WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.89279364G>A | CA397149054 | ANKRD11 | c.7178C>T (p.Thr2393Ile) c.*6981C>T (n.*6981C>T) c.745-4173C>T (n.745-4173C>T) c.152-4173C>T n.353C>T c.7076C>T (p.Thr2359Ile) c.6881C>T (p.Thr2294Ile) c.7049C>T (p.Thr2350Ile) | gnomAD v4 |
| 16 | g.89279364G>C | CA397149058 | ANKRD11 | c.7178C>G (p.Thr2393Ser) c.*6981C>G (n.*6981C>G) c.745-4173C>G (n.745-4173C>G) c.152-4173C>G n.353C>G c.7076C>G (p.Thr2359Ser) c.6881C>G (p.Thr2294Ser) c.7049C>G (p.Thr2350Ser) | dbSNP gnomAD v4 |
| 16 | g.89279364G= | CA2241586667 | ANKRD11 | c.7178C= (p.Thr2393=) c.*6981C= (n.*6981C=) c.745-4173C= (n.745-4173C=) c.152-4173C= n.353C= c.7076C= (p.Thr2359=) c.6881C= (p.Thr2294=) c.7049C= (p.Thr2350=) | |
| 16 | g.89279364G>T | CA397149056 | ANKRD11 | c.7178C>A (p.Thr2393Asn) c.*6981C>A (n.*6981C>A) c.745-4173C>A (n.745-4173C>A) c.152-4173C>A n.353C>A c.7076C>A (p.Thr2359Asn) c.6881C>A (p.Thr2294Asn) c.7049C>A (p.Thr2350Asn) | dbSNP gnomAD v4 |
| 16 | g.89279365T>A | CA397149059 | ANKRD11 | c.7177A>T (p.Thr2393Ser) c.*6980A>T (n.*6980A>T) c.745-4174A>T (n.745-4174A>T) c.152-4174A>T n.352A>T c.7075A>T (p.Thr2359Ser) c.6880A>T (p.Thr2294Ser) c.7048A>T (p.Thr2350Ser) | |
| 16 | g.89279365T>C | CA397149060 | ANKRD11 | c.7177A>G (p.Thr2393Ala) c.*6980A>G (n.*6980A>G) c.745-4174A>G (n.745-4174A>G) c.152-4174A>G n.352A>G c.7075A>G (p.Thr2359Ala) c.6880A>G (p.Thr2294Ala) c.7048A>G (p.Thr2350Ala) | |
| 16 | g.89279365T>G | CA397149062 | ANKRD11 | c.7177A>C (p.Thr2393Pro) c.*6980A>C (n.*6980A>C) c.745-4174A>C (n.745-4174A>C) c.152-4174A>C n.352A>C c.7075A>C (p.Thr2359Pro) c.6880A>C (p.Thr2294Pro) c.7048A>C (p.Thr2350Pro) | |
| 16 | g.89279366G>A | CA497372543 | ANKRD11 | c.7176C>T (p.Ser2392=) c.*6979C>T (n.*6979C>T) c.745-4175C>T (n.745-4175C>T) c.152-4175C>T n.351C>T c.7074C>T (p.Ser2358=) c.6879C>T (p.Ser2293=) c.7047C>T (p.Ser2349=) | gnomAD v4 |
| 16 | g.89279366G>C | CA497372546 | ANKRD11 | c.7176C>G (p.Ser2392=) c.*6979C>G (n.*6979C>G) c.745-4175C>G (n.745-4175C>G) c.152-4175C>G n.351C>G c.7074C>G (p.Ser2358=) c.6879C>G (p.Ser2293=) c.7047C>G (p.Ser2349=) | |
| 16 | g.89279366G>T | CA497372548 | ANKRD11 | c.7176C>A (p.Ser2392=) c.*6979C>A (n.*6979C>A) c.745-4175C>A (n.745-4175C>A) c.152-4175C>A n.351C>A c.7074C>A (p.Ser2358=) c.6879C>A (p.Ser2293=) c.7047C>A (p.Ser2349=) | |
| 16 | g.89279367G>A | CA397149064 | ANKRD11 | c.7175C>T (p.Ser2392Phe) c.*6978C>T (n.*6978C>T) c.745-4176C>T (n.745-4176C>T) c.152-4176C>T n.350C>T c.7073C>T (p.Ser2358Phe) c.6878C>T (p.Ser2293Phe) c.7046C>T (p.Ser2349Phe) | |
| 16 | g.89279367G>C | CA397149066 | ANKRD11 | c.7175C>G (p.Ser2392Cys) c.*6978C>G (n.*6978C>G) c.745-4176C>G (n.745-4176C>G) c.152-4176C>G n.350C>G c.7073C>G (p.Ser2358Cys) c.6878C>G (p.Ser2293Cys) c.7046C>G (p.Ser2349Cys) | |
| 16 | g.89279367G>T | CA397149067 | ANKRD11 | c.7175C>A (p.Ser2392Tyr) c.*6978C>A (n.*6978C>A) c.745-4176C>A (n.745-4176C>A) c.152-4176C>A n.350C>A c.7073C>A (p.Ser2358Tyr) c.6878C>A (p.Ser2293Tyr) c.7046C>A (p.Ser2349Tyr) | |
| 16 | g.89279368A>C | CA397149069 | ANKRD11 | c.7174T>G (p.Ser2392Ala) c.*6977T>G (n.*6977T>G) c.745-4177T>G (n.745-4177T>G) c.152-4177T>G n.349T>G c.7072T>G (p.Ser2358Ala) c.6877T>G (p.Ser2293Ala) c.7045T>G (p.Ser2349Ala) | |
| 16 | g.89279368A>G | CA397149070 | ANKRD11 | c.7174T>C (p.Ser2392Pro) c.*6977T>C (n.*6977T>C) c.745-4177T>C (n.745-4177T>C) c.152-4177T>C n.349T>C c.7072T>C (p.Ser2358Pro) c.6877T>C (p.Ser2293Pro) c.7045T>C (p.Ser2349Pro) | gnomAD v4 |
| 16 | g.89279368A>T | CA397149072 | ANKRD11 | c.7174T>A (p.Ser2392Thr) c.*6977T>A (n.*6977T>A) c.745-4177T>A (n.745-4177T>A) c.152-4177T>A n.349T>A c.7072T>A (p.Ser2358Thr) c.6877T>A (p.Ser2293Thr) c.7045T>A (p.Ser2349Thr) | |
| 16 | g.89279369G>A | CA497372553 | ANKRD11 | c.7173C>T (p.Arg2391=) c.*6976C>T (n.*6976C>T) c.745-4178C>T (n.745-4178C>T) c.152-4178C>T n.348C>T c.7071C>T (p.Arg2357=) c.6876C>T (p.Arg2292=) c.7044C>T (p.Arg2348=) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.89279369G>C | CA497372556 | ANKRD11 | c.7173C>G (p.Arg2391=) c.*6976C>G (n.*6976C>G) c.745-4178C>G (n.745-4178C>G) c.152-4178C>G n.348C>G c.7071C>G (p.Arg2357=) c.6876C>G (p.Arg2292=) c.7044C>G (p.Arg2348=) | |
| 16 | g.89279369G= | CA2241586668 | ANKRD11 | c.7173C= (p.Arg2391=) c.*6976C= (n.*6976C=) c.745-4178C= (n.745-4178C=) c.152-4178C= n.348C= c.7071C= (p.Arg2357=) c.6876C= (p.Arg2292=) c.7044C= (p.Arg2348=) | |
| 16 | g.89279369G>T | CA497372558 | ANKRD11 | c.7173C>A (p.Arg2391=) c.*6976C>A (n.*6976C>A) c.745-4178C>A (n.745-4178C>A) c.152-4178C>A n.348C>A c.7071C>A (p.Arg2357=) c.6876C>A (p.Arg2292=) c.7044C>A (p.Arg2348=) | |
| 16 | g.89279370C>A | CA397149074 | ANKRD11 | c.7172G>T (p.Arg2391Leu) c.*6975G>T (n.*6975G>T) c.745-4179G>T (n.745-4179G>T) c.152-4179G>T n.347G>T c.7070G>T (p.Arg2357Leu) c.6875G>T (p.Arg2292Leu) c.7043G>T (p.Arg2348Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.89279370C= | CA2241586669 | ANKRD11 | c.7172G= (p.Arg2391=) c.*6975G= (n.*6975G=) c.745-4179G= (n.745-4179G=) c.152-4179G= n.347G= c.7070G= (p.Arg2357=) c.6875G= (p.Arg2292=) c.7043G= (p.Arg2348=) | |
| 16 | g.89279370C>G | CA397149076 | ANKRD11 | c.7172G>C (p.Arg2391Pro) c.*6975G>C (n.*6975G>C) c.745-4179G>C (n.745-4179G>C) c.152-4179G>C n.347G>C c.7070G>C (p.Arg2357Pro) c.6875G>C (p.Arg2292Pro) c.7043G>C (p.Arg2348Pro) | gnomAD v4 |
| 16 | g.89279370C>T | CA397149078 | ANKRD11 | c.7172G>A (p.Arg2391His) c.*6975G>A (n.*6975G>A) c.745-4179G>A (n.745-4179G>A) c.152-4179G>A n.347G>A c.7070G>A (p.Arg2357His) c.6875G>A (p.Arg2292His) c.7043G>A (p.Arg2348His) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.89279371G>A | CA397149083 | ANKRD11 | c.7171C>T (p.Arg2391Cys) c.*6974C>T (n.*6974C>T) c.745-4180C>T (n.745-4180C>T) c.152-4180C>T n.346C>T c.7069C>T (p.Arg2357Cys) c.6874C>T (p.Arg2292Cys) c.7042C>T (p.Arg2348Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.89279371G>C | CA397149079 | ANKRD11 | c.7171C>G (p.Arg2391Gly) c.*6974C>G (n.*6974C>G) c.745-4180C>G (n.745-4180C>G) c.152-4180C>G n.346C>G c.7069C>G (p.Arg2357Gly) c.6874C>G (p.Arg2292Gly) c.7042C>G (p.Arg2348Gly) | |
| 16 | g.89279371G= | CA2241586670 | ANKRD11 | c.7171C= (p.Arg2391=) c.*6974C= (n.*6974C=) c.745-4180C= (n.745-4180C=) c.152-4180C= n.346C= c.7069C= (p.Arg2357=) c.6874C= (p.Arg2292=) c.7042C= (p.Arg2348=) | |
| 16 | g.89279371G>T | CA397149081 | ANKRD11 | c.7171C>A (p.Arg2391Ser) c.*6974C>A (n.*6974C>A) c.745-4180C>A (n.745-4180C>A) c.152-4180C>A n.346C>A c.7069C>A (p.Arg2357Ser) c.6874C>A (p.Arg2292Ser) c.7042C>A (p.Arg2348Ser) | |
| 16 | g.89279372C>A | CA397149085 | ANKRD11 | c.7170G>T (p.Gln2390His) c.*6973G>T (n.*6973G>T) c.745-4181G>T (n.745-4181G>T) c.152-4181G>T n.345G>T c.7068G>T (p.Gln2356His) c.6873G>T (p.Gln2291His) c.7041G>T (p.Gln2347His) | gnomAD v4 |
| 16 | g.89279372C>G | CA397149086 | ANKRD11 | c.7170G>C (p.Gln2390His) c.*6973G>C (n.*6973G>C) c.745-4181G>C (n.745-4181G>C) c.152-4181G>C n.345G>C c.7068G>C (p.Gln2356His) c.6873G>C (p.Gln2291His) c.7041G>C (p.Gln2347His) | |
| 16 | g.89279372C>T | CA497372562 | ANKRD11 | c.7170G>A (p.Gln2390=) c.*6973G>A (n.*6973G>A) c.745-4181G>A (n.745-4181G>A) c.152-4181G>A n.345G>A c.7068G>A (p.Gln2356=) c.6873G>A (p.Gln2291=) c.7041G>A (p.Gln2347=) | |
| 16 | g.89279373T>A | CA397149089 | ANKRD11 | c.7169A>T (p.Gln2390Leu) c.*6972A>T (n.*6972A>T) c.745-4182A>T (n.745-4182A>T) c.152-4182A>T n.344A>T c.7067A>T (p.Gln2356Leu) c.6872A>T (p.Gln2291Leu) c.7040A>T (p.Gln2347Leu) | |
| 16 | g.89279373T>C | CA397149091 | ANKRD11 | c.7169A>G (p.Gln2390Arg) c.*6972A>G (n.*6972A>G) c.745-4182A>G (n.745-4182A>G) c.152-4182A>G n.344A>G c.7067A>G (p.Gln2356Arg) c.6872A>G (p.Gln2291Arg) c.7040A>G (p.Gln2347Arg) | gnomAD v4 |
| 16 | g.89279373T>G | CA397149092 | ANKRD11 | c.7169A>C (p.Gln2390Pro) c.*6972A>C (n.*6972A>C) c.745-4182A>C (n.745-4182A>C) c.152-4182A>C n.344A>C c.7067A>C (p.Gln2356Pro) c.6872A>C (p.Gln2291Pro) c.7040A>C (p.Gln2347Pro) | |
| 16 | g.89279374G>A | CA397149095 | ANKRD11 | c.7168C>T (p.Gln2390Ter) c.*6971C>T (n.*6971C>T) c.745-4183C>T (n.745-4183C>T) c.152-4183C>T n.343C>T c.7066C>T (p.Gln2356Ter) c.6871C>T (p.Gln2291Ter) c.7039C>T (p.Gln2347Ter) | ClinVar dbSNP gnomAD v4 |
| 16 | g.89279374G>C | CA397149097 | ANKRD11 | c.7168C>G (p.Gln2390Glu) c.*6971C>G (n.*6971C>G) c.745-4183C>G (n.745-4183C>G) c.152-4183C>G n.343C>G c.7066C>G (p.Gln2356Glu) c.6871C>G (p.Gln2291Glu) c.7039C>G (p.Gln2347Glu) | |
| 16 | g.89279374G>T | CA397149098 | ANKRD11 | c.7168C>A (p.Gln2390Lys) c.*6971C>A (n.*6971C>A) c.745-4183C>A (n.745-4183C>A) c.152-4183C>A n.343C>A c.7066C>A (p.Gln2356Lys) c.6871C>A (p.Gln2291Lys) c.7039C>A (p.Gln2347Lys) | |
| 16 | g.89279375A= | CA2241586671 | ANKRD11 | c.7167T= (p.Phe2389=) c.*6970T= (n.*6970T=) c.745-4184T= (n.745-4184T=) c.152-4184T= n.342T= c.7065T= (p.Phe2355=) c.6870T= (p.Phe2290=) c.7038T= (p.Phe2346=) | |
| 16 | g.89279375A>C | CA286509471 | ANKRD11 | c.7167T>G (p.Phe2389Leu) c.*6970T>G (n.*6970T>G) c.745-4184T>G (n.745-4184T>G) c.152-4184T>G n.342T>G c.7065T>G (p.Phe2355Leu) c.6870T>G (p.Phe2290Leu) c.7038T>G (p.Phe2346Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89279375A>G | CA497372566 | ANKRD11 | c.7167T>C (p.Phe2389=) c.*6970T>C (n.*6970T>C) c.745-4184T>C (n.745-4184T>C) c.152-4184T>C n.342T>C c.7065T>C (p.Phe2355=) c.6870T>C (p.Phe2290=) c.7038T>C (p.Phe2346=) | gnomAD v4 |
| 16 | g.89279375A>T | CA397149101 | ANKRD11 | c.7167T>A (p.Phe2389Leu) c.*6970T>A (n.*6970T>A) c.745-4184T>A (n.745-4184T>A) c.152-4184T>A n.342T>A c.7065T>A (p.Phe2355Leu) c.6870T>A (p.Phe2290Leu) c.7038T>A (p.Phe2346Leu) | |
| 16 | g.89279377del | CA2576097088 | ANKRD11 | c.7167del (p.Gln2390SerfsTer11) c.*6970del (n.*6970del) c.745-4184del (n.745-4184del) c.152-4184del n.342del c.7065del (p.Gln2356SerfsTer11) c.6870del (p.Gln2291SerfsTer11) c.7038del (p.Gln2347SerfsTer11) | |
| 16 | g.89279376A>C | CA397149107 | ANKRD11 | c.7166T>G (p.Phe2389Cys) c.*6969T>G (n.*6969T>G) c.745-4185T>G (n.745-4185T>G) c.152-4185T>G n.341T>G c.7064T>G (p.Phe2355Cys) c.6869T>G (p.Phe2290Cys) c.7037T>G (p.Phe2346Cys) | |
| 16 | g.89279376A>G | CA397149105 | ANKRD11 | c.7166T>C (p.Phe2389Ser) c.*6969T>C (n.*6969T>C) c.745-4185T>C (n.745-4185T>C) c.152-4185T>C n.341T>C c.7064T>C (p.Phe2355Ser) c.6869T>C (p.Phe2290Ser) c.7037T>C (p.Phe2346Ser) | |
| 16 | g.89279376A>T | CA397149103 | ANKRD11 | c.7166T>A (p.Phe2389Tyr) c.*6969T>A (n.*6969T>A) c.745-4185T>A (n.745-4185T>A) c.152-4185T>A n.341T>A c.7064T>A (p.Phe2355Tyr) c.6869T>A (p.Phe2290Tyr) c.7037T>A (p.Phe2346Tyr) | |
| 16 | g.89279377A>C | CA397149109 | ANKRD11 | c.7165T>G (p.Phe2389Val) c.*6968T>G (n.*6968T>G) c.745-4186T>G (n.745-4186T>G) c.152-4186T>G n.340T>G c.7063T>G (p.Phe2355Val) c.6868T>G (p.Phe2290Val) c.7036T>G (p.Phe2346Val) | gnomAD v4 |
| 16 | g.89279377A>G | CA397149111 | ANKRD11 | c.7165T>C (p.Phe2389Leu) c.*6968T>C (n.*6968T>C) c.745-4186T>C (n.745-4186T>C) c.152-4186T>C n.340T>C c.7063T>C (p.Phe2355Leu) c.6868T>C (p.Phe2290Leu) c.7036T>C (p.Phe2346Leu) | gnomAD v4 |
| 16 | g.89279377A>T | CA397149113 | ANKRD11 | c.7165T>A (p.Phe2389Ile) c.*6968T>A (n.*6968T>A) c.745-4186T>A (n.745-4186T>A) c.152-4186T>A n.340T>A c.7063T>A (p.Phe2355Ile) c.6868T>A (p.Phe2290Ile) c.7036T>A (p.Phe2346Ile) | |
| 16 | g.89279378G>A | CA497372573 | ANKRD11 | c.7164C>T (p.Arg2388=) c.*6967C>T (n.*6967C>T) c.745-4187C>T (n.745-4187C>T) c.152-4187C>T n.339C>T c.7062C>T (p.Arg2354=) c.6867C>T (p.Arg2289=) c.7035C>T (p.Arg2345=) | |
| 16 | g.89279378G>C | CA497372574 | ANKRD11 | c.7164C>G (p.Arg2388=) c.*6967C>G (n.*6967C>G) c.745-4187C>G (n.745-4187C>G) c.152-4187C>G n.339C>G c.7062C>G (p.Arg2354=) c.6867C>G (p.Arg2289=) c.7035C>G (p.Arg2345=) | gnomAD v4 |