{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA253224", "communityStandardTitle": [ "NM_001386393.1(PANK2):c.203C>A (p.Ser68Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=6377991", "active": true, "id": "COSM6377991" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=19600[alleleid]", "alleleId": 19600, "preferredName": "NM_001386393.1(PANK2):c.203C>A (p.Ser68Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4561", "RCV": [ "RCV000004823" ], "variationId": 4561 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr20:g.3870280C>A?assembly=hg19", "id": "chr20:g.3870280C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr20:g.3889633C>A?assembly=hg38", "id": "chr20:g.3889633C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/137852969", "rs": 137852969 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/20-3889633-C-A?dataset=gnomad_r4", "id": "20-3889633-C-A", "variant": "20:3889633 C / A" } ] }, "genomicAlleles": [ { "chromosome": "20", "coordinates": [ { "allele": "A", "end": 3889633, "referenceAllele": "C", "start": 3889632 } ], "hgvs": [ "NC_000020.11:g.3889633C>A", "CM000682.2:g.3889633C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000068" }, { "chromosome": "20", "coordinates": [ { "allele": "A", "end": 3870280, "referenceAllele": "C", "start": 3870279 } ], "hgvs": [ "NC_000020.10:g.3870280C>A", "CM000682.1:g.3870280C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000044" }, { "chromosome": "20", "coordinates": [ { "allele": "A", "end": 3818280, "referenceAllele": "C", "start": 3818279 } ], "hgvs": [ "NC_000020.9:g.3818280C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000020" }, { "coordinates": [ { "allele": "A", "end": 5795, "referenceAllele": "C", "start": 5794 } ], "hgvs": [ "NG_008131.3:g.5795C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000877" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 247, "referenceAllele": "C", "start": 246 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "ENST00000610179.7:c.203C>A" ], "proteinEffect": { "hgvs": "ENSP00000477429.2:p.Ser68Ter", "hgvsWellDefined": "ENSP00000477429.2:p.Ser68_Pro460delinsAlaGluGlyThrArgArgAspArgLeuGlySerTyrSerGlyProThrSerValSerArgGlnArgValGluSerLeuArgLysLysArgProLeuPheProTrpPheGlyLeuAspIleGlyGlyThrLeuValLysLeuValTyrPheGluProLysAspIleThrAlaGluGluGluGluGluGluValGluSerLeuLysSerIleArgLysTyrLeuThrSerAsnValAlaTyrGlySerThrGlyIleArgAspValHisLeuGluLeuLysAspLeuThrLeuCysGlyArgLysGlyAsnLeuHisPheIleArgPheProThrHisAspMetProAlaPheIleGlnMetGlyArgAspLysAsnPheSerSerLeuHisThrValPheCysAlaThrGlyGlyGlyAlaTyrLysPheGluGlnAspPheLeuThrIleGlyAspLeuGlnLeuCysLysLeuAspGluLeuAspCysLeuIleLysGlyIleLeuTyrIleAspSerValGlyPheAsnGlyArgSerGlnCysTyrTyrPheGluAsnProAlaAspSerGluLysCysGlnLysLeuProPheAspLeuLysAsnProTyrProLeuLeuLeuValAsnIleGlySerGlyValSerIleLeuAlaValTyrSerLysAspAsnTyrLysArgValThrGlyThrSerLeuGlyGlyGlyThrPhePheGlyLeuCysCysLeuLeuThrGlyCysThrThrPheGluGluAlaLeuGluMetAlaSerArgGlyAspSerThrLysValAspLysLeuValArgAspIleTyrGlyGlyAspTyrGluArgPheGlyLeuProGlyTrpAlaValAlaSerSerPheGlyAsnMetMetSerLysGluLysArgGluAlaValSerLysGluAspLeuAlaArgAlaThrLeuIleThrIleThrAsnAsnIleGlySerIleAlaArgMetCysAlaLeuAsnGluAsnIleAsnGlnValValPheValGlyAsnPheLeuArgIleAsnThrIleAlaMetArgLeuLeuAlaTyrAlaLeuAspTyrTrpSerLysGlyGlnLeuLysAlaLeuPheSerGluHisGluGlyTyrPheGlyAlaValGlyAlaLeuLeuGluLeuLeuLysIleProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS826386", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000610179.7:c.203C>A" }, "RefSeq": { "hgvs": "NM_001386393.1:c.203C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000477429.2:p.Ser68Ter" }, "RefSeq": { "hgvs": "NP_001373322.1:p.Ser68Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 711, "referenceAllele": "C", "start": 710 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "ENST00000316562.9:c.533C>A" ], "proteinEffect": { "hgvs": "ENSP00000313377.4:p.Ser178Ter", "hgvsWellDefined": "ENSP00000313377.4:p.Ser178_Pro570delinsAlaGluGlyThrArgArgAspArgLeuGlySerTyrSerGlyProThrSerValSerArgGlnArgValGluSerLeuArgLysLysArgProLeuPheProTrpPheGlyLeuAspIleGlyGlyThrLeuValLysLeuValTyrPheGluProLysAspIleThrAlaGluGluGluGluGluGluValGluSerLeuLysSerIleArgLysTyrLeuThrSerAsnValAlaTyrGlySerThrGlyIleArgAspValHisLeuGluLeuLysAspLeuThrLeuCysGlyArgLysGlyAsnLeuHisPheIleArgPheProThrHisAspMetProAlaPheIleGlnMetGlyArgAspLysAsnPheSerSerLeuHisThrValPheCysAlaThrGlyGlyGlyAlaTyrLysPheGluGlnAspPheLeuThrIleGlyAspLeuGlnLeuCysLysLeuAspGluLeuAspCysLeuIleLysGlyIleLeuTyrIleAspSerValGlyPheAsnGlyArgSerGlnCysTyrTyrPheGluAsnProAlaAspSerGluLysCysGlnLysLeuProPheAspLeuLysAsnProTyrProLeuLeuLeuValAsnIleGlySerGlyValSerIleLeuAlaValTyrSerLysAspAsnTyrLysArgValThrGlyThrSerLeuGlyGlyGlyThrPhePheGlyLeuCysCysLeuLeuThrGlyCysThrThrPheGluGluAlaLeuGluMetAlaSerArgGlyAspSerThrLysValAspLysLeuValArgAspIleTyrGlyGlyAspTyrGluArgPheGlyLeuProGlyTrpAlaValAlaSerSerPheGlyAsnMetMetSerLysGluLysArgGluAlaValSerLysGluAspLeuAlaArgAlaThrLeuIleThrIleThrAsnAsnIleGlySerIleAlaArgMetCysAlaLeuAsnGluAsnIleAsnGlnValValPheValGlyAsnPheLeuArgIleAsnThrIleAlaMetArgLeuLeuAlaTyrAlaLeuAspTyrTrpSerLysGlyGlnLeuLysAlaLeuPheSerGluHisGluGlyTyrPheGlyAlaValGlyAlaLeuLeuGluLeuLeuLysIleProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS746071" }, { "coordinates": [ { "allele": "A", "end": 245, "referenceAllele": "C", "start": 244 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "ENST00000336066.8:c.203C>A" ], "proteinEffect": { "hgvs": "ENSP00000477229.2:p.Ser68Ter", "hgvsWellDefined": "ENSP00000477229.2:p.Ser68_Arg171delinsAlaGluGlyThrArgArgAspArgLeuGlySerTyrSerGlyProThrSerValSerArgGlnArgValGluSerLeuArgLysLysArgProLeuPheProTrpPheGlyLeuAspIleGlyGlyThrLeuValLysLeuValTyrPheGluProLysAspIleThrAlaGluGluGluGluGluGluValGluSerLeuLysSerIleArgLysTyrLeuThrSerAsnValAlaTyrGlySerThrGlyIleArgAspValHisLeuGluLeuLysAspLeuThrLeuCysGlyArgLysAspArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS747545" }, { "coordinates": [ { "allele": "A", "end": 247, "referenceAllele": "C", "start": 246 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "ENST00000610179.6:c.203C>A" ], "proteinEffect": { "hgvs": "ENSP00000477429.2:p.Ser68Ter", "hgvsWellDefined": "ENSP00000477429.2:p.Ser68_Pro460delinsAlaGluGlyThrArgArgAspArgLeuGlySerTyrSerGlyProThrSerValSerArgGlnArgValGluSerLeuArgLysLysArgProLeuPheProTrpPheGlyLeuAspIleGlyGlyThrLeuValLysLeuValTyrPheGluProLysAspIleThrAlaGluGluGluGluGluGluValGluSerLeuLysSerIleArgLysTyrLeuThrSerAsnValAlaTyrGlySerThrGlyIleArgAspValHisLeuGluLeuLysAspLeuThrLeuCysGlyArgLysGlyAsnLeuHisPheIleArgPheProThrHisAspMetProAlaPheIleGlnMetGlyArgAspLysAsnPheSerSerLeuHisThrValPheCysAlaThrGlyGlyGlyAlaTyrLysPheGluGlnAspPheLeuThrIleGlyAspLeuGlnLeuCysLysLeuAspGluLeuAspCysLeuIleLysGlyIleLeuTyrIleAspSerValGlyPheAsnGlyArgSerGlnCysTyrTyrPheGluAsnProAlaAspSerGluLysCysGlnLysLeuProPheAspLeuLysAsnProTyrProLeuLeuLeuValAsnIleGlySerGlyValSerIleLeuAlaValTyrSerLysAspAsnTyrLysArgValThrGlyThrSerLeuGlyGlyGlyThrPhePheGlyLeuCysCysLeuLeuThrGlyCysThrThrPheGluGluAlaLeuGluMetAlaSerArgGlyAspSerThrLysValAspLysLeuValArgAspIleTyrGlyGlyAspTyrGluArgPheGlyLeuProGlyTrpAlaValAlaSerSerPheGlyAsnMetMetSerLysGluLysArgGluAlaValSerLysGluAspLeuAlaArgAlaThrLeuIleThrIleThrAsnAsnIleGlySerIleAlaArgMetCysAlaLeuAsnGluAsnIleAsnGlnValValPheValGlyAsnPheLeuArgIleAsnThrIleAlaMetArgLeuLeuAlaTyrAlaLeuAspTyrTrpSerLysGlyGlnLeuLysAlaLeuPheSerGluHisGluGlyTyrPheGlyAlaValGlyAlaLeuLeuGluLeuLeuLysIleProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS761766" }, { "coordinates": [ { "allele": "A", "end": 247, "referenceAllele": "C", "start": 246 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "ENST00000643504.2:c.203C>A" ], "proteinEffect": { "hgvs": "ENSP00000495157.2:p.Ser68Ter", "hgvsWellDefined": "ENSP00000495157.2:p.Ser68_Leu154delinsAlaGluGlyThrArgArgAspArgLeuGlySerTyrSerGlyProThrSerValSerArgGlnArgValGluSerLeuArgLysLysArgProGlnMetGlySerLeuMetLeuProArgLeuValLeuAsnSerSerTrpSerGlnAlaIlePheProLeuArgProProLysValLeuGlyTyrArgArgGluProLeuCysProThrTrpGlnSerSerThrLysSerPheGlyAsnSerLeuAlaSerTrpLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767317" }, { "coordinates": [ { "allele": "A", "end": 539, "referenceAllele": "C", "start": 538 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "ENST00000316562.8:c.533C>A" ], "proteinEffect": { "hgvs": "ENSP00000313377.4:p.Ser178Ter", "hgvsWellDefined": "ENSP00000313377.4:p.Ser178_Pro570delinsAlaGluGlyThrArgArgAspArgLeuGlySerTyrSerGlyProThrSerValSerArgGlnArgValGluSerLeuArgLysLysArgProLeuPheProTrpPheGlyLeuAspIleGlyGlyThrLeuValLysLeuValTyrPheGluProLysAspIleThrAlaGluGluGluGluGluGluValGluSerLeuLysSerIleArgLysTyrLeuThrSerAsnValAlaTyrGlySerThrGlyIleArgAspValHisLeuGluLeuLysAspLeuThrLeuCysGlyArgLysGlyAsnLeuHisPheIleArgPheProThrHisAspMetProAlaPheIleGlnMetGlyArgAspLysAsnPheSerSerLeuHisThrValPheCysAlaThrGlyGlyGlyAlaTyrLysPheGluGlnAspPheLeuThrIleGlyAspLeuGlnLeuCysLysLeuAspGluLeuAspCysLeuIleLysGlyIleLeuTyrIleAspSerValGlyPheAsnGlyArgSerGlnCysTyrTyrPheGluAsnProAlaAspSerGluLysCysGlnLysLeuProPheAspLeuLysAsnProTyrProLeuLeuLeuValAsnIleGlySerGlyValSerIleLeuAlaValTyrSerLysAspAsnTyrLysArgValThrGlyThrSerLeuGlyGlyGlyThrPhePheGlyLeuCysCysLeuLeuThrGlyCysThrThrPheGluGluAlaLeuGluMetAlaSerArgGlyAspSerThrLysValAspLysLeuValArgAspIleTyrGlyGlyAspTyrGluArgPheGlyLeuProGlyTrpAlaValAlaSerSerPheGlyAsnMetMetSerLysGluLysArgGluAlaValSerLysGluAspLeuAlaArgAlaThrLeuIleThrIleThrAsnAsnIleGlySerIleAlaArgMetCysAlaLeuAsnGluAsnIleAsnGlnValValPheValGlyAsnPheLeuArgIleAsnThrIleAlaMetArgLeuLeuAlaTyrAlaLeuAspTyrTrpSerLysGlyGlnLeuLysAlaLeuPheSerGluHisGluGlyTyrPheGlyAlaValGlyAlaLeuLeuGluLeuLeuLysIleProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS257247" }, { "coordinates": [ { "allele": "A", "end": 245, "referenceAllele": "C", "start": 244 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "ENST00000336066.7:c.164C>A" ], "proteinEffect": { "hgvs": "ENSP00000477229.1:p.Ser55Ter", "hgvsWellDefined": "ENSP00000477229.1:p.Ser55_Arg158delinsAlaGluGlyThrArgArgAspArgLeuGlySerTyrSerGlyProThrSerValSerArgGlnArgValGluSerLeuArgLysLysArgProLeuPheProTrpPheGlyLeuAspIleGlyGlyThrLeuValLysLeuValTyrPheGluProLysAspIleThrAlaGluGluGluGluGluGluValGluSerLeuLysSerIleArgLysTyrLeuThrSerAsnValAlaTyrGlySerThrGlyIleArgAspValHisLeuGluLeuLysAspLeuThrLeuCysGlyArgLysAspArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS260236" }, { "coordinates": [ { "allele": "A", "end": 83, "endIntronDirection": "+", "endIntronOffset": 617, "referenceAllele": "C", "start": 83, "startIntronDirection": "+", "startIntronOffset": 616 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "ENST00000495692.5:c.-538+617C>A" ], "proteinEffect": { "hgvs": "ENSP00000476745.1:n.-538+617C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS332340" }, { "coordinates": [ { "allele": "A", "end": 66, "endIntronDirection": "+", "endIntronOffset": 729, "referenceAllele": "C", "start": 66, "startIntronDirection": "+", "startIntronOffset": 728 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "ENST00000497424.5:c.-246+729C>A" ], "proteinEffect": { "hgvs": "ENSP00000417609.1:n.-246+729C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS333665" }, { "coordinates": [ { "allele": "A", "end": 219, "referenceAllele": "C", "start": 218 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "ENST00000610179.5:c.164C>A" ], "proteinEffect": { "hgvs": "ENSP00000477429.1:p.Ser55Ter", "hgvsWellDefined": "ENSP00000477429.1:p.Ser55_Pro447delinsAlaGluGlyThrArgArgAspArgLeuGlySerTyrSerGlyProThrSerValSerArgGlnArgValGluSerLeuArgLysLysArgProLeuPheProTrpPheGlyLeuAspIleGlyGlyThrLeuValLysLeuValTyrPheGluProLysAspIleThrAlaGluGluGluGluGluGluValGluSerLeuLysSerIleArgLysTyrLeuThrSerAsnValAlaTyrGlySerThrGlyIleArgAspValHisLeuGluLeuLysAspLeuThrLeuCysGlyArgLysGlyAsnLeuHisPheIleArgPheProThrHisAspMetProAlaPheIleGlnMetGlyArgAspLysAsnPheSerSerLeuHisThrValPheCysAlaThrGlyGlyGlyAlaTyrLysPheGluGlnAspPheLeuThrIleGlyAspLeuGlnLeuCysLysLeuAspGluLeuAspCysLeuIleLysGlyIleLeuTyrIleAspSerValGlyPheAsnGlyArgSerGlnCysTyrTyrPheGluAsnProAlaAspSerGluLysCysGlnLysLeuProPheAspLeuLysAsnProTyrProLeuLeuLeuValAsnIleGlySerGlyValSerIleLeuAlaValTyrSerLysAspAsnTyrLysArgValThrGlyThrSerLeuGlyGlyGlyThrPhePheGlyLeuCysCysLeuLeuThrGlyCysThrThrPheGluGluAlaLeuGluMetAlaSerArgGlyAspSerThrLysValAspLysLeuValArgAspIleTyrGlyGlyAspTyrGluArgPheGlyLeuProGlyTrpAlaValAlaSerSerPheGlyAsnMetMetSerLysGluLysArgGluAlaValSerLysGluAspLeuAlaArgAlaThrLeuIleThrIleThrAsnAsnIleGlySerIleAlaArgMetCysAlaLeuAsnGluAsnIleAsnGlnValValPheValGlyAsnPheLeuArgIleAsnThrIleAlaMetArgLeuLeuAlaTyrAlaLeuAspTyrTrpSerLysGlyGlnLeuLysAlaLeuPheSerGluHisGluGlyTyrPheGlyAlaValGlyAlaLeuLeuGluLeuLeuLysIleProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS400339" }, { "coordinates": [ { "allele": "A", "end": 66, "endIntronDirection": "+", "endIntronOffset": 729, "referenceAllele": "C", "start": 66, "startIntronDirection": "+", "startIntronOffset": 728 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "NM_024960.4:c.-246+729C>A" ], "proteinEffect": { "hgvs": "NP_079236.3:n.-246+729C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS038143" }, { "@id": "http://reg.genome.network/allele/PA253225", "coordinates": [ { "allele": "A", "end": 539, "referenceAllele": "C", "start": 538 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "NM_153638.2:c.533C>A" ], "proteinEffect": { "hgvs": "NP_705902.2:p.Ser178Ter", "hgvsWellDefined": "NP_705902.2:p.Ser178_Pro570delinsAlaGluGlyThrArgArgAspArgLeuGlySerTyrSerGlyProThrSerValSerArgGlnArgValGluSerLeuArgLysLysArgProLeuPheProTrpPheGlyLeuAspIleGlyGlyThrLeuValLysLeuValTyrPheGluProLysAspIleThrAlaGluGluGluGluGluGluValGluSerLeuLysSerIleArgLysTyrLeuThrSerAsnValAlaTyrGlySerThrGlyIleArgAspValHisLeuGluLeuLysAspLeuThrLeuCysGlyArgLysGlyAsnLeuHisPheIleArgPheProThrHisAspMetProAlaPheIleGlnMetGlyArgAspLysAsnPheSerSerLeuHisThrValPheCysAlaThrGlyGlyGlyAlaTyrLysPheGluGlnAspPheLeuThrIleGlyAspLeuGlnLeuCysLysLeuAspGluLeuAspCysLeuIleLysGlyIleLeuTyrIleAspSerValGlyPheAsnGlyArgSerGlnCysTyrTyrPheGluAsnProAlaAspSerGluLysCysGlnLysLeuProPheAspLeuLysAsnProTyrProLeuLeuLeuValAsnIleGlySerGlyValSerIleLeuAlaValTyrSerLysAspAsnTyrLysArgValThrGlyThrSerLeuGlyGlyGlyThrPhePheGlyLeuCysCysLeuLeuThrGlyCysThrThrPheGluGluAlaLeuGluMetAlaSerArgGlyAspSerThrLysValAspLysLeuValArgAspIleTyrGlyGlyAspTyrGluArgPheGlyLeuProGlyTrpAlaValAlaSerSerPheGlyAsnMetMetSerLysGluLysArgGluAlaValSerLysGluAspLeuAlaArgAlaThrLeuIleThrIleThrAsnAsnIleGlySerIleAlaArgMetCysAlaLeuAsnGluAsnIleAsnGlnValValPheValGlyAsnPheLeuArgIleAsnThrIleAlaMetArgLeuLeuAlaTyrAlaLeuAspTyrTrpSerLysGlyGlnLeuLysAlaLeuPheSerGluHisGluGlyTyrPheGlyAlaValGlyAlaLeuLeuGluLeuLeuLysIleProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS042447" }, { "coordinates": [ { "allele": "A", "end": 72, "endIntronDirection": "+", "endIntronOffset": 617, "referenceAllele": "C", "start": 72, "startIntronDirection": "+", "startIntronOffset": 616 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "XM_005260836.3:c.-246+617C>A" ], "proteinEffect": { "hgvs": "XP_005260893.3:n.-246+617C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS062945" }, { "coordinates": [ { "allele": "A", "end": 594, "referenceAllele": "C", "start": 593 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "XM_011529364.1:c.533C>A" ], "proteinEffect": { "hgvs": "XP_011527666.1:p.Ser178Ter", "hgvsWellDefined": "XP_011527666.1:p.Ser178_Pro511delinsAlaGluGlyThrArgArgAspArgLeuGlySerTyrSerGlyProThrSerValSerArgGlnArgValGluSerLeuArgLysLysArgProLeuPheProTrpPheGlyLeuAspIleGlyGlyThrLeuValLysLeuValTyrPheGluProLysAspIleThrAlaGluGluGluGluGluGluValGluSerLeuLysSerIleArgLysTyrLeuThrSerAsnValAlaTyrGlySerThrGlyIleArgAspValHisLeuGluLeuLysAspLeuThrLeuCysGlyArgLysGlyAsnLeuHisPheIleArgPheProThrHisAspMetProAlaPheIleGlnMetGlyArgAspLysAsnPheSerSerLeuHisThrValPheCysAlaThrGlyGlyGlyAlaTyrLysPheGluGlnAspPheLeuThrIleGlyAspLeuGlnLeuCysLysLeuAspGluLeuAspCysLeuIleLysGlyIleLeuTyrIleAspSerValGlyPheAsnGlyArgSerGlnCysTyrTyrPheGluAsnProAlaAspSerGluLysCysGlnLysLeuProPheAspLeuLysAsnProTyrProLeuLeuLeuValAsnIleGlySerGlyValSerIleLeuAlaValTyrSerLysAspAsnTyrLysArgValThrGlyThrSerPheGlyAsnMetMetSerLysGluLysArgGluAlaValSerLysGluAspLeuAlaArgAlaThrLeuIleThrIleThrAsnAsnIleGlySerIleAlaArgMetCysAlaLeuAsnGluAsnIleAsnGlnValValPheValGlyAsnPheLeuArgIleAsnThrIleAlaMetArgLeuLeuAlaTyrAlaLeuAspTyrTrpSerLysGlyGlnLeuLysAlaLeuPheSerGluHisGluGlyTyrPheGlyAlaValGlyAlaLeuLeuGluLeuLeuLysIleProTer" 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}, "referenceSequence": "http://reg.genome.network/refseq/RS724500", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000610179.7:c.203C>A" }, "RefSeq": { "hgvs": "NM_001386393.1:c.203C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000477429.2:p.Ser68Ter" }, "RefSeq": { "hgvs": "NP_001373322.1:p.Ser68Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA253225", "coordinates": [ { "allele": "A", "end": 711, "referenceAllele": "C", "start": 710 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "NM_153638.4:c.533C>A" ], "proteinEffect": { "hgvs": "NP_705902.2:p.Ser178Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS729485" } ], "type": "nucleotide" }