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 |
|---|---|---|---|---|---|
| 16 | g.89270818_89270835delinsTTCATGCGGTCATACTTG | CA2241596174 | ANKRD11 | c.7788_7805delinsCAAGTATGACCGCATGAA (p.Asp2596=) c.*7591_*7608delinsCAAGTATGACCGCATGAA (n.*7591_*7608delinsCAAGTATGACCGCATGAA) c.1062_1079delinsCAAGTATGACCGCATGAA (p.Asp354=) c.469_486delinsCAAGTATGACCGCATGAA c.7686_7703delinsCAAGTATGACCGCATGAA (p.Asp2562=) c.7491_7508delinsCAAGTATGACCGCATGAA (p.Asp2497=) c.7659_7676delinsCAAGTATGACCGCATGAA (p.Asp2553=) | |
| 16 | g.89270823_89270839del | CA16620301 | ANKRD11 | c.7788_7804del (p.Asp2596GlufsTer?) c.*7591_*7607del (n.*7591_*7607del) c.1062_1078del (p.Asp354GlufsTer?) c.469_485del c.7686_7702del (p.Asp2562GlufsTer?) c.7491_7507del (p.Asp2497GlufsTer?) c.7659_7675del (p.Asp2553GlufsTer?) c.7788_7804del (p.Asp2596GlufsTer25) | ClinVar dbSNP |
| 16 | g.89270824C>A | CA397146336 | ANKRD11 | c.7799G>T (p.Arg2600Leu) c.*7602G>T (n.*7602G>T) c.1073G>T (p.Arg358Leu) c.480G>T c.7697G>T (p.Arg2566Leu) c.7502G>T (p.Arg2501Leu) c.7670G>T (p.Arg2557Leu) | |
| 16 | g.89270824C= | CA2241596178 | ANKRD11 | c.7799G= (p.Arg2600=) c.*7602G= (n.*7602G=) c.1073G= (p.Arg358=) c.480G= c.7697G= (p.Arg2566=) c.7502G= (p.Arg2501=) c.7670G= (p.Arg2557=) | |
| 16 | g.89270824C>G | CA397146339 | ANKRD11 | c.7799G>C (p.Arg2600Pro) c.*7602G>C (n.*7602G>C) c.1073G>C (p.Arg358Pro) c.480G>C c.7697G>C (p.Arg2566Pro) c.7502G>C (p.Arg2501Pro) c.7670G>C (p.Arg2557Pro) | |
| 16 | g.89270824C>T | CA397146335 | ANKRD11 | c.7799G>A (p.Arg2600His) c.*7602G>A (n.*7602G>A) c.1073G>A (p.Arg358His) c.480G>A c.7697G>A (p.Arg2566His) c.7502G>A (p.Arg2501His) c.7670G>A (p.Arg2557His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89270825G>A | CA397146341 | ANKRD11 | c.7798C>T (p.Arg2600Cys) c.*7601C>T (n.*7601C>T) c.1072C>T (p.Arg358Cys) c.479C>T c.7696C>T (p.Arg2566Cys) c.7501C>T (p.Arg2501Cys) c.7669C>T (p.Arg2557Cys) | gnomAD v4 |
| 16 | g.89270825G>C | CA397146343 | ANKRD11 | c.7798C>G (p.Arg2600Gly) c.*7601C>G (n.*7601C>G) c.1072C>G (p.Arg358Gly) c.479C>G c.7696C>G (p.Arg2566Gly) c.7501C>G (p.Arg2501Gly) c.7669C>G (p.Arg2557Gly) | |
| 16 | g.89270825G>T | CA397146344 | ANKRD11 | c.7798C>A (p.Arg2600Ser) c.*7601C>A (n.*7601C>A) c.1072C>A (p.Arg358Ser) c.479C>A c.7696C>A (p.Arg2566Ser) c.7501C>A (p.Arg2501Ser) c.7669C>A (p.Arg2557Ser) | |
| 16 | g.89270826G>A | CA497166175 | ANKRD11 | c.7797C>T (p.Asp2599=) c.*7600C>T (n.*7600C>T) c.1071C>T (p.Asp357=) c.478C>T c.7695C>T (p.Asp2565=) c.7500C>T (p.Asp2500=) c.7668C>T (p.Asp2556=) | |
| 16 | g.89270826G>C | CA397146347 | ANKRD11 | c.7797C>G (p.Asp2599Glu) c.*7600C>G (n.*7600C>G) c.1071C>G (p.Asp357Glu) c.478C>G c.7695C>G (p.Asp2565Glu) c.7500C>G (p.Asp2500Glu) c.7668C>G (p.Asp2556Glu) | |
| 16 | g.89270826G>T | CA397146349 | ANKRD11 | c.7797C>A (p.Asp2599Glu) c.*7600C>A (n.*7600C>A) c.1071C>A (p.Asp357Glu) c.478C>A c.7695C>A (p.Asp2565Glu) c.7500C>A (p.Asp2500Glu) c.7668C>A (p.Asp2556Glu) | gnomAD v4 |
| 16 | g.89270827T>A | CA397146354 | ANKRD11 | c.7796A>T (p.Asp2599Val) c.*7599A>T (n.*7599A>T) c.1070A>T (p.Asp357Val) c.477A>T c.7694A>T (p.Asp2565Val) c.7499A>T (p.Asp2500Val) c.7667A>T (p.Asp2556Val) | |
| 16 | g.89270827T>C | CA397146351 | ANKRD11 | c.7796A>G (p.Asp2599Gly) c.*7599A>G (n.*7599A>G) c.1070A>G (p.Asp357Gly) c.477A>G c.7694A>G (p.Asp2565Gly) c.7499A>G (p.Asp2500Gly) c.7667A>G (p.Asp2556Gly) | |
| 16 | g.89270827T>G | CA397146353 | ANKRD11 | c.7796A>C (p.Asp2599Ala) c.*7599A>C (n.*7599A>C) c.1070A>C (p.Asp357Ala) c.477A>C c.7694A>C (p.Asp2565Ala) c.7499A>C (p.Asp2500Ala) c.7667A>C (p.Asp2556Ala) | |
| 16 | g.89270828C>A | CA397146357 | ANKRD11 | c.7795G>T (p.Asp2599Tyr) c.*7598G>T (n.*7598G>T) c.1069G>T (p.Asp357Tyr) c.476G>T c.7693G>T (p.Asp2565Tyr) c.7498G>T (p.Asp2500Tyr) c.7666G>T (p.Asp2556Tyr) | |
| 16 | g.89270828C= | CA2241596179 | ANKRD11 | c.7795G= (p.Asp2599=) c.*7598G= (n.*7598G=) c.1069G= (p.Asp357=) c.476G= c.7693G= (p.Asp2565=) c.7498G= (p.Asp2500=) c.7666G= (p.Asp2556=) | |
| 16 | g.89270828C>G | CA397146359 | ANKRD11 | c.7795G>C (p.Asp2599His) c.*7598G>C (n.*7598G>C) c.1069G>C (p.Asp357His) c.476G>C c.7693G>C (p.Asp2565His) c.7498G>C (p.Asp2500His) c.7666G>C (p.Asp2556His) | |
| 16 | g.89270828C>T | CA397146361 | ANKRD11 | c.7795G>A (p.Asp2599Asn) c.*7598G>A (n.*7598G>A) c.1069G>A (p.Asp357Asn) c.476G>A c.7693G>A (p.Asp2565Asn) c.7498G>A (p.Asp2500Asn) c.7666G>A (p.Asp2556Asn) | dbSNP gnomAD v2 |
| 16 | g.89270829A>C | CA397146363 | ANKRD11 | c.7794T>G (p.Tyr2598Ter) c.*7597T>G (n.*7597T>G) c.1068T>G (p.Tyr356Ter) c.475T>G c.7692T>G (p.Tyr2564Ter) c.7497T>G (p.Tyr2499Ter) c.7665T>G (p.Tyr2555Ter) | |
| 16 | g.89270829A>G | CA497166185 | ANKRD11 | c.7794T>C (p.Tyr2598=) c.*7597T>C (n.*7597T>C) c.1068T>C (p.Tyr356=) c.475T>C c.7692T>C (p.Tyr2564=) c.7497T>C (p.Tyr2499=) c.7665T>C (p.Tyr2555=) | gnomAD v4 |
| 16 | g.89270829A>T | CA397146364 | ANKRD11 | c.7794T>A (p.Tyr2598Ter) c.*7597T>A (n.*7597T>A) c.1068T>A (p.Tyr356Ter) c.475T>A c.7692T>A (p.Tyr2564Ter) c.7497T>A (p.Tyr2499Ter) c.7665T>A (p.Tyr2555Ter) | |
| 16 | g.89270830T>A | CA397146366 | ANKRD11 | c.7793A>T (p.Tyr2598Phe) c.*7596A>T (n.*7596A>T) c.1067A>T (p.Tyr356Phe) c.474A>T c.7691A>T (p.Tyr2564Phe) c.7496A>T (p.Tyr2499Phe) c.7664A>T (p.Tyr2555Phe) | |
| 16 | g.89270830T>C | CA397146370 | ANKRD11 | c.7793A>G (p.Tyr2598Cys) c.*7596A>G (n.*7596A>G) c.1067A>G (p.Tyr356Cys) c.474A>G c.7691A>G (p.Tyr2564Cys) c.7496A>G (p.Tyr2499Cys) c.7664A>G (p.Tyr2555Cys) | |
| 16 | g.89270830T>G | CA397146368 | ANKRD11 | c.7793A>C (p.Tyr2598Ser) c.*7596A>C (n.*7596A>C) c.1067A>C (p.Tyr356Ser) c.474A>C c.7691A>C (p.Tyr2564Ser) c.7496A>C (p.Tyr2499Ser) c.7664A>C (p.Tyr2555Ser) | |
| 16 | g.89270831A>C | CA397146373 | ANKRD11 | c.7792T>G (p.Tyr2598Asp) c.*7595T>G (n.*7595T>G) c.1066T>G (p.Tyr356Asp) c.473T>G c.7690T>G (p.Tyr2564Asp) c.7495T>G (p.Tyr2499Asp) c.7663T>G (p.Tyr2555Asp) | |
| 16 | g.89270831A>G | CA397146375 | ANKRD11 | c.7792T>C (p.Tyr2598His) c.*7595T>C (n.*7595T>C) c.1066T>C (p.Tyr356His) c.473T>C c.7690T>C (p.Tyr2564His) c.7495T>C (p.Tyr2499His) c.7663T>C (p.Tyr2555His) | |
| 16 | g.89270831A>T | CA397146374 | ANKRD11 | c.7792T>A (p.Tyr2598Asn) c.*7595T>A (n.*7595T>A) c.1066T>A (p.Tyr356Asn) c.473T>A c.7690T>A (p.Tyr2564Asn) c.7495T>A (p.Tyr2499Asn) c.7663T>A (p.Tyr2555Asn) | |
| 16 | g.89270832C>A | CA397146378 | ANKRD11 | c.7791G>T (p.Lys2597Asn) c.*7594G>T (n.*7594G>T) c.1065G>T (p.Lys355Asn) c.472G>T c.7689G>T (p.Lys2563Asn) c.7494G>T (p.Lys2498Asn) c.7662G>T (p.Lys2554Asn) | |
| 16 | g.89270832C>G | CA397146380 | ANKRD11 | c.7791G>C (p.Lys2597Asn) c.*7594G>C (n.*7594G>C) c.1065G>C (p.Lys355Asn) c.472G>C c.7689G>C (p.Lys2563Asn) c.7494G>C (p.Lys2498Asn) c.7662G>C (p.Lys2554Asn) | |
| 16 | g.89270832C>T | CA497166194 | ANKRD11 | c.7791G>A (p.Lys2597=) c.*7594G>A (n.*7594G>A) c.1065G>A (p.Lys355=) c.472G>A c.7689G>A (p.Lys2563=) c.7494G>A (p.Lys2498=) c.7662G>A (p.Lys2554=) | |
| 16 | g.89270833T>A | CA397146383 | ANKRD11 | c.7790A>T (p.Lys2597Met) c.*7593A>T (n.*7593A>T) c.1064A>T (p.Lys355Met) c.471A>T c.7688A>T (p.Lys2563Met) c.7493A>T (p.Lys2498Met) c.7661A>T (p.Lys2554Met) | |
| 16 | g.89270833T>C | CA397146384 | ANKRD11 | c.7790A>G (p.Lys2597Arg) c.*7593A>G (n.*7593A>G) c.1064A>G (p.Lys355Arg) c.471A>G c.7688A>G (p.Lys2563Arg) c.7493A>G (p.Lys2498Arg) c.7661A>G (p.Lys2554Arg) | |
| 16 | g.89270833T>G | CA397146386 | ANKRD11 | c.7790A>C (p.Lys2597Thr) c.*7593A>C (n.*7593A>C) c.1064A>C (p.Lys355Thr) c.471A>C c.7688A>C (p.Lys2563Thr) c.7493A>C (p.Lys2498Thr) c.7661A>C (p.Lys2554Thr) | |
| 16 | g.89270834T>A | CA397146388 | ANKRD11 | c.7789A>T (p.Lys2597Ter) c.*7592A>T (n.*7592A>T) c.1063A>T (p.Lys355Ter) c.470A>T c.7687A>T (p.Lys2563Ter) c.7492A>T (p.Lys2498Ter) c.7660A>T (p.Lys2554Ter) | ClinVar dbSNP |
| 16 | g.89270834T>C | CA397146390 | ANKRD11 | c.7789A>G (p.Lys2597Glu) c.*7592A>G (n.*7592A>G) c.1063A>G (p.Lys355Glu) c.470A>G c.7687A>G (p.Lys2563Glu) c.7492A>G (p.Lys2498Glu) c.7660A>G (p.Lys2554Glu) | |
| 16 | g.89270834T>G | CA397146393 | ANKRD11 | c.7789A>C (p.Lys2597Gln) c.*7592A>C (n.*7592A>C) c.1063A>C (p.Lys355Gln) c.470A>C c.7687A>C (p.Lys2563Gln) c.7492A>C (p.Lys2498Gln) c.7660A>C (p.Lys2554Gln) | |
| 16 | g.89270834T= | CA2241596180 | ANKRD11 | c.7789A= (p.Lys2597=) c.*7592A= (n.*7592A=) c.1063A= (p.Lys355=) c.470A= c.7687A= (p.Lys2563=) c.7492A= (p.Lys2498=) c.7660A= (p.Lys2554=) | |
| 16 | g.89270835G>A | CA497166199 | ANKRD11 | c.7788C>T (p.Asp2596=) c.*7591C>T (n.*7591C>T) c.1062C>T (p.Asp354=) c.469C>T c.7686C>T (p.Asp2562=) c.7491C>T (p.Asp2497=) c.7659C>T (p.Asp2553=) | gnomAD v4 |
| 16 | g.89270835G>C | CA397146394 | ANKRD11 | c.7788C>G (p.Asp2596Glu) c.*7591C>G (n.*7591C>G) c.1062C>G (p.Asp354Glu) c.469C>G c.7686C>G (p.Asp2562Glu) c.7491C>G (p.Asp2497Glu) c.7659C>G (p.Asp2553Glu) | |
| 16 | g.89270835G>T | CA397146395 | ANKRD11 | c.7788C>A (p.Asp2596Glu) c.*7591C>A (n.*7591C>A) c.1062C>A (p.Asp354Glu) c.469C>A c.7686C>A (p.Asp2562Glu) c.7491C>A (p.Asp2497Glu) c.7659C>A (p.Asp2553Glu) | |
| 16 | g.89270836T>A | CA397146398 | ANKRD11 | c.7787A>T (p.Asp2596Val) c.*7590A>T (n.*7590A>T) c.1061A>T (p.Asp354Val) c.468A>T c.7685A>T (p.Asp2562Val) c.7490A>T (p.Asp2497Val) c.7658A>T (p.Asp2553Val) | |
| 16 | g.89270836T>C | CA397146400 | ANKRD11 | c.7787A>G (p.Asp2596Gly) c.*7590A>G (n.*7590A>G) c.1061A>G (p.Asp354Gly) c.468A>G c.7685A>G (p.Asp2562Gly) c.7490A>G (p.Asp2497Gly) c.7658A>G (p.Asp2553Gly) | |
| 16 | g.89270836T>G | CA397146402 | ANKRD11 | c.7787A>C (p.Asp2596Ala) c.*7590A>C (n.*7590A>C) c.1061A>C (p.Asp354Ala) c.468A>C c.7685A>C (p.Asp2562Ala) c.7490A>C (p.Asp2497Ala) c.7658A>C (p.Asp2553Ala) | |
| 16 | g.89270837C>A | CA397146408 | ANKRD11 | c.7786G>T (p.Asp2596Tyr) c.*7589G>T (n.*7589G>T) c.1060G>T (p.Asp354Tyr) c.467G>T c.7684G>T (p.Asp2562Tyr) c.7489G>T (p.Asp2497Tyr) c.7657G>T (p.Asp2553Tyr) | COSMIC |
| 16 | g.89270837C= | CA2241596181 | ANKRD11 | c.7786G= (p.Asp2596=) c.*7589G= (n.*7589G=) c.1060G= (p.Asp354=) c.467G= c.7684G= (p.Asp2562=) c.7489G= (p.Asp2497=) c.7657G= (p.Asp2553=) | |
| 16 | g.89270837C>G | CA397146406 | ANKRD11 | c.7786G>C (p.Asp2596His) c.*7589G>C (n.*7589G>C) c.1060G>C (p.Asp354His) c.467G>C c.7684G>C (p.Asp2562His) c.7489G>C (p.Asp2497His) c.7657G>C (p.Asp2553His) | |
| 16 | g.89270837C>T | CA397146404 | ANKRD11 | c.7786G>A (p.Asp2596Asn) c.*7589G>A (n.*7589G>A) c.1060G>A (p.Asp354Asn) c.467G>A c.7684G>A (p.Asp2562Asn) c.7489G>A (p.Asp2497Asn) c.7657G>A (p.Asp2553Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.89270838A>C | CA397146409 | ANKRD11 | c.7785T>G (p.Asp2595Glu) c.*7588T>G (n.*7588T>G) c.1059T>G (p.Asp353Glu) c.466T>G c.7683T>G (p.Asp2561Glu) c.7488T>G (p.Asp2496Glu) c.7656T>G (p.Asp2552Glu) | |
| 16 | g.89270838A>G | CA497166209 | ANKRD11 | c.7785T>C (p.Asp2595=) c.*7588T>C (n.*7588T>C) c.1059T>C (p.Asp353=) c.466T>C c.7683T>C (p.Asp2561=) c.7488T>C (p.Asp2496=) c.7656T>C (p.Asp2552=) |