{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA16043808", "communityStandardTitle": [ "NM_001244008.2(KIF1A):c.1529del (p.Pro510ArgfsTer2)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=361483[alleleid]", "alleleId": 361483, "preferredName": "NM_001244008.2(KIF1A):c.1529del (p.Pro510fs)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/374597", "RCV": [ "RCV000416001" ], "variationId": 374597 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.241706731del?assembly=hg19", "id": "chr2:g.241706731del" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.240767314del?assembly=hg38", "id": "chr2:g.240767314del" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1057519164", "rs": 1057519164 } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "", "end": 240767316, "referenceAllele": "G", "start": 240767315 } ], "hgvs": [ "NC_000002.12:g.240767316del", "CM000664.2:g.240767316del" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "", "end": 241706733, "referenceAllele": "G", "start": 241706732 } ], "hgvs": [ "NC_000002.11:g.241706733del", "CM000664.1:g.241706733del" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "", "end": 241355406, "referenceAllele": "G", "start": 241355405 } ], "hgvs": [ "NC_000002.10:g.241355406del" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "", "end": 57894, "referenceAllele": "C", "start": 57893 } ], "hgvs": [ "NG_029724.1:g.57894del" ], "referenceSequence": "http://reg.genome.network/refseq/RS004610" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "", "end": 1660, "referenceAllele": "C", "start": 1659 } ], "gene": "http://reg.genome.network/gene/GN000888", "geneNCBI_id": 547, "geneSymbol": "KIF1A", "hgvs": [ "ENST00000320389.12:c.1502del" ], "proteinEffect": { "hgvs": "ENSP00000322791.8:p.Pro501ArgfsTer2" }, "referenceSequence": "http://reg.genome.network/refseq/RS746347" }, { "coordinates": [ { "allele": "", "end": 1776, "referenceAllele": "C", "start": 1775 } ], "gene": "http://reg.genome.network/gene/GN000888", "geneNCBI_id": 547, "geneSymbol": "KIF1A", "hgvs": [ "ENST00000404283.9:c.1529del" ], "proteinEffect": { "hgvs": "ENSP00000384231.5:p.Pro510ArgfsTer2" }, "referenceSequence": "http://reg.genome.network/refseq/RS754084" }, { "coordinates": [ { "allele": "", "end": 1687, "referenceAllele": "C", "start": 1686 } ], "gene": "http://reg.genome.network/gene/GN000888", "geneNCBI_id": 547, "geneSymbol": "KIF1A", "hgvs": [ "ENST00000498729.9:c.1529del" ], "proteinEffect": { "hgvs": "ENSP00000438388.1:p.Pro510ArgfsTer2" }, "referenceSequence": "http://reg.genome.network/refseq/RS757911", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000498729.9:c.1529del" }, "RefSeq": { "hgvs": "NM_001244008.2:c.1529del" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000438388.1:p.Pro510ArgfsTer2" }, "RefSeq": { "hgvs": "NP_001230937.1:p.Pro510ArgfsTer2" } } } }, { "coordinates": [ { "allele": "", "end": 1652, "referenceAllele": "C", "start": 1651 } ], "gene": "http://reg.genome.network/gene/GN000888", "geneNCBI_id": 547, "geneSymbol": "KIF1A", "hgvs": [ "ENST00000647731.1:c.1502del" ], "proteinEffect": { "hgvs": "ENSP00000498099.1:p.Pro501ArgfsTer2" }, "referenceSequence": "http://reg.genome.network/refseq/RS769581" }, { "coordinates": [ { "allele": "", "end": 1660, "referenceAllele": "C", "start": 1659 } ], "gene": "http://reg.genome.network/gene/GN000888", "geneNCBI_id": 547, "geneSymbol": "KIF1A", "hgvs": [ "ENST00000647885.1:c.1502del" ], "proteinEffect": { "hgvs": "ENSP00000497739.1:p.Pro501ArgfsTer2" }, "referenceSequence": "http://reg.genome.network/refseq/RS769669" }, { "coordinates": [ { "allele": "", "end": 740, "referenceAllele": "C", "start": 739 } ], "gene": "http://reg.genome.network/gene/GN000888", "geneNCBI_id": 547, "geneSymbol": "KIF1A", "hgvs": [ "ENST00000648047.1:c.740del" ], "proteinEffect": { "hgvs": "ENSP00000497935.1:p.Pro247ArgfsTer2" }, "referenceSequence": "http://reg.genome.network/refseq/RS769759" }, { "coordinates": [ { "allele": "", "end": 1653, "referenceAllele": "C", "start": 1652 } ], "gene": "http://reg.genome.network/gene/GN000888", "geneNCBI_id": 547, "geneSymbol": "KIF1A", "hgvs": [ "ENST00000648129.1:c.1502del" ], "proteinEffect": { "hgvs": "ENSP00000497293.1:p.Pro501ArgfsTer2" }, "referenceSequence": "http://reg.genome.network/refseq/RS769807" }, { "coordinates": [ { "allele": "", "end": 1687, "referenceAllele": "C", "start": 1686 } ], "gene": "http://reg.genome.network/gene/GN000888", "geneNCBI_id": 547, "geneSymbol": "KIF1A", "hgvs": [ "ENST00000648364.1:c.1529del" ], "proteinEffect": { "hgvs": "ENSP00000498196.1:p.Pro510ArgfsTer2" }, "referenceSequence": "http://reg.genome.network/refseq/RS769935" }, { "coordinates": [ { "allele": "", "end": 1680, "referenceAllele": "C", "start": 1679 } ], "gene": "http://reg.genome.network/gene/GN000888", "geneNCBI_id": 547, "geneSymbol": "KIF1A", "hgvs": [ "ENST00000648680.1:c.1529del" ], "proteinEffect": { "hgvs": "ENSP00000497586.1:p.Pro510ArgfsTer2" }, "referenceSequence": "http://reg.genome.network/refseq/RS770112" }, { "coordinates": [ { "allele": "", "end": 1660, "referenceAllele": "C", "start": 1659 } ], "gene": "http://reg.genome.network/gene/GN000888", "geneNCBI_id": 547, "geneSymbol": "KIF1A", "hgvs": [ "ENST00000649064.1:n.1660del" ], "referenceSequence": "http://reg.genome.network/refseq/RS770327" }, { "coordinates": [ { "allele": "", "end": 1813, "referenceAllele": "C", "start": 1812 } ], "gene": "http://reg.genome.network/gene/GN000888", "geneNCBI_id": 547, "geneSymbol": "KIF1A", "hgvs": [ "ENST00000649096.1:c.1502del" ], "proteinEffect": { "hgvs": "ENSP00000497030.1:p.Pro501ArgfsTer2" }, "referenceSequence": "http://reg.genome.network/refseq/RS770344" }, { "coordinates": [ { "allele": "", "end": 799, "referenceAllele": "C", "start": 798 } ], "gene": "http://reg.genome.network/gene/GN000888", "geneNCBI_id": 547, "geneSymbol": "KIF1A", "hgvs": [ "ENST00000649190.1:n.799del" ], "referenceSequence": "http://reg.genome.network/refseq/RS770397" }, { "coordinates": [ { "allele": "", "end": 1755, "referenceAllele": "C", "start": 1754 } ], "gene": "http://reg.genome.network/gene/GN000888", "geneNCBI_id": 547, "geneSymbol": "KIF1A", "hgvs": [ "ENST00000649306.1:c.1604del" ], "proteinEffect": { "hgvs": "ENSP00000497678.1:p.Pro535ArgfsTer2" }, "referenceSequence": "http://reg.genome.network/refseq/RS770466" }, { "coordinates": [ { "allele": "", "end": 1755, "referenceAllele": "C", "start": 1754 } ], "gene": "http://reg.genome.network/gene/GN000888", "geneNCBI_id": 547, "geneSymbol": "KIF1A", "hgvs": [ "ENST00000649381.1:n.1755del" ], "referenceSequence": "http://reg.genome.network/refseq/RS770506" }, { "coordinates": [ { "allele": "", "end": 1672, "referenceAllele": "C", "start": 1671 } ], "gene": "http://reg.genome.network/gene/GN000888", "geneNCBI_id": 547, "geneSymbol": "KIF1A", "hgvs": [ "ENST00000650053.1:c.1502del" ], "proteinEffect": { "hgvs": "ENSP00000497824.1:p.Pro501ArgfsTer2" }, "referenceSequence": "http://reg.genome.network/refseq/RS770909" }, { "coordinates": [ { "allele": "", "end": 1683, "referenceAllele": "C", "start": 1682 } ], "gene": "http://reg.genome.network/gene/GN000888", "geneNCBI_id": 547, "geneSymbol": "KIF1A", "hgvs": [ "ENST00000650130.1:c.1502del" ], "proteinEffect": { "hgvs": "ENSP00000498082.1:p.Pro501ArgfsTer2" }, "referenceSequence": "http://reg.genome.network/refseq/RS770954" }, { "coordinates": [ { "allele": "", "end": 877, "referenceAllele": "C", "start": 876 } ], "gene": "http://reg.genome.network/gene/GN000888", "geneNCBI_id": 547, "geneSymbol": "KIF1A", "hgvs": [ "ENST00000650430.1:n.877del" ], "referenceSequence": "http://reg.genome.network/refseq/RS771113" }, { "coordinates": [ { "allele": "", "end": 1661, "referenceAllele": "C", "start": 1660 } ], "gene": "http://reg.genome.network/gene/GN000888", "geneNCBI_id": 547, "geneSymbol": "KIF1A", "hgvs": [ "ENST00000320389.11:c.1502del" ], "proteinEffect": { "hgvs": "ENSP00000322791.7:p.Pro501ArgfsTer2" }, "referenceSequence": "http://reg.genome.network/refseq/RS257798" }, { "coordinates": [ { "allele": "", "end": 1529, "referenceAllele": "C", "start": 1528 } ], "gene": "http://reg.genome.network/gene/GN000888", "geneNCBI_id": 547, "geneSymbol": "KIF1A", "hgvs": [ "ENST00000404283.7:c.1529del" ], "proteinEffect": { "hgvs": "ENSP00000384231.3:p.Pro510ArgfsTer2", "hgvsWellDefined": "ENSP00000384231.3:p.[Pro510_Thr525del;Val527_Val539del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS280034" }, { "coordinates": [ { "allele": "", "end": 1776, "referenceAllele": "C", "start": 1775 } ], "gene": "http://reg.genome.network/gene/GN000888", "geneNCBI_id": 547, "geneSymbol": "KIF1A", "hgvs": [ "ENST00000498729.6:c.1529del" ], "proteinEffect": { "hgvs": "ENSP00000438388.1:p.Pro510ArgfsTer2" }, "referenceSequence": "http://reg.genome.network/refseq/RS334673" }, { "coordinates": [ { "allele": "", "end": 1776, "referenceAllele": "C", "start": 1775 } ], "gene": "http://reg.genome.network/gene/GN000888", "geneNCBI_id": 547, "geneSymbol": "KIF1A", "hgvs": [ "NM_001244008.1:c.1529del" ], "proteinEffect": { "hgvs": "NP_001230937.1:p.Pro510ArgfsTer2" }, "referenceSequence": "http://reg.genome.network/refseq/RS018662" }, { "coordinates": [ { "allele": "", "end": 1562, "referenceAllele": "C", "start": 1561 } ], "gene": "http://reg.genome.network/gene/GN000888", "geneNCBI_id": 547, "geneSymbol": "KIF1A", "hgvs": [ "NM_004321.6:c.1502del" ], "proteinEffect": { "hgvs": "NP_004312.2:p.Pro501ArgfsTer2" }, "referenceSequence": "http://reg.genome.network/refseq/RS029491" }, { "coordinates": [ { "allele": "", "end": 1687, "referenceAllele": "C", "start": 1686 } ], "gene": "http://reg.genome.network/gene/GN000888", "geneNCBI_id": 547, "geneSymbol": "KIF1A", "hgvs": [ "XM_005247022.1:c.1529del" ], "proteinEffect": { "hgvs": "XP_005247079.1:p.Pro510ArgfsTer2" }, "referenceSequence": "http://reg.genome.network/refseq/RS057887" }, { "coordinates": [ { "allele": "", "end": 1687, "referenceAllele": "C", "start": 1686 } ], "gene": "http://reg.genome.network/gene/GN000888", "geneNCBI_id": 547, "geneSymbol": "KIF1A", "hgvs": [ "XM_005247023.1:c.1529del" ], "proteinEffect": { "hgvs": "XP_005247080.1:p.Pro510ArgfsTer2" }, "referenceSequence": "http://reg.genome.network/refseq/RS057888" }, { "coordinates": [ { "allele": "", "end": 1660, "referenceAllele": "C", "start": 1659 } ], "gene": "http://reg.genome.network/gene/GN000888", "geneNCBI_id": 547, "geneSymbol": "KIF1A", "hgvs": [ "XM_005247024.1:c.1502del" ], "proteinEffect": { "hgvs": "XP_005247081.1:p.Pro501ArgfsTer2" }, "referenceSequence": "http://reg.genome.network/refseq/RS057889" }, { "coordinates": [ { "allele": "", "end": 1687, "referenceAllele": "C", "start": 1686 } ], "gene": "http://reg.genome.network/gene/GN000888", "geneNCBI_id": 547, "geneSymbol": "KIF1A", "hgvs": [ "XM_005247026.1:c.1529del" ], "proteinEffect": { "hgvs": "XP_005247083.1:p.Pro510ArgfsTer2" }, "referenceSequence": "http://reg.genome.network/refseq/RS057890" }, { "coordinates": [ { "allele": "", "end": 1660, "referenceAllele": "C", "start": 1659 } ], "gene": "http://reg.genome.network/gene/GN000888", "geneNCBI_id": 547, "geneSymbol": "KIF1A", "hgvs": [ "XM_005247027.1:c.1502del" ], "proteinEffect": { "hgvs": "XP_005247084.1:p.Pro501ArgfsTer2" }, "referenceSequence": "http://reg.genome.network/refseq/RS057891" }, { "coordinates": [ { "allele": "", "end": 1660, "referenceAllele": "C", "start": 1659 } ], "gene": "http://reg.genome.network/gene/GN000888", "geneNCBI_id": 547, "geneSymbol": "KIF1A", "hgvs": [ "XM_005247028.1:c.1502del" ], "proteinEffect": { "hgvs": "XP_005247085.1:p.Pro501ArgfsTer2" }, "referenceSequence": "http://reg.genome.network/refseq/RS057892" }, { "coordinates": [ { "allele": "", "end": 1660, "referenceAllele": "C", "start": 1659 } ], "gene": "http://reg.genome.network/gene/GN000888", "geneNCBI_id": 547, "geneSymbol": "KIF1A", "hgvs": [ "XM_006712605.1:c.1502del" ], "proteinEffect": { "hgvs": "XP_006712668.1:p.Pro501ArgfsTer2" }, "referenceSequence": "http://reg.genome.network/refseq/RS069724" }, { "coordinates": [ { "allele": "", "end": 1699, "referenceAllele": "C", "start": 1698 } ], "gene": "http://reg.genome.network/gene/GN000888", "geneNCBI_id": 547, "geneSymbol": "KIF1A", "hgvs": [ "XM_011511364.1:c.1529del" ], "proteinEffect": { "hgvs": "XP_011509666.1:p.Pro510ArgfsTer2" }, "referenceSequence": "http://reg.genome.network/refseq/RS078625" }, { "coordinates": [ { "allele": "", "end": 1687, "referenceAllele": "C", "start": 1686 } ], "gene": "http://reg.genome.network/gene/GN000888", "geneNCBI_id": 547, "geneSymbol": "KIF1A", "hgvs": [ "XM_011511365.1:c.1529del" ], "proteinEffect": { "hgvs": "XP_011509667.1:p.Pro510ArgfsTer2" }, "referenceSequence": "http://reg.genome.network/refseq/RS078626" }, { "coordinates": [ { "allele": "", "end": 866, "referenceAllele": "C", "start": 865 } ], "gene": "http://reg.genome.network/gene/GN000888", "geneNCBI_id": 547, "geneSymbol": "KIF1A", "hgvs": [ "XM_011511366.1:c.524del" ], "proteinEffect": { "hgvs": "XP_011509668.1:p.Pro175ArgfsTer2" }, "referenceSequence": "http://reg.genome.network/refseq/RS078627" }, { "coordinates": [ { "allele": "", "end": 689, "referenceAllele": "C", "start": 688 } ], "gene": "http://reg.genome.network/gene/GN000888", "geneNCBI_id": 547, "geneSymbol": "KIF1A", "hgvs": [ "XM_011511367.1:c.524del" ], "proteinEffect": { "hgvs": "XP_011509669.1:p.Pro175ArgfsTer2" }, "referenceSequence": "http://reg.genome.network/refseq/RS078628" }, { "coordinates": [ { "allele": "", "end": 1776, "referenceAllele": "C", "start": 1775 } ], "gene": "http://reg.genome.network/gene/GN000888", "geneNCBI_id": 547, "geneSymbol": "KIF1A", "hgvs": [ "NM_001320705.1:c.1529del" ], "proteinEffect": { "hgvs": "NP_001307634.1:p.Pro510ArgfsTer2" }, "referenceSequence": "http://reg.genome.network/refseq/RS513748" }, { "coordinates": [ { "allele": "", "end": 1776, "referenceAllele": "C", "start": 1775 } ], "gene": "http://reg.genome.network/gene/GN000888", "geneNCBI_id": 547, "geneSymbol": "KIF1A", "hgvs": [ "NM_001330289.1:c.1529del" ], "proteinEffect": { "hgvs": "NP_001317218.1:p.Pro510ArgfsTer2" }, "referenceSequence": "http://reg.genome.network/refseq/RS516684" }, { "coordinates": [ { "allele": "", "end": 1851, "referenceAllele": "C", "start": 1850 } ], "gene": "http://reg.genome.network/gene/GN000888", "geneNCBI_id": 547, "geneSymbol": "KIF1A", "hgvs": [ "NM_001330290.1:c.1604del" ], "proteinEffect": { "hgvs": "NP_001317219.1:p.Pro535ArgfsTer2" }, "referenceSequence": "http://reg.genome.network/refseq/RS516685" }, { "coordinates": [ { "allele": "", "end": 1749, "referenceAllele": "C", "start": 1748 } ], "gene": "http://reg.genome.network/gene/GN000888", "geneNCBI_id": 547, "geneSymbol": "KIF1A", "hgvs": [ "NM_004321.7:c.1502del" ], "proteinEffect": { "hgvs": "NP_004312.2:p.Pro501ArgfsTer2" }, "referenceSequence": "http://reg.genome.network/refseq/RS525197" }, { "coordinates": [ { "allele": "", "end": 1687, "referenceAllele": "C", "start": 1686 } ], "gene": "http://reg.genome.network/gene/GN000888", "geneNCBI_id": 547, "geneSymbol": "KIF1A", "hgvs": [ "NM_001320705.2:c.1529del" ], "proteinEffect": { "hgvs": "NP_001307634.1:p.Pro510ArgfsTer2" }, "referenceSequence": "http://reg.genome.network/refseq/RS685011" }, { "coordinates": [ { "allele": "", "end": 1687, "referenceAllele": "C", "start": 1686 } ], "gene": "http://reg.genome.network/gene/GN000888", "geneNCBI_id": 547, "geneSymbol": "KIF1A", "hgvs": [ "NM_001330289.2:c.1529del" ], "proteinEffect": { "hgvs": "NP_001317218.1:p.Pro510ArgfsTer2" }, "referenceSequence": "http://reg.genome.network/refseq/RS686853" }, { "coordinates": [ { "allele": "", "end": 1762, "referenceAllele": "C", "start": 1761 } ], "gene": "http://reg.genome.network/gene/GN000888", "geneNCBI_id": 547, "geneSymbol": "KIF1A", "hgvs": [ "NM_001330290.2:c.1604del" ], "proteinEffect": { "hgvs": "NP_001317219.1:p.Pro535ArgfsTer2" }, "referenceSequence": "http://reg.genome.network/refseq/RS686854" }, { "coordinates": [ { "allele": "", "end": 1687, "referenceAllele": "C", "start": 1686 } ], "gene": "http://reg.genome.network/gene/GN000888", "geneNCBI_id": 547, "geneSymbol": "KIF1A", "hgvs": [ "NM_001244008.2:c.1529del" ], "proteinEffect": { "hgvs": "NP_001230937.1:p.Pro510ArgfsTer2" }, "referenceSequence": "http://reg.genome.network/refseq/RS714545", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000498729.9:c.1529del" }, "RefSeq": { "hgvs": "NM_001244008.2:c.1529del" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000438388.1:p.Pro510ArgfsTer2" }, "RefSeq": { "hgvs": "NP_001230937.1:p.Pro510ArgfsTer2" } } } }, { "coordinates": [ { "allele": "", "end": 1762, "referenceAllele": "C", "start": 1761 } ], "gene": "http://reg.genome.network/gene/GN000888", "geneNCBI_id": 547, "geneSymbol": "KIF1A", "hgvs": [ "NM_001379631.1:c.1604del" ], "proteinEffect": { "hgvs": "NP_001366560.1:p.Pro535ArgfsTer2" }, "referenceSequence": "http://reg.genome.network/refseq/RS722045" }, { "coordinates": [ { "allele": "", "end": 1660, "referenceAllele": "C", "start": 1659 } ], "gene": "http://reg.genome.network/gene/GN000888", "geneNCBI_id": 547, "geneSymbol": "KIF1A", "hgvs": [ "NM_001379632.1:c.1502del" ], "proteinEffect": { "hgvs": "NP_001366561.1:p.Pro501ArgfsTer2" }, "referenceSequence": "http://reg.genome.network/refseq/RS722046" }, { "coordinates": [ { "allele": "", "end": 1660, "referenceAllele": "C", "start": 1659 } ], "gene": "http://reg.genome.network/gene/GN000888", "geneNCBI_id": 547, "geneSymbol": "KIF1A", "hgvs": [ "NM_001379633.1:c.1502del" ], "proteinEffect": { "hgvs": "NP_001366562.1:p.Pro501ArgfsTer2" }, "referenceSequence": "http://reg.genome.network/refseq/RS722047" }, { "coordinates": [ { "allele": "", "end": 1762, "referenceAllele": "C", "start": 1761 } ], "gene": "http://reg.genome.network/gene/GN000888", "geneNCBI_id": 547, "geneSymbol": "KIF1A", "hgvs": [ "NM_001379634.1:c.1604del" ], "proteinEffect": { "hgvs": "NP_001366563.1:p.Pro535ArgfsTer2" }, "referenceSequence": "http://reg.genome.network/refseq/RS722048" }, { "coordinates": [ { "allele": "", "end": 1788, "referenceAllele": "C", "start": 1787 } ], "gene": "http://reg.genome.network/gene/GN000888", "geneNCBI_id": 547, "geneSymbol": "KIF1A", "hgvs": [ "NM_001379635.1:c.1604del" ], "proteinEffect": { "hgvs": "NP_001366564.1:p.Pro535ArgfsTer2" }, "referenceSequence": "http://reg.genome.network/refseq/RS722049" }, { "coordinates": [ { "allele": "", "end": 1660, "referenceAllele": "C", "start": 1659 } ], "gene": "http://reg.genome.network/gene/GN000888", "geneNCBI_id": 547, "geneSymbol": "KIF1A", "hgvs": [ "NM_001379636.1:c.1502del" ], "proteinEffect": { "hgvs": "NP_001366565.1:p.Pro501ArgfsTer2" }, "referenceSequence": "http://reg.genome.network/refseq/RS722050" }, { "coordinates": [ { "allele": "", "end": 1735, "referenceAllele": "C", "start": 1734 } ], "gene": "http://reg.genome.network/gene/GN000888", "geneNCBI_id": 547, "geneSymbol": "KIF1A", "hgvs": [ "NM_001379637.1:c.1577del" ], "proteinEffect": { "hgvs": "NP_001366566.1:p.Pro526ArgfsTer2" }, "referenceSequence": "http://reg.genome.network/refseq/RS722051" }, { "coordinates": [ { "allele": "", "end": 1687, "referenceAllele": "C", "start": 1686 } ], "gene": "http://reg.genome.network/gene/GN000888", "geneNCBI_id": 547, "geneSymbol": "KIF1A", "hgvs": [ "NM_001379638.1:c.1529del" ], "proteinEffect": { "hgvs": "NP_001366567.1:p.Pro510ArgfsTer2" }, "referenceSequence": "http://reg.genome.network/refseq/RS722052" }, { "coordinates": [ { "allele": "", "end": 1660, "referenceAllele": "C", "start": 1659 } ], "gene": "http://reg.genome.network/gene/GN000888", "geneNCBI_id": 547, "geneSymbol": "KIF1A", "hgvs": [ "NM_001379639.1:c.1502del" ], "proteinEffect": { "hgvs": "NP_001366568.1:p.Pro501ArgfsTer2" }, "referenceSequence": "http://reg.genome.network/refseq/RS722053" }, { "coordinates": [ { "allele": "", "end": 1660, "referenceAllele": "C", "start": 1659 } ], "gene": "http://reg.genome.network/gene/GN000888", "geneNCBI_id": 547, "geneSymbol": "KIF1A", "hgvs": [ "NM_001379640.1:c.1502del" ], "proteinEffect": { "hgvs": "NP_001366569.1:p.Pro501ArgfsTer2" }, "referenceSequence": "http://reg.genome.network/refseq/RS722054" }, { "coordinates": [ { "allele": "", "end": 1660, "referenceAllele": "C", "start": 1659 } ], "gene": "http://reg.genome.network/gene/GN000888", "geneNCBI_id": 547, "geneSymbol": "KIF1A", "hgvs": [ "NM_001379641.1:c.1502del" ], "proteinEffect": { "hgvs": "NP_001366570.1:p.Pro501ArgfsTer2" }, "referenceSequence": "http://reg.genome.network/refseq/RS722055" }, { "coordinates": [ { "allele": "", "end": 1660, "referenceAllele": "C", "start": 1659 } ], "gene": "http://reg.genome.network/gene/GN000888", "geneNCBI_id": 547, "geneSymbol": "KIF1A", "hgvs": [ "NM_001379642.1:c.1502del" ], "proteinEffect": { "hgvs": "NP_001366571.1:p.Pro501ArgfsTer2" }, "referenceSequence": "http://reg.genome.network/refseq/RS722056" }, { "coordinates": [ { "allele": "", "end": 1686, "referenceAllele": "C", "start": 1685 } ], "gene": "http://reg.genome.network/gene/GN000888", "geneNCBI_id": 547, "geneSymbol": "KIF1A", "hgvs": [ "NM_001379645.1:c.1502del" ], "proteinEffect": { "hgvs": "NP_001366574.1:p.Pro501ArgfsTer2" }, "referenceSequence": "http://reg.genome.network/refseq/RS722057" }, { "coordinates": [ { "allele": "", "end": 1762, "referenceAllele": "C", "start": 1761 } ], "gene": "http://reg.genome.network/gene/GN000888", "geneNCBI_id": 547, "geneSymbol": "KIF1A", "hgvs": [ "NM_001379646.1:c.1604del" ], "proteinEffect": { "hgvs": "NP_001366575.1:p.Pro535ArgfsTer2" }, "referenceSequence": "http://reg.genome.network/refseq/RS722058" }, { "coordinates": [ { "allele": "", "end": 1735, "referenceAllele": "C", "start": 1734 } ], "gene": "http://reg.genome.network/gene/GN000888", "geneNCBI_id": 547, "geneSymbol": "KIF1A", "hgvs": [ "NM_001379648.1:c.1577del" ], "proteinEffect": { "hgvs": "NP_001366577.1:p.Pro526ArgfsTer2" }, "referenceSequence": "http://reg.genome.network/refseq/RS722059" }, { "coordinates": [ { "allele": "", "end": 1660, "referenceAllele": "C", "start": 1659 } ], "gene": "http://reg.genome.network/gene/GN000888", "geneNCBI_id": 547, "geneSymbol": "KIF1A", "hgvs": [ "NM_001379649.1:c.1502del" ], "proteinEffect": { "hgvs": "NP_001366578.1:p.Pro501ArgfsTer2" }, "referenceSequence": "http://reg.genome.network/refseq/RS722060" }, { "coordinates": [ { "allele": "", "end": 1686, "referenceAllele": "C", "start": 1685 } ], "gene": "http://reg.genome.network/gene/GN000888", "geneNCBI_id": 547, "geneSymbol": "KIF1A", "hgvs": [ "NM_001379650.1:c.1502del" ], "proteinEffect": { "hgvs": "NP_001366579.1:p.Pro501ArgfsTer2" }, "referenceSequence": "http://reg.genome.network/refseq/RS722061" }, { "coordinates": [ { "allele": "", "end": 1734, "referenceAllele": "C", "start": 1733 } ], "gene": "http://reg.genome.network/gene/GN000888", "geneNCBI_id": 547, "geneSymbol": "KIF1A", "hgvs": [ "NM_001379651.1:c.1502del" ], "proteinEffect": { "hgvs": "NP_001366580.1:p.Pro501ArgfsTer2" }, "referenceSequence": "http://reg.genome.network/refseq/RS722062" }, { "coordinates": [ { "allele": "", "end": 1626, "referenceAllele": "C", "start": 1625 } ], "gene": "http://reg.genome.network/gene/GN000888", "geneNCBI_id": 547, "geneSymbol": "KIF1A", "hgvs": [ "NM_001379653.1:c.1502del" ], "proteinEffect": { "hgvs": "NP_001366582.1:p.Pro501ArgfsTer2" }, "referenceSequence": "http://reg.genome.network/refseq/RS722063" }, { "coordinates": [ { "allele": "", "end": 1660, "referenceAllele": "C", "start": 1659 } ], "gene": "http://reg.genome.network/gene/GN000888", "geneNCBI_id": 547, "geneSymbol": "KIF1A", "hgvs": [ "NM_004321.8:c.1502del" ], "proteinEffect": { "hgvs": "NP_004312.2:p.Pro501ArgfsTer2" }, "referenceSequence": "http://reg.genome.network/refseq/RS727492" } ], "type": "nucleotide" }