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 |
|---|---|---|---|---|---|
| 12 | g.80238872_80238874delinsCTA | CA2049153199 | OTOGL | c.839_841delinsCTA (p.Ala280=) n.1499_1501delinsCTA c.812_814delinsCTA (p.Ala271=) c.863_865delinsCTA (p.Ala288=) c.710_712delinsCTA (p.Ala237=) c.497_499delinsCTA (p.Ala166=) | |
| 12 | g.80238874_80238875del | CA6700284 | OTOGL | c.841_842del (p.Met281ValfsTer4) n.1501_1502del c.814_815del (p.Met272ValfsTer4) c.865_866del (p.Met289ValfsTer4) c.712_713del (p.Met238ValfsTer4) c.499_500del (p.Met167ValfsTer4) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.80238874A>C | CA385850028 | OTOGL | c.841A>C (p.Met281Leu) n.1501A>C c.814A>C (p.Met272Leu) c.865A>C (p.Met289Leu) c.712A>C (p.Met238Leu) c.499A>C (p.Met167Leu) | |
| 12 | g.80238874A>G | CA385850029 | OTOGL | c.841A>G (p.Met281Val) n.1501A>G c.814A>G (p.Met272Val) c.865A>G (p.Met289Val) c.712A>G (p.Met238Val) c.499A>G (p.Met167Val) | |
| 12 | g.80238874A>T | CA385850030 | OTOGL | c.841A>T (p.Met281Leu) n.1501A>T c.814A>T (p.Met272Leu) c.865A>T (p.Met289Leu) c.712A>T (p.Met238Leu) c.499A>T (p.Met167Leu) | |
| 12 | g.80238875T>A | CA385850033 | OTOGL | c.842T>A (p.Met281Lys) n.1502T>A c.815T>A (p.Met272Lys) c.866T>A (p.Met289Lys) c.713T>A (p.Met238Lys) c.500T>A (p.Met167Lys) | |
| 12 | g.80238875T>C | CA385850032 | OTOGL | c.842T>C (p.Met281Thr) n.1502T>C c.815T>C (p.Met272Thr) c.866T>C (p.Met289Thr) c.713T>C (p.Met238Thr) c.500T>C (p.Met167Thr) | |
| 12 | g.80238875T>G | CA385850031 | OTOGL | c.842T>G (p.Met281Arg) n.1502T>G c.815T>G (p.Met272Arg) c.866T>G (p.Met289Arg) c.713T>G (p.Met238Arg) c.500T>G (p.Met167Arg) | |
| 12 | g.80238876G>A | CA385850034 | OTOGL | c.843G>A (p.Met281Ile) n.1503G>A c.816G>A (p.Met272Ile) c.867G>A (p.Met289Ile) c.714G>A (p.Met238Ile) c.501G>A (p.Met167Ile) | |
| 12 | g.80238876G>C | CA385850035 | OTOGL | c.843G>C (p.Met281Ile) n.1503G>C c.816G>C (p.Met272Ile) c.867G>C (p.Met289Ile) c.714G>C (p.Met238Ile) c.501G>C (p.Met167Ile) | gnomAD v4 |
| 12 | g.80238876G>T | CA385850036 | OTOGL | c.843G>T (p.Met281Ile) n.1503G>T c.816G>T (p.Met272Ile) c.867G>T (p.Met289Ile) c.714G>T (p.Met238Ile) c.501G>T (p.Met167Ile) | gnomAD v4 |
| 12 | g.80238877T>A | CA385850037 | OTOGL | c.844T>A (p.Phe282Ile) n.1504T>A c.817T>A (p.Phe273Ile) c.868T>A (p.Phe290Ile) c.715T>A (p.Phe239Ile) c.502T>A (p.Phe168Ile) | |
| 12 | g.80238877T>C | CA385850038 | OTOGL | c.844T>C (p.Phe282Leu) n.1504T>C c.817T>C (p.Phe273Leu) c.868T>C (p.Phe290Leu) c.715T>C (p.Phe239Leu) c.502T>C (p.Phe168Leu) | |
| 12 | g.80238877T>G | CA385850039 | OTOGL | c.844T>G (p.Phe282Val) n.1504T>G c.817T>G (p.Phe273Val) c.868T>G (p.Phe290Val) c.715T>G (p.Phe239Val) c.502T>G (p.Phe168Val) | |
| 12 | g.80238878T>A | CA385850040 | OTOGL | c.845T>A (p.Phe282Tyr) n.1505T>A c.818T>A (p.Phe273Tyr) c.869T>A (p.Phe290Tyr) c.716T>A (p.Phe239Tyr) c.503T>A (p.Phe168Tyr) | |
| 12 | g.80238878T>C | CA385850041 | OTOGL | c.845T>C (p.Phe282Ser) n.1505T>C c.818T>C (p.Phe273Ser) c.869T>C (p.Phe290Ser) c.716T>C (p.Phe239Ser) c.503T>C (p.Phe168Ser) | |
| 12 | g.80238878T>G | CA385850042 | OTOGL | c.845T>G (p.Phe282Cys) n.1505T>G c.818T>G (p.Phe273Cys) c.869T>G (p.Phe290Cys) c.716T>G (p.Phe239Cys) c.503T>G (p.Phe168Cys) | |
| 12 | g.80238879T>A | CA385850043 | OTOGL | c.846T>A (p.Phe282Leu) n.1506T>A c.819T>A (p.Phe273Leu) c.870T>A (p.Phe290Leu) c.717T>A (p.Phe239Leu) c.504T>A (p.Phe168Leu) | gnomAD v4 |
| 12 | g.80238879T>C | CA480810203 | OTOGL | c.846T>C (p.Phe282=) n.1506T>C c.819T>C (p.Phe273=) c.870T>C (p.Phe290=) c.717T>C (p.Phe239=) c.504T>C (p.Phe168=) | |
| 12 | g.80238879T>G | CA385850044 | OTOGL | c.846T>G (p.Phe282Leu) n.1506T>G c.819T>G (p.Phe273Leu) c.870T>G (p.Phe290Leu) c.717T>G (p.Phe239Leu) c.504T>G (p.Phe168Leu) | gnomAD v4 |
| 12 | g.80238880G>A | CA385850045 | OTOGL | c.847G>A (p.Ala283Thr) n.1507G>A c.820G>A (p.Ala274Thr) c.871G>A (p.Ala291Thr) c.718G>A (p.Ala240Thr) c.505G>A (p.Ala169Thr) | |
| 12 | g.80238880G>C | CA385850046 | OTOGL | c.847G>C (p.Ala283Pro) n.1507G>C c.820G>C (p.Ala274Pro) c.871G>C (p.Ala291Pro) c.718G>C (p.Ala240Pro) c.505G>C (p.Ala169Pro) | |
| 12 | g.80238880G>T | CA385850047 | OTOGL | c.847G>T (p.Ala283Ser) n.1507G>T c.820G>T (p.Ala274Ser) c.871G>T (p.Ala291Ser) c.718G>T (p.Ala240Ser) c.505G>T (p.Ala169Ser) | gnomAD v4 |
| 12 | g.80238881C>A | CA385850050 | OTOGL | c.848C>A (p.Ala283Glu) n.1508C>A c.821C>A (p.Ala274Glu) c.872C>A (p.Ala291Glu) c.719C>A (p.Ala240Glu) c.506C>A (p.Ala169Glu) | |
| 12 | g.80238881C>G | CA385850049 | OTOGL | c.848C>G (p.Ala283Gly) n.1508C>G c.821C>G (p.Ala274Gly) c.872C>G (p.Ala291Gly) c.719C>G (p.Ala240Gly) c.506C>G (p.Ala169Gly) | |
| 12 | g.80238881C>T | CA385850048 | OTOGL | c.848C>T (p.Ala283Val) n.1508C>T c.821C>T (p.Ala274Val) c.872C>T (p.Ala291Val) c.719C>T (p.Ala240Val) c.506C>T (p.Ala169Val) | |
| 12 | g.80238882A= | CA2049153200 | OTOGL | c.849A= (p.Ala283=) n.1509A= c.822A= (p.Ala274=) c.873A= (p.Ala291=) c.720A= (p.Ala240=) c.507A= (p.Ala169=) | |
| 12 | g.80238882A>C | CA480810205 | OTOGL | c.849A>C (p.Ala283=) n.1509A>C c.822A>C (p.Ala274=) c.873A>C (p.Ala291=) c.720A>C (p.Ala240=) c.507A>C (p.Ala169=) | |
| 12 | g.80238882A>G | CA480810207 | OTOGL | c.849A>G (p.Ala283=) n.1509A>G c.822A>G (p.Ala274=) c.873A>G (p.Ala291=) c.720A>G (p.Ala240=) c.507A>G (p.Ala169=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.80238882A>T | CA480810206 | OTOGL | c.849A>T (p.Ala283=) n.1509A>T c.822A>T (p.Ala274=) c.873A>T (p.Ala291=) c.720A>T (p.Ala240=) c.507A>T (p.Ala169=) | |
| 12 | g.80238883A= | CA2049153201 | OTOGL | c.850A= (p.Asn284=) n.1510A= c.823A= (p.Asn275=) c.874A= (p.Asn292=) c.721A= (p.Asn241=) c.508A= (p.Asn170=) | |
| 12 | g.80238883A>C | CA385850051 | OTOGL | c.850A>C (p.Asn284His) n.1510A>C c.823A>C (p.Asn275His) c.874A>C (p.Asn292His) c.721A>C (p.Asn241His) c.508A>C (p.Asn170His) | |
| 12 | g.80238883A>G | CA385850052 | OTOGL | c.850A>G (p.Asn284Asp) n.1510A>G c.823A>G (p.Asn275Asp) c.874A>G (p.Asn292Asp) c.721A>G (p.Asn241Asp) c.508A>G (p.Asn170Asp) | |
| 12 | g.80238883A>T | CA385850053 | OTOGL | c.850A>T (p.Asn284Tyr) n.1510A>T c.823A>T (p.Asn275Tyr) c.874A>T (p.Asn292Tyr) c.721A>T (p.Asn241Tyr) c.508A>T (p.Asn170Tyr) | |
| 12 | g.80238883_80238884insCATCGCTATGTTTGCA | CA606188105 | OTOGL | c.850_851insCATCGCTATGTTTGCA (p.Asn284ThrfsTer7) n.1510_1511insCATCGCTATGTTTGCA c.823_824insCATCGCTATGTTTGCA (p.Asn275ThrfsTer7) c.874_875insCATCGCTATGTTTGCA (p.Asn292ThrfsTer7) c.721_722insCATCGCTATGTTTGCA (p.Asn241ThrfsTer7) c.508_509insCATCGCTATGTTTGCA (p.Asn170ThrfsTer7) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.80238883_80238885delinsAAT | CA2049153202 | OTOGL | c.850_852delinsAAT (p.Asn284=) n.1510_1512delinsAAT c.823_825delinsAAT (p.Asn275=) c.874_876delinsAAT (p.Asn292=) c.721_723delinsAAT (p.Asn241=) c.508_510delinsAAT (p.Asn170=) | |
| 12 | g.80238884A>C | CA385850054 | OTOGL | c.851A>C (p.Asn284Thr) n.1511A>C c.824A>C (p.Asn275Thr) c.875A>C (p.Asn292Thr) c.722A>C (p.Asn241Thr) c.509A>C (p.Asn170Thr) | gnomAD v4 |
| 12 | g.80238884A>G | CA385850055 | OTOGL | c.851A>G (p.Asn284Ser) n.1511A>G c.824A>G (p.Asn275Ser) c.875A>G (p.Asn292Ser) c.722A>G (p.Asn241Ser) c.509A>G (p.Asn170Ser) | gnomAD v4 |
| 12 | g.80238884A>T | CA385850056 | OTOGL | c.851A>T (p.Asn284Ile) n.1511A>T c.824A>T (p.Asn275Ile) c.875A>T (p.Asn292Ile) c.722A>T (p.Asn241Ile) c.509A>T (p.Asn170Ile) | |
| 12 | g.80238884_80238885insCA | CA606188106 | OTOGL | c.851_852insCA (p.Ser285IlefsTer?) n.1511_1512insCA c.824_825insCA (p.Ser276IlefsTer?) c.875_876insCA (p.Ser293IlefsTer?) c.722_723insCA (p.Ser242IlefsTer?) c.509_510insCA (p.Ser171IlefsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.80238885_80238886del | CA2049153203 | OTOGL | c.852_853del (p.Asn284LysfsTer9) n.1512_1513del c.825_826del (p.Asn275LysfsTer9) c.876_877del (p.Asn292LysfsTer9) c.723_724del (p.Asn241LysfsTer9) c.510_511del (p.Asn170LysfsTer9) | dbSNP |
| 12 | g.80238884_80238885insCATATTTAACATAT | CA2620008257 | OTOGL | c.851_852insCATATTTAACATAT (p.Ser285IlefsTer?) n.1511_1512insCATATTTAACATAT c.824_825insCATATTTAACATAT (p.Ser276IlefsTer?) c.875_876insCATATTTAACATAT (p.Ser293IlefsTer?) c.722_723insCATATTTAACATAT (p.Ser242IlefsTer?) c.509_510insCATATTTAACATAT (p.Ser171IlefsTer?) | gnomAD v4 |
| 12 | g.80238884_80238885insCATATTTAACATATTAAG | CA2620008256 | OTOGL | c.851_852insCATATTTAACATATTAAG (p.Asn284_Ser285insIlePheAsnIleLeuSer) n.1511_1512insCATATTTAACATATTAAG c.824_825insCATATTTAACATATTAAG (p.Asn275_Ser276insIlePheAsnIleLeuSer) c.875_876insCATATTTAACATATTAAG (p.Asn292_Ser293insIlePheAsnIleLeuSer) c.722_723insCATATTTAACATATTAAG (p.Asn241_Ser242insIlePheAsnIleLeuSer) c.509_510insCATATTTAACATATTAAG (p.Asn170_Ser171insIlePheAsnIleLeuSer) | gnomAD v4 |
| 12 | g.80238884_80238885insCATATTTAACATATTAAGTAAATATTTC | CA2620008258 | OTOGL | c.851_852insCATATTTAACATATTAAGTAAATATTTC (p.Ser285IlefsTer10) n.1511_1512insCATATTTAACATATTAAGTAAATATTTC c.824_825insCATATTTAACATATTAAGTAAATATTTC (p.Ser276IlefsTer10) c.875_876insCATATTTAACATATTAAGTAAATATTTC (p.Ser293IlefsTer10) c.722_723insCATATTTAACATATTAAGTAAATATTTC (p.Ser242IlefsTer10) c.509_510insCATATTTAACATATTAAGTAAATATTTC (p.Ser171IlefsTer10) | gnomAD v4 |
| 12 | g.80238884_80238885insCATATTTAACATATTAAGTAAATATTTCT | CA2620008249 | OTOGL | c.851_852insCATATTTAACATATTAAGTAAATATTTCT (p.Ser285IlefsTer?) n.1511_1512insCATATTTAACATATTAAGTAAATATTTCT c.824_825insCATATTTAACATATTAAGTAAATATTTCT (p.Ser276IlefsTer?) c.875_876insCATATTTAACATATTAAGTAAATATTTCT (p.Ser293IlefsTer?) c.722_723insCATATTTAACATATTAAGTAAATATTTCT (p.Ser242IlefsTer?) c.509_510insCATATTTAACATATTAAGTAAATATTTCT (p.Ser171IlefsTer?) | gnomAD v4 |
| 12 | g.80238884_80238885insCATATTTAACATATTAAGTAAATATTTCTTAACAGGTG | CA2620008250 | OTOGL | c.851_852insCATATTTAACATATTAAGTAAATATTTCTTAACAGGTG (p.Ser285IlefsTer?) n.1511_1512insCATATTTAACATATTAAGTAAATATTTCTTAACAGGTG c.824_825insCATATTTAACATATTAAGTAAATATTTCTTAACAGGTG (p.Ser276IlefsTer?) c.875_876insCATATTTAACATATTAAGTAAATATTTCTTAACAGGTG (p.Ser293IlefsTer?) c.722_723insCATATTTAACATATTAAGTAAATATTTCTTAACAGGTG (p.Ser242IlefsTer?) c.509_510insCATATTTAACATATTAAGTAAATATTTCTTAACAGGTG (p.Ser171IlefsTer?) | gnomAD v4 |
| 12 | g.80238884_80238885insCATATTTAACATATTAAGTAAATATTTCTTAACAGGTGTATT | CA2620008251 | OTOGL | c.851_852insCATATTTAACATATTAAGTAAATATTTCTTAACAGGTGTATT (p.Asn284_Ser285insIlePheAsnIleLeuSerLysTyrPheLeuThrGlyValPhe) n.1511_1512insCATATTTAACATATTAAGTAAATATTTCTTAACAGGTGTATT c.824_825insCATATTTAACATATTAAGTAAATATTTCTTAACAGGTGTATT (p.Asn275_Ser276insIlePheAsnIleLeuSerLysTyrPheLeuThrGlyValPhe) c.875_876insCATATTTAACATATTAAGTAAATATTTCTTAACAGGTGTATT (p.Asn292_Ser293insIlePheAsnIleLeuSerLysTyrPheLeuThrGlyValPhe) c.722_723insCATATTTAACATATTAAGTAAATATTTCTTAACAGGTGTATT (p.Asn241_Ser242insIlePheAsnIleLeuSerLysTyrPheLeuThrGlyValPhe) c.509_510insCATATTTAACATATTAAGTAAATATTTCTTAACAGGTGTATT (p.Asn170_Ser171insIlePheAsnIleLeuSerLysTyrPheLeuThrGlyValPhe) | gnomAD v4 |
| 12 | g.80238884_80238885insCATATTTAACATATTAAGTAAATATTTCTTAACAGGTGTATTTATGT | CA2620008252 | OTOGL | c.851_852insCATATTTAACATATTAAGTAAATATTTCTTAACAGGTGTATTTATGT (p.Ser285IlefsTer?) n.1511_1512insCATATTTAACATATTAAGTAAATATTTCTTAACAGGTGTATTTATGT c.824_825insCATATTTAACATATTAAGTAAATATTTCTTAACAGGTGTATTTATGT (p.Ser276IlefsTer?) c.875_876insCATATTTAACATATTAAGTAAATATTTCTTAACAGGTGTATTTATGT (p.Ser293IlefsTer?) c.722_723insCATATTTAACATATTAAGTAAATATTTCTTAACAGGTGTATTTATGT (p.Ser242IlefsTer?) c.509_510insCATATTTAACATATTAAGTAAATATTTCTTAACAGGTGTATTTATGT (p.Ser171IlefsTer?) | gnomAD v4 |
| 12 | g.80238884_80238885insCATATTTAACATATTAAGTAAATATTTCTTAACAGGTGTATTTATGTTATTC | CA2620008253 | OTOGL | c.851_852insCATATTTAACATATTAAGTAAATATTTCTTAACAGGTGTATTTATGTTATTC (p.Ser285IlefsTer18) n.1511_1512insCATATTTAACATATTAAGTAAATATTTCTTAACAGGTGTATTTATGTTATTC c.824_825insCATATTTAACATATTAAGTAAATATTTCTTAACAGGTGTATTTATGTTATTC (p.Ser276IlefsTer18) c.875_876insCATATTTAACATATTAAGTAAATATTTCTTAACAGGTGTATTTATGTTATTC (p.Ser293IlefsTer18) c.722_723insCATATTTAACATATTAAGTAAATATTTCTTAACAGGTGTATTTATGTTATTC (p.Ser242IlefsTer18) c.509_510insCATATTTAACATATTAAGTAAATATTTCTTAACAGGTGTATTTATGTTATTC (p.Ser171IlefsTer18) | gnomAD v4 |
| 12 | g.80238884_80238885insCATATTTAACATATTAAGTAAATATTTCTTAACAGGTGTATTTATGTTATTCTAGGTAGAAGTGGATTCCATTGTTGTGCCTTTGCCC | CA2620008254 | OTOGL | c.851_852insCATATTTAACATATTAAGTAAATATTTCTTAACAGGTGTATTTATGTTATTCTAGGTAGAAGTGGATTCCATTGTTGTGCCTTTGCCC (p.Ser285IlefsTer18) n.1511_1512insCATATTTAACATATTAAGTAAATATTTCTTAACAGGTGTATTTATGTTATTCTAGGTAGAAGTGGATTCCATTGTTGTGCCTTTGCCC c.824_825insCATATTTAACATATTAAGTAAATATTTCTTAACAGGTGTATTTATGTTATTCTAGGTAGAAGTGGATTCCATTGTTGTGCCTTTGCCC (p.Ser276IlefsTer18) c.875_876insCATATTTAACATATTAAGTAAATATTTCTTAACAGGTGTATTTATGTTATTCTAGGTAGAAGTGGATTCCATTGTTGTGCCTTTGCCC (p.Ser293IlefsTer18) c.722_723insCATATTTAACATATTAAGTAAATATTTCTTAACAGGTGTATTTATGTTATTCTAGGTAGAAGTGGATTCCATTGTTGTGCCTTTGCCC (p.Ser242IlefsTer18) c.509_510insCATATTTAACATATTAAGTAAATATTTCTTAACAGGTGTATTTATGTTATTCTAGGTAGAAGTGGATTCCATTGTTGTGCCTTTGCCC (p.Ser171IlefsTer18) | gnomAD v4 |