{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA16041414", "communityStandardTitle": [ "NM_000051.4(ATM):c.5130_5131delinsAC (p.Trp1710Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=357908[alleleid]", "alleleId": 357908, "preferredName": "NM_000051.4(ATM):c.5130_5131delinsAC (p.Trp1710_Thr1711delinsTer)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/370262", "RCV": [ "RCV000410022" ], "variationId": 370262 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.108170565_108170566delinsAC?assembly=hg19", "id": "chr11:g.108170565_108170566delinsAC" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.108299838_108299839delinsAC?assembly=hg38", "id": "chr11:g.108299838_108299839delinsAC" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1057516358", "rs": 1057516358 } ] }, "genomicAlleles": [ { "chromosome": "11", "coordinates": [ { "allele": "AC", "end": 108299839, "referenceAllele": "GA", "start": 108299837 } ], "hgvs": [ "NC_000011.10:g.108299838_108299839delinsAC", "CM000673.2:g.108299838_108299839delinsAC" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000059" }, { "chromosome": "11", "coordinates": [ { "allele": "AC", "end": 108170566, "referenceAllele": "GA", "start": 108170564 } ], "hgvs": [ "NC_000011.9:g.108170565_108170566delinsAC", "CM000673.1:g.108170565_108170566delinsAC" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000035" }, { "chromosome": "11", "coordinates": [ { "allele": "AC", "end": 107675776, "referenceAllele": "GA", "start": 107675774 } ], "hgvs": [ "NC_000011.8:g.107675775_107675776delinsAC" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000011" }, { "coordinates": [ { "allele": "AC", "end": 82008, "referenceAllele": "GA", "start": 82006 } ], "hgvs": [ "NG_009830.1:g.82007_82008delinsAC", "LRG_135:g.82007_82008delinsAC" ], "referenceSequence": "http://reg.genome.network/refseq/RS001667" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "AC", "end": 5613, "referenceAllele": "GA", "start": 5611 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "ENST00000452508.7:c.5130_5131delinsAC" ], "proteinEffect": { "hgvs": "ENSP00000388058.2:p.Trp1710Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS914087" }, { "coordinates": [ { "allele": "AC", "end": 5259, "referenceAllele": "GA", "start": 5257 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "ENST00000713593.1:c.*4601_*4602delinsAC" ], "proteinEffect": { "hgvs": "ENSP00000518889.1:n.*4601_*4602delinsAC" }, "referenceSequence": "http://reg.genome.network/refseq/RS914869" }, { "coordinates": [ { "allele": "AC", "end": 5437, "referenceAllele": "GA", "start": 5435 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "ENST00000278616.9:c.5130_5131delinsAC" ], "proteinEffect": { "hgvs": "ENSP00000278616.4:p.Trp1710Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS823676" }, { "coordinates": [ { "allele": "AC", "end": 6615, "referenceAllele": "GA", "start": 6613 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "ENST00000683174.1:n.6614_6615delinsAC" ], "referenceSequence": "http://reg.genome.network/refseq/RS828158" }, { "coordinates": [ { "allele": "AC", "end": 355, "referenceAllele": "GA", "start": 353 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "ENST00000683524.1:n.354_355delinsAC" ], "referenceSequence": "http://reg.genome.network/refseq/RS828498" }, { "coordinates": [ { "allele": "AC", "end": 845, "referenceAllele": "GA", "start": 843 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "ENST00000684152.1:n.844_845delinsAC" ], "referenceSequence": "http://reg.genome.network/refseq/RS829110" }, { "coordinates": [ { "allele": "AC", "end": 4982, "referenceAllele": "GA", "start": 4980 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "ENST00000527805.6:c.*194_*195delinsAC" ], "proteinEffect": { "hgvs": "ENSP00000435747.2:n.*194_*195delinsAC" }, "referenceSequence": "http://reg.genome.network/refseq/RS759050" }, { "coordinates": [ { "allele": "AC", "end": 4965, "referenceAllele": "GA", "start": 4963 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "ENST00000675595.1:c.*194_*195delinsAC" ], "proteinEffect": { "hgvs": "ENSP00000502563.1:n.*194_*195delinsAC" }, "referenceSequence": "http://reg.genome.network/refseq/RS775391" }, { "coordinates": [ { "allele": "AC", "end": 5281, "referenceAllele": "GA", "start": 5279 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "ENST00000675843.1:c.5130_5131delinsAC" ], "proteinEffect": { "hgvs": "ENSP00000501606.1:p.Trp1710Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS775610", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000675843.1:c.5130_5131delinsAC" }, "RefSeq": { "hgvs": "NM_000051.4:c.5130_5131delinsAC" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000501606.1:p.Trp1710Ter" }, "RefSeq": { "hgvs": "NP_000042.3:p.Trp1710Ter" } } } }, { "coordinates": [ { "allele": "AC", "end": 5516, "referenceAllele": "GA", "start": 5514 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "ENST00000278616.8:c.5130_5131delinsAC" ], "proteinEffect": { "hgvs": "ENSP00000278616.4:p.Trp1710Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS252814" }, { "coordinates": [ { "allele": "AC", "end": 5320, "referenceAllele": "GA", "start": 5318 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "ENST00000452508.6:c.5130_5131delinsAC" ], "proteinEffect": { "hgvs": "ENSP00000388058.2:p.Trp1710Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS301658" }, { "coordinates": [ { "allele": "AC", "end": 1346, "referenceAllele": "GA", "start": 1344 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "ENST00000524792.5:n.1345_1346delinsAC" ], "referenceSequence": "http://reg.genome.network/refseq/RS350897" }, { "coordinates": [ { "allele": "AC", "end": 535, "referenceAllele": "GA", "start": 533 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "ENST00000533690.5:n.534_535delinsAC" ], "referenceSequence": "http://reg.genome.network/refseq/RS358422" }, { "coordinates": [ { "allele": "AC", "end": 360, "referenceAllele": "GA", "start": 358 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "ENST00000534625.1:n.359_360delinsAC" ], "referenceSequence": "http://reg.genome.network/refseq/RS359206" }, { "coordinates": [ { "allele": "AC", "end": 5516, "referenceAllele": "GA", "start": 5514 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "NM_000051.3:c.5130_5131delinsAC", "LRG_135t1:c.5130_5131delinsAC" ], "proteinEffect": { "hgvs": "NP_000042.3:p.Trp1710Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS006116" }, { "coordinates": [ { "allele": "AC", "end": 5339, "referenceAllele": "GA", "start": 5337 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_005271561.3:c.5130_5131delinsAC" ], "proteinEffect": { "hgvs": "XP_005271618.2:p.Trp1710Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS066924" }, { "coordinates": [ { "allele": "AC", "end": 5648, "referenceAllele": "GA", "start": 5646 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_005271562.3:c.5130_5131delinsAC" ], "proteinEffect": { "hgvs": "XP_005271619.2:p.Trp1710Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS066925" }, { "coordinates": [ { "allele": "AC", "end": 5271, "referenceAllele": "GA", "start": 5269 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_006718843.2:c.5130_5131delinsAC" ], "proteinEffect": { "hgvs": "XP_006718906.1:p.Trp1710Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS072818" }, { "coordinates": [ { "allele": "AC", "end": 1156, "referenceAllele": "GA", "start": 1154 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_006718845.1:c.1086_1087delinsAC" ], "proteinEffect": { "hgvs": "XP_006718908.1:p.Trp362Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS072819" }, { "coordinates": [ { "allele": "AC", "end": 5359, "referenceAllele": "GA", "start": 5357 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_011542840.1:c.5130_5131delinsAC" ], "proteinEffect": { "hgvs": "XP_011541142.1:p.Trp1710Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS109769" }, { "coordinates": [ { "allele": "AC", "end": 6042, "referenceAllele": "GA", "start": 6040 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_011542841.1:c.5130_5131delinsAC" ], "proteinEffect": { "hgvs": "XP_011541143.1:p.Trp1710Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS109770" }, { "coordinates": [ { "allele": "AC", "end": 5086, "referenceAllele": "GA", "start": 5084 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_011542842.1:c.4965_4966delinsAC" ], "proteinEffect": { "hgvs": "XP_011541144.1:p.Trp1655Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS109771" }, { "coordinates": [ { "allele": "AC", "end": 5848, "referenceAllele": "GA", "start": 5846 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_011542843.1:c.5130_5131delinsAC" ], "proteinEffect": { "hgvs": "XP_011541145.1:p.Trp1710Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS109772" }, { "coordinates": [ { "allele": "AC", "end": 4632, "referenceAllele": "GA", "start": 4630 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_011542844.1:c.4086_4087delinsAC" ], "proteinEffect": { "hgvs": "XP_011541146.1:p.Trp1362Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS109773" }, { "coordinates": [ { "allele": "AC", "end": 3979, "referenceAllele": "GA", "start": 3977 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_011542845.1:c.3822_3823delinsAC" ], "proteinEffect": { "hgvs": "XP_011541147.1:p.Trp1274Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS109774" }, { "coordinates": [ { "allele": "AC", "end": 5848, "referenceAllele": "GA", "start": 5846 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_011542846.1:c.5130_5131delinsAC" ], "proteinEffect": { "hgvs": "XP_011541148.1:p.Trp1710Ter", "hgvsWellDefined": "XP_011541148.1:p.Trp1710_Ile1780delinsThrPheIleMetLeuThrTyrLeuAsnAsnThrLeuValGluAspCysValLysValArgSerAlaAlaValThrCysLeuLysAsnIleLeuAlaThrLysThrGlyHisSerPheTrpGluIleTyrLysMetThrThrAspProMetLeuAlaTyrLeuGlnProPheArgThrSerArgLysLysValPheArgSerThrGlnIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS109775" }, { "coordinates": [ { "allele": "AC", "end": 242, "referenceAllele": "GA", "start": 240 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_011542847.1:c.201_202delinsAC" ], "proteinEffect": { "hgvs": "XP_011541149.1:p.Trp67Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS109776" }, { "coordinates": [ { "allele": "AC", "end": 5604, "referenceAllele": "GA", "start": 5602 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "NM_001351834.1:c.5130_5131delinsAC" ], "proteinEffect": { "hgvs": "NP_001338763.1:p.Trp1710Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS520485" }, { "coordinates": [ { "allele": "AC", "end": 5650, "referenceAllele": "GA", "start": 5648 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_005271562.5:c.5130_5131delinsAC" ], "proteinEffect": { "hgvs": "XP_005271619.2:p.Trp1710Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS537135" }, { "coordinates": [ { "allele": "AC", "end": 5283, "referenceAllele": "GA", "start": 5281 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_006718843.4:c.5130_5131delinsAC" ], "proteinEffect": { "hgvs": "XP_006718906.1:p.Trp1710Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS539722" }, { "coordinates": [ { "allele": "AC", "end": 1157, "referenceAllele": "GA", "start": 1155 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_006718845.2:c.1086_1087delinsAC" ], "proteinEffect": { "hgvs": "XP_006718908.1:p.Trp362Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS539723" }, { "coordinates": [ { "allele": "AC", "end": 5371, "referenceAllele": "GA", "start": 5369 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_011542840.3:c.5130_5131delinsAC" ], "proteinEffect": { "hgvs": "XP_011541142.1:p.Trp1710Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS554950" }, { "coordinates": [ { "allele": "AC", "end": 5346, "referenceAllele": "GA", "start": 5344 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_011542842.3:c.4965_4966delinsAC" ], "proteinEffect": { "hgvs": "XP_011541144.1:p.Trp1655Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS554951" }, { "coordinates": [ { "allele": "AC", "end": 5864, "referenceAllele": "GA", "start": 5862 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_011542843.2:c.5130_5131delinsAC" ], "proteinEffect": { "hgvs": "XP_011541145.1:p.Trp1710Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS554952" }, { "coordinates": [ { "allele": "AC", "end": 5467, "referenceAllele": "GA", "start": 5465 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_011542844.3:c.4086_4087delinsAC" ], "proteinEffect": { "hgvs": "XP_011541146.1:p.Trp1362Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS554953" }, { "coordinates": [ { "allele": "AC", "end": 3979, "referenceAllele": "GA", "start": 3977 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_011542845.2:c.3822_3823delinsAC" ], "proteinEffect": { "hgvs": "XP_011541147.1:p.Trp1274Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS554954" }, { "coordinates": [ { "allele": "AC", "end": 6074, "referenceAllele": "GA", "start": 6072 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_017017789.2:c.5130_5131delinsAC" ], "proteinEffect": { "hgvs": "XP_016873278.1:p.Trp1710Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS569897" }, { "coordinates": [ { "allele": "AC", "end": 5471, "referenceAllele": "GA", "start": 5469 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_017017790.2:c.5130_5131delinsAC" ], "proteinEffect": { "hgvs": "XP_016873279.1:p.Trp1710Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS569898" }, { "coordinates": [ { "allele": "AC", "end": 5864, "referenceAllele": "GA", "start": 5862 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_017017791.1:c.5130_5131delinsAC" ], "proteinEffect": { "hgvs": "XP_016873280.1:p.Trp1710Ter", "hgvsWellDefined": "XP_016873280.1:p.Trp1710_Tyr2158delinsThrPheIleMetLeuThrTyrLeuAsnAsnThrLeuValGluAspCysValLysValArgSerAlaAlaValThrCysLeuLysAsnIleLeuAlaThrLysThrGlyHisSerPheTrpGluIleTyrLysMetThrThrAspProMetLeuAlaTyrLeuGlnProPheArgThrSerArgLysLysPheLeuGluValProArgPheAspLysGluAsnProPheGluGlyLeuAspAspIleAsnLeuTrpIleProLeuSerGluAsnHisAspIleTrpIleLysThrLeuThrCysAlaPheLeuAspSerGlyGlyThrLysCysGluIleLeuGlnLeuLeuLysProMetCysGluValLysThrAspPheCysGlnThrValLeuProTyrLeuIleHisAspIleLeuLeuGlnAspThrAsnGluSerTrpArgAsnLeuLeuSerThrHisValGlnGlyPhePheThrSerCysLeuArgHisPheSerGlnThrSerArgSerThrThrProAlaAsnLeuAspSerGluSerGluHisPhePheArgCysCysLeuAspLysLysSerGlnArgThrMetLeuAlaValValAspTyrMetArgArgGlnLysArgProSerSerGlyThrIlePheAsnAspAlaPheTrpLeuAspLeuAsnTyrLeuGluValAlaLysValAlaGlnSerCysAlaAlaHisPheThrAlaLeuLeuTyrAlaGluIleTyrAlaAspLysLysSerMetAspAspGlnGluLysArgSerLeuAlaPheGluGluGlySerGlnSerThrThrIleSerSerLeuSerGluLysSerLysGluGluThrGlyIleSerLeuGlnAspLeuLeuLeuGluIleTyrArgSerIleGlyGluProAspSerLeuTyrGlyCysGlyGlyGlyLysMetLeuGlnProIleThrArgLeuArgThrTyrGluHisGluAlaMetTrpGlyLysAlaLeuValThrTyrAspLeuGluThrAlaIleProSerSerThrArgGlnAlaGlyIleIleGlnAlaLeuGlnAsnLeuGlyLeuCysHisIleLeuSerValTyrLeuLysGlyLeuAspTyrGluAsnLysAspTrpCysProGluLeuGluGluLeuHisTyrGlnAlaAlaTrpArgAsnMetGlnTrpAspHisCysThrSerValSerLysGluValGluGlyThrSerTyrHisGluSerLeuTyrAsnAlaLeuGlnSerLeuArgAspArgGluPheSerThrPheTyrGluSerLeuLysTyrAlaArgValSerPheLeuPheCysTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569899" }, { "coordinates": [ { "allele": "AC", "end": 5864, "referenceAllele": "GA", "start": 5862 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XM_017017792.2:c.5130_5131delinsAC" ], "proteinEffect": { "hgvs": "XP_016873281.1:p.Trp1710Ter", "hgvsWellDefined": "XP_016873281.1:p.Trp1710_Ser1775delinsThrPheIleMetLeuThrTyrLeuAsnAsnThrLeuValGluAspCysValLysValArgSerAlaAlaValThrCysLeuLysAsnIleLeuAlaThrLysThrGlyHisSerPheTrpGluIleTyrLysMetThrThrAspProMetLeuAlaTyrLeuGlnProPheArgThrSerArgLysLysValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569900" }, { "coordinates": [ { "allele": "AC", "end": 5731, "referenceAllele": "GA", "start": 5729 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XR_002957150.1:n.5730_5731delinsAC" ], "referenceSequence": "http://reg.genome.network/refseq/RS603286" }, { "coordinates": [ { "allele": "AC", "end": 5369, "referenceAllele": "GA", "start": 5367 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "NM_001351834.2:c.5130_5131delinsAC" ], "proteinEffect": { "hgvs": "NP_001338763.1:p.Trp1710Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS688979" }, { "coordinates": [ { "allele": "AC", "end": 5281, "referenceAllele": "GA", "start": 5279 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "NM_000051.4:c.5130_5131delinsAC" ], "proteinEffect": { "hgvs": "NP_000042.3:p.Trp1710Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS710791", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000675843.1:c.5130_5131delinsAC" }, "RefSeq": { "hgvs": "NM_000051.4:c.5130_5131delinsAC" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000501606.1:p.Trp1710Ter" }, "RefSeq": { "hgvs": "NP_000042.3:p.Trp1710Ter" } } } } ], "type": "nucleotide" }