{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA135843", "communityStandardTitle": [ "NM_005228.5(EGFR):c.2303_2304delinsTT (p.Ser768Ile)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=54419[alleleid]", "alleleId": 54419, "preferredName": "NM_005228.5(EGFR):c.2303_2304delinsTT (p.Ser768Ile)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/45252", "RCV": [ "RCV000038408" ], "variationId": 45252 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.55249005_55249006delinsTT?assembly=hg19", "id": "chr7:g.55249005_55249006delinsTT" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.55181312_55181313delinsTT?assembly=hg38", "id": "chr7:g.55181312_55181313delinsTT" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/397517108", "rs": 397517108 } ] }, "genomicAlleles": [ { "chromosome": "7", "coordinates": [ { "allele": "TT", "end": 55181313, "referenceAllele": "GC", "start": 55181311 } ], "hgvs": [ "NC_000007.14:g.55181312_55181313delinsTT", "CM000669.2:g.55181312_55181313delinsTT" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000055" }, { "chromosome": "7", "coordinates": [ { "allele": "TT", "end": 55249006, "referenceAllele": "GC", "start": 55249004 } ], "hgvs": [ "NC_000007.13:g.55249005_55249006delinsTT", "CM000669.1:g.55249005_55249006delinsTT" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000031" }, { "chromosome": "7", "coordinates": [ { "allele": "TT", "end": 55216500, "referenceAllele": "GC", "start": 55216498 } ], "hgvs": [ "NC_000007.12:g.55216499_55216500delinsTT" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000007" }, { "coordinates": [ { "allele": "TT", "end": 167282, "referenceAllele": "GC", "start": 167280 } ], "hgvs": [ "NG_007726.3:g.167281_167282delinsTT", "LRG_304:g.167281_167282delinsTT" ], "referenceSequence": "http://reg.genome.network/refseq/RS000672" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "TT", "end": 2452, "referenceAllele": "GC", "start": 2450 } ], "gene": "http://reg.genome.network/gene/GN003236", "geneNCBI_id": 1956, "geneSymbol": "EGFR", "hgvs": [ "ENST00000450046.2:c.2144_2145delinsTT" ], "proteinEffect": { "hgvs": "ENSP00000413354.2:p.Ser715Ile", "hgvsWellDefined": "ENSP00000413354.2:p.Ser715Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS904989" }, { "coordinates": [ { "allele": "TT", "end": 653, "referenceAllele": "GC", "start": 651 } ], "gene": "http://reg.genome.network/gene/GN003236", "geneNCBI_id": 1956, "geneSymbol": "EGFR", "hgvs": [ "ENST00000700145.1:c.652_653delinsTT" ], "referenceSequence": "http://reg.genome.network/refseq/RS910995" }, { "coordinates": [ { "allele": "TT", "end": 2565, "referenceAllele": "GC", "start": 2563 } ], "gene": "http://reg.genome.network/gene/GN003236", "geneNCBI_id": 1956, "geneSymbol": "EGFR", "hgvs": [ "ENST00000275493.7:c.2303_2304delinsTT" ], "proteinEffect": { "hgvs": "ENSP00000275493.2:p.Ser768Ile", "hgvsWellDefined": "ENSP00000275493.2:p.Ser768Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS743395", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000275493.7:c.2303_2304delinsTT" }, "RefSeq": { "hgvs": "NM_005228.5:c.2303_2304delinsTT" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000275493.2:p.Ser768Ile" }, "RefSeq": { "hgvs": "NP_005219.2:p.Ser768Ile" } } } }, { "coordinates": [ { "allele": "TT", "end": 2481, "referenceAllele": "GC", "start": 2479 } ], "gene": "http://reg.genome.network/gene/GN003236", "geneNCBI_id": 1956, "geneSymbol": "EGFR", "hgvs": [ "ENST00000275493.6:c.2303_2304delinsTT" ], "proteinEffect": { "hgvs": "ENSP00000275493.2:p.Ser768Ile", "hgvsWellDefined": "ENSP00000275493.2:p.Ser768Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS252621" }, { "coordinates": [ { "allele": "TT", "end": 2162, "endIntronDirection": "+", "endIntronOffset": 8385, "referenceAllele": "GC", "start": 2162, "startIntronDirection": "+", "startIntronOffset": 8383 } ], "gene": "http://reg.genome.network/gene/GN003236", "geneNCBI_id": 1956, "geneSymbol": "EGFR", "hgvs": [ "ENST00000442591.5:c.*28+8384_*28+8385delinsTT" ], "proteinEffect": { "hgvs": "ENSP00000410031.1:n.*28+8384_*28+8385delinsTT" }, "referenceSequence": "http://reg.genome.network/refseq/RS296950" }, { "coordinates": [ { "allele": "TT", "end": 2415, "referenceAllele": "GC", "start": 2413 } ], "gene": "http://reg.genome.network/gene/GN003236", "geneNCBI_id": 1956, "geneSymbol": "EGFR", "hgvs": [ "ENST00000454757.6:c.2168_2169delinsTT" ], "proteinEffect": { "hgvs": "ENSP00000395243.3:p.Ser723Ile", "hgvsWellDefined": "ENSP00000395243.3:p.Ser723Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS302708" }, { "coordinates": [ { "allele": "TT", "end": 2426, "referenceAllele": "GC", "start": 2424 } ], "gene": "http://reg.genome.network/gene/GN003236", "geneNCBI_id": 1956, "geneSymbol": "EGFR", "hgvs": [ "ENST00000455089.5:c.2168_2169delinsTT" ], "proteinEffect": { "hgvs": "ENSP00000415559.1:p.Ser723Ile", "hgvsWellDefined": "ENSP00000415559.1:p.Ser723Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS302870" }, { "@id": "http://reg.genome.network/allele/PA135842", "coordinates": [ { "allele": "TT", "end": 2550, "referenceAllele": "GC", "start": 2548 } ], "gene": "http://reg.genome.network/gene/GN003236", "geneNCBI_id": 1956, "geneSymbol": "EGFR", "hgvs": [ "NM_005228.3:c.2303_2304delinsTT", "LRG_304t1:c.2303_2304delinsTT" ], "proteinEffect": { "hgvs": "NP_005219.2:p.Ser768Ile", "hgvsWellDefined": "NP_005219.2:p.Ser768Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS030340" }, { "coordinates": [ { "allele": "AA", "end": 1259, "referenceAllele": "GC", "start": 1257 } ], "gene": "http://reg.genome.network/gene/GN040207", "geneNCBI_id": 100507500, "geneSymbol": "EGFR-AS1", "hgvs": [ "NR_047551.1:n.1258_1259delinsAA" ], "referenceSequence": "http://reg.genome.network/refseq/RS051997" }, { "@id": "http://reg.genome.network/allele/PA2827388065", "coordinates": [ { "allele": "TT", "end": 2426, "referenceAllele": "GC", "start": 2424 } ], "gene": "http://reg.genome.network/gene/GN003236", "geneNCBI_id": 1956, "geneSymbol": "EGFR", "hgvs": [ "NM_001346897.1:c.2168_2169delinsTT" ], "proteinEffect": { "hgvs": "NP_001333826.1:p.Ser723Ile", "hgvsWellDefined": "NP_001333826.1:p.Ser723Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS517697" }, { "@id": "http://reg.genome.network/allele/PA2827389888", "coordinates": [ { "allele": "TT", "end": 2561, "referenceAllele": "GC", "start": 2559 } ], "gene": "http://reg.genome.network/gene/GN003236", "geneNCBI_id": 1956, "geneSymbol": "EGFR", "hgvs": [ "NM_001346898.1:c.2303_2304delinsTT" ], "proteinEffect": { "hgvs": "NP_001333827.1:p.Ser768Ile", "hgvsWellDefined": "NP_001333827.1:p.Ser768Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS517698" }, { "@id": "http://reg.genome.network/allele/PA2827391621", "coordinates": [ { "allele": "TT", "end": 2426, "referenceAllele": "GC", "start": 2424 } ], "gene": "http://reg.genome.network/gene/GN003236", "geneNCBI_id": 1956, "geneSymbol": "EGFR", "hgvs": [ "NM_001346899.1:c.2168_2169delinsTT" ], "proteinEffect": { "hgvs": "NP_001333828.1:p.Ser723Ile", "hgvsWellDefined": "NP_001333828.1:p.Ser723Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS517699" }, { "@id": "http://reg.genome.network/allele/PA2827393397", "coordinates": [ { "allele": "TT", "end": 2358, "referenceAllele": "GC", "start": 2356 } ], "gene": "http://reg.genome.network/gene/GN003236", "geneNCBI_id": 1956, "geneSymbol": "EGFR", "hgvs": [ "NM_001346900.1:c.2144_2145delinsTT" ], "proteinEffect": { "hgvs": "NP_001333829.1:p.Ser715Ile", "hgvsWellDefined": "NP_001333829.1:p.Ser715Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS517700" }, { "@id": "http://reg.genome.network/allele/PA2827395258", "coordinates": [ { "allele": "TT", "end": 1760, "referenceAllele": "GC", "start": 1758 } ], "gene": "http://reg.genome.network/gene/GN003236", "geneNCBI_id": 1956, "geneSymbol": "EGFR", "hgvs": [ "NM_001346941.1:c.1502_1503delinsTT" ], "proteinEffect": { "hgvs": "NP_001333870.1:p.Ser501Ile", "hgvsWellDefined": "NP_001333870.1:p.Ser501Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS517714" }, { "@id": "http://reg.genome.network/allele/PA135842", "coordinates": [ { "allele": "TT", "end": 2561, "referenceAllele": "GC", "start": 2559 } ], "gene": "http://reg.genome.network/gene/GN003236", "geneNCBI_id": 1956, "geneSymbol": "EGFR", "hgvs": [ "NM_005228.4:c.2303_2304delinsTT" ], "proteinEffect": { "hgvs": "NP_005219.2:p.Ser768Ile", "hgvsWellDefined": "NP_005219.2:p.Ser768Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS525294" }, { "@id": "http://reg.genome.network/allele/PA135842", "coordinates": [ { "allele": "TT", "end": 2565, "referenceAllele": "GC", "start": 2563 } ], "gene": "http://reg.genome.network/gene/GN003236", "geneNCBI_id": 1956, "geneSymbol": "EGFR", "hgvs": [ "NM_005228.5:c.2303_2304delinsTT" ], "proteinEffect": { "hgvs": "NP_005219.2:p.Ser768Ile", "hgvsWellDefined": "NP_005219.2:p.Ser768Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS666873", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000275493.7:c.2303_2304delinsTT" }, "RefSeq": { "hgvs": "NM_005228.5:c.2303_2304delinsTT" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000275493.2:p.Ser768Ile" }, "RefSeq": { "hgvs": "NP_005219.2:p.Ser768Ile" } } } }, { "@id": "http://reg.genome.network/allele/PA2827388065", "coordinates": [ { "allele": "TT", "end": 2430, "referenceAllele": "GC", "start": 2428 } ], "gene": "http://reg.genome.network/gene/GN003236", "geneNCBI_id": 1956, "geneSymbol": "EGFR", "hgvs": [ "NM_001346897.2:c.2168_2169delinsTT" ], "proteinEffect": { "hgvs": "NP_001333826.1:p.Ser723Ile", "hgvsWellDefined": "NP_001333826.1:p.Ser723Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS687442" }, { "@id": "http://reg.genome.network/allele/PA2827389888", "coordinates": [ { "allele": "TT", "end": 2565, "referenceAllele": "GC", "start": 2563 } ], "gene": "http://reg.genome.network/gene/GN003236", "geneNCBI_id": 1956, "geneSymbol": "EGFR", "hgvs": [ "NM_001346898.2:c.2303_2304delinsTT" ], "proteinEffect": { "hgvs": "NP_001333827.1:p.Ser768Ile", "hgvsWellDefined": "NP_001333827.1:p.Ser768Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS687443" }, { "@id": "http://reg.genome.network/allele/PA2827393397", "coordinates": [ { "allele": "TT", "end": 2336, "referenceAllele": "GC", "start": 2334 } ], "gene": "http://reg.genome.network/gene/GN003236", "geneNCBI_id": 1956, "geneSymbol": "EGFR", "hgvs": [ "NM_001346900.2:c.2144_2145delinsTT" ], "proteinEffect": { "hgvs": "NP_001333829.1:p.Ser715Ile", "hgvsWellDefined": "NP_001333829.1:p.Ser715Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS687444" }, { "@id": "http://reg.genome.network/allele/PA2827395258", "coordinates": [ { "allele": "TT", "end": 1764, "referenceAllele": "GC", "start": 1762 } ], "gene": "http://reg.genome.network/gene/GN003236", "geneNCBI_id": 1956, "geneSymbol": "EGFR", "hgvs": [ "NM_001346941.2:c.1502_1503delinsTT" ], "proteinEffect": { "hgvs": "NP_001333870.1:p.Ser501Ile", "hgvsWellDefined": "NP_001333870.1:p.Ser501Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS687456" }, { "@id": "http://reg.genome.network/allele/PA2827391621", "coordinates": [ { "allele": "TT", "end": 2430, "referenceAllele": "GC", "start": 2428 } ], "gene": "http://reg.genome.network/gene/GN003236", "geneNCBI_id": 1956, "geneSymbol": "EGFR", "hgvs": [ "NM_001346899.2:c.2168_2169delinsTT" ], "proteinEffect": { "hgvs": "NP_001333828.1:p.Ser723Ile", "hgvsWellDefined": "NP_001333828.1:p.Ser723Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS719000" } ], "type": "nucleotide" }