{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA9750579", "communityStandardTitle": [ "NM_001386393.1(PANK2):c.104C>A (p.Ser35Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2797397[alleleid]", "alleleId": 2797397, "preferredName": "NM_001386393.1(PANK2):c.104C>A (p.Ser35Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2634258", "RCV": [ "RCV003417114", "RCV003502731" ], "variationId": 2634258 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/20-3870181-C-A", "id": "20-3870181-C-A", "variant": "20:3870181 C / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr20:g.3870181C>A?assembly=hg19", "id": "chr20:g.3870181C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr20:g.3889534C>A?assembly=hg38", "id": "chr20:g.3889534C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/777111649", "rs": 777111649 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/20-3870181-C-A?dataset=gnomad_r2_1", "id": "20-3870181-C-A", "variant": "20:3870181 C / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/20-3889534-C-A?dataset=gnomad_r3", "id": "20-3889534-C-A", "variant": "20:3889534 C / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/20-3889534-C-A?dataset=gnomad_r4", "id": "20-3889534-C-A", "variant": "20:3889534 C / A" } ] }, "genomicAlleles": [ { "chromosome": "20", "coordinates": [ { "allele": "A", "end": 3889534, "referenceAllele": "C", "start": 3889533 } ], "hgvs": [ "NC_000020.11:g.3889534C>A", "CM000682.2:g.3889534C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000068" }, { "chromosome": "20", "coordinates": [ { "allele": "A", "end": 3870181, "referenceAllele": "C", "start": 3870180 } ], "hgvs": [ 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}, "referenceSequence": "http://reg.genome.network/refseq/RS826386", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000610179.7:c.104C>A" }, "RefSeq": { "hgvs": "NM_001386393.1:c.104C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000477429.2:p.Ser35Ter" }, "RefSeq": { "hgvs": "NP_001373322.1:p.Ser35Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 612, "referenceAllele": "C", "start": 611 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "ENST00000316562.9:c.434C>A" ], "proteinEffect": { "hgvs": "ENSP00000313377.4:p.Ser145Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS746071" }, { "coordinates": [ { "allele": "A", "end": 146, "referenceAllele": "C", "start": 145 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "ENST00000336066.8:c.104C>A" ], "proteinEffect": { "hgvs": "ENSP00000477229.2:p.Ser35Ter", "hgvsWellDefined": "ENSP00000477229.2:p.Ser36_Arg171delinsAlaGlyGluGlnAlaAlaGlyAspProGluGlyArgArgGlnGluProLeuArgArgArgAlaSerSerAlaSerValProAlaValGlyAlaSerAlaGluGlyThrArgArgAspArgLeuGlySerTyrSerGlyProThrSerValSerArgGlnArgValGluSerLeuArgLysLysArgProLeuPheProTrpPheGlyLeuAspIleGlyGlyThrLeuValLysLeuValTyrPheGluProLysAspIleThrAlaGluGluGluGluGluGluValGluSerLeuLysSerIleArgLysTyrLeuThrSerAsnValAlaTyrGlySerThrGlyIleArgAspValHisLeuGluLeuLysAspLeuThrLeuCysGlyArgLysAspArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS747545" }, { "coordinates": [ { "allele": "A", "end": 148, "referenceAllele": "C", "start": 147 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "ENST00000610179.6:c.104C>A" ], "proteinEffect": { "hgvs": "ENSP00000477429.2:p.Ser35Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS761766" }, { "coordinates": [ { "allele": "A", "end": 148, "referenceAllele": "C", "start": 147 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "ENST00000643504.2:c.104C>A" ], "proteinEffect": { "hgvs": "ENSP00000495157.2:p.Ser35Ter", "hgvsWellDefined": "ENSP00000495157.2:p.Ser36_Leu154delinsAlaGlyGluGlnAlaAlaGlyAspProGluGlyArgArgGlnGluProLeuArgArgArgAlaSerSerAlaSerValProAlaValGlyAlaSerAlaGluGlyThrArgArgAspArgLeuGlySerTyrSerGlyProThrSerValSerArgGlnArgValGluSerLeuArgLysLysArgProGlnMetGlySerLeuMetLeuProArgLeuValLeuAsnSerSerTrpSerGlnAlaIlePheProLeuArgProProLysValLeuGlyTyrArgArgGluProLeuCysProThrTrpGlnSerSerThrLysSerPheGlyAsnSerLeuAlaSerTrpLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767317" }, { "coordinates": [ { "allele": "A", "end": 440, "referenceAllele": "C", "start": 439 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "ENST00000316562.8:c.434C>A" ], "proteinEffect": { "hgvs": "ENSP00000313377.4:p.Ser145Ter", "hgvsWellDefined": "ENSP00000313377.4:p.Ser146_Pro570delinsAlaGlyGluGlnAlaAlaGlyAspProGluGlyArgArgGlnGluProLeuArgArgArgAlaSerSerAlaSerValProAlaValGlyAlaSerAlaGluGlyThrArgArgAspArgLeuGlySerTyrSerGlyProThrSerValSerArgGlnArgValGluSerLeuArgLysLysArgProLeuPheProTrpPheGlyLeuAspIleGlyGlyThrLeuValLysLeuValTyrPheGluProLysAspIleThrAlaGluGluGluGluGluGluValGluSerLeuLysSerIleArgLysTyrLeuThrSerAsnValAlaTyrGlySerThrGlyIleArgAspValHisLeuGluLeuLysAspLeuThrLeuCysGlyArgLysGlyAsnLeuHisPheIleArgPheProThrHisAspMetProAlaPheIleGlnMetGlyArgAspLysAsnPheSerSerLeuHisThrValPheCysAlaThrGlyGlyGlyAlaTyrLysPheGluGlnAspPheLeuThrIleGlyAspLeuGlnLeuCysLysLeuAspGluLeuAspCysLeuIleLysGlyIleLeuTyrIleAspSerValGlyPheAsnGlyArgSerGlnCysTyrTyrPheGluAsnProAlaAspSerGluLysCysGlnLysLeuProPheAspLeuLysAsnProTyrProLeuLeuLeuValAsnIleGlySerGlyValSerIleLeuAlaValTyrSerLysAspAsnTyrLysArgValThrGlyThrSerLeuGlyGlyGlyThrPhePheGlyLeuCysCysLeuLeuThrGlyCysThrThrPheGluGluAlaLeuGluMetAlaSerArgGlyAspSerThrLysValAspLysLeuValArgAspIleTyrGlyGlyAspTyrGluArgPheGlyLeuProGlyTrpAlaValAlaSerSerPheGlyAsnMetMetSerLysGluLysArgGluAlaValSerLysGluAspLeuAlaArgAlaThrLeuIleThrIleThrAsnAsnIleGlySerIleAlaArgMetCysAlaLeuAsnGluAsnIleAsnGlnValValPheValGlyAsnPheLeuArgIleAsnThrIleAlaMetArgLeuLeuAlaTyrAlaLeuAspTyrTrpSerLysGlyGlnLeuLysAlaLeuPheSerGluHisGluGlyTyrPheGlyAlaValGlyAlaLeuLeuGluLeuLeuLysIleProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS257247" }, { "coordinates": [ { "allele": "A", "end": 146, "referenceAllele": "C", "start": 145 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "ENST00000336066.7:c.65C>A" ], "proteinEffect": { "hgvs": "ENSP00000477229.1:p.Ser22Ter", "hgvsWellDefined": "ENSP00000477229.1:p.Ser23_Arg158delinsAlaGlyGluGlnAlaAlaGlyAspProGluGlyArgArgGlnGluProLeuArgArgArgAlaSerSerAlaSerValProAlaValGlyAlaSerAlaGluGlyThrArgArgAspArgLeuGlySerTyrSerGlyProThrSerValSerArgGlnArgValGluSerLeuArgLysLysArgProLeuPheProTrpPheGlyLeuAspIleGlyGlyThrLeuValLysLeuValTyrPheGluProLysAspIleThrAlaGluGluGluGluGluGluValGluSerLeuLysSerIleArgLysTyrLeuThrSerAsnValAlaTyrGlySerThrGlyIleArgAspValHisLeuGluLeuLysAspLeuThrLeuCysGlyArgLysAspArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS260236" }, { "coordinates": [ { "allele": "A", "end": 83, "endIntronDirection": "+", "endIntronOffset": 518, "referenceAllele": "C", "start": 83, "startIntronDirection": "+", "startIntronOffset": 517 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "ENST00000495692.5:c.-538+518C>A" ], "proteinEffect": { "hgvs": "ENSP00000476745.1:n.-538+518C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS332340" }, { "coordinates": [ { "allele": "A", "end": 66, "endIntronDirection": "+", "endIntronOffset": 630, "referenceAllele": "C", "start": 66, "startIntronDirection": "+", "startIntronOffset": 629 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "ENST00000497424.5:c.-246+630C>A" ], "proteinEffect": { "hgvs": "ENSP00000417609.1:n.-246+630C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS333665" }, { "coordinates": [ { "allele": "A", "end": 120, "referenceAllele": "C", "start": 119 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "ENST00000610179.5:c.65C>A" ], "proteinEffect": { "hgvs": "ENSP00000477429.1:p.Ser22Ter", "hgvsWellDefined": "ENSP00000477429.1:p.Ser23_Pro447delinsAlaGlyGluGlnAlaAlaGlyAspProGluGlyArgArgGlnGluProLeuArgArgArgAlaSerSerAlaSerValProAlaValGlyAlaSerAlaGluGlyThrArgArgAspArgLeuGlySerTyrSerGlyProThrSerValSerArgGlnArgValGluSerLeuArgLysLysArgProLeuPheProTrpPheGlyLeuAspIleGlyGlyThrLeuValLysLeuValTyrPheGluProLysAspIleThrAlaGluGluGluGluGluGluValGluSerLeuLysSerIleArgLysTyrLeuThrSerAsnValAlaTyrGlySerThrGlyIleArgAspValHisLeuGluLeuLysAspLeuThrLeuCysGlyArgLysGlyAsnLeuHisPheIleArgPheProThrHisAspMetProAlaPheIleGlnMetGlyArgAspLysAsnPheSerSerLeuHisThrValPheCysAlaThrGlyGlyGlyAlaTyrLysPheGluGlnAspPheLeuThrIleGlyAspLeuGlnLeuCysLysLeuAspGluLeuAspCysLeuIleLysGlyIleLeuTyrIleAspSerValGlyPheAsnGlyArgSerGlnCysTyrTyrPheGluAsnProAlaAspSerGluLysCysGlnLysLeuProPheAspLeuLysAsnProTyrProLeuLeuLeuValAsnIleGlySerGlyValSerIleLeuAlaValTyrSerLysAspAsnTyrLysArgValThrGlyThrSerLeuGlyGlyGlyThrPhePheGlyLeuCysCysLeuLeuThrGlyCysThrThrPheGluGluAlaLeuGluMetAlaSerArgGlyAspSerThrLysValAspLysLeuValArgAspIleTyrGlyGlyAspTyrGluArgPheGlyLeuProGlyTrpAlaValAlaSerSerPheGlyAsnMetMetSerLysGluLysArgGluAlaValSerLysGluAspLeuAlaArgAlaThrLeuIleThrIleThrAsnAsnIleGlySerIleAlaArgMetCysAlaLeuAsnGluAsnIleAsnGlnValValPheValGlyAsnPheLeuArgIleAsnThrIleAlaMetArgLeuLeuAlaTyrAlaLeuAspTyrTrpSerLysGlyGlnLeuLysAlaLeuPheSerGluHisGluGlyTyrPheGlyAlaValGlyAlaLeuLeuGluLeuLeuLysIleProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS400339" }, { "coordinates": [ { "allele": "A", "end": 66, "endIntronDirection": "+", "endIntronOffset": 630, "referenceAllele": "C", "start": 66, "startIntronDirection": "+", "startIntronOffset": 629 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "NM_024960.4:c.-246+630C>A" ], "proteinEffect": { "hgvs": "NP_079236.3:n.-246+630C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS038143" }, { "@id": "http://reg.genome.network/allele/PA2830331577", "coordinates": [ { "allele": "A", "end": 440, "referenceAllele": "C", "start": 439 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "NM_153638.2:c.434C>A" ], "proteinEffect": { "hgvs": "NP_705902.2:p.Ser145Ter", "hgvsWellDefined": "NP_705902.2:p.Ser146_Pro570delinsAlaGlyGluGlnAlaAlaGlyAspProGluGlyArgArgGlnGluProLeuArgArgArgAlaSerSerAlaSerValProAlaValGlyAlaSerAlaGluGlyThrArgArgAspArgLeuGlySerTyrSerGlyProThrSerValSerArgGlnArgValGluSerLeuArgLysLysArgProLeuPheProTrpPheGlyLeuAspIleGlyGlyThrLeuValLysLeuValTyrPheGluProLysAspIleThrAlaGluGluGluGluGluGluValGluSerLeuLysSerIleArgLysTyrLeuThrSerAsnValAlaTyrGlySerThrGlyIleArgAspValHisLeuGluLeuLysAspLeuThrLeuCysGlyArgLysGlyAsnLeuHisPheIleArgPheProThrHisAspMetProAlaPheIleGlnMetGlyArgAspLysAsnPheSerSerLeuHisThrValPheCysAlaThrGlyGlyGlyAlaTyrLysPheGluGlnAspPheLeuThrIleGlyAspLeuGlnLeuCysLysLeuAspGluLeuAspCysLeuIleLysGlyIleLeuTyrIleAspSerValGlyPheAsnGlyArgSerGlnCysTyrTyrPheGluAsnProAlaAspSerGluLysCysGlnLysLeuProPheAspLeuLysAsnProTyrProLeuLeuLeuValAsnIleGlySerGlyValSerIleLeuAlaValTyrSerLysAspAsnTyrLysArgValThrGlyThrSerLeuGlyGlyGlyThrPhePheGlyLeuCysCysLeuLeuThrGlyCysThrThrPheGluGluAlaLeuGluMetAlaSerArgGlyAspSerThrLysValAspLysLeuValArgAspIleTyrGlyGlyAspTyrGluArgPheGlyLeuProGlyTrpAlaValAlaSerSerPheGlyAsnMetMetSerLysGluLysArgGluAlaValSerLysGluAspLeuAlaArgAlaThrLeuIleThrIleThrAsnAsnIleGlySerIleAlaArgMetCysAlaLeuAsnGluAsnIleAsnGlnValValPheValGlyAsnPheLeuArgIleAsnThrIleAlaMetArgLeuLeuAlaTyrAlaLeuAspTyrTrpSerLysGlyGlnLeuLysAlaLeuPheSerGluHisGluGlyTyrPheGlyAlaValGlyAlaLeuLeuGluLeuLeuLysIleProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS042447" }, { "coordinates": [ { "allele": "A", "end": 72, "endIntronDirection": "+", "endIntronOffset": 518, "referenceAllele": "C", "start": 72, "startIntronDirection": "+", "startIntronOffset": 517 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "XM_005260836.3:c.-246+518C>A" ], "proteinEffect": { "hgvs": "XP_005260893.3:n.-246+518C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS062945" }, { "coordinates": [ { "allele": "A", "end": 495, "referenceAllele": "C", "start": 494 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "XM_011529364.1:c.434C>A" ], "proteinEffect": { "hgvs": "XP_011527666.1:p.Ser145Ter", "hgvsWellDefined": "XP_011527666.1:p.Ser146_Pro511delinsAlaGlyGluGlnAlaAlaGlyAspProGluGlyArgArgGlnGluProLeuArgArgArgAlaSerSerAlaSerValProAlaValGlyAlaSerAlaGluGlyThrArgArgAspArgLeuGlySerTyrSerGlyProThrSerValSerArgGlnArgValGluSerLeuArgLysLysArgProLeuPheProTrpPheGlyLeuAspIleGlyGlyThrLeuValLysLeuValTyrPheGluProLysAspIleThrAlaGluGluGluGluGluGluValGluSerLeuLysSerIleArgLysTyrLeuThrSerAsnValAlaTyrGlySerThrGlyIleArgAspValHisLeuGluLeuLysAspLeuThrLeuCysGlyArgLysGlyAsnLeuHisPheIleArgPheProThrHisAspMetProAlaPheIleGlnMetGlyArgAspLysAsnPheSerSerLeuHisThrValPheCysAlaThrGlyGlyGlyAlaTyrLysPheGluGlnAspPheLeuThrIleGlyAspLeuGlnLeuCysLysLeuAspGluLeuAspCysLeuIleLysGlyIleLeuTyrIleAspSerValGlyPheAsnGlyArgSerGlnCysTyrTyrPheGluAsnProAlaAspSerGluLysCysGlnLysLeuProPheAspLeuLysAsnProTyrProLeuLeuLeuValAsnIleGlySerGlyValSerIleLeuAlaValTyrSerLysAspAsnTyrLysArgValThrGlyThrSerPheGlyAsnMetMetSerLysGluLysArgGluAlaValSerLysGluAspLeuAlaArgAlaThrLeuIleThrIleThrAsnAsnIleGlySerIleAlaArgMetCysAlaLeuAsnGluAsnIleAsnGlnValValPheValGlyAsnPheLeuArgIleAsnThrIleAlaMetArgLeuLeuAlaTyrAlaLeuAspTyrTrpSerLysGlyGlnLeuLysAlaLeuPheSerGluHisGluGlyTyrPheGlyAlaValGlyAlaLeuLeuGluLeuLeuLysIleProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS096433" }, { "coordinates": [ { "allele": "A", "end": 512, "referenceAllele": "C", "start": 511 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "XM_011529365.1:c.434C>A" ], "proteinEffect": { "hgvs": "XP_011527667.1:p.Ser145Ter", "hgvsWellDefined": "XP_011527667.1:p.Ser146_His286delinsAlaGlyGluGlnAlaAlaGlyAspProGluGlyArgArgGlnGluProLeuArgArgArgAlaSerSerAlaSerValProAlaValGlyAlaSerAlaGluGlyThrArgArgAspArgLeuGlySerTyrSerGlyProThrSerValSerArgGlnArgValGluSerLeuArgLysLysArgProLeuPheProTrpPheGlyLeuAspIleGlyGlyThrLeuValLysLeuValTyrPheGluProLysAspIleThrAlaGluGluGluGluGluGluValGluSerLeuLysSerIleArgLysTyrLeuThrSerAsnValAlaTyrGlySerThrGlyIleArgAspValHisLeuGluLeuLysAspLeuThrLeuCysGlyArgLysValValCysTrpHisValHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS096434" }, { "coordinates": [ { "allele": "A", "end": 601, "referenceAllele": "C", "start": 600 } ], 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"NP_001311121.1:p.Ser146_Phe331delinsAlaGlyGluGlnAlaAlaGlyAspProGluGlyArgArgGlnGluProLeuArgArgArgAlaSerSerAlaSerValProAlaValGlyAlaSerAlaGluGlyThrArgArgAspArgLeuGlySerTyrSerGlyProThrSerValSerArgGlnArgValGluSerLeuArgLysLysArgProLeuPheProTrpPheGlyLeuAspIleGlyGlyThrLeuValLysLeuValTyrPheGluProLysAspIleThrAlaGluGluGluGluGluGluValGluSerLeuLysSerIleArgLysTyrLeuThrSerAsnValAlaTyrGlySerThrGlyIleArgAspValHisLeuGluLeuLysAspLeuThrLeuCysGlyArgLysGlyAsnLeuHisPheIleArgPheProThrHisAspMetProAlaPheIleGlnMetGlyArgAspLysAsnPheSerSerLeuHisThrValPheCysAlaThrGlyGlyGlyAlaTyrLysPheGluGlnAspPheLeuThrValCysIlePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS515804" }, { "coordinates": [ { "allele": "A", "end": 66, "endIntronDirection": "+", "endIntronOffset": 630, "referenceAllele": "C", "start": 66, "startIntronDirection": "+", "startIntronOffset": 629 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "NM_024960.5:c.-246+630C>A" ], 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"NP_705902.2:p.Ser146_Pro570delinsAlaGlyGluGlnAlaAlaGlyAspProGluGlyArgArgGlnGluProLeuArgArgArgAlaSerSerAlaSerValProAlaValGlyAlaSerAlaGluGlyThrArgArgAspArgLeuGlySerTyrSerGlyProThrSerValSerArgGlnArgValGluSerLeuArgLysLysArgProLeuPheProTrpPheGlyLeuAspIleGlyGlyThrLeuValLysLeuValTyrPheGluProLysAspIleThrAlaGluGluGluGluGluGluValGluSerLeuLysSerIleArgLysTyrLeuThrSerAsnValAlaTyrGlySerThrGlyIleArgAspValHisLeuGluLeuLysAspLeuThrLeuCysGlyArgLysGlyAsnLeuHisPheIleArgPheProThrHisAspMetProAlaPheIleGlnMetGlyArgAspLysAsnPheSerSerLeuHisThrValPheCysAlaThrGlyGlyGlyAlaTyrLysPheGluGlnAspPheLeuThrIleGlyAspLeuGlnLeuCysLysLeuAspGluLeuAspCysLeuIleLysGlyIleLeuTyrIleAspSerValGlyPheAsnGlyArgSerGlnCysTyrTyrPheGluAsnProAlaAspSerGluLysCysGlnLysLeuProPheAspLeuLysAsnProTyrProLeuLeuLeuValAsnIleGlySerGlyValSerIleLeuAlaValTyrSerLysAspAsnTyrLysArgValThrGlyThrSerLeuGlyGlyGlyThrPhePheGlyLeuCysCysLeuLeuThrGlyCysThrThrPheGluGluAlaLeuGluMetAlaSerArgGlyAspSerThrLysValAspLysLeuValArgAspIleTyrGlyGlyAspTyrGluArgPheGlyLeuProGlyTrpAlaValAlaSerSerPheGlyAsnMetMetSerLysGluLysArgGluAlaValSerLysGluAspLeuAlaArgAlaThrLeuIleThrIleThrAsnAsnIleGlySerIleAlaArgMetCysAlaLeuAsnGluAsnIleAsnGlnValValPheValGlyAsnPheLeuArgIleAsnThrIleAlaMetArgLeuLeuAlaTyrAlaLeuAspTyrTrpSerLysGlyGlnLeuLysAlaLeuPheSerGluHisGluGlyTyrPheGlyAlaValGlyAlaLeuLeuGluLeuLeuLysIleProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS526712" }, { "coordinates": [ { "allele": "A", "end": 601, "referenceAllele": "C", "start": 600 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "NR_136715.1:n.601C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS528990" }, { "coordinates": [ { "allele": "A", "end": 68, "endIntronDirection": "+", "endIntronOffset": 518, "referenceAllele": "C", "start": 68, "startIntronDirection": "+", "startIntronOffset": 517 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "XM_005260836.4:c.-246+518C>A" ], "proteinEffect": { "hgvs": "XP_005260893.3:n.-246+518C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS535250" }, { "coordinates": [ { "allele": "A", "end": 457, "referenceAllele": "C", "start": 456 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "XM_011529364.3:c.434C>A" ], "proteinEffect": { "hgvs": "XP_011527666.1:p.Ser145Ter", "hgvsWellDefined": "XP_011527666.1:p.Ser146_Pro511delinsAlaGlyGluGlnAlaAlaGlyAspProGluGlyArgArgGlnGluProLeuArgArgArgAlaSerSerAlaSerValProAlaValGlyAlaSerAlaGluGlyThrArgArgAspArgLeuGlySerTyrSerGlyProThrSerValSerArgGlnArgValGluSerLeuArgLysLysArgProLeuPheProTrpPheGlyLeuAspIleGlyGlyThrLeuValLysLeuValTyrPheGluProLysAspIleThrAlaGluGluGluGluGluGluValGluSerLeuLysSerIleArgLysTyrLeuThrSerAsnValAlaTyrGlySerThrGlyIleArgAspValHisLeuGluLeuLysAspLeuThrLeuCysGlyArgLysGlyAsnLeuHisPheIleArgPheProThrHisAspMetProAlaPheIleGlnMetGlyArgAspLysAsnPheSerSerLeuHisThrValPheCysAlaThrGlyGlyGlyAlaTyrLysPheGluGlnAspPheLeuThrIleGlyAspLeuGlnLeuCysLysLeuAspGluLeuAspCysLeuIleLysGlyIleLeuTyrIleAspSerValGlyPheAsnGlyArgSerGlnCysTyrTyrPheGluAsnProAlaAspSerGluLysCysGlnLysLeuProPheAspLeuLysAsnProTyrProLeuLeuLeuValAsnIleGlySerGlyValSerIleLeuAlaValTyrSerLysAspAsnTyrLysArgValThrGlyThrSerPheGlyAsnMetMetSerLysGluLysArgGluAlaValSerLysGluAspLeuAlaArgAlaThrLeuIleThrIleThrAsnAsnIleGlySerIleAlaArgMetCysAlaLeuAsnGluAsnIleAsnGlnValValPheValGlyAsnPheLeuArgIleAsnThrIleAlaMetArgLeuLeuAlaTyrAlaLeuAspTyrTrpSerLysGlyGlnLeuLysAlaLeuPheSerGluHisGluGlyTyrPheGlyAlaValGlyAlaLeuLeuGluLeuLeuLysIleProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS549476" }, { "coordinates": [ { "allele": "A", "end": 457, "referenceAllele": "C", "start": 456 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "XM_011529365.2:c.434C>A" ], "proteinEffect": { "hgvs": "XP_011527667.1:p.Ser145Ter", "hgvsWellDefined": "XP_011527667.1:p.Ser146_His286delinsAlaGlyGluGlnAlaAlaGlyAspProGluGlyArgArgGlnGluProLeuArgArgArgAlaSerSerAlaSerValProAlaValGlyAlaSerAlaGluGlyThrArgArgAspArgLeuGlySerTyrSerGlyProThrSerValSerArgGlnArgValGluSerLeuArgLysLysArgProLeuPheProTrpPheGlyLeuAspIleGlyGlyThrLeuValLysLeuValTyrPheGluProLysAspIleThrAlaGluGluGluGluGluGluValGluSerLeuLysSerIleArgLysTyrLeuThrSerAsnValAlaTyrGlySerThrGlyIleArgAspValHisLeuGluLeuLysAspLeuThrLeuCysGlyArgLysValValCysTrpHisValHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS549477" }, { "coordinates": [ { "allele": "A", "end": 95, "endIntronDirection": "+", "endIntronOffset": 518, "referenceAllele": "C", "start": 95, "startIntronDirection": "+", "startIntronOffset": 517 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "XM_017028079.2:c.-538+518C>A" ], "proteinEffect": { "hgvs": "XP_016883568.1:n.-538+518C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS577907" }, { "coordinates": [ { "allele": "A", "end": 82, "endIntronDirection": "+", "endIntronOffset": 630, "referenceAllele": "C", "start": 82, "startIntronDirection": "+", "startIntronOffset": 629 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "XM_024452002.1:c.-538+630C>A" ], "proteinEffect": { "hgvs": "XP_024307770.1:n.-538+630C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS585509" }, { "coordinates": [ { "allele": "A", "end": 595, "referenceAllele": "C", "start": 594 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "XR_002958533.1:n.595C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS604658" }, { "coordinates": [ { "allele": "A", "end": 148, "referenceAllele": "C", "start": 147 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "NM_001324191.2:c.-608C>A" ], "proteinEffect": { "hgvs": "NP_001311120.1:n.-608C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS686244" }, { "coordinates": [ { "allele": "A", "end": 124, "endIntronDirection": "+", "endIntronOffset": 630, "referenceAllele": "C", "start": 124, "startIntronDirection": "+", "startIntronOffset": 629 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "NM_024960.6:c.-246+630C>A" ], "proteinEffect": { "hgvs": "NP_079236.3:n.-246+630C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS698795" }, { "coordinates": [ { "allele": "A", "end": 148, "referenceAllele": "C", "start": 147 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "NR_136715.2:n.148C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS703943" }, { "@id": "http://reg.genome.network/allele/PA2741878344", "coordinates": [ { "allele": "A", "end": 148, "referenceAllele": "C", "start": 147 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "NM_001386393.1:c.104C>A" ], "proteinEffect": { "hgvs": "NP_001373322.1:p.Ser35Ter", "hgvsWellDefined": "NP_001373322.1:p.Ser36_Pro460delinsAlaGlyGluGlnAlaAlaGlyAspProGluGlyArgArgGlnGluProLeuArgArgArgAlaSerSerAlaSerValProAlaValGlyAlaSerAlaGluGlyThrArgArgAspArgLeuGlySerTyrSerGlyProThrSerValSerArgGlnArgValGluSerLeuArgLysLysArgProLeuPheProTrpPheGlyLeuAspIleGlyGlyThrLeuValLysLeuValTyrPheGluProLysAspIleThrAlaGluGluGluGluGluGluValGluSerLeuLysSerIleArgLysTyrLeuThrSerAsnValAlaTyrGlySerThrGlyIleArgAspValHisLeuGluLeuLysAspLeuThrLeuCysGlyArgLysGlyAsnLeuHisPheIleArgPheProThrHisAspMetProAlaPheIleGlnMetGlyArgAspLysAsnPheSerSerLeuHisThrValPheCysAlaThrGlyGlyGlyAlaTyrLysPheGluGlnAspPheLeuThrIleGlyAspLeuGlnLeuCysLysLeuAspGluLeuAspCysLeuIleLysGlyIleLeuTyrIleAspSerValGlyPheAsnGlyArgSerGlnCysTyrTyrPheGluAsnProAlaAspSerGluLysCysGlnLysLeuProPheAspLeuLysAsnProTyrProLeuLeuLeuValAsnIleGlySerGlyValSerIleLeuAlaValTyrSerLysAspAsnTyrLysArgValThrGlyThrSerLeuGlyGlyGlyThrPhePheGlyLeuCysCysLeuLeuThrGlyCysThrThrPheGluGluAlaLeuGluMetAlaSerArgGlyAspSerThrLysValAspLysLeuValArgAspIleTyrGlyGlyAspTyrGluArgPheGlyLeuProGlyTrpAlaValAlaSerSerPheGlyAsnMetMetSerLysGluLysArgGluAlaValSerLysGluAspLeuAlaArgAlaThrLeuIleThrIleThrAsnAsnIleGlySerIleAlaArgMetCysAlaLeuAsnGluAsnIleAsnGlnValValPheValGlyAsnPheLeuArgIleAsnThrIleAlaMetArgLeuLeuAlaTyrAlaLeuAspTyrTrpSerLysGlyGlnLeuLysAlaLeuPheSerGluHisGluGlyTyrPheGlyAlaValGlyAlaLeuLeuGluLeuLeuLysIleProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS724500", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000610179.7:c.104C>A" }, "RefSeq": { "hgvs": "NM_001386393.1:c.104C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000477429.2:p.Ser35Ter" }, "RefSeq": { "hgvs": "NP_001373322.1:p.Ser35Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2830331577", "coordinates": [ { "allele": "A", "end": 612, "referenceAllele": "C", "start": 611 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "NM_153638.4:c.434C>A" ], "proteinEffect": { "hgvs": "NP_705902.2:p.Ser145Ter", "hgvsWellDefined": "NP_705902.2:p.Ser146_Pro570delinsAlaGlyGluGlnAlaAlaGlyAspProGluGlyArgArgGlnGluProLeuArgArgArgAlaSerSerAlaSerValProAlaValGlyAlaSerAlaGluGlyThrArgArgAspArgLeuGlySerTyrSerGlyProThrSerValSerArgGlnArgValGluSerLeuArgLysLysArgProLeuPheProTrpPheGlyLeuAspIleGlyGlyThrLeuValLysLeuValTyrPheGluProLysAspIleThrAlaGluGluGluGluGluGluValGluSerLeuLysSerIleArgLysTyrLeuThrSerAsnValAlaTyrGlySerThrGlyIleArgAspValHisLeuGluLeuLysAspLeuThrLeuCysGlyArgLysGlyAsnLeuHisPheIleArgPheProThrHisAspMetProAlaPheIleGlnMetGlyArgAspLysAsnPheSerSerLeuHisThrValPheCysAlaThrGlyGlyGlyAlaTyrLysPheGluGlnAspPheLeuThrIleGlyAspLeuGlnLeuCysLysLeuAspGluLeuAspCysLeuIleLysGlyIleLeuTyrIleAspSerValGlyPheAsnGlyArgSerGlnCysTyrTyrPheGluAsnProAlaAspSerGluLysCysGlnLysLeuProPheAspLeuLysAsnProTyrProLeuLeuLeuValAsnIleGlySerGlyValSerIleLeuAlaValTyrSerLysAspAsnTyrLysArgValThrGlyThrSerLeuGlyGlyGlyThrPhePheGlyLeuCysCysLeuLeuThrGlyCysThrThrPheGluGluAlaLeuGluMetAlaSerArgGlyAspSerThrLysValAspLysLeuValArgAspIleTyrGlyGlyAspTyrGluArgPheGlyLeuProGlyTrpAlaValAlaSerSerPheGlyAsnMetMetSerLysGluLysArgGluAlaValSerLysGluAspLeuAlaArgAlaThrLeuIleThrIleThrAsnAsnIleGlySerIleAlaArgMetCysAlaLeuAsnGluAsnIleAsnGlnValValPheValGlyAsnPheLeuArgIleAsnThrIleAlaMetArgLeuLeuAlaTyrAlaLeuAspTyrTrpSerLysGlyGlnLeuLysAlaLeuPheSerGluHisGluGlyTyrPheGlyAlaValGlyAlaLeuLeuGluLeuLeuLysIleProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS729485" } ], "type": "nucleotide" }