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.89279404G>A | CA16608326 | ANKRD11 | c.7138C>T (p.Gln2380Ter) c.*6941C>T (n.*6941C>T) c.745-4213C>T (n.745-4213C>T) c.152-4213C>T n.313C>T c.7036C>T (p.Gln2346Ter) c.6841C>T (p.Gln2281Ter) c.7009C>T (p.Gln2337Ter) | ClinVar dbSNP |
| 16 | g.89279404G>C | CA397149232 | ANKRD11 | c.7138C>G (p.Gln2380Glu) c.*6941C>G (n.*6941C>G) c.745-4213C>G (n.745-4213C>G) c.152-4213C>G n.313C>G c.7036C>G (p.Gln2346Glu) c.6841C>G (p.Gln2281Glu) c.7009C>G (p.Gln2337Glu) | gnomAD v4 |
| 16 | g.89279404G= | CA2241586688 | ANKRD11 | c.7138C= (p.Gln2380=) c.*6941C= (n.*6941C=) c.745-4213C= (n.745-4213C=) c.152-4213C= n.313C= c.7036C= (p.Gln2346=) c.6841C= (p.Gln2281=) c.7009C= (p.Gln2337=) | |
| 16 | g.89279404G>T | CA397149233 | ANKRD11 | c.7138C>A (p.Gln2380Lys) c.*6941C>A (n.*6941C>A) c.745-4213C>A (n.745-4213C>A) c.152-4213C>A n.313C>A c.7036C>A (p.Gln2346Lys) c.6841C>A (p.Gln2281Lys) c.7009C>A (p.Gln2337Lys) | |
| 16 | g.89279404_89279434delinsGGGCGTCGTCGTCCTCGGAGCCGCGGGCCTT | CA2241586689 | ANKRD11 | c.7108_7138delinsAAGGCCCGCGGCTCCGAGGACGACGACGCCC (p.Lys2370=) c.*6911_*6941delinsAAGGCCCGCGGCTCCGAGGACGACGACGCCC (n.*6911_*6941delinsAAGGCCCGCGGCTCCGAGGACGACGACGCCC) c.745-4243_745-4213delinsAAGGCCCGCGGCTCCGAGGACGACGACGCCC (n.745-4243_745-4213delinsAAGGCCCGCGGCTCCGAGGACGACGACGCCC) c.152-4243_152-4213delinsAAGGCCCGCGGCTCCGAGGACGACGACGCCC n.283_313delinsAAGGCCCGCGGCTCCGAGGACGACGACGCCC c.7006_7036delinsAAGGCCCGCGGCTCCGAGGACGACGACGCCC (p.Lys2336=) c.6811_6841delinsAAGGCCCGCGGCTCCGAGGACGACGACGCCC (p.Lys2271=) c.6979_7009delinsAAGGCCCGCGGCTCCGAGGACGACGACGCCC (p.Lys2327=) | |
| 16 | g.89279405G>A | CA497372624 | ANKRD11 | c.7137C>T (p.Ala2379=) c.*6940C>T (n.*6940C>T) c.745-4214C>T (n.745-4214C>T) c.152-4214C>T n.312C>T c.7035C>T (p.Ala2345=) c.6840C>T (p.Ala2280=) c.7008C>T (p.Ala2336=) | |
| 16 | g.89279405G>C | CA497372625 | ANKRD11 | c.7137C>G (p.Ala2379=) c.*6940C>G (n.*6940C>G) c.745-4214C>G (n.745-4214C>G) c.152-4214C>G n.312C>G c.7035C>G (p.Ala2345=) c.6840C>G (p.Ala2280=) c.7008C>G (p.Ala2336=) | |
| 16 | g.89279405G>T | CA497372626 | ANKRD11 | c.7137C>A (p.Ala2379=) c.*6940C>A (n.*6940C>A) c.745-4214C>A (n.745-4214C>A) c.152-4214C>A n.312C>A c.7035C>A (p.Ala2345=) c.6840C>A (p.Ala2280=) c.7008C>A (p.Ala2336=) | |
| 16 | g.89279405_89279407delinsGGC | CA2241586691 | ANKRD11 | c.7135_7137delinsGCC (p.Ala2379=) c.*6938_*6940delinsGCC (n.*6938_*6940delinsGCC) c.745-4216_745-4214delinsGCC (n.745-4216_745-4214delinsGCC) c.152-4216_152-4214delinsGCC n.310_312delinsGCC c.7033_7035delinsGCC (p.Ala2345=) c.6838_6840delinsGCC (p.Ala2280=) c.7006_7008delinsGCC (p.Ala2336=) | |
| 16 | g.89279408_89279437del | CA2241586690 | ANKRD11 | c.7108_7137del (p.Lys2370_Ala2379del) c.*6911_*6940del (n.*6911_*6940del) c.745-4243_745-4214del (n.745-4243_745-4214del) c.152-4243_152-4214del n.283_312del c.7006_7035del (p.Lys2336_Ala2345del) c.6811_6840del (p.Lys2271_Ala2280del) c.6979_7008del (p.Lys2327_Ala2336del) | dbSNP |
| 16 | g.89279406G>A | CA397149236 | ANKRD11 | c.7136C>T (p.Ala2379Val) c.*6939C>T (n.*6939C>T) c.745-4215C>T (n.745-4215C>T) c.152-4215C>T n.311C>T c.7034C>T (p.Ala2345Val) c.6839C>T (p.Ala2280Val) c.7007C>T (p.Ala2336Val) | gnomAD v4 |
| 16 | g.89279406G>C | CA286509479 | ANKRD11 | c.7136C>G (p.Ala2379Gly) c.*6939C>G (n.*6939C>G) c.745-4215C>G (n.745-4215C>G) c.152-4215C>G n.311C>G c.7034C>G (p.Ala2345Gly) c.6839C>G (p.Ala2280Gly) c.7007C>G (p.Ala2336Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89279406G= | CA2241586693 | ANKRD11 | c.7136C= (p.Ala2379=) c.*6939C= (n.*6939C=) c.745-4215C= (n.745-4215C=) c.152-4215C= n.311C= c.7034C= (p.Ala2345=) c.6839C= (p.Ala2280=) c.7007C= (p.Ala2336=) | |
| 16 | g.89279406G>T | CA397149239 | ANKRD11 | c.7136C>A (p.Ala2379Asp) c.*6939C>A (n.*6939C>A) c.745-4215C>A (n.745-4215C>A) c.152-4215C>A n.311C>A c.7034C>A (p.Ala2345Asp) c.6839C>A (p.Ala2280Asp) c.7007C>A (p.Ala2336Asp) | gnomAD v4 |
| 16 | g.89279407_89279408del | CA980389759 | ANKRD11 | c.7135_7136del (p.Ala2379ProfsTer?) c.*6938_*6939del (n.*6938_*6939del) c.745-4216_745-4215del (n.745-4216_745-4215del) c.152-4216_152-4215del n.310_311del c.7033_7034del (p.Ala2345ProfsTer?) c.6838_6839del (p.Ala2280ProfsTer?) c.7006_7007del (p.Ala2336ProfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.89279406_89279409delinsGCGT | CA2241586692 | ANKRD11 | c.7133_7136delinsACGC (p.Asp2378=) c.*6936_*6939delinsACGC (n.*6936_*6939delinsACGC) c.745-4218_745-4215delinsACGC (n.745-4218_745-4215delinsACGC) c.152-4218_152-4215delinsACGC n.308_311delinsACGC c.7031_7034delinsACGC (p.Asp2344=) c.6836_6839delinsACGC (p.Asp2279=) c.7004_7007delinsACGC (p.Asp2335=) | |
| 16 | g.89279407C>A | CA397149242 | ANKRD11 | c.7135G>T (p.Ala2379Ser) c.*6938G>T (n.*6938G>T) c.745-4216G>T (n.745-4216G>T) c.152-4216G>T n.310G>T c.7033G>T (p.Ala2345Ser) c.6838G>T (p.Ala2280Ser) c.7006G>T (p.Ala2336Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89279407C= | CA2241586694 | ANKRD11 | c.7135G= (p.Ala2379=) c.*6938G= (n.*6938G=) c.745-4216G= (n.745-4216G=) c.152-4216G= n.310G= c.7033G= (p.Ala2345=) c.6838G= (p.Ala2280=) c.7006G= (p.Ala2336=) | |
| 16 | g.89279407C>G | CA397149244 | ANKRD11 | c.7135G>C (p.Ala2379Pro) c.*6938G>C (n.*6938G>C) c.745-4216G>C (n.745-4216G>C) c.152-4216G>C n.310G>C c.7033G>C (p.Ala2345Pro) c.6838G>C (p.Ala2280Pro) c.7006G>C (p.Ala2336Pro) | |
| 16 | g.89279407C>T | CA397149246 | ANKRD11 | c.7135G>A (p.Ala2379Thr) c.*6938G>A (n.*6938G>A) c.745-4216G>A (n.745-4216G>A) c.152-4216G>A n.310G>A c.7033G>A (p.Ala2345Thr) c.6838G>A (p.Ala2280Thr) c.7006G>A (p.Ala2336Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.89279414_89279416del | CA8241290 | ANKRD11 | c.7133_7135del (p.Asp2378del) c.*6936_*6938del (n.*6936_*6938del) c.745-4218_745-4216del (n.745-4218_745-4216del) c.152-4218_152-4216del n.308_310del c.7031_7033del (p.Asp2344del) c.6836_6838del (p.Asp2279del) c.7004_7006del (p.Asp2335del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.89279408G>A | CA497372637 | ANKRD11 | c.7134C>T (p.Asp2378=) c.*6937C>T (n.*6937C>T) c.745-4217C>T (n.745-4217C>T) c.152-4217C>T n.309C>T c.7032C>T (p.Asp2344=) c.6837C>T (p.Asp2279=) c.7005C>T (p.Asp2335=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.89279408G>C | CA397149249 | ANKRD11 | c.7134C>G (p.Asp2378Glu) c.*6937C>G (n.*6937C>G) c.745-4217C>G (n.745-4217C>G) c.152-4217C>G n.309C>G c.7032C>G (p.Asp2344Glu) c.6837C>G (p.Asp2279Glu) c.7005C>G (p.Asp2335Glu) | |
| 16 | g.89279408G= | CA2241586695 | ANKRD11 | c.7134C= (p.Asp2378=) c.*6937C= (n.*6937C=) c.745-4217C= (n.745-4217C=) c.152-4217C= n.309C= c.7032C= (p.Asp2344=) c.6837C= (p.Asp2279=) c.7005C= (p.Asp2335=) | |
| 16 | g.89279408G>T | CA397149251 | ANKRD11 | c.7134C>A (p.Asp2378Glu) c.*6937C>A (n.*6937C>A) c.745-4217C>A (n.745-4217C>A) c.152-4217C>A n.309C>A c.7032C>A (p.Asp2344Glu) c.6837C>A (p.Asp2279Glu) c.7005C>A (p.Asp2335Glu) | |
| 16 | g.89279409T>A | CA397149254 | ANKRD11 | c.7133A>T (p.Asp2378Val) c.*6936A>T (n.*6936A>T) c.745-4218A>T (n.745-4218A>T) c.152-4218A>T n.308A>T c.7031A>T (p.Asp2344Val) c.6836A>T (p.Asp2279Val) c.7004A>T (p.Asp2335Val) | |
| 16 | g.89279409T>C | CA397149253 | ANKRD11 | c.7133A>G (p.Asp2378Gly) c.*6936A>G (n.*6936A>G) c.745-4218A>G (n.745-4218A>G) c.152-4218A>G n.308A>G c.7031A>G (p.Asp2344Gly) c.6836A>G (p.Asp2279Gly) c.7004A>G (p.Asp2335Gly) | gnomAD v4 |
| 16 | g.89279409T>G | CA8241291 | ANKRD11 | c.7133A>C (p.Asp2378Ala) c.*6936A>C (n.*6936A>C) c.745-4218A>C (n.745-4218A>C) c.152-4218A>C n.308A>C c.7031A>C (p.Asp2344Ala) c.6836A>C (p.Asp2279Ala) c.7004A>C (p.Asp2335Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89279409T= | CA2241586696 | ANKRD11 | c.7133A= (p.Asp2378=) c.*6936A= (n.*6936A=) c.745-4218A= (n.745-4218A=) c.152-4218A= n.308A= c.7031A= (p.Asp2344=) c.6836A= (p.Asp2279=) c.7004A= (p.Asp2335=) | |
| 16 | g.89279409_89279410delinsTC | CA2241586697 | ANKRD11 | c.7132_7133delinsGA (p.Asp2378=) c.*6935_*6936delinsGA (n.*6935_*6936delinsGA) c.745-4219_745-4218delinsGA (n.745-4219_745-4218delinsGA) c.152-4219_152-4218delinsGA n.307_308delinsGA c.7030_7031delinsGA (p.Asp2344=) c.6835_6836delinsGA (p.Asp2279=) c.7003_7004delinsGA (p.Asp2335=) | |
| 16 | g.89279410del | CA980389764 | ANKRD11 | c.7132del (p.Asp2378ThrfsTer23) c.*6935del (n.*6935del) c.745-4219del (n.745-4219del) c.152-4219del n.307del c.7030del (p.Asp2344ThrfsTer23) c.6835del (p.Asp2279ThrfsTer23) c.7003del (p.Asp2335ThrfsTer23) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.89279410C>A | CA397149256 | ANKRD11 | c.7132G>T (p.Asp2378Tyr) c.*6935G>T (n.*6935G>T) c.745-4219G>T (n.745-4219G>T) c.152-4219G>T n.307G>T c.7030G>T (p.Asp2344Tyr) c.6835G>T (p.Asp2279Tyr) c.7003G>T (p.Asp2335Tyr) | gnomAD v4 |
| 16 | g.89279410C= | CA2241586698 | ANKRD11 | c.7132G= (p.Asp2378=) c.*6935G= (n.*6935G=) c.745-4219G= (n.745-4219G=) c.152-4219G= n.307G= c.7030G= (p.Asp2344=) c.6835G= (p.Asp2279=) c.7003G= (p.Asp2335=) | |
| 16 | g.89279410C>G | CA397149258 | ANKRD11 | c.7132G>C (p.Asp2378His) c.*6935G>C (n.*6935G>C) c.745-4219G>C (n.745-4219G>C) c.152-4219G>C n.307G>C c.7030G>C (p.Asp2344His) c.6835G>C (p.Asp2279His) c.7003G>C (p.Asp2335His) | |
| 16 | g.89279410C>T | CA286509486 | ANKRD11 | c.7132G>A (p.Asp2378Asn) c.*6935G>A (n.*6935G>A) c.745-4219G>A (n.745-4219G>A) c.152-4219G>A n.307G>A c.7030G>A (p.Asp2344Asn) c.6835G>A (p.Asp2279Asn) c.7003G>A (p.Asp2335Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89279411G>A | CA286509489 | ANKRD11 | c.7131C>T (p.Asp2377=) c.*6934C>T (n.*6934C>T) c.745-4220C>T (n.745-4220C>T) c.152-4220C>T n.306C>T c.7029C>T (p.Asp2343=) c.6834C>T (p.Asp2278=) c.7002C>T (p.Asp2334=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.89279411G>C | CA397149261 | ANKRD11 | c.7131C>G (p.Asp2377Glu) c.*6934C>G (n.*6934C>G) c.745-4220C>G (n.745-4220C>G) c.152-4220C>G n.306C>G c.7029C>G (p.Asp2343Glu) c.6834C>G (p.Asp2278Glu) c.7002C>G (p.Asp2334Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.89279411G= | CA2241586699 | ANKRD11 | c.7131C= (p.Asp2377=) c.*6934C= (n.*6934C=) c.745-4220C= (n.745-4220C=) c.152-4220C= n.306C= c.7029C= (p.Asp2343=) c.6834C= (p.Asp2278=) c.7002C= (p.Asp2334=) | |
| 16 | g.89279411G>T | CA397149262 | ANKRD11 | c.7131C>A (p.Asp2377Glu) c.*6934C>A (n.*6934C>A) c.745-4220C>A (n.745-4220C>A) c.152-4220C>A n.306C>A c.7029C>A (p.Asp2343Glu) c.6834C>A (p.Asp2278Glu) c.7002C>A (p.Asp2334Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.89279412T>A | CA397149263 | ANKRD11 | c.7130A>T (p.Asp2377Val) c.*6933A>T (n.*6933A>T) c.745-4221A>T (n.745-4221A>T) c.152-4221A>T n.305A>T c.7028A>T (p.Asp2343Val) c.6833A>T (p.Asp2278Val) c.7001A>T (p.Asp2334Val) | dbSNP gnomAD v4 |
| 16 | g.89279412T>C | CA397149264 | ANKRD11 | c.7130A>G (p.Asp2377Gly) c.*6933A>G (n.*6933A>G) c.745-4221A>G (n.745-4221A>G) c.152-4221A>G n.305A>G c.7028A>G (p.Asp2343Gly) c.6833A>G (p.Asp2278Gly) c.7001A>G (p.Asp2334Gly) | |
| 16 | g.89279412T>G | CA397149265 | ANKRD11 | c.7130A>C (p.Asp2377Ala) c.*6933A>C (n.*6933A>C) c.745-4221A>C (n.745-4221A>C) c.152-4221A>C n.305A>C c.7028A>C (p.Asp2343Ala) c.6833A>C (p.Asp2278Ala) c.7001A>C (p.Asp2334Ala) | gnomAD v4 |
| 16 | g.89279412T= | CA2241586700 | ANKRD11 | c.7130A= (p.Asp2377=) c.*6933A= (n.*6933A=) c.745-4221A= (n.745-4221A=) c.152-4221A= n.305A= c.7028A= (p.Asp2343=) c.6833A= (p.Asp2278=) c.7001A= (p.Asp2334=) | |
| 16 | g.89279413C>A | CA286509492 | ANKRD11 | c.7129G>T (p.Asp2377Tyr) c.*6932G>T (n.*6932G>T) c.745-4222G>T (n.745-4222G>T) c.152-4222G>T n.304G>T c.7027G>T (p.Asp2343Tyr) c.6832G>T (p.Asp2278Tyr) c.7000G>T (p.Asp2334Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89279413C= | CA2241586701 | ANKRD11 | c.7129G= (p.Asp2377=) c.*6932G= (n.*6932G=) c.745-4222G= (n.745-4222G=) c.152-4222G= n.304G= c.7027G= (p.Asp2343=) c.6832G= (p.Asp2278=) c.7000G= (p.Asp2334=) | |
| 16 | g.89279413C>G | CA397149266 | ANKRD11 | c.7129G>C (p.Asp2377His) c.*6932G>C (n.*6932G>C) c.745-4222G>C (n.745-4222G>C) c.152-4222G>C n.304G>C c.7027G>C (p.Asp2343His) c.6832G>C (p.Asp2278His) c.7000G>C (p.Asp2334His) | |
| 16 | g.89279413C>T | CA397149267 | ANKRD11 | c.7129G>A (p.Asp2377Asn) c.*6932G>A (n.*6932G>A) c.745-4222G>A (n.745-4222G>A) c.152-4222G>A n.304G>A c.7027G>A (p.Asp2343Asn) c.6832G>A (p.Asp2278Asn) c.7000G>A (p.Asp2334Asn) | |
| 16 | g.89279413_89279414delinsAC | CA2740093464 | ANKRD11 | c.7128_7129delinsGT (p.Asp2376_Asp2377delinsGluTyr) c.*6931_*6932delinsGT (n.*6931_*6932delinsGT) c.745-4223_745-4222delinsGT (n.745-4223_745-4222delinsGT) c.152-4223_152-4222delinsGT n.303_304delinsGT c.7026_7027delinsGT (p.Asp2342_Asp2343delinsGluTyr) c.6831_6832delinsGT (p.Asp2277_Asp2278delinsGluTyr) c.6999_7000delinsGT (p.Asp2333_Asp2334delinsGluTyr) | ClinVar |
| 16 | g.89279414G>A | CA497372642 | ANKRD11 | c.7128C>T (p.Asp2376=) c.*6931C>T (n.*6931C>T) c.745-4223C>T (n.745-4223C>T) c.152-4223C>T n.303C>T c.7026C>T (p.Asp2342=) c.6831C>T (p.Asp2277=) c.6999C>T (p.Asp2333=) | ClinVar dbSNP gnomAD v4 |
| 16 | g.89279414G>C | CA8241292 | ANKRD11 | c.7128C>G (p.Asp2376Glu) c.*6931C>G (n.*6931C>G) c.745-4223C>G (n.745-4223C>G) c.152-4223C>G n.303C>G c.7026C>G (p.Asp2342Glu) c.6831C>G (p.Asp2277Glu) c.6999C>G (p.Asp2333Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |