{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA1725828607", "communityStandardTitle": [ "NM_194454.3(KRIT1):c.1731-2A=" ], "externalRecords": { "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/886039571", "rs": 886039571 } ] }, "genomicAlleles": [ { "chromosome": "7", "coordinates": [ { "allele": "T", "end": 92213981, "referenceAllele": "T", "start": 92213980 } ], "hgvs": [ "NC_000007.14:g.92213981T=", "CM000669.2:g.92213981T=" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000055" }, { "chromosome": "7", "coordinates": [ { "allele": "T", "end": 91843295, "referenceAllele": "T", "start": 91843294 } ], "hgvs": [ "NC_000007.13:g.91843295T=", "CM000669.1:g.91843295T=" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000031" }, { "chromosome": "7", "coordinates": [ { "allele": "T", "end": 91681231, "referenceAllele": "T", "start": 91681230 } ], "hgvs": [ "NC_000007.12:g.91681231T=" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000007" }, { "coordinates": [ { "allele": "A", "end": 37120, "referenceAllele": "A", "start": 37119 } ], "hgvs": [ "NG_012964.1:g.37120A=", "LRG_650:g.37120A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS002634" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 4891, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 4891, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000425073.2:c.1731-2A=" ], "proteinEffect": { "hgvs": "ENSP00000404790.2:n.1731-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS824766" }, { "coordinates": [ { "allele": "A", "end": 2748, "endIntronDirection": "+", "endIntronOffset": 7921, "referenceAllele": "A", "start": 2748, "startIntronDirection": "+", "startIntronOffset": 7920 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000433016.6:c.*127+7921A=" ], "proteinEffect": { "hgvs": "ENSP00000410104.2:n.*127+7921A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS824846" }, { "coordinates": [ { "allele": "A", "end": 2231, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2231, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000444960.6:c.1731-2A=" ], "proteinEffect": { "hgvs": "ENSP00000388076.2:n.1731-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS824957" }, { "coordinates": [ { "allele": "A", "end": 1950, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1950, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000445516.2:c.*77-2A=" ], "proteinEffect": { "hgvs": "ENSP00000404084.2:n.*77-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS824964" }, { "coordinates": [ { "allele": "A", "end": 2102, "endIntronDirection": "+", "endIntronOffset": 7921, "referenceAllele": "A", "start": 2102, "startIntronDirection": "+", "startIntronOffset": 7920 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000454017.6:c.1563+7921A=" ], "proteinEffect": { "hgvs": "ENSP00000405835.2:n.1563+7921A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS825048" }, { "coordinates": [ { "allele": "A", "end": 2411, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2411, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000458177.7:c.1731-2A=" ], "proteinEffect": { "hgvs": "ENSP00000391675.2:n.1731-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS825091" }, { "coordinates": [ { "allele": "A", "end": 2040, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2040, "startIntronDirection": "-", "startIntronOffset": 2 } ], "hgvs": [ "ENST00000458493.6:c.1731-2A=" ], "proteinEffect": { "hgvs": "ENSP00000396352.2:n.1731-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS825095" }, { "coordinates": [ { "allele": "A", "end": 2176, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2176, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000475770.6:n.2177-2A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS825265" }, { "coordinates": [ { "allele": "A", "end": 2232, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2232, "startIntronDirection": "-", "startIntronOffset": 2 } ], "hgvs": [ "ENST00000650585.2:c.1731-2A=" ], "proteinEffect": { "hgvs": "ENSP00000498010.2:n.1731-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS826807" }, { "coordinates": [ { "allele": "A", "end": 2080, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2080, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000684808.1:c.*1238-2A=" ], "proteinEffect": { "hgvs": "ENSP00000508621.1:n.*1238-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS829744" }, { "coordinates": [ { "allele": "A", "end": 2076, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2076, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000685431.1:c.1587-2A=" ], "proteinEffect": { "hgvs": "ENSP00000509995.1:n.1587-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS830070" }, { "coordinates": [ { "allele": "A", "end": 2089, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2089, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000686043.1:c.*994-2A=" ], "proteinEffect": { "hgvs": "ENSP00000510108.1:n.*994-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS830373" }, { "coordinates": [ { "allele": "A", "end": 2038, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2038, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000686094.1:c.1731-2A=" ], "proteinEffect": { "hgvs": "ENSP00000510015.1:n.1731-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS830397" }, { "coordinates": [ { "allele": "A", "end": 3209, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 3209, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000686149.1:n.3210-2A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS830422" }, { "coordinates": [ { "allele": "A", "end": 2118, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2118, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000686233.1:n.2119-2A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS830468" }, { "coordinates": [ { "allele": "A", "end": 2079, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2079, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000686527.1:c.1731-2A=" ], "proteinEffect": { "hgvs": "ENSP00000509139.1:n.1731-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS830615" }, { "coordinates": [ { "allele": "A", "end": 2960, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2960, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000686619.1:c.*1240-2A=" ], "proteinEffect": { "hgvs": "ENSP00000509512.1:n.*1240-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS830662" }, { "coordinates": [ { "allele": "A", "end": 1820, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1820, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000686785.1:c.*920-2A=" ], "proteinEffect": { "hgvs": "ENSP00000508596.1:n.*920-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS830741" }, { "coordinates": [ { "allele": "A", "end": 2335, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2335, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000687135.1:c.1731-2A=" ], "proteinEffect": { "hgvs": "ENSP00000509617.1:n.1731-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS830925" }, { "coordinates": [ { "allele": "A", "end": 2220, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2220, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000687627.1:n.2221-2A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS831182" }, { "coordinates": [ { "allele": "A", "end": 2614, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2614, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000687876.1:c.*1238-2A=" ], "proteinEffect": { "hgvs": "ENSP00000509086.1:n.*1238-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS831306" }, { "coordinates": [ { "allele": "A", "end": 781, "referenceAllele": "A", "start": 780 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000688180.1:n.781A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS831481" }, { "coordinates": [ { "allele": "A", "end": 2090, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2090, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000688196.1:n.2091-2A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS831492" }, { "coordinates": [ { "allele": "A", "end": 2282, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2282, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000688314.1:c.*994-2A=" ], "proteinEffect": { "hgvs": "ENSP00000510229.1:n.*994-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS831557" }, { "coordinates": [ { "allele": "A", "end": 2222, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2222, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000688404.1:c.1731-2A=" ], "proteinEffect": { "hgvs": "ENSP00000509939.1:n.1731-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS831610" }, { "coordinates": [ { "allele": "A", "end": 2601, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2601, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000688580.1:n.2602-2A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS831703" }, { "coordinates": [ { "allele": "A", "end": 2024, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2024, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000688665.1:c.1731-2A=" ], "proteinEffect": { "hgvs": "ENSP00000509209.1:n.1731-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS831752" }, { "coordinates": [ { "allele": "A", "end": 3605, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 3605, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000688766.1:n.3606-2A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS831803" }, { "coordinates": [ { "allele": "A", "end": 2383, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2383, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000688781.1:c.*1541-2A=" ], "proteinEffect": { "hgvs": "ENSP00000510196.1:n.*1541-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS831816" }, { "coordinates": [ { "allele": "A", "end": 2552, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2552, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000689082.1:n.2553-2A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS831978" }, { "coordinates": [ { "allele": "A", "end": 3665, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 3665, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000689411.1:n.3666-2A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS832156" }, { "coordinates": [ { "allele": "A", "end": 2275, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2275, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000689539.1:c.1731-2A=" ], "proteinEffect": { "hgvs": "ENSP00000510360.1:n.1731-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS832228" }, { "coordinates": [ { "allele": "A", "end": 2123, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2123, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000689556.1:c.1587-2A=" ], "proteinEffect": { "hgvs": "ENSP00000508543.1:n.1587-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS832238" }, { "coordinates": [ { "allele": "A", "end": 3037, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 3037, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000689778.1:n.3038-2A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS832359" }, { "coordinates": [ { "allele": "A", "end": 2195, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2195, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000690292.1:c.*1366-2A=" ], "proteinEffect": { "hgvs": "ENSP00000510303.1:n.*1366-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS832635" }, { "coordinates": [ { "allele": "A", "end": 2032, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2032, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000690529.1:c.1731-2A=" ], "proteinEffect": { "hgvs": "ENSP00000510733.1:n.1731-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS832745" }, { "coordinates": [ { "allele": "A", "end": 2221, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2221, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000690720.1:c.1731-2A=" ], "proteinEffect": { "hgvs": "ENSP00000509832.1:n.1731-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS832846" }, { "coordinates": [ { "allele": "A", "end": 2048, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2048, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000690751.1:c.*1094-2A=" ], "proteinEffect": { "hgvs": "ENSP00000509101.1:n.*1094-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS832859" }, { "coordinates": [ { "allele": "A", "end": 2686, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2686, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000690904.1:n.2687-2A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS832937" }, { "coordinates": [ { "allele": "A", "end": 2076, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2076, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000690908.1:c.1587-2A=" ], "proteinEffect": { "hgvs": "ENSP00000510110.1:n.1587-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS832940" }, { "coordinates": [ { "allele": "A", "end": 2194, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2194, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000691239.1:c.*905-2A=" ], "proteinEffect": { "hgvs": "ENSP00000508475.1:n.*905-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS833117" }, { "coordinates": [ { "allele": "A", "end": 2163, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2163, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000691827.1:c.*1541-2A=" ], "proteinEffect": { "hgvs": "ENSP00000508551.1:n.*1541-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS833399" }, { "coordinates": [ { "allele": "A", "end": 2490, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2490, "startIntronDirection": "-", "startIntronOffset": 2 } ], "hgvs": [ "ENST00000691972.1:c.1731-2A=" ], "proteinEffect": { "hgvs": "ENSP00000510591.1:n.1731-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS833472" }, { "coordinates": [ { "allele": "A", "end": 2873, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2873, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000692000.1:n.2874-2A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS833487" }, { "coordinates": [ { "allele": "A", "end": 2243, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2243, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000692157.1:c.1731-2A=" ], "proteinEffect": { "hgvs": "ENSP00000509514.1:n.1731-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS833571" }, { "coordinates": [ { "allele": "A", "end": 2107, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2107, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000692205.1:n.2108-2A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS833598" }, { "coordinates": [ { "allele": "A", "end": 2248, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2248, "startIntronDirection": "-", "startIntronOffset": 2 } ], "hgvs": [ "ENST00000692281.1:c.1731-2A=" ], "proteinEffect": { "hgvs": "ENSP00000510568.1:n.1731-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS833638" }, { "coordinates": [ { "allele": "A", "end": 2875, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2875, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000692361.1:n.2876-2A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS833682" }, { "coordinates": [ { "allele": "A", "end": 2377, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2377, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000692690.1:c.*1238-2A=" ], "proteinEffect": { "hgvs": "ENSP00000509642.1:n.*1238-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS833834" }, { "coordinates": [ { "allele": "A", "end": 2229, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2229, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000692807.1:c.1731-2A=" ], "proteinEffect": { "hgvs": "ENSP00000508564.1:n.1731-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS833900" }, { "coordinates": [ { "allele": "A", "end": 3986, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 3986, "startIntronDirection": "-", "startIntronOffset": 2 } ], "hgvs": [ "ENST00000693096.1:n.3987-2A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS834060" }, { "coordinates": [ { "allele": "A", "end": 1628, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1628, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000693563.1:c.*994-2A=" ], "proteinEffect": { "hgvs": "ENSP00000510120.1:n.*994-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS834312" }, { "coordinates": [ { "allele": "A", "end": 2275, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2275, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000394505.7:c.1731-2A=" ], "proteinEffect": { "hgvs": "ENSP00000378013.2:n.1731-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS753268", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000394505.7:c.1731-2A=" }, "RefSeq": { "hgvs": "NM_194454.3:c.1731-2A=" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000378013.2:n.1731-2A=" }, "RefSeq": { "hgvs": "NP_919436.1:n.1731-2A=" } } } }, { "coordinates": [ { "allele": "A", "end": 2514, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2514, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000458177.6:c.1731-2A=" ], "proteinEffect": { "hgvs": "ENSP00000391675.2:n.1731-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS756625" }, { "coordinates": [ { "allele": "A", "end": 2248, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2248, "startIntronDirection": "-", "startIntronOffset": 2 } ], "hgvs": [ "ENST00000650585.1:c.1731-2A=" ], "proteinEffect": { "hgvs": "ENSP00000498010.1:n.1731-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS771194" }, { "coordinates": [ { "allele": "A", "end": 2749, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2749, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000340022.6:c.1731-2A=" ], "proteinEffect": { "hgvs": "ENSP00000344668.2:n.1731-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS261003" }, { "coordinates": [ { "allele": "A", "end": 1983, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1983, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000394503.6:c.1587-2A=" ], "proteinEffect": { "hgvs": "ENSP00000378011.2:n.1587-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS276194" }, { "coordinates": [ { "allele": "A", "end": 2284, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2284, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000394505.6:c.1731-2A=" ], "proteinEffect": { "hgvs": "ENSP00000378013.2:n.1731-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS276195" }, { "coordinates": [ { "allele": "A", "end": 2514, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2514, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000394507.5:c.1731-2A=" ], "proteinEffect": { "hgvs": "ENSP00000378015.1:n.1731-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS276196" }, { "coordinates": [ { "allele": "A", "end": 2519, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2519, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000412043.6:c.1731-2A=" ], "proteinEffect": { "hgvs": "ENSP00000410909.2:n.1731-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS282437" }, { "coordinates": [ { "allele": "A", "end": 1372, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1372, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000475770.5:n.1373-2A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS316976" }, { "coordinates": [ { "allele": "A", "end": 2253, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2253, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000486261.5:n.2254-2A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS325108" }, { "coordinates": [ { "allele": "A", "end": 2212, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2212, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "ENST00000611677.4:c.*31-2A=" ], "proteinEffect": { "hgvs": "ENSP00000478777.1:n.*31-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS400961" }, { "coordinates": [ { "allele": "A", "end": 1983, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1983, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001013406.1:c.1587-2A=" ], "proteinEffect": { "hgvs": "NP_001013424.1:n.1587-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS008403" }, { "coordinates": [ { "allele": "A", "end": 2622, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2622, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_004912.3:c.1731-2A=" ], "proteinEffect": { "hgvs": "NP_004903.2:n.1731-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS030049" }, { "coordinates": [ { "allele": "A", "end": 2275, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2275, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_194454.1:c.1731-2A=" ], "proteinEffect": { "hgvs": "NP_919436.1:n.1731-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS044364" }, { "coordinates": [ { "allele": "A", "end": 2749, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2749, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_194455.1:c.1731-2A=" ], "proteinEffect": { "hgvs": "NP_919437.1:n.1731-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS044365" }, { "coordinates": [ { "allele": "A", "end": 2514, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2514, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_194456.1:c.1731-2A=", "LRG_650t1:c.1731-2A=" ], "proteinEffect": { "hgvs": "NP_919438.1:n.1731-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS044366" }, { "coordinates": [ { "allele": "A", "end": 2242, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2242, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_005250660.2:c.1731-2A=" ], "proteinEffect": { "hgvs": "XP_005250717.1:n.1731-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS059246" }, { "coordinates": [ { "allele": "A", "end": 2221, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2221, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_005250662.2:c.1731-2A=" ], "proteinEffect": { "hgvs": "XP_005250719.1:n.1731-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS059247" }, { "coordinates": [ { "allele": "A", "end": 2127, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2127, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_005250664.2:c.1731-2A=" ], "proteinEffect": { "hgvs": "XP_005250721.1:n.1731-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS059248" }, { "coordinates": [ { "allele": "A", "end": 2149, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2149, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_005250665.2:c.1731-2A=" ], "proteinEffect": { "hgvs": "XP_005250722.1:n.1731-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS059249" }, { "coordinates": [ { "allele": "A", "end": 2325, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2325, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_005250666.2:c.1731-2A=" ], "proteinEffect": { "hgvs": "XP_005250723.1:n.1731-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS059250" }, { "coordinates": [ { "allele": "A", "end": 2033, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2033, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_005250667.2:c.1731-2A=" ], "proteinEffect": { "hgvs": "XP_005250724.1:n.1731-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS059251" }, { "coordinates": [ { "allele": "A", "end": 2095, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2095, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_005250668.2:c.1731-2A=" ], "proteinEffect": { "hgvs": "XP_005250725.1:n.1731-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS059252" }, { "coordinates": [ { "allele": "A", "end": 2073, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2073, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_005250669.2:c.1731-2A=" ], "proteinEffect": { "hgvs": "XP_005250726.1:n.1731-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS059253" }, { "coordinates": [ { "allele": "A", "end": 2600, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2600, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_006716160.2:c.1731-2A=" ], "proteinEffect": { "hgvs": "XP_006716223.1:n.1731-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS071530" }, { "coordinates": [ { "allele": "A", "end": 2373, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2373, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_006716161.2:c.1731-2A=" ], "proteinEffect": { "hgvs": "XP_006716224.1:n.1731-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS071531" }, { "coordinates": [ { "allele": "A", "end": 2190, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2190, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_006716162.2:c.1731-2A=" ], "proteinEffect": { "hgvs": "XP_006716225.1:n.1731-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS071532" }, { "coordinates": [ { "allele": "A", "end": 2040, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2040, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_006716163.2:c.1731-2A=" ], "proteinEffect": { "hgvs": "XP_006716226.1:n.1731-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS071533" }, { "coordinates": [ { "allele": "A", "end": 2356, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2356, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516651.1:c.1731-2A=" ], "proteinEffect": { "hgvs": "XP_011514953.1:n.1731-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS083851" }, { "coordinates": [ { "allele": "A", "end": 2221, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2221, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516652.1:c.1731-2A=" ], "proteinEffect": { "hgvs": "XP_011514954.1:n.1731-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS083852" }, { "coordinates": [ { "allele": "A", "end": 2109, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2109, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516653.1:c.1731-2A=" ], "proteinEffect": { "hgvs": "XP_011514955.1:n.1731-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS083853" }, { "coordinates": [ { "allele": "A", "end": 2374, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2374, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516654.1:c.1731-2A=" ], "proteinEffect": { "hgvs": "XP_011514956.1:n.1731-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS083854" }, { "coordinates": [ { "allele": "A", "end": 2032, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2032, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516655.1:c.1731-2A=" ], "proteinEffect": { "hgvs": "XP_011514957.1:n.1731-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS083855" }, { "coordinates": [ { "allele": "A", "end": 1990, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1990, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516656.1:c.1731-2A=" ], "proteinEffect": { "hgvs": "XP_011514958.1:n.1731-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS083856" }, { "coordinates": [ { "allele": "A", "end": 1917, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1917, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516657.1:c.1731-2A=" ], "proteinEffect": { "hgvs": "XP_011514959.1:n.1731-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS083857" }, { "coordinates": [ { "allele": "A", "end": 1953, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1953, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516658.1:c.1731-2A=" ], "proteinEffect": { "hgvs": "XP_011514960.1:n.1731-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS083858" }, { "coordinates": [ { "allele": "A", "end": 1951, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1951, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516659.1:c.1731-2A=" ], "proteinEffect": { "hgvs": "XP_011514961.1:n.1731-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS083859" }, { "coordinates": [ { "allele": "A", "end": 1833, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1833, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516660.1:c.1731-2A=" ], "proteinEffect": { "hgvs": "XP_011514962.1:n.1731-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS083860" }, { "coordinates": [ { "allele": "A", "end": 1755, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1755, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516661.1:c.1731-2A=" ], "proteinEffect": { "hgvs": "XP_011514963.1:n.1731-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS083861" }, { "coordinates": [ { "allele": "A", "end": 2169, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2169, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001013406.2:c.1587-2A=" ], "proteinEffect": { "hgvs": "NP_001013424.1:n.1587-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS511027" }, { "coordinates": [ { "allele": "A", "end": 2137, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2137, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350669.1:c.1587-2A=" ], "proteinEffect": { "hgvs": "NP_001337598.1:n.1587-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS519552" }, { "coordinates": [ { "allele": "A", "end": 2317, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2317, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350670.1:c.1587-2A=" ], "proteinEffect": { "hgvs": "NP_001337599.1:n.1587-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS519553" }, { "coordinates": [ { "allele": "A", "end": 2507, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2507, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350671.1:c.1017-2A=" ], "proteinEffect": { "hgvs": "NP_001337600.1:n.1017-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS519554" }, { "coordinates": [ { "allele": "A", "end": 1927, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1927, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350672.1:c.1731-2A=" ], "proteinEffect": { "hgvs": "NP_001337601.1:n.1731-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS519555" }, { "coordinates": [ { "allele": "A", "end": 2197, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2197, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350673.1:c.1731-2A=" ], "proteinEffect": { "hgvs": "NP_001337602.1:n.1731-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS519556" }, { "coordinates": [ { "allele": "A", "end": 2426, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2426, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350674.1:c.1731-2A=" ], "proteinEffect": { "hgvs": "NP_001337603.1:n.1731-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS519557" }, { "coordinates": [ { "allele": "A", "end": 2345, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2345, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350675.1:c.1731-2A=" ], "proteinEffect": { "hgvs": "NP_001337604.1:n.1731-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS519558" }, { "coordinates": [ { "allele": "A", "end": 2308, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2308, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350676.1:c.1731-2A=" ], "proteinEffect": { "hgvs": "NP_001337605.1:n.1731-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS519559" }, { "coordinates": [ { "allele": "A", "end": 2096, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2096, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350677.1:c.1731-2A=" ], "proteinEffect": { "hgvs": "NP_001337606.1:n.1731-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS519560" }, { "coordinates": [ { "allele": "A", "end": 2177, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2177, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350678.1:c.1731-2A=" ], "proteinEffect": { "hgvs": "NP_001337607.1:n.1731-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS519561" }, { "coordinates": [ { "allele": "A", "end": 2259, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2259, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350679.1:c.1731-2A=" ], "proteinEffect": { "hgvs": "NP_001337608.1:n.1731-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS519562" }, { "coordinates": [ { "allele": "A", "end": 2139, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2139, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350680.1:c.1731-2A=" ], "proteinEffect": { "hgvs": "NP_001337609.1:n.1731-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS519563" }, { "coordinates": [ { "allele": "A", "end": 2674, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2674, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350681.1:c.1731-2A=" ], "proteinEffect": { "hgvs": "NP_001337610.1:n.1731-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS519564" }, { "coordinates": [ { "allele": "A", "end": 2636, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2636, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350682.1:c.1731-2A=" ], "proteinEffect": { "hgvs": "NP_001337611.1:n.1731-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS519565" }, { "coordinates": [ { "allele": "A", "end": 2293, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2293, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350683.1:c.1731-2A=" ], "proteinEffect": { "hgvs": "NP_001337612.1:n.1731-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS519566" }, { "coordinates": [ { "allele": "A", "end": 2424, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2424, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350684.1:c.1731-2A=" ], "proteinEffect": { "hgvs": "NP_001337613.1:n.1731-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS519567" }, { "coordinates": [ { "allele": "A", "end": 2429, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2429, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350685.1:c.1731-2A=" ], "proteinEffect": { "hgvs": "NP_001337614.1:n.1731-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS519568" }, { "coordinates": [ { "allele": "A", "end": 2638, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2638, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350686.1:c.1731-2A=" ], "proteinEffect": { "hgvs": "NP_001337615.1:n.1731-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS519569" }, { "coordinates": [ { "allele": "A", "end": 2180, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2180, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350687.1:c.1731-2A=" ], "proteinEffect": { "hgvs": "NP_001337616.1:n.1731-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS519570" }, { "coordinates": [ { "allele": "A", "end": 2276, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2276, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350688.1:c.1731-2A=" ], "proteinEffect": { "hgvs": "NP_001337617.1:n.1731-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS519571" }, { "coordinates": [ { "allele": "A", "end": 2407, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2407, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350689.1:c.1731-2A=" ], "proteinEffect": { "hgvs": "NP_001337618.1:n.1731-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS519572" }, { "coordinates": [ { "allele": "A", "end": 2313, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2313, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350690.1:c.1731-2A=" ], "proteinEffect": { "hgvs": "NP_001337619.1:n.1731-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS519573" }, { "coordinates": [ { "allele": "A", "end": 2368, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2368, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350691.1:c.1731-2A=" ], "proteinEffect": { "hgvs": "NP_001337620.1:n.1731-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS519574" }, { "coordinates": [ { "allele": "A", "end": 2554, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2554, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350692.1:c.1731-2A=" ], "proteinEffect": { "hgvs": "NP_001337621.1:n.1731-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS519575" }, { "coordinates": [ { "allele": "A", "end": 2441, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2441, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350693.1:c.1731-2A=" ], "proteinEffect": { "hgvs": "NP_001337622.1:n.1731-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS519576" }, { "coordinates": [ { "allele": "A", "end": 2255, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2255, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350694.1:c.1731-2A=" ], "proteinEffect": { "hgvs": "NP_001337623.1:n.1731-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS519577" }, { "coordinates": [ { "allele": "A", "end": 2406, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2406, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350695.1:c.1731-2A=" ], "proteinEffect": { "hgvs": "NP_001337624.1:n.1731-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS519578" }, { "coordinates": [ { "allele": "A", "end": 2191, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2191, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350696.1:c.1731-2A=" ], "proteinEffect": { "hgvs": "NP_001337625.1:n.1731-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS519579" }, { "coordinates": [ { "allele": "A", "end": 2572, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2572, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_001350697.1:c.1731-2A=" ], "proteinEffect": { "hgvs": "NP_001337626.1:n.1731-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS519580" }, { "coordinates": [ { "allele": "A", "end": 2824, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2824, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_004912.4:c.1731-2A=" ], "proteinEffect": { "hgvs": "NP_004903.2:n.1731-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS525261" }, { "coordinates": [ { "allele": "A", "end": 2461, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2461, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_194454.2:c.1731-2A=" ], "proteinEffect": { "hgvs": "NP_919436.1:n.1731-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS526936" }, { "coordinates": [ { "allele": "A", "end": 2325, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2325, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_005250666.4:c.1731-2A=" ], "proteinEffect": { "hgvs": "XP_005250723.1:n.1731-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS533474" }, { "coordinates": [ { "allele": "A", "end": 2190, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2190, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_006716162.4:c.1731-2A=" ], "proteinEffect": { "hgvs": "XP_006716225.1:n.1731-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS539113" }, { "coordinates": [ { "allele": "A", "end": 2356, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2356, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516651.3:c.1731-2A=" ], "proteinEffect": { "hgvs": "XP_011514953.1:n.1731-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS544249" }, { "coordinates": [ { "allele": "A", "end": 2374, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2374, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516654.3:c.1731-2A=" ], "proteinEffect": { "hgvs": "XP_011514956.1:n.1731-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS544250" }, { "coordinates": [ { "allele": "A", "end": 2028, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2028, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516655.3:c.1731-2A=" ], "proteinEffect": { "hgvs": "XP_011514957.1:n.1731-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS544251" }, { "coordinates": [ { "allele": "A", "end": 1929, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1929, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516658.3:c.1731-2A=" ], "proteinEffect": { "hgvs": "XP_011514960.1:n.1731-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS544252" }, { "coordinates": [ { "allele": "A", "end": 1951, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1951, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516659.3:c.1731-2A=" ], "proteinEffect": { "hgvs": "XP_011514961.1:n.1731-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS544253" }, { "coordinates": [ { "allele": "A", "end": 1833, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 1833, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516660.3:c.1731-2A=" ], "proteinEffect": { "hgvs": "XP_011514962.1:n.1731-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS544254" }, { "coordinates": [ { "allele": "A", "end": 2469, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2469, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_017012758.2:c.1017-2A=" ], "proteinEffect": { "hgvs": "XP_016868247.1:n.1017-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS566274" }, { "coordinates": [ { "allele": "A", "end": 2315, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2315, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_024446982.1:c.1731-2A=" ], "proteinEffect": { "hgvs": "XP_024302750.1:n.1731-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS580610" }, { "coordinates": [ { "allele": "A", "end": 2064, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2064, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_024446983.1:c.1731-2A=" ], "proteinEffect": { "hgvs": "XP_024302751.1:n.1731-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS580611" }, { "coordinates": [ { "allele": "A", "end": 3246, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 3246, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_024446984.1:c.894-2A=" ], "proteinEffect": { "hgvs": "XP_024302752.1:n.894-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS580612" }, { "coordinates": [ { "allele": "A", "end": 2275, "endIntronDirection": "-", "endIntronOffset": 1, "referenceAllele": "A", "start": 2275, "startIntronDirection": "-", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_194454.3:c.1731-2A=" ], "proteinEffect": { "hgvs": "NP_919436.1:n.1731-2A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS701223", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000394505.7:c.1731-2A=" }, "RefSeq": { "hgvs": "NM_194454.3:c.1731-2A=" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000378013.2:n.1731-2A=" }, "RefSeq": { "hgvs": "NP_919436.1:n.1731-2A=" } } } } ], "type": "nucleotide" }