{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA3250151730", "communityStandardTitle": [ "NM_001042492.3(NF1):c.7161_7162delinsAA (p.Asn2387_Phe2388delinsLysIle)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=4644403[alleleid]", "alleleId": 4644403, "preferredName": "NM_001042492.3(NF1):c.7161_7162delinsAA (p.Asn2387_Phe2388delinsLysIle)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4532919", "RCV": [ "RCV006261431" ], "variationId": 4532919 } ] }, "genomicAlleles": [ { "chromosome": "17", "coordinates": [ { "allele": "AA", "end": 31343108, "referenceAllele": "CT", "start": 31343106 } ], "hgvs": [ "NC_000017.11:g.31343107_31343108delinsAA", "CM000679.2:g.31343107_31343108delinsAA" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000065" }, { "chromosome": "17", "coordinates": [ { "allele": "AA", "end": 29670126, "referenceAllele": "CT", "start": 29670124 } ], "hgvs": [ "NC_000017.10:g.29670125_29670126delinsAA", "CM000679.1:g.29670125_29670126delinsAA" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000041" }, { "chromosome": "17", "coordinates": [ { "allele": "AA", "end": 26694252, "referenceAllele": "CT", "start": 26694250 } ], "hgvs": [ "NC_000017.9:g.26694251_26694252delinsAA" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000017" }, { "coordinates": [ { "allele": "AA", "end": 253132, "referenceAllele": "CT", "start": 253130 } ], "hgvs": [ "NG_009018.1:g.253131_253132delinsAA", "LRG_214:g.253131_253132delinsAA" ], "referenceSequence": "http://reg.genome.network/refseq/RS001383" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "AA", "end": 7527, "referenceAllele": "CT", "start": 7525 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "ENST00000696138.1:c.7143_7144delinsAA" ], "proteinEffect": { "hgvs": "ENSP00000512431.1:p.Asn2381_Phe2382delinsLysIle", "hgvsWellDefined": "ENSP00000512431.1:p.Asn2381_Phe2382delinsLysIle" }, "referenceSequence": "http://reg.genome.network/refseq/RS907613" }, { "coordinates": [ { "allele": "AA", "end": 2435, "referenceAllele": "CT", "start": 2433 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "ENST00000684826.1:c.1725_1726delinsAA" ], "proteinEffect": { "hgvs": "ENSP00000509994.1:p.Asn575_Phe576delinsLysIle", "hgvsWellDefined": "ENSP00000509994.1:p.Asn575_Phe576delinsLysIle" }, "referenceSequence": "http://reg.genome.network/refseq/RS829750" }, { "coordinates": [ { "allele": "AA", "end": 2095, "referenceAllele": "CT", "start": 2093 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "ENST00000687027.1:c.1317_1318delinsAA" ], "proteinEffect": { "hgvs": "ENSP00000508715.1:p.Asn439_Phe440delinsLysIle", "hgvsWellDefined": "ENSP00000508715.1:p.Asn439_Phe440delinsLysIle" }, "referenceSequence": "http://reg.genome.network/refseq/RS830869" }, { "coordinates": [ { "allele": "AA", "end": 3807, "referenceAllele": "CT", "start": 3805 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "ENST00000687863.1:n.3806_3807delinsAA" ], "referenceSequence": "http://reg.genome.network/refseq/RS831300" }, { "coordinates": [ { "allele": "AA", "end": 101, "referenceAllele": "CT", "start": 99 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "ENST00000689464.1:c.100_101delinsAA" ], "referenceSequence": "http://reg.genome.network/refseq/RS832182" }, { "coordinates": [ { "allele": "AA", "end": 7525, "referenceAllele": "CT", "start": 7523 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "ENST00000691014.1:c.7191_7192delinsAA" ], "proteinEffect": { "hgvs": "ENSP00000510595.1:p.Asn2397_Phe2398delinsLysIle", "hgvsWellDefined": "ENSP00000510595.1:p.Asn2397_Phe2398delinsLysIle" }, "referenceSequence": "http://reg.genome.network/refseq/RS832991" }, { "coordinates": [ { "allele": "AA", "end": 2611, "referenceAllele": "CT", "start": 2609 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "ENST00000693617.1:c.1725_1726delinsAA" ], "proteinEffect": { "hgvs": "ENSP00000510031.1:p.Asn575_Phe576delinsLysIle", "hgvsWellDefined": "ENSP00000510031.1:p.Asn575_Phe576delinsLysIle" }, "referenceSequence": "http://reg.genome.network/refseq/RS834335" }, { "coordinates": [ { "allele": "AA", "end": 7495, "referenceAllele": "CT", "start": 7493 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "ENST00000358273.9:c.7161_7162delinsAA" ], "proteinEffect": { "hgvs": "ENSP00000351015.4:p.Asn2387_Phe2388delinsLysIle", "hgvsWellDefined": "ENSP00000351015.4:p.Asn2387_Phe2388delinsLysIle" }, "referenceSequence": "http://reg.genome.network/refseq/RS749046", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000358273.9:c.7161_7162delinsAA" }, "RefSeq": { "hgvs": "NM_001042492.3:c.7161_7162delinsAA" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000351015.4:p.Asn2387_Phe2388delinsLysIle" }, "RefSeq": { "hgvs": "NP_001035957.1:p.Asn2387_Phe2388delinsLysIle" } } } }, { "coordinates": [ { "allele": "AA", "end": 7482, "referenceAllele": "CT", "start": 7480 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "ENST00000356175.7:c.7098_7099delinsAA" ], "proteinEffect": { "hgvs": "ENSP00000348498.3:p.Asn2366_Phe2367delinsLysIle", "hgvsWellDefined": "ENSP00000348498.3:p.Asn2366_Phe2367delinsLysIle" }, "referenceSequence": "http://reg.genome.network/refseq/RS263674" }, { "coordinates": [ { "allele": "AA", "end": 7545, "referenceAllele": "CT", "start": 7543 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "ENST00000358273.8:c.7161_7162delinsAA" ], "proteinEffect": { "hgvs": "ENSP00000351015.4:p.Asn2387_Phe2388delinsLysIle", "hgvsWellDefined": "ENSP00000351015.4:p.Asn2387_Phe2388delinsLysIle" }, "referenceSequence": "http://reg.genome.network/refseq/RS264392" }, { "coordinates": [ { "allele": "AA", "end": 6097, "referenceAllele": "CT", "start": 6095 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "ENST00000456735.6:c.6096_6097delinsAA" ], "proteinEffect": { "hgvs": "ENSP00000389907.2:p.Asn2032_Phe2033delinsLysIle", "hgvsWellDefined": "ENSP00000389907.2:p.Asn2032_Phe2033delinsLysIle" }, "referenceSequence": "http://reg.genome.network/refseq/RS303624" }, { "coordinates": [ { "allele": "AA", "end": 545, "referenceAllele": "CT", "start": 543 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "ENST00000471572.6:c.544_545delinsAA" ], "referenceSequence": "http://reg.genome.network/refseq/RS313743" }, { "coordinates": [ { "allele": "AA", "end": 7298, "referenceAllele": "CT", "start": 7296 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "ENST00000579081.5:c.7297_7298delinsAA" ], "proteinEffect": { "hgvs": "ENSP00000462408.1:n.7297_7298delinsAA" }, "referenceSequence": "http://reg.genome.network/refseq/RS385673" }, { "coordinates": [ { "allele": "AA", "end": 305, "referenceAllele": "CT", "start": 303 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "ENST00000581790.5:c.304_305delinsAA" ], "referenceSequence": "http://reg.genome.network/refseq/RS386959" }, { "coordinates": [ { "allele": "AA", "end": 404, "referenceAllele": "CT", "start": 402 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "ENST00000582892.1:n.403_404delinsAA" ], "referenceSequence": "http://reg.genome.network/refseq/RS387487" }, { "coordinates": [ { "allele": "AA", "end": 7482, "referenceAllele": "CT", "start": 7480 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "NM_000267.3:c.7098_7099delinsAA", "LRG_214t1:c.7098_7099delinsAA" ], "proteinEffect": { "hgvs": "NP_000258.1:p.Asn2366_Phe2367delinsLysIle", "hgvsWellDefined": "NP_000258.1:p.Asn2366_Phe2367delinsLysIle" }, "referenceSequence": "http://reg.genome.network/refseq/RS006329" }, { "@id": "http://reg.genome.network/allele/PA3249404424", "coordinates": [ { "allele": "AA", "end": 7545, "referenceAllele": "CT", "start": 7543 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "NM_001042492.2:c.7161_7162delinsAA", "LRG_214t2:c.7161_7162delinsAA" ], "proteinEffect": { "hgvs": "NP_001035957.1:p.Asn2387_Phe2388delinsLysIle", "hgvsWellDefined": "NP_001035957.1:p.Asn2387_Phe2388delinsLysIle" }, "referenceSequence": "http://reg.genome.network/refseq/RS009721" }, { "coordinates": [ { "allele": "AA", "end": 7495, "referenceAllele": "CT", "start": 7493 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "XM_005257983.1:c.7161_7162delinsAA" ], "proteinEffect": { "hgvs": "XP_005258040.1:p.Asn2387_Phe2388delinsLysIle", "hgvsWellDefined": "XP_005258040.1:p.Asn2387_Phe2388delinsLysIle" }, "referenceSequence": "http://reg.genome.network/refseq/RS061916" }, { "coordinates": [ { "allele": "AA", "end": 7432, "referenceAllele": "CT", "start": 7430 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "XM_005257984.1:c.7098_7099delinsAA" ], "proteinEffect": { "hgvs": "XP_005258041.1:p.Asn2366_Phe2367delinsLysIle", "hgvsWellDefined": "XP_005258041.1:p.Asn2366_Phe2367delinsLysIle" }, "referenceSequence": "http://reg.genome.network/refseq/RS061917" }, { "coordinates": [ { "allele": "AA", "end": 7525, "referenceAllele": "CT", "start": 7523 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "XM_006721922.1:c.7191_7192delinsAA" ], "proteinEffect": { "hgvs": "XP_006721985.1:p.Asn2397_Phe2398delinsLysIle", "hgvsWellDefined": "XP_006721985.1:p.Asn2397_Phe2398delinsLysIle" }, "referenceSequence": "http://reg.genome.network/refseq/RS074318" }, { "coordinates": [ { "allele": "AA", "end": 7792, "referenceAllele": "CT", "start": 7790 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "XM_006721923.2:c.7152_7153delinsAA" ], "proteinEffect": { "hgvs": "XP_006721986.1:p.Asn2384_Phe2385delinsLysIle", "hgvsWellDefined": "XP_006721986.1:p.Asn2384_Phe2385delinsLysIle" }, "referenceSequence": "http://reg.genome.network/refseq/RS074319" }, { "coordinates": [ { "allele": "AA", "end": 7525, "referenceAllele": "CT", "start": 7523 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "XM_006721924.1:c.7191_7192delinsAA" ], "proteinEffect": { "hgvs": "XP_006721987.1:p.Asn2397_Phe2398delinsLysIle", "hgvsWellDefined": "XP_006721987.1:p.Asn2397_Phe2398delinsLysIle" }, "referenceSequence": "http://reg.genome.network/refseq/RS074320" }, { "coordinates": [ { "allele": "AA", "end": 7462, "referenceAllele": "CT", "start": 7460 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "XM_006721925.1:c.7128_7129delinsAA" ], "proteinEffect": { "hgvs": "XP_006721988.1:p.Asn2376_Phe2377delinsLysIle", "hgvsWellDefined": "XP_006721988.1:p.Asn2376_Phe2377delinsLysIle" }, "referenceSequence": "http://reg.genome.network/refseq/RS074321" }, { "coordinates": [ { "allele": "AA", "end": 7525, "referenceAllele": "CT", "start": 7523 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "XM_006721926.2:c.7191_7192delinsAA" ], "proteinEffect": { "hgvs": "XP_006721989.1:p.Asn2397_Phe2398delinsLysIle", "hgvsWellDefined": "XP_006721989.1:p.Asn2397_Phe2398delinsLysIle" }, "referenceSequence": "http://reg.genome.network/refseq/RS074322" }, { "coordinates": [ { "allele": "AA", "end": 7525, "referenceAllele": "CT", "start": 7523 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "XM_006721927.1:c.7191_7192delinsAA" ], "proteinEffect": { "hgvs": "XP_006721990.1:p.Asn2397_Phe2398delinsLysIle", "hgvsWellDefined": "XP_006721990.1:p.Asn2397_Phe2398delinsLysIle" }, "referenceSequence": "http://reg.genome.network/refseq/RS074323" }, { "coordinates": [ { "allele": "AA", "end": 7522, "referenceAllele": "CT", "start": 7520 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "XM_011524852.1:c.7188_7189delinsAA" ], "proteinEffect": { "hgvs": "XP_011523154.1:p.Asn2396_Phe2397delinsLysIle", "hgvsWellDefined": "XP_011523154.1:p.Asn2396_Phe2397delinsLysIle" }, "referenceSequence": "http://reg.genome.network/refseq/RS091972" }, { "coordinates": [ { "allele": "AA", "end": 8983, "referenceAllele": "CT", "start": 8981 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "XM_011524853.1:c.7152_7153delinsAA" ], "proteinEffect": { "hgvs": "XP_011523155.1:p.Asn2384_Phe2385delinsLysIle", "hgvsWellDefined": "XP_011523155.1:p.Asn2384_Phe2385delinsLysIle" }, "referenceSequence": "http://reg.genome.network/refseq/RS091973" }, { "coordinates": [ { "allele": "AA", "end": 8018, "referenceAllele": "CT", "start": 8016 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "XM_011524854.1:c.7152_7153delinsAA" ], "proteinEffect": { "hgvs": "XP_011523156.1:p.Asn2384_Phe2385delinsLysIle", "hgvsWellDefined": "XP_011523156.1:p.Asn2384_Phe2385delinsLysIle" }, "referenceSequence": "http://reg.genome.network/refseq/RS091974" }, { "coordinates": [ { "allele": "AA", "end": 8050, "referenceAllele": "CT", "start": 8048 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "XM_011524855.1:c.7152_7153delinsAA" ], "proteinEffect": { "hgvs": "XP_011523157.1:p.Asn2384_Phe2385delinsLysIle", "hgvsWellDefined": "XP_011523157.1:p.Asn2384_Phe2385delinsLysIle" }, "referenceSequence": "http://reg.genome.network/refseq/RS091975" }, { "coordinates": [ { "allele": "AA", "end": 8728, "referenceAllele": "CT", "start": 8726 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "XM_011524856.1:c.7152_7153delinsAA" ], "proteinEffect": { "hgvs": "XP_011523158.1:p.Asn2384_Phe2385delinsLysIle", "hgvsWellDefined": "XP_011523158.1:p.Asn2384_Phe2385delinsLysIle" }, "referenceSequence": "http://reg.genome.network/refseq/RS091976" }, { "coordinates": [ { "allele": "AA", "end": 7525, "referenceAllele": "CT", "start": 7523 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "XM_011524857.1:c.7191_7192delinsAA" ], "proteinEffect": { "hgvs": "XP_011523159.1:p.Asn2397_Phe2398delinsLysIle", "hgvsWellDefined": "XP_011523159.1:p.Asn2397_Phe2398delinsLysIle" }, "referenceSequence": "http://reg.genome.network/refseq/RS091977" }, { "@id": "http://reg.genome.network/allele/PA3249404424", "coordinates": [ { "allele": "AA", "end": 7495, "referenceAllele": "CT", "start": 7493 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "NM_001042492.3:c.7161_7162delinsAA" ], "proteinEffect": { "hgvs": "NP_001035957.1:p.Asn2387_Phe2388delinsLysIle", "hgvsWellDefined": "NP_001035957.1:p.Asn2387_Phe2388delinsLysIle" }, "referenceSequence": "http://reg.genome.network/refseq/RS676037", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000358273.9:c.7161_7162delinsAA" }, "RefSeq": { "hgvs": "NM_001042492.3:c.7161_7162delinsAA" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000351015.4:p.Asn2387_Phe2388delinsLysIle" }, "RefSeq": { "hgvs": "NP_001035957.1:p.Asn2387_Phe2388delinsLysIle" } } } } ], "type": "nucleotide" }