UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.29942577_29942586delinsCCTCCTCCTG | CA1618522961 | HLA-A | c.24_33delinsCCTCCTCCTG (p.Thr8=) n.300_309delinsCCTCCTCCTG n.482_491delinsCAGGAGGAGG n.24_33delinsCCTCCTCCTG n.26_35delinsCCTCCTCCTG n.30_39delinsCCTCCTCCTG | |
| 6 | g.29942580_29942588del | CA3692845 | HLA-A | c.27_35del (p.Leu10_Leu12del) n.303_311del n.482_490del n.27_35del n.29_37del n.33_41del | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.29942586del | CA2677793602 | HLA-A | c.33del (p.Leu12TyrfsTer8) n.309del n.482del n.33del n.35del n.39del | gnomAD v4 |
| 6 | g.29942586G>A | CA449373786 | HLA-A | c.33G>A (p.Leu11=) n.309G>A n.482C>T n.33G>A n.35G>A n.39G>A | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.29942586G>C | CA449373789 | HLA-A | c.33G>C (p.Leu11=) n.309G>C n.482C>G n.33G>C n.35G>C n.39G>C | gnomAD v4 |
| 6 | g.29942586G= | CA1618522994 | HLA-A | c.33G= (p.Leu11=) n.309G= n.482C= n.33G= n.35G= n.39G= | |
| 6 | g.29942586G>T | CA449373792 | HLA-A | c.33G>T (p.Leu11=) n.309G>T n.482C>A n.33G>T n.35G>T n.39G>T | gnomAD v3 gnomAD v4 |
| 6 | g.29942587C>A | CA363045154 | HLA-A | c.34C>A (p.Leu12Ile) n.310C>A n.481G>T n.34C>A n.36C>A n.40C>A | gnomAD v3 gnomAD v4 |
| 6 | g.29942587C>G | CA363045155 | HLA-A | c.34C>G (p.Leu12Val) n.310C>G n.481G>C n.34C>G n.36C>G n.40C>G | gnomAD v4 |
| 6 | g.29942587C>T | CA449373801 | HLA-A | c.34C>T (p.Leu12=) n.310C>T n.481G>A n.34C>T n.36C>T n.40C>T | gnomAD v4 |
| 6 | g.29942588T>A | CA363045158 | HLA-A | c.35T>A (p.Leu12Gln) n.311T>A n.480A>T n.35T>A n.37T>A n.41T>A | gnomAD v4 |
| 6 | g.29942588T>C | CA363045159 | HLA-A | c.35T>C (p.Leu12Pro) n.311T>C n.480A>G n.35T>C n.37T>C n.41T>C | gnomAD v4 COSMIC COSMIC |
| 6 | g.29942588T>G | CA363045160 | HLA-A | c.35T>G (p.Leu12Arg) n.311T>G n.480A>C n.35T>G n.37T>G n.41T>G | gnomAD v3 gnomAD v4 |
| 6 | g.29942589del | CA2677793623 | HLA-A | c.36del (p.Leu13SerfsTer7) n.312del n.479del n.36del n.38del n.42del | gnomAD v4 |
| 6 | g.29942589A= | CA1618522999 | HLA-A | c.36A= (p.Leu12=) n.312A= n.479T= n.36A= n.38A= n.42A= | |
| 6 | g.29942589A>C | CA449373821 | HLA-A | c.36A>C (p.Leu12=) n.312A>C n.479T>G n.36A>C n.38A>C n.42A>C | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.29942589A>G | CA3692849 | HLA-A | c.36A>G (p.Leu12=) n.312A>G n.479T>C n.36A>G n.38A>G n.42A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.29942589A>T | CA449373827 | HLA-A | c.36A>T (p.Leu12=) n.312A>T n.479T>A n.36A>T n.38A>T n.42A>T | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.29942590C>A | CA363045162 | HLA-A | c.37C>A (p.Leu13Ile) n.313C>A n.478G>T n.37C>A n.39C>A n.43C>A | gnomAD v4 |
| 6 | g.29942590C>G | CA363045164 | HLA-A | c.37C>G (p.Leu13Val) n.313C>G n.478G>C n.37C>G n.39C>G n.43C>G | gnomAD v4 |
| 6 | g.29942590C>T | CA363045167 | HLA-A | c.37C>T (p.Leu13Phe) n.313C>T n.478G>A n.37C>T n.39C>T n.43C>T | gnomAD v4 |
| 6 | g.29942591T>A | CA363045173 | HLA-A | c.38T>A (p.Leu13His) n.314T>A n.477A>T n.38T>A n.40T>A n.44T>A | gnomAD v4 |
| 6 | g.29942591T>C | CA363045175 | HLA-A | c.38T>C (p.Leu13Pro) n.314T>C n.477A>G n.38T>C n.40T>C n.44T>C | gnomAD v3 gnomAD v4 |
| 6 | g.29942591T>G | CA363045170 | HLA-A | c.38T>G (p.Leu13Arg) n.314T>G n.477A>C n.38T>G n.40T>G n.44T>G | gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 6 | g.29942592C>A | CA449373840 | HLA-A | c.39C>A (p.Leu13=) n.315C>A n.476G>T n.39C>A n.41C>A n.45C>A | gnomAD v3 gnomAD v4 |
| 6 | g.29942592C= | CA1618523000 | HLA-A | c.39C= (p.Leu13=) n.315C= n.476G= n.39C= n.41C= n.45C= | |
| 6 | g.29942592C>G | CA449373847 | HLA-A | c.39C>G (p.Leu13=) n.315C>G n.476G>C n.39C>G n.41C>G n.45C>G | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.29942592C>T | CA449373842 | HLA-A | c.39C>T (p.Leu13=) n.315C>T n.476G>A n.39C>T n.41C>T n.45C>T | gnomAD v4 |
| 6 | g.29942593del | CA2677793641 | HLA-A | c.40del (p.Ser14ArgfsTer6) n.316del n.475del n.40del n.42del n.46del | gnomAD v4 |
| 6 | g.29942593T>A | CA363045179 | HLA-A | c.40T>A (p.Ser14Thr) n.316T>A n.475A>T n.40T>A n.42T>A n.46T>A | gnomAD v4 |
| 6 | g.29942593T>C | CA363045181 | HLA-A | c.40T>C (p.Ser14Pro) n.316T>C n.475A>G n.40T>C n.42T>C n.46T>C | dbSNP gnomAD v4 |
| 6 | g.29942593T>G | CA363045182 | HLA-A | c.40T>G (p.Ser14Ala) n.316T>G n.475A>C n.40T>G n.42T>G n.46T>G | gnomAD v3 gnomAD v4 |
| 6 | g.29942593dup | CA2677793642 | HLA-A | c.40dup (p.Ser14PhefsTer?) n.316dup n.475dup n.40dup n.42dup n.46dup | gnomAD v4 |
| 6 | g.29942593_29942594insTGGG | CA2770466755 | HLA-A | c.40_41insTGGG (p.Ser14LeufsTer?) n.316_317insTGGG n.474_475insCCCA n.40_41insTGGG n.42_43insTGGG n.46_47insTGGG | |
| 6 | g.29942594del | CA2677793652 | HLA-A | c.41del (p.Ser14TrpfsTer6) n.317del n.474del n.41del n.43del n.47del | gnomAD v4 |
| 6 | g.29942594C>A | CA363045183 | HLA-A | c.41C>A (p.Ser14Ter) n.317C>A n.474G>T n.41C>A n.43C>A n.47C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.29942594C= | CA1618523003 | HLA-A | c.41C= (p.Ser14=) n.317C= n.474G= n.41C= n.43C= n.47C= | |
| 6 | g.29942594C>G | CA363045184 | HLA-A | c.41C>G (p.Ser14Trp) n.317C>G n.474G>C n.41C>G n.43C>G n.47C>G | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.29942594C>T | CA3692850 | HLA-A | c.41C>T (p.Ser14Leu) n.317C>T n.474G>A n.41C>T n.43C>T n.47C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.[29942594C>T;29942863C>T;29942965G>C;29942982T>A;29942984G>A;29942985A>G;29942990G>C;29942994C>T;29942996C>G;29942997T>C;29943000G>T;29943002G>C;29943287A>G;29943309T>C;29943321T>C;29943337G>A;29943372C>T;29943426A>C;29943448A>G;29943451A>T;29943479T>G;29944124C>G;29944135A>G;29944144C>T;29944151C>G;29944153C>T;29944154A>G;29944193G>A;29944264C>T;29944310G>T;29944331G>C;29944503T>C;29944549G>A;29944556C>T;29944565G>A;29944568A>T;29944571A>G;29944591C>T;29944596T>G;29945075T>C;29945079A>T;29945260G>A;29945265C>T] | CA2580573343 | HLA-A | c.[41C>T;180C>T;282G>C;299T>A;301G>A;302A>G;307G>C;311C>T;313C>G;314T>C;317G>T;319G>C;363A>G;385T>C;397T>C;413G>A;448C>T;502A>C;524A>G;527A>T;555T>G;622C>G;633A>G;642C>T;649C>G;651C>T;652A>G;691G>A;762C>T;808G>T;829G>C;895+106T>C;895+152G>A;895+159C>T;895+168G>A;895+171A>T;895+174A>G;895+194C>T;895+199T>G;912T>C;916A>T;955G>A;960C>T] (p.[Ser14Leu;Phe60=;Gln94His;Val100Glu;Asp101Asn;Asp101Gly;Gly103Arg;Thr104Ile;Leu105Val;Leu105Pro;Arg106Leu;Gly107Arg;Ile121Met;Ser129Pro;Phe133Leu;Arg138Gln;Leu150=;Lys168Gln;His175Arg;Glu176Val;Asp185Glu;Pro208Ala;Thr211=;Thr214=;Pro217Ala;Pro217=;Ile218Val;Gly231Ser;Leu254=;Ala270Ser;Glu277Gln;Ser304=;Thr306Ser;Val319Met;Ser320=]) n.[317C>T;456C>T;558G>C;575T>A;577G>A;578A>G;583G>C;587C>T;589C>G;590T>C;593G>T;595G>C;639A>G;661T>C;673T>C;689G>A;724C>T;778A>C;800A>G;803A>T;831T>G;1476C>G;1487A>G;1496C>T;1503C>G;1505C>T;1506A>G;1545G>A;1616C>T;1662G>T;1683G>C;1855T>C;1901G>A;1908C>T;1917G>A;1920A>T;1923A>G;1943C>T;1948T>G;2427T>C;2431A>T;2612G>A;2617C>T] c.[41C>T;180C>T;282G>C;299T>A;301G>A;302A>G;307G>C;311C>T;313C>G;314T>C;317G>T;319G>C;363A>G;385T>C;397T>C;413G>A;448C>T;502A>C;524A>G;527A>T;555T>G;622C>G;633A>G;642C>T;649C>G;651C>T;652A>G;691G>A;762C>T;808G>T;829G>C;933T>C;979G>A;986C>T;995G>A;998A>T;1001A>G;1021C>T;1026T>G;*13T>C;*17A>T;*56G>A;*61C>T] ([p.Ser14Leu;p.Phe60=;p.Gln94His;p.Val100Glu;p.Asp101Asn;p.Asp101Gly;p.Gly103Arg;p.Thr104Ile;p.Leu105Val;p.Leu105Pro;p.Arg106Leu;p.Gly107Arg;p.Ile121Met;p.Ser129Pro;p.Phe133Leu;p.Arg138Gln;p.Leu150=;p.Lys168Gln;p.His175Arg;p.Glu176Val;p.Asp185Glu;p.Pro208Ala;p.Thr211=;p.Thr214=;p.Pro217Ala;p.Pro217=;p.Ile218Val;p.Gly231Ser;p.Leu254=;p.Ala270Ser;p.Glu277Gln;p.Ala311=;p.Gly327Ser;p.Pro329Leu;p.Cys332Tyr;p.Asp333Val;p.His334Arg;p.Arg341Cys;p.Asp342Glu;n.*13T>C]) c.[41C>T;180C>T;282G>C;299T>A;301G>A;302A>G;307G>C;311C>T;313C>G;314T>C;317G>T;319G>C;363A>G;385T>C;397T>C;413G>A;448C>T;502A>C;524A>G;527A>T;555T>G;622C>G;633A>G;642C>T;649C>G;651C>T;652A>G;691G>A;762C>T;808G>T;829G>C;899T>C;945G>A;952C>T;961G>A;964A>T;967A>G;987C>T;992T>G;1029T>C;1033A>T;1072G>A;1077C>T] (p.[Ser14Leu;Phe60=;Gln94His;Val100Glu;Asp101Asn;Asp101Gly;Gly103Arg;Thr104Ile;Leu105Val;Leu105Pro;Arg106Leu;Gly107Arg;Ile121Met;Ser129Pro;Phe133Leu;Arg138Gln;Leu150=;Lys168Gln;His175Arg;Glu176Val;Asp185Glu;Pro208Ala;Thr211=;Thr214=;Pro217Ala;Pro217=;Ile218Val;Gly231Ser;Leu254=;Ala270Ser;Glu277Gln;Leu300Pro;Leu315=;Leu318Phe;Val321Met;Ile322Phe;Thr323Ala;Ala329=;Met331Arg;Ser343=;Thr345Ser;Val358Met;Ser359=]) n.[317C>T;456C>T;558G>C;575T>A;577G>A;578A>G;583G>C;587C>T;589C>G;590T>C;593G>T;595G>C;639A>G;661T>C;673T>C;689G>A;724C>T;778A>C;800A>G;803A>T;831T>G;898C>G;909A>G;918C>T;925C>G;927C>T;928A>G;967G>A;1038C>T;1084G>T;1105G>C;1277T>C;1323G>A;1330C>T;1339G>A;1342A>T;1345A>G;1365C>T;1370T>G;1849T>C;1853A>T;1892G>A;1897C>T] n.[317C>T;456C>T;558G>C;575T>A;577G>A;578A>G;583G>C;587C>T;589C>G;590T>C;593G>T;595G>C;639A>G;661T>C;673T>C;689G>A;724C>T;778A>C;800A>G;803A>T;831T>G;1476C>G;1487A>G;1496C>T;1503C>G;1505C>T;1506A>G;1545G>A;1616C>T;1662G>T;1683G>C;1753T>C;1799G>A;1806C>T;1815G>A;1818A>T;1821A>G;1841C>T;1846T>G;2325T>C;2329A>T;2368G>A;2373C>T] n.[317C>T;456C>T;558G>C;575T>A;577G>A;578A>G;583G>C;587C>T;589C>G;590T>C;593G>T;595G>C;639A>G;661T>C;673T>C;689G>A;724C>T;778A>C;800A>G;803A>T;831T>G;898C>G;909A>G;918C>T;925C>G;927C>T;928A>G;967G>A;1038C>T;1084G>T;1105G>C;1175T>C;1221G>A;1228C>T;1237G>A;1240A>T;1243A>G;1263C>T;1268T>G;1747T>C;1751A>T;1790G>A;1795C>T] c.[41C>T;180C>T;282G>C;299T>A;301G>A;302A>G;307G>C;311C>T;313C>G;314T>C;317G>T;319G>C;363A>G;385T>C;397T>C;413G>A;448C>T;502A>C;524A>G;527A>T;555T>G;622C>G;633A>G;642C>T;649C>G;651C>T;652A>G;691G>A;762C>T;808G>T;829G>C;899T>C;945G>A;952C>T;961G>A;964A>T;967A>G;987C>T;992T>G;1047T>C;1051A>T;1090G>A;1095C>T] (p.[Ser14Leu;Phe60=;Gln94His;Val100Glu;Asp101Asn;Asp101Gly;Gly103Arg;Thr104Ile;Leu105Val;Leu105Pro;Arg106Leu;Gly107Arg;Ile121Met;Ser129Pro;Phe133Leu;Arg138Gln;Leu150=;Lys168Gln;His175Arg;Glu176Val;Asp185Glu;Pro208Ala;Thr211=;Thr214=;Pro217Ala;Pro217=;Ile218Val;Gly231Ser;Leu254=;Ala270Ser;Glu277Gln;Leu300Pro;Leu315=;Leu318Phe;Val321Met;Ile322Phe;Thr323Ala;Ala329=;Met331Arg;Ser349=;Thr351Ser;Val364Met;Ser365=]) n.[317C>T;456C>T;558G>C;575T>A;577G>A;578A>G;583G>C;587C>T;589C>G;590T>C;593G>T;595G>C;639A>G;661T>C;673T>C;689G>A;724C>T;778A>C;800A>G;803A>T;831T>G;1476C>G;1487A>G;1496C>T;1503C>G;1505C>T;1506A>G;1545G>A;1616C>T;1662G>T;1683G>C;1753T>C;1799G>A;1806C>T;1815G>A;1818A>T;1821A>G;1841C>T;1846T>G;1883T>C;1887A>T;1926G>A;1931C>T] c.[41C>T;180C>T;282G>C;299T>A;301G>A;302A>G;307G>C;311C>T;313C>G;314T>C;317G>T;319G>C;363A>G;385T>C;397T>C;413G>A;448C>T;502A>C;524A>G;527A>T;555T>G;622C>G;633A>G;642C>T;649C>G;651C>T;652A>G;691G>A;762C>T;808G>T;829G>C;895+106T>C;895+152G>A;895+159C>T;895+168G>A;895+171A>T;895+174A>G;895+194C>T;895+199T>G;896-376T>C;896-372A>T;896-191G>A;896-186C>T] (p.[Ser14Leu;Phe60=;Gln94His;Val100Glu;Asp101Asn;Asp101Gly;Gly103Arg;Thr104Ile;Leu105Val;Leu105Pro;Arg106Leu;Gly107Arg;Ile121Met;Ser129Pro;Phe133Leu;Arg138Gln;Leu150=;Lys168Gln;His175Arg;Glu176Val;Asp185Glu;Pro208Ala;Thr211=;Thr214=;Pro217Ala;Pro217=;Ile218Val;Gly231Ser;Leu254=;Ala270Ser;Glu277Gln]) n.[41C>T;180C>T;282G>C;299T>A;301G>A;302A>G;307G>C;311C>T;313C>G;314T>C;317G>T;319G>C;604A>G;626T>C;638T>C;654G>A;689C>T;743A>C;765A>G;768A>T;796T>G;863C>G;874A>G;883C>T;890C>G;892C>T;893A>G;932G>A;1003C>T;1049G>T;1070G>C;1140T>C;1186G>A;1193C>T;1202G>A;1205A>T;1208A>G;1228C>T;1233T>G;1288T>C;1292A>T;1331G>A;1336C>T] n.[41C>T;180C>T;282G>C;299T>A;301G>A;302A>G;307G>C;311C>T;313C>G;314T>C;317G>T;319G>C;604A>G;626T>C;638T>C;654G>A;689C>T;743A>C;765A>G;768A>T;796T>G;863C>G;874A>G;883C>T;890C>G;892C>T;893A>G;932G>A;1003C>T;1049G>T;1070G>C;1140T>C;1186G>A;1193C>T;1202G>A;1205A>T;1208A>G;1228C>T;1233T>G;1270T>C;1274A>T;1313G>A;1318C>T] n.[43C>T;182C>T;284G>C;301T>A;303G>A;304A>G;309G>C;313C>T;315C>G;316T>C;319G>T;321G>C;606A>G;628T>C;640T>C;656G>A;691C>T;745A>C;767A>G;770A>T;798T>G;865C>G;876A>G;885C>T;892C>G;894C>T;895A>G;934G>A;1005C>T;1051G>T;1072G>C;1142T>C;1188G>A;1195C>T;1204G>A;1207A>T;1210A>G;1230C>T;1235T>G;1268T>C;1272A>T;1311G>A;1316C>T] n.[47C>T;177+9C>T;177+111G>C;177+128T>A;177+130G>A;177+131A>G;177+136G>C;177+140C>T;177+142C>G;177+143T>C;177+146G>T;177+148G>C;180A>G;202T>C;214T>C;230G>A;265C>T;319A>C;341A>G;344A>T;372T>G;439C>G;450A>G;459C>T;466C>G;468C>T;469A>G;508G>A;579C>T;625G>T;646G>C;716T>C;762G>A;769C>T;778G>A;781A>T;784A>G;804C>T;809T>G;1288T>C;1292A>T;1331G>A;1336C>T] | ClinVar |
| 6 | g.29942594_29942595del | CA2770466756 | HLA-A | c.41_42del (p.Ser14TrpfsTer?) n.317_318del n.473_474del n.41_42del n.43_44del n.47_48del | |
| 6 | g.29942594_29942595delinsCG | CA1618523004 | HLA-A | c.41_42delinsCG (p.Ser14=) n.317_318delinsCG n.473_474delinsCG n.41_42delinsCG n.43_44delinsCG n.47_48delinsCG | |
| 6 | g.29942594_29942595insA | CA2677793665 | HLA-A | c.41_42insA (p.Ala16GlyfsTer?) n.317_318insA n.473_474insT n.41_42insA n.43_44insA n.47_48insA | gnomAD v4 |
| 6 | g.29942595G>A | CA3692851 | HLA-A | c.42G>A (p.Ser14=) n.318G>A n.473C>T n.42G>A n.44G>A n.48G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.29942595G>C | CA449373876 | HLA-A | c.42G>C (p.Ser14=) n.318G>C n.473C>G n.42G>C n.44G>C n.48G>C | dbSNP gnomAD v4 |
| 6 | g.29942595G= | CA1618523005 | HLA-A | c.42G= (p.Ser14=) n.318G= n.473C= n.42G= n.44G= n.48G= | |
| 6 | g.29942595G>T | CA449373880 | HLA-A | c.42G>T (p.Ser14=) n.318G>T n.473C>A n.42G>T n.44G>T n.48G>T | gnomAD v4 |
| 6 | g.29942599dup | CA2537688413 | HLA-A | c.46dup (p.Ala16GlyfsTer?) n.322dup n.473dup n.46dup n.48dup n.52dup | gnomAD v4 |
| 6 | g.29942599del | CA136018211 | HLA-A | c.46del (p.Ala16ProfsTer4) n.322del n.473del n.46del n.48del n.52del | dbSNP gnomAD v4 COSMIC COSMIC |
| 6 | g.29942595_29942596insT | CA2677793692 | HLA-A | c.42_43insT (p.Gly15TrpfsTer?) n.318_319insT n.472_473insA n.42_43insT n.44_45insT n.48_49insT | gnomAD v4 |