{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA7287878", "communityStandardTitle": [ "NM_001193315.2(VIPAS39):c.958C>T (p.Arg320Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=493028[alleleid]", "alleleId": 493028, "preferredName": "NM_001193315.2(VIPAS39):c.958C>T (p.Arg320Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/501604", "RCV": [ "RCV000592946" ], "variationId": 501604 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/14-77901691-G-A", "id": "14-77901691-G-A", "variant": "14:77901691 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr14:g.77901691G>A?assembly=hg19", "id": "chr14:g.77901691G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr14:g.77435348G>A?assembly=hg38", "id": "chr14:g.77435348G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/747749610", "rs": 747749610 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/14-77901691-G-A?dataset=gnomad_r2_1", "id": "14-77901691-G-A", "variant": "14:77901691 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/14-77435348-G-A?dataset=gnomad_r4", "id": "14-77435348-G-A", "variant": "14:77435348 G / A" } ] }, "genomicAlleles": [ { "chromosome": "14", "coordinates": [ { "allele": "A", "end": 77435348, "referenceAllele": "G", "start": 77435347 } ], "hgvs": [ "NC_000014.9:g.77435348G>A", "CM000676.2:g.77435348G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000062" }, { "chromosome": "14", "coordinates": [ { "allele": "A", "end": 77901691, "referenceAllele": "G", "start": 77901690 } ], "hgvs": [ "NC_000014.8:g.77901691G>A", "CM000676.1:g.77901691G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000038" }, { "chromosome": "14", "coordinates": [ { "allele": "A", "end": 76971444, "referenceAllele": "G", "start": 76971443 } ], "hgvs": [ "NC_000014.7:g.76971444G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000014" }, { "coordinates": [ { "allele": "T", "end": 27293, "referenceAllele": "C", "start": 27292 } ], "hgvs": [ "NG_023421.1:g.27293C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS003854" }, { "coordinates": [ { "allele": "T", "end": 27293, "referenceAllele": "C", "start": 27292 } ], "hgvs": [ "NG_023421.2:g.27293C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS733349" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1065, "referenceAllele": "C", "start": 1064 } ], "gene": "http://reg.genome.network/gene/GN020347", "geneNCBI_id": 63894, "geneSymbol": "VIPAS39", "hgvs": [ "ENST00000557658.6:c.958C>T" ], "proteinEffect": { "hgvs": "ENSP00000452191.1:p.Arg320Ter", "hgvsWellDefined": "ENSP00000452191.1:p.Arg320_Asn493delinsLysHisProArgLysAlaSerIleLeuAsnMetProLeuValThrThrLeuPheTyrSerCysPheTyrHisTyrThrGluAlaGluGlyThrPheSerSerProValAsnLeuLysLysThrPheLysIleProAspLysGlnTyrValLeuThrAlaLeuAlaAlaArgAlaLysLeuArgAlaTrpAsnAspValAspAlaLeuPheThrThrLysAsnTrpLeuGlyTyrThrLysLysArgAlaProIleGlyPheHisArgValValGluIleLeuHisLysAsnAsnAlaProValGlnIleLeuGlnGluTyrValAsnLeuValGluAspValAspThrLysLeuAsnLeuAlaThrLysPheLysCysHisAspValValIleAspThrTyrArgAspLeuLysAspArgGlnGlnLeuLeuAlaTyrArgSerLysValAspLysGlySerAlaGluGluGluLysIleAspAlaLeuLeuSerSerSerGlnIleArgTrpLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS760216", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000557658.6:c.958C>T" }, "RefSeq": { "hgvs": "NM_001193315.2:c.958C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000452191.1:p.Arg320Ter" }, "RefSeq": { "hgvs": "NP_001180244.1:p.Arg320Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1149, "referenceAllele": "C", "start": 1148 } ], "gene": "http://reg.genome.network/gene/GN020347", "geneNCBI_id": 63894, "geneSymbol": "VIPAS39", "hgvs": [ "ENST00000327028.8:c.811C>T" ], "proteinEffect": { "hgvs": "ENSP00000313098.5:p.Arg271Ter", "hgvsWellDefined": "ENSP00000313098.5:p.Arg271_Asn444delinsLysHisProArgLysAlaSerIleLeuAsnMetProLeuValThrThrLeuPheTyrSerCysPheTyrHisTyrThrGluAlaGluGlyThrPheSerSerProValAsnLeuLysLysThrPheLysIleProAspLysGlnTyrValLeuThrAlaLeuAlaAlaArgAlaLysLeuArgAlaTrpAsnAspValAspAlaLeuPheThrThrLysAsnTrpLeuGlyTyrThrLysLysArgAlaProIleGlyPheHisArgValValGluIleLeuHisLysAsnAsnAlaProValGlnIleLeuGlnGluTyrValAsnLeuValGluAspValAspThrLysLeuAsnLeuAlaThrLysPheLysCysHisAspValValIleAspThrTyrArgAspLeuLysAspArgGlnGlnLeuLeuAlaTyrArgSerLysValAspLysGlySerAlaGluGluGluLysIleAspAlaLeuLeuSerSerSerGlnIleArgTrpLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS258703" }, { "coordinates": [ { "allele": "T", "end": 1296, "referenceAllele": "C", "start": 1295 } ], "gene": "http://reg.genome.network/gene/GN020347", "geneNCBI_id": 63894, "geneSymbol": "VIPAS39", "hgvs": [ "ENST00000343765.6:c.958C>T" ], "proteinEffect": { "hgvs": "ENSP00000339122.2:p.Arg320Ter", "hgvsWellDefined": "ENSP00000339122.2:p.Arg320_Asn493delinsLysHisProArgLysAlaSerIleLeuAsnMetProLeuValThrThrLeuPheTyrSerCysPheTyrHisTyrThrGluAlaGluGlyThrPheSerSerProValAsnLeuLysLysThrPheLysIleProAspLysGlnTyrValLeuThrAlaLeuAlaAlaArgAlaLysLeuArgAlaTrpAsnAspValAspAlaLeuPheThrThrLysAsnTrpLeuGlyTyrThrLysLysArgAlaProIleGlyPheHisArgValValGluIleLeuHisLysAsnAsnAlaProValGlnIleLeuGlnGluTyrValAsnLeuValGluAspValAspThrLysLeuAsnLeuAlaThrLysPheLysCysHisAspValValIleAspThrTyrArgAspLeuLysAspArgGlnGlnLeuLeuAlaTyrArgSerLysValAspLysGlySerAlaGluGluGluLysIleAspAlaLeuLeuSerSerSerGlnIleArgTrpLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS261828" }, { "coordinates": [ { "allele": "T", "end": 903, "referenceAllele": "C", "start": 902 } ], "gene": "http://reg.genome.network/gene/GN020347", "geneNCBI_id": 63894, "geneSymbol": "VIPAS39", "hgvs": [ "ENST00000448935.6:c.811C>T" ], "proteinEffect": { "hgvs": "ENSP00000404815.2:p.Arg271Ter", "hgvsWellDefined": "ENSP00000404815.2:p.Arg271_Asn444delinsLysHisProArgLysAlaSerIleLeuAsnMetProLeuValThrThrLeuPheTyrSerCysPheTyrHisTyrThrGluAlaGluGlyThrPheSerSerProValAsnLeuLysLysThrPheLysIleProAspLysGlnTyrValLeuThrAlaLeuAlaAlaArgAlaLysLeuArgAlaTrpAsnAspValAspAlaLeuPheThrThrLysAsnTrpLeuGlyTyrThrLysLysArgAlaProIleGlyPheHisArgValValGluIleLeuHisLysAsnAsnAlaProValGlnIleLeuGlnGluTyrValAsnLeuValGluAspValAspThrLysLeuAsnLeuAlaThrLysPheLysCysHisAspValValIleAspThrTyrArgAspLeuLysAspArgGlnGlnLeuLeuAlaTyrArgSerLysValAspLysGlySerAlaGluGluGluLysIleAspAlaLeuLeuSerSerSerGlnIleArgTrpLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS299963" }, { "coordinates": [ { "allele": "T", "end": 370, "referenceAllele": "C", "start": 369 } ], "gene": "http://reg.genome.network/gene/GN020347", "geneNCBI_id": 63894, "geneSymbol": "VIPAS39", "hgvs": [ "ENST00000553576.5:n.370C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS369967" }, { "coordinates": [ { "allele": "T", "end": 1469, "referenceAllele": "C", "start": 1468 } ], "gene": "http://reg.genome.network/gene/GN020347", "geneNCBI_id": 63894, "geneSymbol": "VIPAS39", "hgvs": [ "ENST00000553888.5:c.958C>T" ], "proteinEffect": { "hgvs": "ENSP00000452181.1:p.Arg320Ter", "hgvsWellDefined": "ENSP00000452181.1:p.Arg320_Asn493delinsLysHisProArgLysAlaSerIleLeuAsnMetProLeuValThrThrLeuPheTyrSerCysPheTyrHisTyrThrGluAlaGluGlyThrPheSerSerProValAsnLeuLysLysThrPheLysIleProAspLysGlnTyrValLeuThrAlaLeuAlaAlaArgAlaLysLeuArgAlaTrpAsnAspValAspAlaLeuPheThrThrLysAsnTrpLeuGlyTyrThrLysLysArgAlaProIleGlyPheHisArgValValGluIleLeuHisLysAsnAsnAlaProValGlnIleLeuGlnGluTyrValAsnLeuValGluAspValAspThrLysLeuAsnLeuAlaThrLysPheLysCysHisAspValValIleAspThrTyrArgAspLeuLysAspArgGlnGlnLeuLeuAlaTyrArgSerLysValAspLysGlySerAlaGluGluGluLysIleAspAlaLeuLeuSerSerSerGlnIleArgTrpLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS370210" }, { "coordinates": [ { "allele": "T", "end": 1206, "referenceAllele": "C", "start": 1205 } ], "gene": "http://reg.genome.network/gene/GN020347", "geneNCBI_id": 63894, "geneSymbol": "VIPAS39", "hgvs": [ "ENST00000556412.4:c.1036C>T" ], "proteinEffect": { "hgvs": "ENSP00000451857.1:p.Arg346Ter", "hgvsWellDefined": "ENSP00000451857.1:p.Arg346_Asn519delinsLysHisProArgLysAlaSerIleLeuAsnMetProLeuValThrThrLeuPheTyrSerCysPheTyrHisTyrThrGluAlaGluGlyThrPheSerSerProValAsnLeuLysLysThrPheLysIleProAspLysGlnTyrValLeuThrAlaLeuAlaAlaArgAlaLysLeuArgAlaTrpAsnAspValAspAlaLeuPheThrThrLysAsnTrpLeuGlyTyrThrLysLysArgAlaProIleGlyPheHisArgValValGluIleLeuHisLysAsnAsnAlaProValGlnIleLeuGlnGluTyrValAsnLeuValGluAspValAspThrLysLeuAsnLeuAlaThrLysPheLysCysHisAspValValIleAspThrTyrArgAspLeuLysAspArgGlnGlnLeuLeuAlaTyrArgSerLysValAspLysGlySerAlaGluGluGluLysIleAspAlaLeuLeuSerSerSerGlnIleArgTrpLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS372199" }, { "coordinates": [ { "allele": "T", "end": 1104, "referenceAllele": "C", "start": 1103 } ], "gene": "http://reg.genome.network/gene/GN020347", "geneNCBI_id": 63894, "geneSymbol": "VIPAS39", "hgvs": [ "ENST00000557658.5:c.958C>T" ], "proteinEffect": { "hgvs": "ENSP00000452191.1:p.Arg320Ter", "hgvsWellDefined": "ENSP00000452191.1:p.Arg320_Asn493delinsLysHisProArgLysAlaSerIleLeuAsnMetProLeuValThrThrLeuPheTyrSerCysPheTyrHisTyrThrGluAlaGluGlyThrPheSerSerProValAsnLeuLysLysThrPheLysIleProAspLysGlnTyrValLeuThrAlaLeuAlaAlaArgAlaLysLeuArgAlaTrpAsnAspValAspAlaLeuPheThrThrLysAsnTrpLeuGlyTyrThrLysLysArgAlaProIleGlyPheHisArgValValGluIleLeuHisLysAsnAsnAlaProValGlnIleLeuGlnGluTyrValAsnLeuValGluAspValAspThrLysLeuAsnLeuAlaThrLysPheLysCysHisAspValValIleAspThrTyrArgAspLeuLysAspArgGlnGlnLeuLeuAlaTyrArgSerLysValAspLysGlySerAlaGluGluGluLysIleAspAlaLeuLeuSerSerSerGlnIleArgTrpLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS373211" }, { "@id": "http://reg.genome.network/allele/PA2826178083", "coordinates": [ { "allele": "T", "end": 1504, "referenceAllele": "C", "start": 1503 } ], "gene": "http://reg.genome.network/gene/GN020347", "geneNCBI_id": 63894, "geneSymbol": "VIPAS39", "hgvs": [ "NM_001193314.1:c.958C>T" ], "proteinEffect": { "hgvs": "NP_001180243.1:p.Arg320Ter", "hgvsWellDefined": "NP_001180243.1:p.Arg320_Asn493delinsLysHisProArgLysAlaSerIleLeuAsnMetProLeuValThrThrLeuPheTyrSerCysPheTyrHisTyrThrGluAlaGluGlyThrPheSerSerProValAsnLeuLysLysThrPheLysIleProAspLysGlnTyrValLeuThrAlaLeuAlaAlaArgAlaLysLeuArgAlaTrpAsnAspValAspAlaLeuPheThrThrLysAsnTrpLeuGlyTyrThrLysLysArgAlaProIleGlyPheHisArgValValGluIleLeuHisLysAsnAsnAlaProValGlnIleLeuGlnGluTyrValAsnLeuValGluAspValAspThrLysLeuAsnLeuAlaThrLysPheLysCysHisAspValValIleAspThrTyrArgAspLeuLysAspArgGlnGlnLeuLeuAlaTyrArgSerLysValAspLysGlySerAlaGluGluGluLysIleAspAlaLeuLeuSerSerSerGlnIleArgTrpLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS016344" }, { "@id": "http://reg.genome.network/allele/PA2826178205", "coordinates": [ { "allele": "T", "end": 1104, "referenceAllele": "C", "start": 1103 } ], "gene": "http://reg.genome.network/gene/GN020347", "geneNCBI_id": 63894, "geneSymbol": "VIPAS39", "hgvs": [ "NM_001193315.1:c.958C>T" ], "proteinEffect": { "hgvs": "NP_001180244.1:p.Arg320Ter", "hgvsWellDefined": "NP_001180244.1:p.Arg320_Asn493delinsLysHisProArgLysAlaSerIleLeuAsnMetProLeuValThrThrLeuPheTyrSerCysPheTyrHisTyrThrGluAlaGluGlyThrPheSerSerProValAsnLeuLysLysThrPheLysIleProAspLysGlnTyrValLeuThrAlaLeuAlaAlaArgAlaLysLeuArgAlaTrpAsnAspValAspAlaLeuPheThrThrLysAsnTrpLeuGlyTyrThrLysLysArgAlaProIleGlyPheHisArgValValGluIleLeuHisLysAsnAsnAlaProValGlnIleLeuGlnGluTyrValAsnLeuValGluAspValAspThrLysLeuAsnLeuAlaThrLysPheLysCysHisAspValValIleAspThrTyrArgAspLeuLysAspArgGlnGlnLeuLeuAlaTyrArgSerLysValAspLysGlySerAlaGluGluGluLysIleAspAlaLeuLeuSerSerSerGlnIleArgTrpLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS016345" }, { "@id": "http://reg.genome.network/allele/PA2826178317", "coordinates": [ { "allele": "T", "end": 957, "referenceAllele": "C", "start": 956 } ], "gene": "http://reg.genome.network/gene/GN020347", "geneNCBI_id": 63894, "geneSymbol": "VIPAS39", "hgvs": [ "NM_001193316.1:c.811C>T" ], "proteinEffect": { "hgvs": "NP_001180245.1:p.Arg271Ter", "hgvsWellDefined": "NP_001180245.1:p.Arg271_Asn444delinsLysHisProArgLysAlaSerIleLeuAsnMetProLeuValThrThrLeuPheTyrSerCysPheTyrHisTyrThrGluAlaGluGlyThrPheSerSerProValAsnLeuLysLysThrPheLysIleProAspLysGlnTyrValLeuThrAlaLeuAlaAlaArgAlaLysLeuArgAlaTrpAsnAspValAspAlaLeuPheThrThrLysAsnTrpLeuGlyTyrThrLysLysArgAlaProIleGlyPheHisArgValValGluIleLeuHisLysAsnAsnAlaProValGlnIleLeuGlnGluTyrValAsnLeuValGluAspValAspThrLysLeuAsnLeuAlaThrLysPheLysCysHisAspValValIleAspThrTyrArgAspLeuLysAspArgGlnGlnLeuLeuAlaTyrArgSerLysValAspLysGlySerAlaGluGluGluLysIleAspAlaLeuLeuSerSerSerGlnIleArgTrpLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS016346" }, { "@id": "http://reg.genome.network/allele/PA2826178445", "coordinates": [ { "allele": "T", "end": 1281, "referenceAllele": "C", "start": 1280 } ], "gene": "http://reg.genome.network/gene/GN020347", "geneNCBI_id": 63894, "geneSymbol": "VIPAS39", "hgvs": [ "NM_001193317.1:c.958C>T" ], "proteinEffect": { "hgvs": "NP_001180246.1:p.Arg320Ter", "hgvsWellDefined": "NP_001180246.1:p.Arg320_Asn493delinsLysHisProArgLysAlaSerIleLeuAsnMetProLeuValThrThrLeuPheTyrSerCysPheTyrHisTyrThrGluAlaGluGlyThrPheSerSerProValAsnLeuLysLysThrPheLysIleProAspLysGlnTyrValLeuThrAlaLeuAlaAlaArgAlaLysLeuArgAlaTrpAsnAspValAspAlaLeuPheThrThrLysAsnTrpLeuGlyTyrThrLysLysArgAlaProIleGlyPheHisArgValValGluIleLeuHisLysAsnAsnAlaProValGlnIleLeuGlnGluTyrValAsnLeuValGluAspValAspThrLysLeuAsnLeuAlaThrLysPheLysCysHisAspValValIleAspThrTyrArgAspLeuLysAspArgGlnGlnLeuLeuAlaTyrArgSerLysValAspLysGlySerAlaGluGluGluLysIleAspAlaLeuLeuSerSerSerGlnIleArgTrpLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS016347" }, { "@id": "http://reg.genome.network/allele/PA658807709", "coordinates": [ { "allele": "T", "end": 1375, "referenceAllele": "C", "start": 1374 } ], "gene": "http://reg.genome.network/gene/GN020347", "geneNCBI_id": 63894, "geneSymbol": "VIPAS39", "hgvs": [ "NM_022067.3:c.958C>T" ], "proteinEffect": { "hgvs": "NP_071350.2:p.Arg320Ter", "hgvsWellDefined": "NP_071350.2:p.Arg320_Asn493delinsLysHisProArgLysAlaSerIleLeuAsnMetProLeuValThrThrLeuPheTyrSerCysPheTyrHisTyrThrGluAlaGluGlyThrPheSerSerProValAsnLeuLysLysThrPheLysIleProAspLysGlnTyrValLeuThrAlaLeuAlaAlaArgAlaLysLeuArgAlaTrpAsnAspValAspAlaLeuPheThrThrLysAsnTrpLeuGlyTyrThrLysLysArgAlaProIleGlyPheHisArgValValGluIleLeuHisLysAsnAsnAlaProValGlnIleLeuGlnGluTyrValAsnLeuValGluAspValAspThrLysLeuAsnLeuAlaThrLysPheLysCysHisAspValValIleAspThrTyrArgAspLeuLysAspArgGlnGlnLeuLeuAlaTyrArgSerLysValAspLysGlySerAlaGluGluGluLysIleAspAlaLeuLeuSerSerSerGlnIleArgTrpLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS037170" }, { "coordinates": [ { "allele": "T", "end": 1002, "referenceAllele": "C", "start": 1001 } ], "gene": "http://reg.genome.network/gene/GN020347", "geneNCBI_id": 63894, "geneSymbol": "VIPAS39", "hgvs": [ "XM_011537066.1:c.865C>T" ], "proteinEffect": { "hgvs": "XP_011535368.1:p.Arg289Ter", "hgvsWellDefined": "XP_011535368.1:p.Arg289_Asn462delinsLysHisProArgLysAlaSerIleLeuAsnMetProLeuValThrThrLeuPheTyrSerCysPheTyrHisTyrThrGluAlaGluGlyThrPheSerSerProValAsnLeuLysLysThrPheLysIleProAspLysGlnTyrValLeuThrAlaLeuAlaAlaArgAlaLysLeuArgAlaTrpAsnAspValAspAlaLeuPheThrThrLysAsnTrpLeuGlyTyrThrLysLysArgAlaProIleGlyPheHisArgValValGluIleLeuHisLysAsnAsnAlaProValGlnIleLeuGlnGluTyrValAsnLeuValGluAspValAspThrLysLeuAsnLeuAlaThrLysPheLysCysHisAspValValIleAspThrTyrArgAspLeuLysAspArgGlnGlnLeuLeuAlaTyrArgSerLysValAspLysGlySerAlaGluGluGluLysIleAspAlaLeuLeuSerSerSerGlnIleArgTrpLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS104036" }, { "coordinates": [ { "allele": "T", "end": 989, "referenceAllele": "C", "start": 988 } ], "gene": "http://reg.genome.network/gene/GN020347", "geneNCBI_id": 63894, "geneSymbol": "VIPAS39", "hgvs": [ "XM_011537066.2:c.865C>T" ], "proteinEffect": { "hgvs": "XP_011535368.1:p.Arg289Ter", "hgvsWellDefined": "XP_011535368.1:p.Arg289_Asn462delinsLysHisProArgLysAlaSerIleLeuAsnMetProLeuValThrThrLeuPheTyrSerCysPheTyrHisTyrThrGluAlaGluGlyThrPheSerSerProValAsnLeuLysLysThrPheLysIleProAspLysGlnTyrValLeuThrAlaLeuAlaAlaArgAlaLysLeuArgAlaTrpAsnAspValAspAlaLeuPheThrThrLysAsnTrpLeuGlyTyrThrLysLysArgAlaProIleGlyPheHisArgValValGluIleLeuHisLysAsnAsnAlaProValGlnIleLeuGlnGluTyrValAsnLeuValGluAspValAspThrLysLeuAsnLeuAlaThrLysPheLysCysHisAspValValIleAspThrTyrArgAspLeuLysAspArgGlnGlnLeuLeuAlaTyrArgSerLysValAspLysGlySerAlaGluGluGluLysIleAspAlaLeuLeuSerSerSerGlnIleArgTrpLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS552739" }, { "coordinates": [ { "allele": "T", "end": 1080, "referenceAllele": "C", "start": 1079 } ], "gene": "http://reg.genome.network/gene/GN020347", "geneNCBI_id": 63894, "geneSymbol": "VIPAS39", "hgvs": [ "XM_017021580.2:c.958C>T" ], "proteinEffect": { "hgvs": "XP_016877069.1:p.Arg320Ter", "hgvsWellDefined": "XP_016877069.1:p.Arg320_Ser409delinsLysHisProArgLysAlaSerIleLeuAsnMetProLeuValThrThrLeuPheTyrSerCysPheTyrHisTyrThrGluAlaGluGlyThrPheSerSerProValAsnLeuLysLysThrPheLysIleProAspLysGlnTyrValLeuThrAlaLeuAlaAlaArgAlaLysLeuArgAlaTrpAsnAspValAspAlaLeuPheThrThrLysAlaAsnThrValLysSerLeuMetGlySerPheProAspLeuProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS572737" }, { "coordinates": [ { "allele": "T", "end": 1462, "referenceAllele": "C", "start": 1461 } ], "gene": "http://reg.genome.network/gene/GN020347", "geneNCBI_id": 63894, "geneSymbol": "VIPAS39", "hgvs": [ "XM_017021581.2:c.958C>T" ], "proteinEffect": { "hgvs": "XP_016877070.1:p.Arg320Ter", "hgvsWellDefined": "XP_016877070.1:p.Arg320_Ser409delinsLysHisProArgLysAlaSerIleLeuAsnMetProLeuValThrThrLeuPheTyrSerCysPheTyrHisTyrThrGluAlaGluGlyThrPheSerSerProValAsnLeuLysLysThrPheLysIleProAspLysGlnTyrValLeuThrAlaLeuAlaAlaArgAlaLysLeuArgAlaTrpAsnAspValAspAlaLeuPheThrThrLysAlaAsnThrValLysSerLeuMetGlySerPheProAspLeuProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS572738" }, { "coordinates": [ { "allele": "T", "end": 1369, "referenceAllele": "C", "start": 1368 } ], "gene": "http://reg.genome.network/gene/GN020347", "geneNCBI_id": 63894, "geneSymbol": "VIPAS39", "hgvs": [ "XM_024449688.1:c.865C>T" ], "proteinEffect": { "hgvs": "XP_024305456.1:p.Arg289Ter", "hgvsWellDefined": "XP_024305456.1:p.Arg289_Asn462delinsLysHisProArgLysAlaSerIleLeuAsnMetProLeuValThrThrLeuPheTyrSerCysPheTyrHisTyrThrGluAlaGluGlyThrPheSerSerProValAsnLeuLysLysThrPheLysIleProAspLysGlnTyrValLeuThrAlaLeuAlaAlaArgAlaLysLeuArgAlaTrpAsnAspValAspAlaLeuPheThrThrLysAsnTrpLeuGlyTyrThrLysLysArgAlaProIleGlyPheHisArgValValGluIleLeuHisLysAsnAsnAlaProValGlnIleLeuGlnGluTyrValAsnLeuValGluAspValAspThrLysLeuAsnLeuAlaThrLysPheLysCysHisAspValValIleAspThrTyrArgAspLeuLysAspArgGlnGlnLeuLeuAlaTyrArgSerLysValAspLysGlySerAlaGluGluGluLysIleAspAlaLeuLeuSerSerSerGlnIleArgTrpLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS583235" }, { "coordinates": [ { "allele": "T", "end": 1080, "referenceAllele": "C", "start": 1079 } ], "gene": "http://reg.genome.network/gene/GN020347", "geneNCBI_id": 63894, "geneSymbol": "VIPAS39", "hgvs": [ "XR_001750501.2:n.1080C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS597758" }, { "@id": "http://reg.genome.network/allele/PA2826178083", "coordinates": [ { "allele": "T", "end": 1465, "referenceAllele": "C", "start": 1464 } ], "gene": "http://reg.genome.network/gene/GN020347", "geneNCBI_id": 63894, "geneSymbol": "VIPAS39", "hgvs": [ "NM_001193314.2:c.958C>T" ], "proteinEffect": { "hgvs": "NP_001180243.1:p.Arg320Ter", "hgvsWellDefined": "NP_001180243.1:p.Arg320_Asn493delinsLysHisProArgLysAlaSerIleLeuAsnMetProLeuValThrThrLeuPheTyrSerCysPheTyrHisTyrThrGluAlaGluGlyThrPheSerSerProValAsnLeuLysLysThrPheLysIleProAspLysGlnTyrValLeuThrAlaLeuAlaAlaArgAlaLysLeuArgAlaTrpAsnAspValAspAlaLeuPheThrThrLysAsnTrpLeuGlyTyrThrLysLysArgAlaProIleGlyPheHisArgValValGluIleLeuHisLysAsnAsnAlaProValGlnIleLeuGlnGluTyrValAsnLeuValGluAspValAspThrLysLeuAsnLeuAlaThrLysPheLysCysHisAspValValIleAspThrTyrArgAspLeuLysAspArgGlnGlnLeuLeuAlaTyrArgSerLysValAspLysGlySerAlaGluGluGluLysIleAspAlaLeuLeuSerSerSerGlnIleArgTrpLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679192" }, { "@id": "http://reg.genome.network/allele/PA2826178317", "coordinates": [ { "allele": "T", "end": 918, "referenceAllele": "C", "start": 917 } ], "gene": "http://reg.genome.network/gene/GN020347", "geneNCBI_id": 63894, "geneSymbol": "VIPAS39", "hgvs": [ "NM_001193316.2:c.811C>T" ], "proteinEffect": { "hgvs": "NP_001180245.1:p.Arg271Ter", "hgvsWellDefined": "NP_001180245.1:p.Arg271_Asn444delinsLysHisProArgLysAlaSerIleLeuAsnMetProLeuValThrThrLeuPheTyrSerCysPheTyrHisTyrThrGluAlaGluGlyThrPheSerSerProValAsnLeuLysLysThrPheLysIleProAspLysGlnTyrValLeuThrAlaLeuAlaAlaArgAlaLysLeuArgAlaTrpAsnAspValAspAlaLeuPheThrThrLysAsnTrpLeuGlyTyrThrLysLysArgAlaProIleGlyPheHisArgValValGluIleLeuHisLysAsnAsnAlaProValGlnIleLeuGlnGluTyrValAsnLeuValGluAspValAspThrLysLeuAsnLeuAlaThrLysPheLysCysHisAspValValIleAspThrTyrArgAspLeuLysAspArgGlnGlnLeuLeuAlaTyrArgSerLysValAspLysGlySerAlaGluGluGluLysIleAspAlaLeuLeuSerSerSerGlnIleArgTrpLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679193" }, { "@id": "http://reg.genome.network/allele/PA2826178445", "coordinates": [ { "allele": "T", "end": 1242, "referenceAllele": "C", "start": 1241 } ], "gene": "http://reg.genome.network/gene/GN020347", "geneNCBI_id": 63894, "geneSymbol": "VIPAS39", "hgvs": [ "NM_001193317.2:c.958C>T" ], "proteinEffect": { "hgvs": "NP_001180246.1:p.Arg320Ter", "hgvsWellDefined": "NP_001180246.1:p.Arg320_Asn493delinsLysHisProArgLysAlaSerIleLeuAsnMetProLeuValThrThrLeuPheTyrSerCysPheTyrHisTyrThrGluAlaGluGlyThrPheSerSerProValAsnLeuLysLysThrPheLysIleProAspLysGlnTyrValLeuThrAlaLeuAlaAlaArgAlaLysLeuArgAlaTrpAsnAspValAspAlaLeuPheThrThrLysAsnTrpLeuGlyTyrThrLysLysArgAlaProIleGlyPheHisArgValValGluIleLeuHisLysAsnAsnAlaProValGlnIleLeuGlnGluTyrValAsnLeuValGluAspValAspThrLysLeuAsnLeuAlaThrLysPheLysCysHisAspValValIleAspThrTyrArgAspLeuLysAspArgGlnGlnLeuLeuAlaTyrArgSerLysValAspLysGlySerAlaGluGluGluLysIleAspAlaLeuLeuSerSerSerGlnIleArgTrpLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679194" }, { "@id": "http://reg.genome.network/allele/PA658807709", "coordinates": [ { "allele": "T", "end": 1336, "referenceAllele": "C", "start": 1335 } ], "gene": "http://reg.genome.network/gene/GN020347", "geneNCBI_id": 63894, "geneSymbol": "VIPAS39", "hgvs": [ "NM_022067.4:c.958C>T" ], "proteinEffect": { "hgvs": "NP_071350.2:p.Arg320Ter", "hgvsWellDefined": "NP_071350.2:p.Arg320_Asn493delinsLysHisProArgLysAlaSerIleLeuAsnMetProLeuValThrThrLeuPheTyrSerCysPheTyrHisTyrThrGluAlaGluGlyThrPheSerSerProValAsnLeuLysLysThrPheLysIleProAspLysGlnTyrValLeuThrAlaLeuAlaAlaArgAlaLysLeuArgAlaTrpAsnAspValAspAlaLeuPheThrThrLysAsnTrpLeuGlyTyrThrLysLysArgAlaProIleGlyPheHisArgValValGluIleLeuHisLysAsnAsnAlaProValGlnIleLeuGlnGluTyrValAsnLeuValGluAspValAspThrLysLeuAsnLeuAlaThrLysPheLysCysHisAspValValIleAspThrTyrArgAspLeuLysAspArgGlnGlnLeuLeuAlaTyrArgSerLysValAspLysGlySerAlaGluGluGluLysIleAspAlaLeuLeuSerSerSerGlnIleArgTrpLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS698492" }, { "@id": "http://reg.genome.network/allele/PA2826178205", "coordinates": [ { "allele": "T", "end": 1065, "referenceAllele": "C", "start": 1064 } ], "gene": "http://reg.genome.network/gene/GN020347", "geneNCBI_id": 63894, "geneSymbol": "VIPAS39", "hgvs": [ "NM_001193315.2:c.958C>T" ], "proteinEffect": { "hgvs": "NP_001180244.1:p.Arg320Ter", "hgvsWellDefined": "NP_001180244.1:p.Arg320_Asn493delinsLysHisProArgLysAlaSerIleLeuAsnMetProLeuValThrThrLeuPheTyrSerCysPheTyrHisTyrThrGluAlaGluGlyThrPheSerSerProValAsnLeuLysLysThrPheLysIleProAspLysGlnTyrValLeuThrAlaLeuAlaAlaArgAlaLysLeuArgAlaTrpAsnAspValAspAlaLeuPheThrThrLysAsnTrpLeuGlyTyrThrLysLysArgAlaProIleGlyPheHisArgValValGluIleLeuHisLysAsnAsnAlaProValGlnIleLeuGlnGluTyrValAsnLeuValGluAspValAspThrLysLeuAsnLeuAlaThrLysPheLysCysHisAspValValIleAspThrTyrArgAspLeuLysAspArgGlnGlnLeuLeuAlaTyrArgSerLysValAspLysGlySerAlaGluGluGluLysIleAspAlaLeuLeuSerSerSerGlnIleArgTrpLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713725", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000557658.6:c.958C>T" }, "RefSeq": { "hgvs": "NM_001193315.2:c.958C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000452191.1:p.Arg320Ter" }, "RefSeq": { "hgvs": "NP_001180244.1:p.Arg320Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1189, "referenceAllele": "C", "start": 1188 } ], "gene": "http://reg.genome.network/gene/GN020347", "geneNCBI_id": 63894, "geneSymbol": "VIPAS39", "hgvs": [ "NM_001400324.1:c.811C>T" ], "proteinEffect": { "hgvs": "NP_001387253.1:p.Arg271Ter", "hgvsWellDefined": "NP_001387253.1:p.Arg271_Asn444delinsLysHisProArgLysAlaSerIleLeuAsnMetProLeuValThrThrLeuPheTyrSerCysPheTyrHisTyrThrGluAlaGluGlyThrPheSerSerProValAsnLeuLysLysThrPheLysIleProAspLysGlnTyrValLeuThrAlaLeuAlaAlaArgAlaLysLeuArgAlaTrpAsnAspValAspAlaLeuPheThrThrLysAsnTrpLeuGlyTyrThrLysLysArgAlaProIleGlyPheHisArgValValGluIleLeuHisLysAsnAsnAlaProValGlnIleLeuGlnGluTyrValAsnLeuValGluAspValAspThrLysLeuAsnLeuAlaThrLysPheLysCysHisAspValValIleAspThrTyrArgAspLeuLysAspArgGlnGlnLeuLeuAlaTyrArgSerLysValAspLysGlySerAlaGluGluGluLysIleAspAlaLeuLeuSerSerSerGlnIleArgTrpLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS783676" }, { "coordinates": [ { "allele": "T", "end": 1318, "referenceAllele": "C", "start": 1317 } ], "gene": "http://reg.genome.network/gene/GN020347", "geneNCBI_id": 63894, "geneSymbol": "VIPAS39", "hgvs": [ "NM_001400325.1:c.811C>T" ], "proteinEffect": { "hgvs": "NP_001387254.1:p.Arg271Ter", "hgvsWellDefined": "NP_001387254.1:p.Arg271_Asn444delinsLysHisProArgLysAlaSerIleLeuAsnMetProLeuValThrThrLeuPheTyrSerCysPheTyrHisTyrThrGluAlaGluGlyThrPheSerSerProValAsnLeuLysLysThrPheLysIleProAspLysGlnTyrValLeuThrAlaLeuAlaAlaArgAlaLysLeuArgAlaTrpAsnAspValAspAlaLeuPheThrThrLysAsnTrpLeuGlyTyrThrLysLysArgAlaProIleGlyPheHisArgValValGluIleLeuHisLysAsnAsnAlaProValGlnIleLeuGlnGluTyrValAsnLeuValGluAspValAspThrLysLeuAsnLeuAlaThrLysPheLysCysHisAspValValIleAspThrTyrArgAspLeuLysAspArgGlnGlnLeuLeuAlaTyrArgSerLysValAspLysGlySerAlaGluGluGluLysIleAspAlaLeuLeuSerSerSerGlnIleArgTrpLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS783677" }, { "coordinates": [ { "allele": "T", "end": 1384, "referenceAllele": "C", "start": 1383 } ], "gene": "http://reg.genome.network/gene/GN020347", "geneNCBI_id": 63894, "geneSymbol": "VIPAS39", "hgvs": [ "NM_001400326.1:c.958C>T" ], "proteinEffect": { "hgvs": "NP_001387255.1:p.Arg320Ter", "hgvsWellDefined": "NP_001387255.1:p.Arg320_Asn493delinsLysHisProArgLysAlaSerIleLeuAsnMetProLeuValThrThrLeuPheTyrSerCysPheTyrHisTyrThrGluAlaGluGlyThrPheSerSerProValAsnLeuLysLysThrPheLysIleProAspLysGlnTyrValLeuThrAlaLeuAlaAlaArgAlaLysLeuArgAlaTrpAsnAspValAspAlaLeuPheThrThrLysAsnTrpLeuGlyTyrThrLysLysArgAlaProIleGlyPheHisArgValValGluIleLeuHisLysAsnAsnAlaProValGlnIleLeuGlnGluTyrValAsnLeuValGluAspValAspThrLysLeuAsnLeuAlaThrLysPheLysCysHisAspValValIleAspThrTyrArgAspLeuLysAspArgGlnGlnLeuLeuAlaTyrArgSerLysValAspLysGlySerAlaGluGluGluLysIleAspAlaLeuLeuSerSerSerGlnIleArgTrpLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS783678" }, { "coordinates": [ { "allele": "T", "end": 1032, "referenceAllele": "C", "start": 1031 } ], "gene": "http://reg.genome.network/gene/GN020347", "geneNCBI_id": 63894, "geneSymbol": "VIPAS39", "hgvs": [ "NM_001400327.1:c.925C>T" ], "proteinEffect": { "hgvs": "NP_001387256.1:p.Arg309Ter", "hgvsWellDefined": "NP_001387256.1:p.Arg309_Asn482delinsLysHisProArgLysAlaSerIleLeuAsnMetProLeuValThrThrLeuPheTyrSerCysPheTyrHisTyrThrGluAlaGluGlyThrPheSerSerProValAsnLeuLysLysThrPheLysIleProAspLysGlnTyrValLeuThrAlaLeuAlaAlaArgAlaLysLeuArgAlaTrpAsnAspValAspAlaLeuPheThrThrLysAsnTrpLeuGlyTyrThrLysLysArgAlaProIleGlyPheHisArgValValGluIleLeuHisLysAsnAsnAlaProValGlnIleLeuGlnGluTyrValAsnLeuValGluAspValAspThrLysLeuAsnLeuAlaThrLysPheLysCysHisAspValValIleAspThrTyrArgAspLeuLysAspArgGlnGlnLeuLeuAlaTyrArgSerLysValAspLysGlySerAlaGluGluGluLysIleAspAlaLeuLeuSerSerSerGlnIleArgTrpLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS783679" }, { "coordinates": [ { "allele": "T", "end": 1065, "referenceAllele": "C", "start": 1064 } ], "gene": "http://reg.genome.network/gene/GN020347", "geneNCBI_id": 63894, "geneSymbol": "VIPAS39", "hgvs": [ "NM_001400330.1:c.958C>T" ], "proteinEffect": { "hgvs": "NP_001387259.1:p.Arg320Ter", "hgvsWellDefined": "NP_001387259.1:p.Arg320_Asn464delinsLysHisProArgLysAlaSerIleLeuAsnMetProLeuValThrThrLeuPheTyrSerCysPheTyrHisTyrThrGluAlaGluGlyThrPheSerSerProValAsnLeuLysLysThrPheLysIleProAspLysGlnTyrValLeuThrAlaLeuAlaAlaArgAlaLysLeuArgAlaTrpAsnAspValAspAlaLeuPheThrThrLysIleLeuGlnGluTyrValAsnLeuValGluAspValAspThrLysLeuAsnLeuAlaThrLysPheLysCysHisAspValValIleAspThrTyrArgAspLeuLysAspArgGlnGlnLeuLeuAlaTyrArgSerLysValAspLysGlySerAlaGluGluGluLysIleAspAlaLeuLeuSerSerSerGlnIleArgTrpLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS783682" }, { "coordinates": [ { "allele": "T", "end": 1465, "referenceAllele": "C", "start": 1464 } ], "gene": "http://reg.genome.network/gene/GN020347", "geneNCBI_id": 63894, "geneSymbol": "VIPAS39", "hgvs": [ "NM_001400331.1:c.958C>T" ], "proteinEffect": { "hgvs": "NP_001387260.1:p.Arg320Ter", "hgvsWellDefined": "NP_001387260.1:p.Arg320_Asn464delinsLysHisProArgLysAlaSerIleLeuAsnMetProLeuValThrThrLeuPheTyrSerCysPheTyrHisTyrThrGluAlaGluGlyThrPheSerSerProValAsnLeuLysLysThrPheLysIleProAspLysGlnTyrValLeuThrAlaLeuAlaAlaArgAlaLysLeuArgAlaTrpAsnAspValAspAlaLeuPheThrThrLysIleLeuGlnGluTyrValAsnLeuValGluAspValAspThrLysLeuAsnLeuAlaThrLysPheLysCysHisAspValValIleAspThrTyrArgAspLeuLysAspArgGlnGlnLeuLeuAlaTyrArgSerLysValAspLysGlySerAlaGluGluGluLysIleAspAlaLeuLeuSerSerSerGlnIleArgTrpLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS783683" }, { "coordinates": [ { "allele": "T", "end": 1336, "referenceAllele": "C", "start": 1335 } ], "gene": "http://reg.genome.network/gene/GN020347", "geneNCBI_id": 63894, "geneSymbol": "VIPAS39", "hgvs": [ "NM_001400332.1:c.958C>T" ], "proteinEffect": { "hgvs": "NP_001387261.1:p.Arg320Ter", "hgvsWellDefined": "NP_001387261.1:p.Arg320_Asn464delinsLysHisProArgLysAlaSerIleLeuAsnMetProLeuValThrThrLeuPheTyrSerCysPheTyrHisTyrThrGluAlaGluGlyThrPheSerSerProValAsnLeuLysLysThrPheLysIleProAspLysGlnTyrValLeuThrAlaLeuAlaAlaArgAlaLysLeuArgAlaTrpAsnAspValAspAlaLeuPheThrThrLysIleLeuGlnGluTyrValAsnLeuValGluAspValAspThrLysLeuAsnLeuAlaThrLysPheLysCysHisAspValValIleAspThrTyrArgAspLeuLysAspArgGlnGlnLeuLeuAlaTyrArgSerLysValAspLysGlySerAlaGluGluGluLysIleAspAlaLeuLeuSerSerSerGlnIleArgTrpLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS783684" }, { "coordinates": [ { "allele": "T", "end": 972, "referenceAllele": "C", "start": 971 } ], "gene": "http://reg.genome.network/gene/GN020347", "geneNCBI_id": 63894, "geneSymbol": "VIPAS39", "hgvs": [ "NM_001400333.1:c.865C>T" ], "proteinEffect": { "hgvs": "NP_001387262.1:p.Arg289Ter", "hgvsWellDefined": "NP_001387262.1:p.Arg289_Asn462delinsLysHisProArgLysAlaSerIleLeuAsnMetProLeuValThrThrLeuPheTyrSerCysPheTyrHisTyrThrGluAlaGluGlyThrPheSerSerProValAsnLeuLysLysThrPheLysIleProAspLysGlnTyrValLeuThrAlaLeuAlaAlaArgAlaLysLeuArgAlaTrpAsnAspValAspAlaLeuPheThrThrLysAsnTrpLeuGlyTyrThrLysLysArgAlaProIleGlyPheHisArgValValGluIleLeuHisLysAsnAsnAlaProValGlnIleLeuGlnGluTyrValAsnLeuValGluAspValAspThrLysLeuAsnLeuAlaThrLysPheLysCysHisAspValValIleAspThrTyrArgAspLeuLysAspArgGlnGlnLeuLeuAlaTyrArgSerLysValAspLysGlySerAlaGluGluGluLysIleAspAlaLeuLeuSerSerSerGlnIleArgTrpLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS783685" }, { "coordinates": [ { "allele": "T", "end": 1243, "referenceAllele": "C", "start": 1242 } ], "gene": "http://reg.genome.network/gene/GN020347", "geneNCBI_id": 63894, "geneSymbol": "VIPAS39", "hgvs": [ "NM_001400334.1:c.865C>T" ], "proteinEffect": { "hgvs": "NP_001387263.1:p.Arg289Ter", "hgvsWellDefined": "NP_001387263.1:p.Arg289_Asn462delinsLysHisProArgLysAlaSerIleLeuAsnMetProLeuValThrThrLeuPheTyrSerCysPheTyrHisTyrThrGluAlaGluGlyThrPheSerSerProValAsnLeuLysLysThrPheLysIleProAspLysGlnTyrValLeuThrAlaLeuAlaAlaArgAlaLysLeuArgAlaTrpAsnAspValAspAlaLeuPheThrThrLysAsnTrpLeuGlyTyrThrLysLysArgAlaProIleGlyPheHisArgValValGluIleLeuHisLysAsnAsnAlaProValGlnIleLeuGlnGluTyrValAsnLeuValGluAspValAspThrLysLeuAsnLeuAlaThrLysPheLysCysHisAspValValIleAspThrTyrArgAspLeuLysAspArgGlnGlnLeuLeuAlaTyrArgSerLysValAspLysGlySerAlaGluGluGluLysIleAspAlaLeuLeuSerSerSerGlnIleArgTrpLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS783686" }, { "coordinates": [ { "allele": "T", "end": 1065, "referenceAllele": "C", "start": 1064 } ], "gene": "http://reg.genome.network/gene/GN020347", "geneNCBI_id": 63894, "geneSymbol": "VIPAS39", "hgvs": [ "NM_001400335.1:c.958C>T" ], "proteinEffect": { "hgvs": "NP_001387264.1:p.Arg320Ter", "hgvsWellDefined": "NP_001387264.1:p.Arg320_Asn458delinsLysHisProArgLysAlaSerIleLeuAsnMetProLeuValThrThrLeuPheTyrSerCysPheTyrHisTyrThrGluAlaGluGlyThrPheSerSerProValAsnLeuLysLysThrPheLysIleProAspLysGlnTyrValLeuThrAlaLeuAlaAlaArgAlaLysLeuArgAlaTrpAsnAspValAspAlaLeuPheThrThrLysAsnTrpLeuGlyTyrThrLysLysArgAlaProIleGlyPheHisArgValValGluIleLeuHisLysAsnAsnAlaProValGlnIleLeuGlnGluTyrValAsnLeuValGluAspValAspThrLysLeuAsnLeuAlaThrLysPheLysCysHisAspValValIleAspGlnIleArgTrpLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS783687" }, { "coordinates": [ { "allele": "T", "end": 1019, "endIntronDirection": "+", "endIntronOffset": 496, "referenceAllele": "C", "start": 1019, "startIntronDirection": "+", "startIntronOffset": 495 } ], "gene": "http://reg.genome.network/gene/GN020347", "geneNCBI_id": 63894, "geneSymbol": "VIPAS39", "hgvs": [ "NM_001400336.1:c.912+496C>T" ], "proteinEffect": { "hgvs": "NP_001387265.1:n.912+496C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS783688" }, { "coordinates": [ { "allele": "T", "end": 825, "referenceAllele": "C", "start": 824 } ], "gene": "http://reg.genome.network/gene/GN020347", "geneNCBI_id": 63894, "geneSymbol": "VIPAS39", "hgvs": [ "NM_001400337.1:c.718C>T" ], "proteinEffect": { "hgvs": "NP_001387266.1:p.Arg240Ter", "hgvsWellDefined": "NP_001387266.1:p.Arg240_Asn413delinsLysHisProArgLysAlaSerIleLeuAsnMetProLeuValThrThrLeuPheTyrSerCysPheTyrHisTyrThrGluAlaGluGlyThrPheSerSerProValAsnLeuLysLysThrPheLysIleProAspLysGlnTyrValLeuThrAlaLeuAlaAlaArgAlaLysLeuArgAlaTrpAsnAspValAspAlaLeuPheThrThrLysAsnTrpLeuGlyTyrThrLysLysArgAlaProIleGlyPheHisArgValValGluIleLeuHisLysAsnAsnAlaProValGlnIleLeuGlnGluTyrValAsnLeuValGluAspValAspThrLysLeuAsnLeuAlaThrLysPheLysCysHisAspValValIleAspThrTyrArgAspLeuLysAspArgGlnGlnLeuLeuAlaTyrArgSerLysValAspLysGlySerAlaGluGluGluLysIleAspAlaLeuLeuSerSerSerGlnIleArgTrpLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS783689" }, { "coordinates": [ { "allele": "T", "end": 963, "referenceAllele": "C", "start": 962 } ], "gene": "http://reg.genome.network/gene/GN020347", "geneNCBI_id": 63894, "geneSymbol": "VIPAS39", "hgvs": [ "NM_001400338.1:c.856C>T" ], "proteinEffect": { "hgvs": "NP_001387267.1:p.Arg286Ter", "hgvsWellDefined": "NP_001387267.1:p.Arg286_Asn400delinsLysHisProArgLysAlaSerIleLeuAsnMetProLeuValThrThrLeuPheTyrSerCysPheTyrHisTyrThrGluAlaGluGlyThrPheSerSerProValAsnLeuLysLysThrPheLysIleLeuGlnGluTyrValAsnLeuValGluAspValAspThrLysLeuAsnLeuAlaThrLysPheLysCysHisAspValValIleAspThrTyrArgAspLeuLysAspArgGlnGlnLeuLeuAlaTyrArgSerLysValAspLysGlySerAlaGluGluGluLysIleAspAlaLeuLeuSerSerSerGlnIleArgTrpLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS783690" }, { "coordinates": [ { "allele": "T", "end": 869, "endIntronDirection": "-", "endIntronOffset": 1044, "referenceAllele": "C", "start": 869, "startIntronDirection": "-", "startIntronOffset": 1045 } ], "gene": "http://reg.genome.network/gene/GN020347", "geneNCBI_id": 63894, "geneSymbol": "VIPAS39", "hgvs": [ "NM_001400339.1:c.763-1045C>T" ], "proteinEffect": { "hgvs": "NP_001387268.1:n.763-1045C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS783691" }, { "coordinates": [ { "allele": "T", "end": 1065, "referenceAllele": "C", "start": 1064 } ], "gene": "http://reg.genome.network/gene/GN020347", "geneNCBI_id": 63894, "geneSymbol": "VIPAS39", "hgvs": [ "NR_174476.1:n.1065C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS784919" } ], "type": "nucleotide" }