", "rs": 1557658942 } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 27548650, "referenceAllele": "G", "start": 27548649 } ], "hgvs": [ "NC_000001.11:g.27548650G>A", "CM000663.2:g.27548650G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 27875161, "referenceAllele": "G", "start": 27875160 } ], "hgvs": [ "NC_000001.10:g.27875161G>A", "CM000663.1:g.27875161G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 27747748, "referenceAllele": "G", "start": 27747747 } ], "hgvs": [ "NC_000001.9:g.27747748G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "T", "end": 59845, "referenceAllele": "C", "start": 59844 } ], "hgvs": [ "NG_034158.1:g.59845C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS005786" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 4064, "referenceAllele": "C", "start": 4063 } ], "gene": "http://reg.genome.network/gene/GN025230", "geneNCBI_id": 27245, "geneSymbol": "AHDC1", "hgvs": [ "ENST00000247087.10:c.3466C>T" ], "proteinEffect": { "hgvs": "ENSP00000247087.4:p.Gln1156Ter", "hgvsWellDefined": "ENSP00000247087.4:p.Gln1156_Leu1603delinsThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS741322" }, { "coordinates": [ { "allele": "T", "end": 4367, "referenceAllele": "C", "start": 4366 } ], "gene": "http://reg.genome.network/gene/GN025230", "geneNCBI_id": 27245, "geneSymbol": "AHDC1", "hgvs": [ "ENST00000642245.1:c.3466C>T" ], "proteinEffect": { "hgvs": "ENSP00000495072.1:p.Gln1156Ter", "hgvsWellDefined": "ENSP00000495072.1:p.Gln1156_Leu1603delinsThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766637" }, { "coordinates": [ { "allele": "T", "end": 4089, "referenceAllele": "C", "start": 4088 } ], "gene": "http://reg.genome.network/gene/GN025230", "geneNCBI_id": 27245, "geneSymbol": "AHDC1", "hgvs": [ "ENST00000642416.1:c.3466C>T" ], "proteinEffect": { "hgvs": "ENSP00000494394.1:p.Gln1156Ter", "hgvsWellDefined": "ENSP00000494394.1:p.Gln1156_Leu1603delinsThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766729" }, { "coordinates": [ { "allele": "T", "end": 4070, "referenceAllele": "C", "start": 4069 } ], "gene": "http://reg.genome.network/gene/GN025230", "geneNCBI_id": 27245, "geneSymbol": "AHDC1", "hgvs": [ "ENST00000644989.1:c.3466C>T" ], "proteinEffect": { "hgvs": "ENSP00000495665.1:p.Gln1156Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS768110" }, { "coordinates": [ { "allele": "T", "end": 4367, "referenceAllele": "C", "start": 4366 } ], "gene": "http://reg.genome.network/gene/GN025230", "geneNCBI_id": 27245, "geneSymbol": "AHDC1", "hgvs": [ "ENST00000673934.1:c.3466C>T" ], "proteinEffect": { "hgvs": "ENSP00000501218.1:p.Gln1156Ter", "hgvsWellDefined": "ENSP00000501218.1:p.Gln1156_Leu1603delinsThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS773988", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000673934.1:c.3466C>T" }, "RefSeq": { "hgvs": "NM_001371928.1:c.3466C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000501218.1:p.Gln1156Ter" }, "RefSeq": { "hgvs": "NP_001358857.1:p.Gln1156Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 4063, "referenceAllele": "C", "start": 4062 } ], "gene": "http://reg.genome.network/gene/GN025230", "geneNCBI_id": 27245, "geneSymbol": "AHDC1", "hgvs": [ "ENST00000247087.9:c.3466C>T" ], "proteinEffect": { "hgvs": "ENSP00000247087.4:p.Gln1156Ter", "hgvsWellDefined": "ENSP00000247087.4:p.Gln1156_Leu1603delinsThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS249493" }, { "coordinates": [ { "allele": "T", "end": 4435, "referenceAllele": "C", "start": 4434 } ], "gene": "http://reg.genome.network/gene/GN025230", "geneNCBI_id": 27245, "geneSymbol": "AHDC1", "hgvs": [ "ENST00000374011.6:c.3466C>T" ], "proteinEffect": { "hgvs": "ENSP00000363123.2:p.Gln1156Ter", "hgvsWellDefined": "ENSP00000363123.2:p.Gln1156_Leu1603delinsThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS270020" }, { "@id": "http://reg.genome.network/allele/PA913199862", "coordinates": [ { "allele": "T", "end": 4297, "referenceAllele": "C", "start": 4296 } ], "gene": "http://reg.genome.network/gene/GN025230", "geneNCBI_id": 27245, "geneSymbol": "AHDC1", "hgvs": [ "NM_001029882.3:c.3466C>T" ], "proteinEffect": { "hgvs": "NP_001025053.1:p.Gln1156Ter", "hgvsWellDefined": "NP_001025053.1:p.Gln1156_Leu1603delinsThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS008930" }, { "coordinates": [ { "allele": "T", "end": 4422, "referenceAllele": "C", "start": 4421 } ], "gene": "http://reg.genome.network/gene/GN025230", "geneNCBI_id": 27245, "geneSymbol": "AHDC1", "hgvs": [ "XM_005245848.2:c.3466C>T" ], "proteinEffect": { "hgvs": "XP_005245905.1:p.Gln1156Ter", "hgvsWellDefined": "XP_005245905.1:p.Gln1156_Leu1603delinsThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057399" }, { "coordinates": [ { "allele": "T", "end": 4527, "referenceAllele": "C", "start": 4526 } ], "gene": "http://reg.genome.network/gene/GN025230", "geneNCBI_id": 27245, "geneSymbol": "AHDC1", "hgvs": [ "XM_005245849.2:c.3466C>T" ], "proteinEffect": { "hgvs": "XP_005245906.1:p.Gln1156Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS057400" }, { "coordinates": [ { "allele": "T", "end": 4547, "referenceAllele": "C", "start": 4546 } ], "gene": "http://reg.genome.network/gene/GN025230", "geneNCBI_id": 27245, "geneSymbol": "AHDC1", "hgvs": [ "XM_005245850.2:c.3466C>T" ], "proteinEffect": { "hgvs": "XP_005245907.1:p.Gln1156Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS057401" }, { "coordinates": [ { "allele": "T", "end": 4419, "referenceAllele": "C", "start": 4418 } ], "gene": "http://reg.genome.network/gene/GN025230", "geneNCBI_id": 27245, "geneSymbol": "AHDC1", "hgvs": [ "XM_005245851.2:c.3466C>T" ], "proteinEffect": { "hgvs": "XP_005245908.1:p.Gln1156Ter", "hgvsWellDefined": "XP_005245908.1:p.Gln1156_Leu1603delinsThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057402" }, { "coordinates": [ { "allele": "T", "end": 4196, "referenceAllele": "C", "start": 4195 } ], "gene": "http://reg.genome.network/gene/GN025230", "geneNCBI_id": 27245, "geneSymbol": "AHDC1", "hgvs": [ "XM_005245852.2:c.3466C>T" ], "proteinEffect": { "hgvs": "XP_005245909.1:p.Gln1156Ter", "hgvsWellDefined": "XP_005245909.1:p.Gln1156_Leu1603delinsThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057403" }, { "coordinates": [ { "allele": "T", "end": 4211, "referenceAllele": "C", "start": 4210 } ], "gene": "http://reg.genome.network/gene/GN025230", "geneNCBI_id": 27245, "geneSymbol": "AHDC1", "hgvs": [ "XM_011541255.1:c.3466C>T" ], "proteinEffect": { "hgvs": "XP_011539557.1:p.Gln1156Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS108197" }, { "coordinates": [ { "allele": "T", "end": 4541, "referenceAllele": "C", "start": 4540 } ], "gene": "http://reg.genome.network/gene/GN025230", "geneNCBI_id": 27245, "geneSymbol": "AHDC1", "hgvs": [ "XM_011541256.1:c.3466C>T" ], "proteinEffect": { "hgvs": "XP_011539558.1:p.Gln1156Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS108198" }, { "coordinates": [ { "allele": "T", "end": 4119, "referenceAllele": "C", "start": 4118 } ], "gene": "http://reg.genome.network/gene/GN025230", "geneNCBI_id": 27245, "geneSymbol": "AHDC1", "hgvs": [ "XM_011541257.1:c.3466C>T" ], "proteinEffect": { "hgvs": "XP_011539559.1:p.Gln1156Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS108199" }, { "coordinates": [ { "allele": "T", "end": 4423, "referenceAllele": "C", "start": 4422 } ], "gene": "http://reg.genome.network/gene/GN025230", "geneNCBI_id": 27245, "geneSymbol": "AHDC1", "hgvs": [ "XR_946609.1:n.4423C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS140193" }, { "coordinates": [ { "allele": "T", "end": 4532, "referenceAllele": "C", "start": 4531 } ], "gene": "http://reg.genome.network/gene/GN025230", "geneNCBI_id": 27245, "geneSymbol": "AHDC1", "hgvs": [ "XM_005245848.3:c.3466C>T" ], "proteinEffect": { "hgvs": "XP_005245905.1:p.Gln1156Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS532515" }, { "coordinates": [ { "allele": "T", "end": 4637, "referenceAllele": "C", "start": 4636 } ], "gene": "http://reg.genome.network/gene/GN025230", "geneNCBI_id": 27245, "geneSymbol": "AHDC1", "hgvs": [ "XM_005245849.3:c.3466C>T" ], "proteinEffect": { "hgvs": "XP_005245906.1:p.Gln1156Ter", "hgvsWellDefined": "XP_005245906.1:p.Gln1156_Leu1603delinsThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS532516" }, { "coordinates": [ { "allele": "T", "end": 4657, "referenceAllele": "C", "start": 4656 } ], "gene": "http://reg.genome.network/gene/GN025230", "geneNCBI_id": 27245, "geneSymbol": "AHDC1", "hgvs": [ "XM_005245850.3:c.3466C>T" ], "proteinEffect": { "hgvs": "XP_005245907.1:p.Gln1156Ter", "hgvsWellDefined": "XP_005245907.1:p.Gln1156_Leu1603delinsThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS532517" }, { "coordinates": [ { "allele": "T", "end": 4529, "referenceAllele": "C", "start": 4528 } ], "gene": "http://reg.genome.network/gene/GN025230", "geneNCBI_id": 27245, "geneSymbol": "AHDC1", "hgvs": [ "XM_005245851.3:c.3466C>T" ], "proteinEffect": { "hgvs": "XP_005245908.1:p.Gln1156Ter", "hgvsWellDefined": "XP_005245908.1:p.Gln1156_Leu1603delinsThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS532518" }, { "coordinates": [ { "allele": "T", "end": 4306, "referenceAllele": "C", "start": 4305 } ], "gene": "http://reg.genome.network/gene/GN025230", "geneNCBI_id": 27245, "geneSymbol": "AHDC1", "hgvs": [ "XM_005245852.3:c.3466C>T" ], "proteinEffect": { "hgvs": "XP_005245909.1:p.Gln1156Ter", "hgvsWellDefined": "XP_005245909.1:p.Gln1156_Leu1603delinsThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS532519" }, { "coordinates": [ { "allele": "T", "end": 4651, "referenceAllele": "C", "start": 4650 } ], "gene": "http://reg.genome.network/gene/GN025230", "geneNCBI_id": 27245, "geneSymbol": "AHDC1", "hgvs": [ "XM_011541256.2:c.3466C>T" ], "proteinEffect": { "hgvs": "XP_011539558.1:p.Gln1156Ter", "hgvsWellDefined": "XP_011539558.1:p.Gln1156_Leu1603delinsThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554365" }, { "coordinates": [ { "allele": "T", "end": 5406, "referenceAllele": "C", "start": 5405 } ], "gene": "http://reg.genome.network/gene/GN025230", "geneNCBI_id": 27245, "geneSymbol": "AHDC1", "hgvs": [ "XM_011541257.2:c.3466C>T" ], "proteinEffect": { "hgvs": "XP_011539559.1:p.Gln1156Ter", "hgvsWellDefined": "XP_011539559.1:p.Gln1156_Leu1603delinsThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554366" }, { "coordinates": [ { "allele": "T", "end": 4614, "referenceAllele": "C", "start": 4613 } ], "gene": "http://reg.genome.network/gene/GN025230", "geneNCBI_id": 27245, "geneSymbol": "AHDC1", "hgvs": [ "XM_024446461.1:c.3466C>T" ], "proteinEffect": { "hgvs": "XP_024302229.1:p.Gln1156Ter", "hgvsWellDefined": "XP_024302229.1:p.Gln1156_Leu1603delinsThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580123" }, { "coordinates": [ { "allele": "T", "end": 4533, "referenceAllele": "C", "start": 4532 } ], "gene": "http://reg.genome.network/gene/GN025230", "geneNCBI_id": 27245, "geneSymbol": "AHDC1", "hgvs": [ "XR_946609.2:n.4533C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS614392" }, { "@id": "http://reg.genome.network/allele/PA2573072535", "coordinates": [ { "allele": "T", "end": 4367, "referenceAllele": "C", "start": 4366 } ], "gene": "http://reg.genome.network/gene/GN025230", "geneNCBI_id": 27245, "geneSymbol": "AHDC1", "hgvs": [ "NM_001371928.1:c.3466C>T" ], "proteinEffect": { "hgvs": "NP_001358857.1:p.Gln1156Ter", "hgvsWellDefined": "NP_001358857.1:p.Gln1156_Leu1603delinsThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693074", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000673934.1:c.3466C>T" }, "RefSeq": { "hgvs": "NM_001371928.1:c.3466C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000501218.1:p.Gln1156Ter" }, "RefSeq": { "hgvs": "NP_001358857.1:p.Gln1156Ter" } } } } ], "type": "nucleotide" }