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.89270813C>A | CA8241012 | ANKRD11 | c.7806+4G>T (n.7806+4G>T) c.*7609+4G>T (n.*7609+4G>T) c.1080+4G>T (n.1080+4G>T) c.487+4G>T c.7704+4G>T (n.7704+4G>T) c.7509+4G>T (n.7509+4G>T) c.7677+4G>T (n.7677+4G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89270813C= | CA2241596172 | ANKRD11 | c.7806+4G= (n.7806+4G=) c.*7609+4G= (n.*7609+4G=) c.1080+4G= (n.1080+4G=) c.487+4G= c.7704+4G= (n.7704+4G=) c.7509+4G= (n.7509+4G=) c.7677+4G= (n.7677+4G=) | |
| 16 | g.89270813C>G | CA980391008 | ANKRD11 | c.7806+4G>C (n.7806+4G>C) c.*7609+4G>C (n.*7609+4G>C) c.1080+4G>C (n.1080+4G>C) c.487+4G>C c.7704+4G>C (n.7704+4G>C) c.7509+4G>C (n.7509+4G>C) c.7677+4G>C (n.7677+4G>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.89270813C>T | CA8241011 | ANKRD11 | c.7806+4G>A (n.7806+4G>A) c.*7609+4G>A (n.*7609+4G>A) c.1080+4G>A (n.1080+4G>A) c.487+4G>A c.7704+4G>A (n.7704+4G>A) c.7509+4G>A (n.7509+4G>A) c.7677+4G>A (n.7677+4G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89270814G>A | CA8241013 | ANKRD11 | c.7806+3C>T (n.7806+3C>T) c.*7609+3C>T (n.*7609+3C>T) c.1080+3C>T (n.1080+3C>T) c.487+3C>T c.7704+3C>T (n.7704+3C>T) c.7509+3C>T (n.7509+3C>T) c.7677+3C>T (n.7677+3C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.89270814G= | CA2241596173 | ANKRD11 | c.7806+3C= (n.7806+3C=) c.*7609+3C= (n.*7609+3C=) c.1080+3C= (n.1080+3C=) c.487+3C= c.7704+3C= (n.7704+3C=) c.7509+3C= (n.7509+3C=) c.7677+3C= (n.7677+3C=) | |
| 16 | g.89270815A>C | CA397146293 | ANKRD11 | c.7806+2T>G (n.7806+2T>G) c.*7609+2T>G (n.*7609+2T>G) c.1080+2T>G (n.1080+2T>G) c.487+2T>G c.7704+2T>G (n.7704+2T>G) c.7509+2T>G (n.7509+2T>G) c.7677+2T>G (n.7677+2T>G) | |
| 16 | g.89270815A>G | CA397146295 | ANKRD11 | c.7806+2T>C (n.7806+2T>C) c.*7609+2T>C (n.*7609+2T>C) c.1080+2T>C (n.1080+2T>C) c.487+2T>C c.7704+2T>C (n.7704+2T>C) c.7509+2T>C (n.7509+2T>C) c.7677+2T>C (n.7677+2T>C) | |
| 16 | g.89270815A>T | CA397146296 | ANKRD11 | c.7806+2T>A (n.7806+2T>A) c.*7609+2T>A (n.*7609+2T>A) c.1080+2T>A (n.1080+2T>A) c.487+2T>A c.7704+2T>A (n.7704+2T>A) c.7509+2T>A (n.7509+2T>A) c.7677+2T>A (n.7677+2T>A) | |
| 16 | g.89270816C>A | CA397146297 | ANKRD11 | c.7806+1G>T (n.7806+1G>T) c.*7609+1G>T (n.*7609+1G>T) c.1080+1G>T (n.1080+1G>T) c.487+1G>T c.7704+1G>T (n.7704+1G>T) c.7509+1G>T (n.7509+1G>T) c.7677+1G>T (n.7677+1G>T) | ClinVar dbSNP |
| 16 | g.89270816C>G | CA397146299 | ANKRD11 | c.7806+1G>C (n.7806+1G>C) c.*7609+1G>C (n.*7609+1G>C) c.1080+1G>C (n.1080+1G>C) c.487+1G>C c.7704+1G>C (n.7704+1G>C) c.7509+1G>C (n.7509+1G>C) c.7677+1G>C (n.7677+1G>C) | |
| 16 | g.89270816C>T | CA397146301 | ANKRD11 | c.7806+1G>A (n.7806+1G>A) c.*7609+1G>A (n.*7609+1G>A) c.1080+1G>A (n.1080+1G>A) c.487+1G>A c.7704+1G>A (n.7704+1G>A) c.7509+1G>A (n.7509+1G>A) c.7677+1G>A (n.7677+1G>A) | |
| 16 | g.89270817C>A | CA397146303 | ANKRD11 | c.7806G>T (p.Lys2602Asn) c.*7609G>T (n.*7609G>T) c.1080G>T (p.Lys360Asn) c.487G>T c.7704G>T (p.Lys2568Asn) c.7509G>T (p.Lys2503Asn) c.7677G>T (p.Lys2559Asn) | |
| 16 | g.89270817C>G | CA397146305 | ANKRD11 | c.7806G>C (p.Lys2602Asn) c.*7609G>C (n.*7609G>C) c.1080G>C (p.Lys360Asn) c.487G>C c.7704G>C (p.Lys2568Asn) c.7509G>C (p.Lys2503Asn) c.7677G>C (p.Lys2559Asn) | |
| 16 | g.89270817C>T | CA497166149 | ANKRD11 | c.7806G>A (p.Lys2602=) c.*7609G>A (n.*7609G>A) c.1080G>A (p.Lys360=) c.487G>A c.7704G>A (p.Lys2568=) c.7509G>A (p.Lys2503=) c.7677G>A (p.Lys2559=) | |
| 16 | g.89270818T>A | CA397146310 | ANKRD11 | c.7805A>T (p.Lys2602Met) c.*7608A>T (n.*7608A>T) c.1079A>T (p.Lys360Met) c.486A>T c.7703A>T (p.Lys2568Met) c.7508A>T (p.Lys2503Met) c.7676A>T (p.Lys2559Met) | |
| 16 | g.89270818T>C | CA397146308 | ANKRD11 | c.7805A>G (p.Lys2602Arg) c.*7608A>G (n.*7608A>G) c.1079A>G (p.Lys360Arg) c.486A>G c.7703A>G (p.Lys2568Arg) c.7508A>G (p.Lys2503Arg) c.7676A>G (p.Lys2559Arg) | |
| 16 | g.89270818T>G | CA397146307 | ANKRD11 | c.7805A>C (p.Lys2602Thr) c.*7608A>C (n.*7608A>C) c.1079A>C (p.Lys360Thr) c.486A>C c.7703A>C (p.Lys2568Thr) c.7508A>C (p.Lys2503Thr) c.7676A>C (p.Lys2559Thr) | |
| 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.89270819T>A | CA397146312 | ANKRD11 | c.7804A>T (p.Lys2602Ter) c.*7607A>T (n.*7607A>T) c.1078A>T (p.Lys360Ter) c.485A>T c.7702A>T (p.Lys2568Ter) c.7507A>T (p.Lys2503Ter) c.7675A>T (p.Lys2559Ter) | |
| 16 | g.89270819T>C | CA397146314 | ANKRD11 | c.7804A>G (p.Lys2602Glu) c.*7607A>G (n.*7607A>G) c.1078A>G (p.Lys360Glu) c.485A>G c.7702A>G (p.Lys2568Glu) c.7507A>G (p.Lys2503Glu) c.7675A>G (p.Lys2559Glu) | COSMIC |
| 16 | g.89270819T>G | CA397146316 | ANKRD11 | c.7804A>C (p.Lys2602Gln) c.*7607A>C (n.*7607A>C) c.1078A>C (p.Lys360Gln) c.485A>C c.7702A>C (p.Lys2568Gln) c.7507A>C (p.Lys2503Gln) c.7675A>C (p.Lys2559Gln) | |
| 16 | g.89270819T= | CA2241596175 | ANKRD11 | c.7804A= (p.Lys2602=) c.*7607A= (n.*7607A=) c.1078A= (p.Lys360=) c.485A= c.7702A= (p.Lys2568=) c.7507A= (p.Lys2503=) c.7675A= (p.Lys2559=) | |
| 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.89270819_89270820insTCATGCGGTCATACTTG | CA919767466 | ANKRD11 | c.7803_7804insCAAGTATGACCGCATGA (p.Lys2602GlnfsTer3) c.*7606_*7607insCAAGTATGACCGCATGA (n.*7606_*7607insCAAGTATGACCGCATGA) c.1077_1078insCAAGTATGACCGCATGA (p.Lys360GlnfsTer3) c.484_485insCAAGTATGACCGCATGA c.7701_7702insCAAGTATGACCGCATGA (p.Lys2568GlnfsTer3) c.7506_7507insCAAGTATGACCGCATGA (p.Lys2503GlnfsTer3) c.7674_7675insCAAGTATGACCGCATGA (p.Lys2559GlnfsTer3) | dbSNP |
| 16 | g.89270820C>A | CA397146318 | ANKRD11 | c.7803G>T (p.Met2601Ile) c.*7606G>T (n.*7606G>T) c.1077G>T (p.Met359Ile) c.484G>T c.7701G>T (p.Met2567Ile) c.7506G>T (p.Met2502Ile) c.7674G>T (p.Met2558Ile) | |
| 16 | g.89270820C>G | CA397146320 | ANKRD11 | c.7803G>C (p.Met2601Ile) c.*7606G>C (n.*7606G>C) c.1077G>C (p.Met359Ile) c.484G>C c.7701G>C (p.Met2567Ile) c.7506G>C (p.Met2502Ile) c.7674G>C (p.Met2558Ile) | |
| 16 | g.89270820C>T | CA397146322 | ANKRD11 | c.7803G>A (p.Met2601Ile) c.*7606G>A (n.*7606G>A) c.1077G>A (p.Met359Ile) c.484G>A c.7701G>A (p.Met2567Ile) c.7506G>A (p.Met2502Ile) c.7674G>A (p.Met2558Ile) | |
| 16 | g.89270821A>C | CA397146324 | ANKRD11 | c.7802T>G (p.Met2601Arg) c.*7605T>G (n.*7605T>G) c.1076T>G (p.Met359Arg) c.483T>G c.7700T>G (p.Met2567Arg) c.7505T>G (p.Met2502Arg) c.7673T>G (p.Met2558Arg) | |
| 16 | g.89270821A>G | CA397146326 | ANKRD11 | c.7802T>C (p.Met2601Thr) c.*7605T>C (n.*7605T>C) c.1076T>C (p.Met359Thr) c.483T>C c.7700T>C (p.Met2567Thr) c.7505T>C (p.Met2502Thr) c.7673T>C (p.Met2558Thr) | |
| 16 | g.89270821A>T | CA397146328 | ANKRD11 | c.7802T>A (p.Met2601Lys) c.*7605T>A (n.*7605T>A) c.1076T>A (p.Met359Lys) c.483T>A c.7700T>A (p.Met2567Lys) c.7505T>A (p.Met2502Lys) c.7673T>A (p.Met2558Lys) | |
| 16 | g.89270822T>A | CA397146330 | ANKRD11 | c.7801A>T (p.Met2601Leu) c.*7604A>T (n.*7604A>T) c.1075A>T (p.Met359Leu) c.482A>T c.7699A>T (p.Met2567Leu) c.7504A>T (p.Met2502Leu) c.7672A>T (p.Met2558Leu) | |
| 16 | g.89270822T>C | CA397146332 | ANKRD11 | c.7801A>G (p.Met2601Val) c.*7604A>G (n.*7604A>G) c.1075A>G (p.Met359Val) c.482A>G c.7699A>G (p.Met2567Val) c.7504A>G (p.Met2502Val) c.7672A>G (p.Met2558Val) | dbSNP gnomAD v4 |
| 16 | g.89270822T>G | CA8241014 | ANKRD11 | c.7801A>C (p.Met2601Leu) c.*7604A>C (n.*7604A>C) c.1075A>C (p.Met359Leu) c.482A>C c.7699A>C (p.Met2567Leu) c.7504A>C (p.Met2502Leu) c.7672A>C (p.Met2558Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89270822T= | CA2241596176 | ANKRD11 | c.7801A= (p.Met2601=) c.*7604A= (n.*7604A=) c.1075A= (p.Met359=) c.482A= c.7699A= (p.Met2567=) c.7504A= (p.Met2502=) c.7672A= (p.Met2558=) | |
| 16 | g.89270823G>A | CA497166164 | ANKRD11 | c.7800C>T (p.Arg2600=) c.*7603C>T (n.*7603C>T) c.1074C>T (p.Arg358=) c.481C>T c.7698C>T (p.Arg2566=) c.7503C>T (p.Arg2501=) c.7671C>T (p.Arg2557=) | dbSNP |
| 16 | g.89270823G>C | CA497166166 | ANKRD11 | c.7800C>G (p.Arg2600=) c.*7603C>G (n.*7603C>G) c.1074C>G (p.Arg358=) c.481C>G c.7698C>G (p.Arg2566=) c.7503C>G (p.Arg2501=) c.7671C>G (p.Arg2557=) | |
| 16 | g.89270823G= | CA2241596177 | ANKRD11 | c.7800C= (p.Arg2600=) c.*7603C= (n.*7603C=) c.1074C= (p.Arg358=) c.481C= c.7698C= (p.Arg2566=) c.7503C= (p.Arg2501=) c.7671C= (p.Arg2557=) | |
| 16 | g.89270823G>T | CA497166167 | ANKRD11 | c.7800C>A (p.Arg2600=) c.*7603C>A (n.*7603C>A) c.1074C>A (p.Arg358=) c.481C>A c.7698C>A (p.Arg2566=) c.7503C>A (p.Arg2501=) c.7671C>A (p.Arg2557=) | |
| 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) |