{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA339224288", "communityStandardTitle": [ "NM_001371928.1(AHDC1):c.3989C>A (p.Ser1330Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=984636[alleleid]", "alleleId": 984636, "preferredName": "NM_001371928.1(AHDC1):c.3989C>A (p.Ser1330Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/996932", "RCV": [ "RCV001563701" ], "variationId": 996932 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.27874638G>T?assembly=hg19", "id": "chr1:g.27874638G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.27548127G>T?assembly=hg38", "id": "chr1:g.27548127G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/199659346", "rs": 199659346 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-27548127-G-T?dataset=gnomad_r4", "id": "1-27548127-G-T", "variant": "1:27548127 G / T" } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 27548127, "referenceAllele": "G", "start": 27548126 } ], "hgvs": [ "NC_000001.11:g.27548127G>T", "CM000663.2:g.27548127G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 27874638, "referenceAllele": "G", "start": 27874637 } ], "hgvs": [ "NC_000001.10:g.27874638G>T", "CM000663.1:g.27874638G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 27747225, "referenceAllele": "G", "start": 27747224 } ], "hgvs": [ "NC_000001.9:g.27747225G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "A", "end": 60368, "referenceAllele": "C", "start": 60367 } ], "hgvs": [ "NG_034158.1:g.60368C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS005786" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 4587, "referenceAllele": "C", "start": 4586 } ], "gene": "http://reg.genome.network/gene/GN025230", "geneNCBI_id": 27245, "geneSymbol": "AHDC1", "hgvs": [ "ENST00000247087.10:c.3989C>A" ], "proteinEffect": { "hgvs": "ENSP00000247087.4:p.Ser1330Ter", "hgvsWellDefined": "ENSP00000247087.4:p.Ser1330_Leu1603delinsArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS741322" }, { "coordinates": [ { "allele": "A", "end": 4890, "referenceAllele": "C", "start": 4889 } ], "gene": "http://reg.genome.network/gene/GN025230", "geneNCBI_id": 27245, "geneSymbol": "AHDC1", "hgvs": [ "ENST00000642245.1:c.3989C>A" ], "proteinEffect": { "hgvs": "ENSP00000495072.1:p.Ser1330Ter", "hgvsWellDefined": "ENSP00000495072.1:p.Ser1330_Leu1603delinsArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766637" }, { "coordinates": [ { "allele": "A", "end": 4612, "referenceAllele": "C", "start": 4611 } ], "gene": "http://reg.genome.network/gene/GN025230", "geneNCBI_id": 27245, "geneSymbol": "AHDC1", "hgvs": [ "ENST00000642416.1:c.3989C>A" ], "proteinEffect": { "hgvs": "ENSP00000494394.1:p.Ser1330Ter", "hgvsWellDefined": "ENSP00000494394.1:p.Ser1330_Leu1603delinsArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766729" }, { "coordinates": [ { "allele": "A", "end": 4593, "referenceAllele": "C", "start": 4592 } ], "gene": "http://reg.genome.network/gene/GN025230", "geneNCBI_id": 27245, "geneSymbol": "AHDC1", "hgvs": [ "ENST00000644989.1:c.3989C>A" ], "proteinEffect": { "hgvs": "ENSP00000495665.1:p.Ser1330Ter", "hgvsWellDefined": "ENSP00000495665.1:p.Ser1330_Leu1603delinsArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768110" }, { "coordinates": [ { "allele": "A", "end": 4890, "referenceAllele": "C", "start": 4889 } ], "gene": "http://reg.genome.network/gene/GN025230", "geneNCBI_id": 27245, "geneSymbol": "AHDC1", "hgvs": [ "ENST00000673934.1:c.3989C>A" ], "proteinEffect": { "hgvs": "ENSP00000501218.1:p.Ser1330Ter", "hgvsWellDefined": "ENSP00000501218.1:p.Ser1330_Leu1603delinsArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS773988", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000673934.1:c.3989C>A" }, "RefSeq": { "hgvs": "NM_001371928.1:c.3989C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000501218.1:p.Ser1330Ter" }, "RefSeq": { "hgvs": "NP_001358857.1:p.Ser1330Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 4586, "referenceAllele": "C", "start": 4585 } ], "gene": "http://reg.genome.network/gene/GN025230", "geneNCBI_id": 27245, "geneSymbol": "AHDC1", "hgvs": [ "ENST00000247087.9:c.3989C>A" ], "proteinEffect": { "hgvs": "ENSP00000247087.4:p.Ser1330Ter", "hgvsWellDefined": "ENSP00000247087.4:p.Ser1330_Leu1603delinsArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS249493" }, { "coordinates": [ { "allele": "A", "end": 4958, "referenceAllele": "C", "start": 4957 } ], "gene": "http://reg.genome.network/gene/GN025230", "geneNCBI_id": 27245, "geneSymbol": "AHDC1", "hgvs": [ "ENST00000374011.6:c.3989C>A" ], "proteinEffect": { "hgvs": "ENSP00000363123.2:p.Ser1330Ter", "hgvsWellDefined": "ENSP00000363123.2:p.Ser1330_Leu1603delinsArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS270020" }, { "@id": "http://reg.genome.network/allele/PA2825344312", "coordinates": [ { "allele": "A", "end": 4820, "referenceAllele": "C", "start": 4819 } ], "gene": "http://reg.genome.network/gene/GN025230", "geneNCBI_id": 27245, "geneSymbol": "AHDC1", "hgvs": [ "NM_001029882.3:c.3989C>A" ], "proteinEffect": { "hgvs": "NP_001025053.1:p.Ser1330Ter", "hgvsWellDefined": "NP_001025053.1:p.Ser1330_Leu1603delinsArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS008930" }, { "coordinates": [ { "allele": "A", "end": 4945, "referenceAllele": "C", "start": 4944 } ], "gene": "http://reg.genome.network/gene/GN025230", "geneNCBI_id": 27245, "geneSymbol": "AHDC1", "hgvs": [ "XM_005245848.2:c.3989C>A" ], "proteinEffect": { "hgvs": "XP_005245905.1:p.Ser1330Ter", "hgvsWellDefined": "XP_005245905.1:p.Ser1330_Leu1603delinsArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057399" }, { "coordinates": [ { "allele": "A", "end": 5050, "referenceAllele": "C", "start": 5049 } ], "gene": "http://reg.genome.network/gene/GN025230", "geneNCBI_id": 27245, "geneSymbol": "AHDC1", "hgvs": [ "XM_005245849.2:c.3989C>A" ], "proteinEffect": { "hgvs": "XP_005245906.1:p.Ser1330Ter", "hgvsWellDefined": "XP_005245906.1:p.Ser1330_Leu1603delinsArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057400" }, { "coordinates": [ { "allele": "A", "end": 5070, "referenceAllele": "C", "start": 5069 } ], "gene": "http://reg.genome.network/gene/GN025230", "geneNCBI_id": 27245, "geneSymbol": "AHDC1", "hgvs": [ "XM_005245850.2:c.3989C>A" ], "proteinEffect": { "hgvs": "XP_005245907.1:p.Ser1330Ter", "hgvsWellDefined": "XP_005245907.1:p.Ser1330_Leu1603delinsArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057401" }, { "coordinates": [ { "allele": "A", "end": 4942, "referenceAllele": "C", "start": 4941 } ], "gene": "http://reg.genome.network/gene/GN025230", "geneNCBI_id": 27245, "geneSymbol": "AHDC1", "hgvs": [ "XM_005245851.2:c.3989C>A" ], "proteinEffect": { "hgvs": "XP_005245908.1:p.Ser1330Ter", "hgvsWellDefined": "XP_005245908.1:p.Ser1330_Leu1603delinsArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057402" }, { "coordinates": [ { "allele": "A", "end": 4719, "referenceAllele": "C", "start": 4718 } ], "gene": "http://reg.genome.network/gene/GN025230", "geneNCBI_id": 27245, "geneSymbol": "AHDC1", "hgvs": [ "XM_005245852.2:c.3989C>A" ], "proteinEffect": { "hgvs": "XP_005245909.1:p.Ser1330Ter", "hgvsWellDefined": "XP_005245909.1:p.Ser1330_Leu1603delinsArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057403" }, { "coordinates": [ { "allele": "A", "end": 4734, "referenceAllele": "C", "start": 4733 } ], "gene": "http://reg.genome.network/gene/GN025230", "geneNCBI_id": 27245, "geneSymbol": "AHDC1", "hgvs": [ "XM_011541255.1:c.3989C>A" ], "proteinEffect": { "hgvs": "XP_011539557.1:p.Ser1330Ter", "hgvsWellDefined": "XP_011539557.1:p.Ser1330_Leu1603delinsArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108197" }, { "coordinates": [ { "allele": "A", "end": 5064, "referenceAllele": "C", "start": 5063 } ], "gene": "http://reg.genome.network/gene/GN025230", "geneNCBI_id": 27245, "geneSymbol": "AHDC1", "hgvs": [ "XM_011541256.1:c.3989C>A" ], "proteinEffect": { "hgvs": "XP_011539558.1:p.Ser1330Ter", "hgvsWellDefined": "XP_011539558.1:p.Ser1330_Leu1603delinsArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108198" }, { "coordinates": [ { "allele": "A", "end": 4642, "referenceAllele": "C", "start": 4641 } ], "gene": "http://reg.genome.network/gene/GN025230", "geneNCBI_id": 27245, "geneSymbol": "AHDC1", "hgvs": [ "XM_011541257.1:c.3989C>A" ], "proteinEffect": { "hgvs": "XP_011539559.1:p.Ser1330Ter", "hgvsWellDefined": "XP_011539559.1:p.Ser1330_Leu1603delinsArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108199" }, { "coordinates": [ { "allele": "A", "end": 4946, "referenceAllele": "C", "start": 4945 } ], "gene": "http://reg.genome.network/gene/GN025230", "geneNCBI_id": 27245, "geneSymbol": "AHDC1", "hgvs": [ "XR_946609.1:n.4946C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS140193" }, { "coordinates": [ { "allele": "A", "end": 5055, "referenceAllele": "C", "start": 5054 } ], "gene": "http://reg.genome.network/gene/GN025230", "geneNCBI_id": 27245, "geneSymbol": "AHDC1", "hgvs": [ "XM_005245848.3:c.3989C>A" ], "proteinEffect": { "hgvs": "XP_005245905.1:p.Ser1330Ter", "hgvsWellDefined": "XP_005245905.1:p.Ser1330_Leu1603delinsArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS532515" }, { "coordinates": [ { "allele": "A", "end": 5160, "referenceAllele": "C", "start": 5159 } ], "gene": "http://reg.genome.network/gene/GN025230", "geneNCBI_id": 27245, "geneSymbol": "AHDC1", "hgvs": [ "XM_005245849.3:c.3989C>A" ], "proteinEffect": { "hgvs": "XP_005245906.1:p.Ser1330Ter", "hgvsWellDefined": "XP_005245906.1:p.Ser1330_Leu1603delinsArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS532516" }, { "coordinates": [ { "allele": "A", "end": 5180, "referenceAllele": "C", "start": 5179 } ], "gene": "http://reg.genome.network/gene/GN025230", "geneNCBI_id": 27245, "geneSymbol": "AHDC1", "hgvs": [ "XM_005245850.3:c.3989C>A" ], "proteinEffect": { "hgvs": "XP_005245907.1:p.Ser1330Ter", "hgvsWellDefined": "XP_005245907.1:p.Ser1330_Leu1603delinsArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS532517" }, { "coordinates": [ { "allele": "A", "end": 5052, "referenceAllele": "C", "start": 5051 } ], "gene": "http://reg.genome.network/gene/GN025230", "geneNCBI_id": 27245, "geneSymbol": "AHDC1", "hgvs": [ "XM_005245851.3:c.3989C>A" ], "proteinEffect": { "hgvs": "XP_005245908.1:p.Ser1330Ter", "hgvsWellDefined": "XP_005245908.1:p.Ser1330_Leu1603delinsArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS532518" }, { "coordinates": [ { "allele": "A", "end": 4829, "referenceAllele": "C", "start": 4828 } ], "gene": "http://reg.genome.network/gene/GN025230", "geneNCBI_id": 27245, "geneSymbol": "AHDC1", "hgvs": [ "XM_005245852.3:c.3989C>A" ], "proteinEffect": { "hgvs": "XP_005245909.1:p.Ser1330Ter", "hgvsWellDefined": "XP_005245909.1:p.Ser1330_Leu1603delinsArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS532519" }, { "coordinates": [ { "allele": "A", "end": 5174, "referenceAllele": "C", "start": 5173 } ], "gene": "http://reg.genome.network/gene/GN025230", "geneNCBI_id": 27245, "geneSymbol": "AHDC1", "hgvs": [ "XM_011541256.2:c.3989C>A" ], "proteinEffect": { "hgvs": "XP_011539558.1:p.Ser1330Ter", "hgvsWellDefined": "XP_011539558.1:p.Ser1330_Leu1603delinsArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554365" }, { "coordinates": [ { "allele": "A", "end": 5929, "referenceAllele": "C", "start": 5928 } ], "gene": "http://reg.genome.network/gene/GN025230", "geneNCBI_id": 27245, "geneSymbol": "AHDC1", "hgvs": [ "XM_011541257.2:c.3989C>A" ], "proteinEffect": { "hgvs": "XP_011539559.1:p.Ser1330Ter", "hgvsWellDefined": "XP_011539559.1:p.Ser1330_Leu1603delinsArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554366" }, { "coordinates": [ { "allele": "A", "end": 5137, "referenceAllele": "C", "start": 5136 } ], "gene": "http://reg.genome.network/gene/GN025230", "geneNCBI_id": 27245, "geneSymbol": "AHDC1", "hgvs": [ "XM_024446461.1:c.3989C>A" ], "proteinEffect": { "hgvs": "XP_024302229.1:p.Ser1330Ter", "hgvsWellDefined": "XP_024302229.1:p.Ser1330_Leu1603delinsArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580123" }, { "coordinates": [ { "allele": "A", "end": 5056, "referenceAllele": "C", "start": 5055 } ], "gene": "http://reg.genome.network/gene/GN025230", "geneNCBI_id": 27245, "geneSymbol": "AHDC1", "hgvs": [ "XR_946609.2:n.5056C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS614392" }, { "@id": "http://reg.genome.network/allele/PA2499254735", "coordinates": [ { "allele": "A", "end": 4890, "referenceAllele": "C", "start": 4889 } ], "gene": "http://reg.genome.network/gene/GN025230", "geneNCBI_id": 27245, "geneSymbol": "AHDC1", "hgvs": [ "NM_001371928.1:c.3989C>A" ], "proteinEffect": { "hgvs": "NP_001358857.1:p.Ser1330Ter", "hgvsWellDefined": "NP_001358857.1:p.Ser1330_Leu1603delinsArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693074", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000673934.1:c.3989C>A" }, "RefSeq": { "hgvs": "NM_001371928.1:c.3989C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000501218.1:p.Ser1330Ter" }, "RefSeq": { "hgvs": "NP_001358857.1:p.Ser1330Ter" } } } } ], "type": "nucleotide" }