{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA311088882", "communityStandardTitle": [ "NM_001386393.1(PANK2):c.115G>T (p.Glu39Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=938974[alleleid]", "alleleId": 938974, "preferredName": "NM_001386393.1(PANK2):c.115G>T (p.Glu39Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/937503", "RCV": [ "RCV001206525" ], "variationId": 937503 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr20:g.3870192G>T?assembly=hg19", "id": "chr20:g.3870192G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr20:g.3889545G>T?assembly=hg38", "id": "chr20:g.3889545G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/528889529", "rs": 528889529 } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/20-3889545-G-T?dataset=gnomad_r3", "id": "20-3889545-G-T", "variant": "20:3889545 G / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/20-3889545-G-T?dataset=gnomad_r4", "id": "20-3889545-G-T", "variant": "20:3889545 G / T" } ] }, "genomicAlleles": [ { "chromosome": "20", "coordinates": [ { "allele": "T", "end": 3889545, "referenceAllele": "G", "start": 3889544 } ], "hgvs": [ "NC_000020.11:g.3889545G>T", "CM000682.2:g.3889545G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000068" }, { "chromosome": "20", "coordinates": [ { "allele": "T", "end": 3870192, "referenceAllele": "G", "start": 3870191 } ], "hgvs": [ "NC_000020.10:g.3870192G>T", "CM000682.1:g.3870192G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000044" }, { "chromosome": "20", "coordinates": [ { "allele": "T", "end": 3818192, "referenceAllele": "G", "start": 3818191 } ], "hgvs": [ "NC_000020.9:g.3818192G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000020" }, { "coordinates": [ { "allele": "T", "end": 5707, "referenceAllele": "G", "start": 5706 } ], "hgvs": [ "NG_008131.3:g.5707G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000877" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 159, "referenceAllele": "G", "start": 158 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "ENST00000610179.7:c.115G>T" ], "proteinEffect": { "hgvs": "ENSP00000477429.2:p.Glu39Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS826386", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000610179.7:c.115G>T" }, "RefSeq": { "hgvs": "NM_001386393.1:c.115G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000477429.2:p.Glu39Ter" }, "RefSeq": { "hgvs": "NP_001373322.1:p.Glu39Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 623, "referenceAllele": "G", "start": 622 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "ENST00000316562.9:c.445G>T" ], "proteinEffect": { "hgvs": "ENSP00000313377.4:p.Glu149Ter", "hgvsWellDefined": "ENSP00000313377.4:p.Glu149_Pro570delinsGlnAlaAlaGlyAspProGluGlyArgArgGlnGluProLeuArgArgArgAlaSerSerAlaSerValProAlaValGlyAlaSerAlaGluGlyThrArgArgAspArgLeuGlySerTyrSerGlyProThrSerValSerArgGlnArgValGluSerLeuArgLysLysArgProLeuPheProTrpPheGlyLeuAspIleGlyGlyThrLeuValLysLeuValTyrPheGluProLysAspIleThrAlaGluGluGluGluGluGluValGluSerLeuLysSerIleArgLysTyrLeuThrSerAsnValAlaTyrGlySerThrGlyIleArgAspValHisLeuGluLeuLysAspLeuThrLeuCysGlyArgLysGlyAsnLeuHisPheIleArgPheProThrHisAspMetProAlaPheIleGlnMetGlyArgAspLysAsnPheSerSerLeuHisThrValPheCysAlaThrGlyGlyGlyAlaTyrLysPheGluGlnAspPheLeuThrIleGlyAspLeuGlnLeuCysLysLeuAspGluLeuAspCysLeuIleLysGlyIleLeuTyrIleAspSerValGlyPheAsnGlyArgSerGlnCysTyrTyrPheGluAsnProAlaAspSerGluLysCysGlnLysLeuProPheAspLeuLysAsnProTyrProLeuLeuLeuValAsnIleGlySerGlyValSerIleLeuAlaValTyrSerLysAspAsnTyrLysArgValThrGlyThrSerLeuGlyGlyGlyThrPhePheGlyLeuCysCysLeuLeuThrGlyCysThrThrPheGluGluAlaLeuGluMetAlaSerArgGlyAspSerThrLysValAspLysLeuValArgAspIleTyrGlyGlyAspTyrGluArgPheGlyLeuProGlyTrpAlaValAlaSerSerPheGlyAsnMetMetSerLysGluLysArgGluAlaValSerLysGluAspLeuAlaArgAlaThrLeuIleThrIleThrAsnAsnIleGlySerIleAlaArgMetCysAlaLeuAsnGluAsnIleAsnGlnValValPheValGlyAsnPheLeuArgIleAsnThrIleAlaMetArgLeuLeuAlaTyrAlaLeuAspTyrTrpSerLysGlyGlnLeuLysAlaLeuPheSerGluHisGluGlyTyrPheGlyAlaValGlyAlaLeuLeuGluLeuLeuLysIleProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS746071" }, { "coordinates": [ { "allele": "T", "end": 157, "referenceAllele": "G", "start": 156 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "ENST00000336066.8:c.115G>T" ], "proteinEffect": { "hgvs": "ENSP00000477229.2:p.Glu39Ter", "hgvsWellDefined": "ENSP00000477229.2:p.Glu39_Arg171delinsGlnAlaAlaGlyAspProGluGlyArgArgGlnGluProLeuArgArgArgAlaSerSerAlaSerValProAlaValGlyAlaSerAlaGluGlyThrArgArgAspArgLeuGlySerTyrSerGlyProThrSerValSerArgGlnArgValGluSerLeuArgLysLysArgProLeuPheProTrpPheGlyLeuAspIleGlyGlyThrLeuValLysLeuValTyrPheGluProLysAspIleThrAlaGluGluGluGluGluGluValGluSerLeuLysSerIleArgLysTyrLeuThrSerAsnValAlaTyrGlySerThrGlyIleArgAspValHisLeuGluLeuLysAspLeuThrLeuCysGlyArgLysAspArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS747545" }, { "coordinates": [ { "allele": "T", "end": 159, "referenceAllele": "G", "start": 158 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "ENST00000610179.6:c.115G>T" ], "proteinEffect": { "hgvs": "ENSP00000477429.2:p.Glu39Ter", "hgvsWellDefined": "ENSP00000477429.2:p.Glu39_Pro460delinsGlnAlaAlaGlyAspProGluGlyArgArgGlnGluProLeuArgArgArgAlaSerSerAlaSerValProAlaValGlyAlaSerAlaGluGlyThrArgArgAspArgLeuGlySerTyrSerGlyProThrSerValSerArgGlnArgValGluSerLeuArgLysLysArgProLeuPheProTrpPheGlyLeuAspIleGlyGlyThrLeuValLysLeuValTyrPheGluProLysAspIleThrAlaGluGluGluGluGluGluValGluSerLeuLysSerIleArgLysTyrLeuThrSerAsnValAlaTyrGlySerThrGlyIleArgAspValHisLeuGluLeuLysAspLeuThrLeuCysGlyArgLysGlyAsnLeuHisPheIleArgPheProThrHisAspMetProAlaPheIleGlnMetGlyArgAspLysAsnPheSerSerLeuHisThrValPheCysAlaThrGlyGlyGlyAlaTyrLysPheGluGlnAspPheLeuThrIleGlyAspLeuGlnLeuCysLysLeuAspGluLeuAspCysLeuIleLysGlyIleLeuTyrIleAspSerValGlyPheAsnGlyArgSerGlnCysTyrTyrPheGluAsnProAlaAspSerGluLysCysGlnLysLeuProPheAspLeuLysAsnProTyrProLeuLeuLeuValAsnIleGlySerGlyValSerIleLeuAlaValTyrSerLysAspAsnTyrLysArgValThrGlyThrSerLeuGlyGlyGlyThrPhePheGlyLeuCysCysLeuLeuThrGlyCysThrThrPheGluGluAlaLeuGluMetAlaSerArgGlyAspSerThrLysValAspLysLeuValArgAspIleTyrGlyGlyAspTyrGluArgPheGlyLeuProGlyTrpAlaValAlaSerSerPheGlyAsnMetMetSerLysGluLysArgGluAlaValSerLysGluAspLeuAlaArgAlaThrLeuIleThrIleThrAsnAsnIleGlySerIleAlaArgMetCysAlaLeuAsnGluAsnIleAsnGlnValValPheValGlyAsnPheLeuArgIleAsnThrIleAlaMetArgLeuLeuAlaTyrAlaLeuAspTyrTrpSerLysGlyGlnLeuLysAlaLeuPheSerGluHisGluGlyTyrPheGlyAlaValGlyAlaLeuLeuGluLeuLeuLysIleProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS761766" }, { "coordinates": [ { "allele": "T", "end": 159, "referenceAllele": "G", "start": 158 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "ENST00000643504.2:c.115G>T" ], "proteinEffect": { "hgvs": "ENSP00000495157.2:p.Glu39Ter", "hgvsWellDefined": "ENSP00000495157.2:p.Glu39_Leu154delinsGlnAlaAlaGlyAspProGluGlyArgArgGlnGluProLeuArgArgArgAlaSerSerAlaSerValProAlaValGlyAlaSerAlaGluGlyThrArgArgAspArgLeuGlySerTyrSerGlyProThrSerValSerArgGlnArgValGluSerLeuArgLysLysArgProGlnMetGlySerLeuMetLeuProArgLeuValLeuAsnSerSerTrpSerGlnAlaIlePheProLeuArgProProLysValLeuGlyTyrArgArgGluProLeuCysProThrTrpGlnSerSerThrLysSerPheGlyAsnSerLeuAlaSerTrpLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767317" }, { "coordinates": [ { "allele": "T", "end": 451, "referenceAllele": "G", "start": 450 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "ENST00000316562.8:c.445G>T" ], "proteinEffect": { "hgvs": "ENSP00000313377.4:p.Glu149Ter", "hgvsWellDefined": "ENSP00000313377.4:p.Glu149_Pro570delinsGlnAlaAlaGlyAspProGluGlyArgArgGlnGluProLeuArgArgArgAlaSerSerAlaSerValProAlaValGlyAlaSerAlaGluGlyThrArgArgAspArgLeuGlySerTyrSerGlyProThrSerValSerArgGlnArgValGluSerLeuArgLysLysArgProLeuPheProTrpPheGlyLeuAspIleGlyGlyThrLeuValLysLeuValTyrPheGluProLysAspIleThrAlaGluGluGluGluGluGluValGluSerLeuLysSerIleArgLysTyrLeuThrSerAsnValAlaTyrGlySerThrGlyIleArgAspValHisLeuGluLeuLysAspLeuThrLeuCysGlyArgLysGlyAsnLeuHisPheIleArgPheProThrHisAspMetProAlaPheIleGlnMetGlyArgAspLysAsnPheSerSerLeuHisThrValPheCysAlaThrGlyGlyGlyAlaTyrLysPheGluGlnAspPheLeuThrIleGlyAspLeuGlnLeuCysLysLeuAspGluLeuAspCysLeuIleLysGlyIleLeuTyrIleAspSerValGlyPheAsnGlyArgSerGlnCysTyrTyrPheGluAsnProAlaAspSerGluLysCysGlnLysLeuProPheAspLeuLysAsnProTyrProLeuLeuLeuValAsnIleGlySerGlyValSerIleLeuAlaValTyrSerLysAspAsnTyrLysArgValThrGlyThrSerLeuGlyGlyGlyThrPhePheGlyLeuCysCysLeuLeuThrGlyCysThrThrPheGluGluAlaLeuGluMetAlaSerArgGlyAspSerThrLysValAspLysLeuValArgAspIleTyrGlyGlyAspTyrGluArgPheGlyLeuProGlyTrpAlaValAlaSerSerPheGlyAsnMetMetSerLysGluLysArgGluAlaValSerLysGluAspLeuAlaArgAlaThrLeuIleThrIleThrAsnAsnIleGlySerIleAlaArgMetCysAlaLeuAsnGluAsnIleAsnGlnValValPheValGlyAsnPheLeuArgIleAsnThrIleAlaMetArgLeuLeuAlaTyrAlaLeuAspTyrTrpSerLysGlyGlnLeuLysAlaLeuPheSerGluHisGluGlyTyrPheGlyAlaValGlyAlaLeuLeuGluLeuLeuLysIleProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS257247" }, { "coordinates": [ { "allele": "T", "end": 157, "referenceAllele": "G", "start": 156 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "ENST00000336066.7:c.76G>T" ], "proteinEffect": { "hgvs": "ENSP00000477229.1:p.Glu26Ter", "hgvsWellDefined": "ENSP00000477229.1:p.Glu26_Arg158delinsGlnAlaAlaGlyAspProGluGlyArgArgGlnGluProLeuArgArgArgAlaSerSerAlaSerValProAlaValGlyAlaSerAlaGluGlyThrArgArgAspArgLeuGlySerTyrSerGlyProThrSerValSerArgGlnArgValGluSerLeuArgLysLysArgProLeuPheProTrpPheGlyLeuAspIleGlyGlyThrLeuValLysLeuValTyrPheGluProLysAspIleThrAlaGluGluGluGluGluGluValGluSerLeuLysSerIleArgLysTyrLeuThrSerAsnValAlaTyrGlySerThrGlyIleArgAspValHisLeuGluLeuLysAspLeuThrLeuCysGlyArgLysAspArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS260236" }, { "coordinates": [ { "allele": "T", "end": 83, "endIntronDirection": "+", "endIntronOffset": 529, "referenceAllele": "G", "start": 83, "startIntronDirection": "+", "startIntronOffset": 528 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "ENST00000495692.5:c.-538+529G>T" ], "proteinEffect": { "hgvs": "ENSP00000476745.1:n.-538+529G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS332340" }, { "coordinates": [ { "allele": "T", "end": 66, "endIntronDirection": "+", "endIntronOffset": 641, "referenceAllele": "G", "start": 66, "startIntronDirection": "+", "startIntronOffset": 640 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "ENST00000497424.5:c.-246+641G>T" ], "proteinEffect": { "hgvs": "ENSP00000417609.1:n.-246+641G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS333665" }, { "coordinates": [ { "allele": "T", "end": 131, "referenceAllele": "G", "start": 130 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "ENST00000610179.5:c.76G>T" ], "proteinEffect": { "hgvs": "ENSP00000477429.1:p.Glu26Ter", "hgvsWellDefined": "ENSP00000477429.1:p.Glu26_Pro447delinsGlnAlaAlaGlyAspProGluGlyArgArgGlnGluProLeuArgArgArgAlaSerSerAlaSerValProAlaValGlyAlaSerAlaGluGlyThrArgArgAspArgLeuGlySerTyrSerGlyProThrSerValSerArgGlnArgValGluSerLeuArgLysLysArgProLeuPheProTrpPheGlyLeuAspIleGlyGlyThrLeuValLysLeuValTyrPheGluProLysAspIleThrAlaGluGluGluGluGluGluValGluSerLeuLysSerIleArgLysTyrLeuThrSerAsnValAlaTyrGlySerThrGlyIleArgAspValHisLeuGluLeuLysAspLeuThrLeuCysGlyArgLysGlyAsnLeuHisPheIleArgPheProThrHisAspMetProAlaPheIleGlnMetGlyArgAspLysAsnPheSerSerLeuHisThrValPheCysAlaThrGlyGlyGlyAlaTyrLysPheGluGlnAspPheLeuThrIleGlyAspLeuGlnLeuCysLysLeuAspGluLeuAspCysLeuIleLysGlyIleLeuTyrIleAspSerValGlyPheAsnGlyArgSerGlnCysTyrTyrPheGluAsnProAlaAspSerGluLysCysGlnLysLeuProPheAspLeuLysAsnProTyrProLeuLeuLeuValAsnIleGlySerGlyValSerIleLeuAlaValTyrSerLysAspAsnTyrLysArgValThrGlyThrSerLeuGlyGlyGlyThrPhePheGlyLeuCysCysLeuLeuThrGlyCysThrThrPheGluGluAlaLeuGluMetAlaSerArgGlyAspSerThrLysValAspLysLeuValArgAspIleTyrGlyGlyAspTyrGluArgPheGlyLeuProGlyTrpAlaValAlaSerSerPheGlyAsnMetMetSerLysGluLysArgGluAlaValSerLysGluAspLeuAlaArgAlaThrLeuIleThrIleThrAsnAsnIleGlySerIleAlaArgMetCysAlaLeuAsnGluAsnIleAsnGlnValValPheValGlyAsnPheLeuArgIleAsnThrIleAlaMetArgLeuLeuAlaTyrAlaLeuAspTyrTrpSerLysGlyGlnLeuLysAlaLeuPheSerGluHisGluGlyTyrPheGlyAlaValGlyAlaLeuLeuGluLeuLeuLysIleProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS400339" }, { "coordinates": [ { "allele": "T", "end": 66, "endIntronDirection": "+", "endIntronOffset": 641, "referenceAllele": "G", "start": 66, "startIntronDirection": "+", "startIntronOffset": 640 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "NM_024960.4:c.-246+641G>T" ], "proteinEffect": { "hgvs": "NP_079236.3:n.-246+641G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS038143" }, { "@id": "http://reg.genome.network/allele/PA1139750307", "coordinates": [ { "allele": "T", "end": 451, "referenceAllele": "G", "start": 450 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "NM_153638.2:c.445G>T" ], "proteinEffect": { "hgvs": "NP_705902.2:p.Glu149Ter", "hgvsWellDefined": "NP_705902.2:p.Glu149_Pro570delinsGlnAlaAlaGlyAspProGluGlyArgArgGlnGluProLeuArgArgArgAlaSerSerAlaSerValProAlaValGlyAlaSerAlaGluGlyThrArgArgAspArgLeuGlySerTyrSerGlyProThrSerValSerArgGlnArgValGluSerLeuArgLysLysArgProLeuPheProTrpPheGlyLeuAspIleGlyGlyThrLeuValLysLeuValTyrPheGluProLysAspIleThrAlaGluGluGluGluGluGluValGluSerLeuLysSerIleArgLysTyrLeuThrSerAsnValAlaTyrGlySerThrGlyIleArgAspValHisLeuGluLeuLysAspLeuThrLeuCysGlyArgLysGlyAsnLeuHisPheIleArgPheProThrHisAspMetProAlaPheIleGlnMetGlyArgAspLysAsnPheSerSerLeuHisThrValPheCysAlaThrGlyGlyGlyAlaTyrLysPheGluGlnAspPheLeuThrIleGlyAspLeuGlnLeuCysLysLeuAspGluLeuAspCysLeuIleLysGlyIleLeuTyrIleAspSerValGlyPheAsnGlyArgSerGlnCysTyrTyrPheGluAsnProAlaAspSerGluLysCysGlnLysLeuProPheAspLeuLysAsnProTyrProLeuLeuLeuValAsnIleGlySerGlyValSerIleLeuAlaValTyrSerLysAspAsnTyrLysArgValThrGlyThrSerLeuGlyGlyGlyThrPhePheGlyLeuCysCysLeuLeuThrGlyCysThrThrPheGluGluAlaLeuGluMetAlaSerArgGlyAspSerThrLysValAspLysLeuValArgAspIleTyrGlyGlyAspTyrGluArgPheGlyLeuProGlyTrpAlaValAlaSerSerPheGlyAsnMetMetSerLysGluLysArgGluAlaValSerLysGluAspLeuAlaArgAlaThrLeuIleThrIleThrAsnAsnIleGlySerIleAlaArgMetCysAlaLeuAsnGluAsnIleAsnGlnValValPheValGlyAsnPheLeuArgIleAsnThrIleAlaMetArgLeuLeuAlaTyrAlaLeuAspTyrTrpSerLysGlyGlnLeuLysAlaLeuPheSerGluHisGluGlyTyrPheGlyAlaValGlyAlaLeuLeuGluLeuLeuLysIleProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS042447" }, { "coordinates": [ { "allele": "T", "end": 72, "endIntronDirection": "+", "endIntronOffset": 529, "referenceAllele": "G", "start": 72, "startIntronDirection": "+", "startIntronOffset": 528 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "XM_005260836.3:c.-246+529G>T" ], "proteinEffect": { "hgvs": "XP_005260893.3:n.-246+529G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS062945" }, { "coordinates": [ { "allele": "T", "end": 506, "referenceAllele": "G", "start": 505 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "XM_011529364.1:c.445G>T" ], "proteinEffect": { "hgvs": "XP_011527666.1:p.Glu149Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS096433" }, { "coordinates": [ { "allele": "T", "end": 523, "referenceAllele": "G", "start": 522 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "XM_011529365.1:c.445G>T" ], "proteinEffect": { "hgvs": "XP_011527667.1:p.Glu149Ter", "hgvsWellDefined": "XP_011527667.1:p.Glu149_His286delinsGlnAlaAlaGlyAspProGluGlyArgArgGlnGluProLeuArgArgArgAlaSerSerAlaSerValProAlaValGlyAlaSerAlaGluGlyThrArgArgAspArgLeuGlySerTyrSerGlyProThrSerValSerArgGlnArgValGluSerLeuArgLysLysArgProLeuPheProTrpPheGlyLeuAspIleGlyGlyThrLeuValLysLeuValTyrPheGluProLysAspIleThrAlaGluGluGluGluGluGluValGluSerLeuLysSerIleArgLysTyrLeuThrSerAsnValAlaTyrGlySerThrGlyIleArgAspValHisLeuGluLeuLysAspLeuThrLeuCysGlyArgLysValValCysTrpHisValHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS096434" }, { "coordinates": [ { "allele": "T", "end": 612, "referenceAllele": "G", "start": 611 } ], "gene": 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"NP_001311121.1:p.Glu149_Phe331delinsGlnAlaAlaGlyAspProGluGlyArgArgGlnGluProLeuArgArgArgAlaSerSerAlaSerValProAlaValGlyAlaSerAlaGluGlyThrArgArgAspArgLeuGlySerTyrSerGlyProThrSerValSerArgGlnArgValGluSerLeuArgLysLysArgProLeuPheProTrpPheGlyLeuAspIleGlyGlyThrLeuValLysLeuValTyrPheGluProLysAspIleThrAlaGluGluGluGluGluGluValGluSerLeuLysSerIleArgLysTyrLeuThrSerAsnValAlaTyrGlySerThrGlyIleArgAspValHisLeuGluLeuLysAspLeuThrLeuCysGlyArgLysGlyAsnLeuHisPheIleArgPheProThrHisAspMetProAlaPheIleGlnMetGlyArgAspLysAsnPheSerSerLeuHisThrValPheCysAlaThrGlyGlyGlyAlaTyrLysPheGluGlnAspPheLeuThrValCysIlePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS515804" }, { "coordinates": [ { "allele": "T", "end": 66, "endIntronDirection": "+", "endIntronOffset": 641, "referenceAllele": "G", "start": 66, "startIntronDirection": "+", "startIntronOffset": 640 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "NM_024960.5:c.-246+641G>T" ], 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"PANK2", "hgvs": [ "XM_011529364.3:c.445G>T" ], "proteinEffect": { "hgvs": "XP_011527666.1:p.Glu149Ter", "hgvsWellDefined": "XP_011527666.1:p.Glu149_Pro511delinsGlnAlaAlaGlyAspProGluGlyArgArgGlnGluProLeuArgArgArgAlaSerSerAlaSerValProAlaValGlyAlaSerAlaGluGlyThrArgArgAspArgLeuGlySerTyrSerGlyProThrSerValSerArgGlnArgValGluSerLeuArgLysLysArgProLeuPheProTrpPheGlyLeuAspIleGlyGlyThrLeuValLysLeuValTyrPheGluProLysAspIleThrAlaGluGluGluGluGluGluValGluSerLeuLysSerIleArgLysTyrLeuThrSerAsnValAlaTyrGlySerThrGlyIleArgAspValHisLeuGluLeuLysAspLeuThrLeuCysGlyArgLysGlyAsnLeuHisPheIleArgPheProThrHisAspMetProAlaPheIleGlnMetGlyArgAspLysAsnPheSerSerLeuHisThrValPheCysAlaThrGlyGlyGlyAlaTyrLysPheGluGlnAspPheLeuThrIleGlyAspLeuGlnLeuCysLysLeuAspGluLeuAspCysLeuIleLysGlyIleLeuTyrIleAspSerValGlyPheAsnGlyArgSerGlnCysTyrTyrPheGluAsnProAlaAspSerGluLysCysGlnLysLeuProPheAspLeuLysAsnProTyrProLeuLeuLeuValAsnIleGlySerGlyValSerIleLeuAlaValTyrSerLysAspAsnTyrLysArgValThrGlyThrSerPheGlyAsnMetMetSerLysGluLysArgGluAlaValSerLysGluAspLeuAlaArgAlaThrLeuIleThrIleThrAsnAsnIleGlySerIleAlaArgMetCysAlaLeuAsnGluAsnIleAsnGlnValValPheValGlyAsnPheLeuArgIleAsnThrIleAlaMetArgLeuLeuAlaTyrAlaLeuAspTyrTrpSerLysGlyGlnLeuLysAlaLeuPheSerGluHisGluGlyTyrPheGlyAlaValGlyAlaLeuLeuGluLeuLeuLysIleProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS549476" }, { "coordinates": [ { "allele": "T", "end": 468, "referenceAllele": "G", "start": 467 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "XM_011529365.2:c.445G>T" ], "proteinEffect": { "hgvs": "XP_011527667.1:p.Glu149Ter", "hgvsWellDefined": "XP_011527667.1:p.Glu149_His286delinsGlnAlaAlaGlyAspProGluGlyArgArgGlnGluProLeuArgArgArgAlaSerSerAlaSerValProAlaValGlyAlaSerAlaGluGlyThrArgArgAspArgLeuGlySerTyrSerGlyProThrSerValSerArgGlnArgValGluSerLeuArgLysLysArgProLeuPheProTrpPheGlyLeuAspIleGlyGlyThrLeuValLysLeuValTyrPheGluProLysAspIleThrAlaGluGluGluGluGluGluValGluSerLeuLysSerIleArgLysTyrLeuThrSerAsnValAlaTyrGlySerThrGlyIleArgAspValHisLeuGluLeuLysAspLeuThrLeuCysGlyArgLysValValCysTrpHisValHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS549477" }, { "coordinates": [ { "allele": "T", "end": 95, "endIntronDirection": "+", "endIntronOffset": 529, "referenceAllele": "G", "start": 95, "startIntronDirection": "+", "startIntronOffset": 528 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "XM_017028079.2:c.-538+529G>T" ], "proteinEffect": { "hgvs": "XP_016883568.1:n.-538+529G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS577907" }, { "coordinates": [ { "allele": "T", "end": 82, "endIntronDirection": "+", "endIntronOffset": 641, "referenceAllele": "G", "start": 82, "startIntronDirection": "+", "startIntronOffset": 640 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "XM_024452002.1:c.-538+641G>T" ], "proteinEffect": { "hgvs": "XP_024307770.1:n.-538+641G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS585509" }, { "coordinates": [ { "allele": "T", "end": 606, "referenceAllele": "G", "start": 605 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "XR_002958533.1:n.606G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS604658" }, { "coordinates": [ { "allele": "T", "end": 159, "referenceAllele": "G", "start": 158 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "NM_001324191.2:c.-597G>T" ], "proteinEffect": { "hgvs": "NP_001311120.1:n.-597G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS686244" }, { "coordinates": [ { "allele": "T", "end": 124, "endIntronDirection": "+", "endIntronOffset": 641, "referenceAllele": "G", "start": 124, "startIntronDirection": "+", "startIntronOffset": 640 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "NM_024960.6:c.-246+641G>T" ], "proteinEffect": { "hgvs": "NP_079236.3:n.-246+641G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS698795" }, { "coordinates": [ { "allele": "T", "end": 159, "referenceAllele": "G", "start": 158 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "NR_136715.2:n.159G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS703943" }, { "@id": "http://reg.genome.network/allele/PA2573079698", "coordinates": [ { "allele": "T", "end": 159, "referenceAllele": "G", "start": 158 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "NM_001386393.1:c.115G>T" ], "proteinEffect": { "hgvs": "NP_001373322.1:p.Glu39Ter", "hgvsWellDefined": "NP_001373322.1:p.Glu39_Pro460delinsGlnAlaAlaGlyAspProGluGlyArgArgGlnGluProLeuArgArgArgAlaSerSerAlaSerValProAlaValGlyAlaSerAlaGluGlyThrArgArgAspArgLeuGlySerTyrSerGlyProThrSerValSerArgGlnArgValGluSerLeuArgLysLysArgProLeuPheProTrpPheGlyLeuAspIleGlyGlyThrLeuValLysLeuValTyrPheGluProLysAspIleThrAlaGluGluGluGluGluGluValGluSerLeuLysSerIleArgLysTyrLeuThrSerAsnValAlaTyrGlySerThrGlyIleArgAspValHisLeuGluLeuLysAspLeuThrLeuCysGlyArgLysGlyAsnLeuHisPheIleArgPheProThrHisAspMetProAlaPheIleGlnMetGlyArgAspLysAsnPheSerSerLeuHisThrValPheCysAlaThrGlyGlyGlyAlaTyrLysPheGluGlnAspPheLeuThrIleGlyAspLeuGlnLeuCysLysLeuAspGluLeuAspCysLeuIleLysGlyIleLeuTyrIleAspSerValGlyPheAsnGlyArgSerGlnCysTyrTyrPheGluAsnProAlaAspSerGluLysCysGlnLysLeuProPheAspLeuLysAsnProTyrProLeuLeuLeuValAsnIleGlySerGlyValSerIleLeuAlaValTyrSerLysAspAsnTyrLysArgValThrGlyThrSerLeuGlyGlyGlyThrPhePheGlyLeuCysCysLeuLeuThrGlyCysThrThrPheGluGluAlaLeuGluMetAlaSerArgGlyAspSerThrLysValAspLysLeuValArgAspIleTyrGlyGlyAspTyrGluArgPheGlyLeuProGlyTrpAlaValAlaSerSerPheGlyAsnMetMetSerLysGluLysArgGluAlaValSerLysGluAspLeuAlaArgAlaThrLeuIleThrIleThrAsnAsnIleGlySerIleAlaArgMetCysAlaLeuAsnGluAsnIleAsnGlnValValPheValGlyAsnPheLeuArgIleAsnThrIleAlaMetArgLeuLeuAlaTyrAlaLeuAspTyrTrpSerLysGlyGlnLeuLysAlaLeuPheSerGluHisGluGlyTyrPheGlyAlaValGlyAlaLeuLeuGluLeuLeuLysIleProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS724500", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000610179.7:c.115G>T" }, "RefSeq": { "hgvs": "NM_001386393.1:c.115G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000477429.2:p.Glu39Ter" }, "RefSeq": { "hgvs": "NP_001373322.1:p.Glu39Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA1139750307", "coordinates": [ { "allele": "T", "end": 623, "referenceAllele": "G", "start": 622 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "NM_153638.4:c.445G>T" ], "proteinEffect": { "hgvs": "NP_705902.2:p.Glu149Ter", "hgvsWellDefined": "NP_705902.2:p.Glu149_Pro570delinsGlnAlaAlaGlyAspProGluGlyArgArgGlnGluProLeuArgArgArgAlaSerSerAlaSerValProAlaValGlyAlaSerAlaGluGlyThrArgArgAspArgLeuGlySerTyrSerGlyProThrSerValSerArgGlnArgValGluSerLeuArgLysLysArgProLeuPheProTrpPheGlyLeuAspIleGlyGlyThrLeuValLysLeuValTyrPheGluProLysAspIleThrAlaGluGluGluGluGluGluValGluSerLeuLysSerIleArgLysTyrLeuThrSerAsnValAlaTyrGlySerThrGlyIleArgAspValHisLeuGluLeuLysAspLeuThrLeuCysGlyArgLysGlyAsnLeuHisPheIleArgPheProThrHisAspMetProAlaPheIleGlnMetGlyArgAspLysAsnPheSerSerLeuHisThrValPheCysAlaThrGlyGlyGlyAlaTyrLysPheGluGlnAspPheLeuThrIleGlyAspLeuGlnLeuCysLysLeuAspGluLeuAspCysLeuIleLysGlyIleLeuTyrIleAspSerValGlyPheAsnGlyArgSerGlnCysTyrTyrPheGluAsnProAlaAspSerGluLysCysGlnLysLeuProPheAspLeuLysAsnProTyrProLeuLeuLeuValAsnIleGlySerGlyValSerIleLeuAlaValTyrSerLysAspAsnTyrLysArgValThrGlyThrSerLeuGlyGlyGlyThrPhePheGlyLeuCysCysLeuLeuThrGlyCysThrThrPheGluGluAlaLeuGluMetAlaSerArgGlyAspSerThrLysValAspLysLeuValArgAspIleTyrGlyGlyAspTyrGluArgPheGlyLeuProGlyTrpAlaValAlaSerSerPheGlyAsnMetMetSerLysGluLysArgGluAlaValSerLysGluAspLeuAlaArgAlaThrLeuIleThrIleThrAsnAsnIleGlySerIleAlaArgMetCysAlaLeuAsnGluAsnIleAsnGlnValValPheValGlyAsnPheLeuArgIleAsnThrIleAlaMetArgLeuLeuAlaTyrAlaLeuAspTyrTrpSerLysGlyGlnLeuLysAlaLeuPheSerGluHisGluGlyTyrPheGlyAlaValGlyAlaLeuLeuGluLeuLeuLysIleProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS729485" } ], "type": "nucleotide" }