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.89280373_89280377del | CA2739290848 | ANKRD11 | c.6166_6170del (p.Tyr2056ProfsTer?) c.*5969_*5973del (n.*5969_*5973del) c.745-5185_745-5181del (n.745-5185_745-5181del) c.152-5185_152-5181del c.6064_6068del (p.Tyr2022ProfsTer?) c.5869_5873del (p.Tyr1957ProfsTer?) c.6037_6041del (p.Tyr2013ProfsTer?) | |
| 16 | g.89280375T>A | CA397151884 | ANKRD11 | c.6167A>T (p.Tyr2056Phe) c.*5970A>T (n.*5970A>T) c.745-5184A>T (n.745-5184A>T) c.152-5184A>T c.6065A>T (p.Tyr2022Phe) c.5870A>T (p.Tyr1957Phe) c.6038A>T (p.Tyr2013Phe) | |
| 16 | g.89280375T>C | CA397151888 | ANKRD11 | c.6167A>G (p.Tyr2056Cys) c.*5970A>G (n.*5970A>G) c.745-5184A>G (n.745-5184A>G) c.152-5184A>G c.6065A>G (p.Tyr2022Cys) c.5870A>G (p.Tyr1957Cys) c.6038A>G (p.Tyr2013Cys) | |
| 16 | g.89280375T>G | CA397151885 | ANKRD11 | c.6167A>C (p.Tyr2056Ser) c.*5970A>C (n.*5970A>C) c.745-5184A>C (n.745-5184A>C) c.152-5184A>C c.6065A>C (p.Tyr2022Ser) c.5870A>C (p.Tyr1957Ser) c.6038A>C (p.Tyr2013Ser) | gnomAD v4 |
| 16 | g.89280376A= | CA2241587370 | ANKRD11 | c.6166T= (p.Tyr2056=) c.*5969T= (n.*5969T=) c.745-5185T= (n.745-5185T=) c.152-5185T= c.6064T= (p.Tyr2022=) c.5869T= (p.Tyr1957=) c.6037T= (p.Tyr2013=) | |
| 16 | g.89280376A>C | CA397151891 | ANKRD11 | c.6166T>G (p.Tyr2056Asp) c.*5969T>G (n.*5969T>G) c.745-5185T>G (n.745-5185T>G) c.152-5185T>G c.6064T>G (p.Tyr2022Asp) c.5869T>G (p.Tyr1957Asp) c.6037T>G (p.Tyr2013Asp) | |
| 16 | g.89280376A>G | CA397151893 | ANKRD11 | c.6166T>C (p.Tyr2056His) c.*5969T>C (n.*5969T>C) c.745-5185T>C (n.745-5185T>C) c.152-5185T>C c.6064T>C (p.Tyr2022His) c.5869T>C (p.Tyr1957His) c.6037T>C (p.Tyr2013His) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.89280376A>T | CA397151895 | ANKRD11 | c.6166T>A (p.Tyr2056Asn) c.*5969T>A (n.*5969T>A) c.745-5185T>A (n.745-5185T>A) c.152-5185T>A c.6064T>A (p.Tyr2022Asn) c.5869T>A (p.Tyr1957Asn) c.6037T>A (p.Tyr2013Asn) | gnomAD v4 |
| 16 | g.89280376_89280377delinsAG | CA2241587371 | ANKRD11 | c.6165_6166delinsCT (p.Pro2055=) c.*5968_*5969delinsCT (n.*5968_*5969delinsCT) c.745-5186_745-5185delinsCT (n.745-5186_745-5185delinsCT) c.152-5186_152-5185delinsCT c.6063_6064delinsCT (p.Pro2021=) c.5868_5869delinsCT (p.Pro1956=) c.6036_6037delinsCT (p.Pro2012=) | |
| 16 | g.89280377G>A | CA497373193 | ANKRD11 | c.6165C>T (p.Pro2055=) c.*5968C>T (n.*5968C>T) c.745-5186C>T (n.745-5186C>T) c.152-5186C>T c.6063C>T (p.Pro2021=) c.5868C>T (p.Pro1956=) c.6036C>T (p.Pro2012=) | ClinVar dbSNP gnomAD v4 |
| 16 | g.89280377G>C | CA8241555 | ANKRD11 | c.6165C>G (p.Pro2055=) c.*5968C>G (n.*5968C>G) c.745-5186C>G (n.745-5186C>G) c.152-5186C>G c.6063C>G (p.Pro2021=) c.5868C>G (p.Pro1956=) c.6036C>G (p.Pro2012=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89280377G= | CA2241587372 | ANKRD11 | c.6165C= (p.Pro2055=) c.*5968C= (n.*5968C=) c.745-5186C= (n.745-5186C=) c.152-5186C= c.6063C= (p.Pro2021=) c.5868C= (p.Pro1956=) c.6036C= (p.Pro2012=) | |
| 16 | g.89280377G>T | CA497373190 | ANKRD11 | c.6165C>A (p.Pro2055=) c.*5968C>A (n.*5968C>A) c.745-5186C>A (n.745-5186C>A) c.152-5186C>A c.6063C>A (p.Pro2021=) c.5868C>A (p.Pro1956=) c.6036C>A (p.Pro2012=) | |
| 16 | g.89280379del | CA915949410 | ANKRD11 | c.6165del (p.Tyr2056ThrfsTer?) c.*5968del (n.*5968del) c.745-5186del (n.745-5186del) c.152-5186del c.6063del (p.Tyr2022ThrfsTer?) c.5868del (p.Tyr1957ThrfsTer?) c.6036del (p.Tyr2013ThrfsTer?) | ClinVar dbSNP |
| 16 | g.89280378G>A | CA397151898 | ANKRD11 | c.6164C>T (p.Pro2055Leu) c.*5967C>T (n.*5967C>T) c.745-5187C>T (n.745-5187C>T) c.152-5187C>T c.6062C>T (p.Pro2021Leu) c.5867C>T (p.Pro1956Leu) c.6035C>T (p.Pro2012Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89280378G>C | CA397151899 | ANKRD11 | c.6164C>G (p.Pro2055Arg) c.*5967C>G (n.*5967C>G) c.745-5187C>G (n.745-5187C>G) c.152-5187C>G c.6062C>G (p.Pro2021Arg) c.5867C>G (p.Pro1956Arg) c.6035C>G (p.Pro2012Arg) | |
| 16 | g.89280378G= | CA2241587373 | ANKRD11 | c.6164C= (p.Pro2055=) c.*5967C= (n.*5967C=) c.745-5187C= (n.745-5187C=) c.152-5187C= c.6062C= (p.Pro2021=) c.5867C= (p.Pro1956=) c.6035C= (p.Pro2012=) | |
| 16 | g.89280378G>T | CA397151901 | ANKRD11 | c.6164C>A (p.Pro2055His) c.*5967C>A (n.*5967C>A) c.745-5187C>A (n.745-5187C>A) c.152-5187C>A c.6062C>A (p.Pro2021His) c.5867C>A (p.Pro1956His) c.6035C>A (p.Pro2012His) | dbSNP gnomAD v4 |
| 16 | g.89280379G>A | CA397151903 | ANKRD11 | c.6163C>T (p.Pro2055Ser) c.*5966C>T (n.*5966C>T) c.745-5188C>T (n.745-5188C>T) c.152-5188C>T c.6061C>T (p.Pro2021Ser) c.5866C>T (p.Pro1956Ser) c.6034C>T (p.Pro2012Ser) | |
| 16 | g.89280379G>C | CA397151905 | ANKRD11 | c.6163C>G (p.Pro2055Ala) c.*5966C>G (n.*5966C>G) c.745-5188C>G (n.745-5188C>G) c.152-5188C>G c.6061C>G (p.Pro2021Ala) c.5866C>G (p.Pro1956Ala) c.6034C>G (p.Pro2012Ala) | |
| 16 | g.89280379G>T | CA397151907 | ANKRD11 | c.6163C>A (p.Pro2055Thr) c.*5966C>A (n.*5966C>A) c.745-5188C>A (n.745-5188C>A) c.152-5188C>A c.6061C>A (p.Pro2021Thr) c.5866C>A (p.Pro1956Thr) c.6034C>A (p.Pro2012Thr) | |
| 16 | g.89280380A= | CA2241587374 | ANKRD11 | c.6162T= (p.Ala2054=) c.*5965T= (n.*5965T=) c.745-5189T= (n.745-5189T=) c.152-5189T= c.6060T= (p.Ala2020=) c.5865T= (p.Ala1955=) c.6033T= (p.Ala2011=) | |
| 16 | g.89280380A>C | CA497373271 | ANKRD11 | c.6162T>G (p.Ala2054=) c.*5965T>G (n.*5965T>G) c.745-5189T>G (n.745-5189T>G) c.152-5189T>G c.6060T>G (p.Ala2020=) c.5865T>G (p.Ala1955=) c.6033T>G (p.Ala2011=) | |
| 16 | g.89280380A>G | CA497373272 | ANKRD11 | c.6162T>C (p.Ala2054=) c.*5965T>C (n.*5965T>C) c.745-5189T>C (n.745-5189T>C) c.152-5189T>C c.6060T>C (p.Ala2020=) c.5865T>C (p.Ala1955=) c.6033T>C (p.Ala2011=) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.89280380A>T | CA497373273 | ANKRD11 | c.6162T>A (p.Ala2054=) c.*5965T>A (n.*5965T>A) c.745-5189T>A (n.745-5189T>A) c.152-5189T>A c.6060T>A (p.Ala2020=) c.5865T>A (p.Ala1955=) c.6033T>A (p.Ala2011=) | |
| 16 | g.89280380_89280383del | CA2695223929 | ANKRD11 | c.6159_6162del (p.Ala2054ProfsTer?) c.*5962_*5965del (n.*5962_*5965del) c.745-5192_745-5189del (n.745-5192_745-5189del) c.152-5192_152-5189del c.6057_6060del (p.Ala2020ProfsTer?) c.5862_5865del (p.Ala1955ProfsTer?) c.6030_6033del (p.Ala2011ProfsTer?) | |
| 16 | g.89280381G>A | CA397151913 | ANKRD11 | c.6161C>T (p.Ala2054Val) c.*5964C>T (n.*5964C>T) c.745-5190C>T (n.745-5190C>T) c.152-5190C>T c.6059C>T (p.Ala2020Val) c.5864C>T (p.Ala1955Val) c.6032C>T (p.Ala2011Val) | dbSNP gnomAD v4 |
| 16 | g.89280381G>C | CA397151911 | ANKRD11 | c.6161C>G (p.Ala2054Gly) c.*5964C>G (n.*5964C>G) c.745-5190C>G (n.745-5190C>G) c.152-5190C>G c.6059C>G (p.Ala2020Gly) c.5864C>G (p.Ala1955Gly) c.6032C>G (p.Ala2011Gly) | dbSNP |
| 16 | g.89280381G= | CA2241587375 | ANKRD11 | c.6161C= (p.Ala2054=) c.*5964C= (n.*5964C=) c.745-5190C= (n.745-5190C=) c.152-5190C= c.6059C= (p.Ala2020=) c.5864C= (p.Ala1955=) c.6032C= (p.Ala2011=) | |
| 16 | g.89280381G>T | CA397151909 | ANKRD11 | c.6161C>A (p.Ala2054Asp) c.*5964C>A (n.*5964C>A) c.745-5190C>A (n.745-5190C>A) c.152-5190C>A c.6059C>A (p.Ala2020Asp) c.5864C>A (p.Ala1955Asp) c.6032C>A (p.Ala2011Asp) | |
| 16 | g.89280382C>A | CA397151915 | ANKRD11 | c.6160G>T (p.Ala2054Ser) c.*5963G>T (n.*5963G>T) c.745-5191G>T (n.745-5191G>T) c.152-5191G>T c.6058G>T (p.Ala2020Ser) c.5863G>T (p.Ala1955Ser) c.6031G>T (p.Ala2011Ser) | gnomAD v4 |
| 16 | g.89280382C>G | CA397151917 | ANKRD11 | c.6160G>C (p.Ala2054Pro) c.*5963G>C (n.*5963G>C) c.745-5191G>C (n.745-5191G>C) c.152-5191G>C c.6058G>C (p.Ala2020Pro) c.5863G>C (p.Ala1955Pro) c.6031G>C (p.Ala2011Pro) | |
| 16 | g.89280382C>T | CA397151919 | ANKRD11 | c.6160G>A (p.Ala2054Thr) c.*5963G>A (n.*5963G>A) c.745-5191G>A (n.745-5191G>A) c.152-5191G>A c.6058G>A (p.Ala2020Thr) c.5863G>A (p.Ala1955Thr) c.6031G>A (p.Ala2011Thr) | gnomAD v4 |
| 16 | g.89280383C>A | CA497373274 | ANKRD11 | c.6159G>T (p.Ala2053=) c.*5962G>T (n.*5962G>T) c.745-5192G>T (n.745-5192G>T) c.152-5192G>T c.6057G>T (p.Ala2019=) c.5862G>T (p.Ala1954=) c.6030G>T (p.Ala2010=) | |
| 16 | g.89280383C= | CA2241587376 | ANKRD11 | c.6159G= (p.Ala2053=) c.*5962G= (n.*5962G=) c.745-5192G= (n.745-5192G=) c.152-5192G= c.6057G= (p.Ala2019=) c.5862G= (p.Ala1954=) c.6030G= (p.Ala2010=) | |
| 16 | g.89280383C>G | CA497373275 | ANKRD11 | c.6159G>C (p.Ala2053=) c.*5962G>C (n.*5962G>C) c.745-5192G>C (n.745-5192G>C) c.152-5192G>C c.6057G>C (p.Ala2019=) c.5862G>C (p.Ala1954=) c.6030G>C (p.Ala2010=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89280383C>T | CA8241556 | ANKRD11 | c.6159G>A (p.Ala2053=) c.*5962G>A (n.*5962G>A) c.745-5192G>A (n.745-5192G>A) c.152-5192G>A c.6057G>A (p.Ala2019=) c.5862G>A (p.Ala1954=) c.6030G>A (p.Ala2010=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89280384G>A | CA8241557 | ANKRD11 | c.6158C>T (p.Ala2053Val) c.*5961C>T (n.*5961C>T) c.745-5193C>T (n.745-5193C>T) c.152-5193C>T c.6056C>T (p.Ala2019Val) c.5861C>T (p.Ala1954Val) c.6029C>T (p.Ala2010Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89280384G>C | CA397151924 | ANKRD11 | c.6158C>G (p.Ala2053Gly) c.*5961C>G (n.*5961C>G) c.745-5193C>G (n.745-5193C>G) c.152-5193C>G c.6056C>G (p.Ala2019Gly) c.5861C>G (p.Ala1954Gly) c.6029C>G (p.Ala2010Gly) | gnomAD v4 |
| 16 | g.89280384G= | CA2241587377 | ANKRD11 | c.6158C= (p.Ala2053=) c.*5961C= (n.*5961C=) c.745-5193C= (n.745-5193C=) c.152-5193C= c.6056C= (p.Ala2019=) c.5861C= (p.Ala1954=) c.6029C= (p.Ala2010=) | |
| 16 | g.89280384G>T | CA397151926 | ANKRD11 | c.6158C>A (p.Ala2053Glu) c.*5961C>A (n.*5961C>A) c.745-5193C>A (n.745-5193C>A) c.152-5193C>A c.6056C>A (p.Ala2019Glu) c.5861C>A (p.Ala1954Glu) c.6029C>A (p.Ala2010Glu) | |
| 16 | g.89280385C>A | CA397151927 | ANKRD11 | c.6157G>T (p.Ala2053Ser) c.*5960G>T (n.*5960G>T) c.745-5194G>T (n.745-5194G>T) c.152-5194G>T c.6055G>T (p.Ala2019Ser) c.5860G>T (p.Ala1954Ser) c.6028G>T (p.Ala2010Ser) | |
| 16 | g.89280385C= | CA2241587378 | ANKRD11 | c.6157G= (p.Ala2053=) c.*5960G= (n.*5960G=) c.745-5194G= (n.745-5194G=) c.152-5194G= c.6055G= (p.Ala2019=) c.5860G= (p.Ala1954=) c.6028G= (p.Ala2010=) | |
| 16 | g.89280385C>G | CA397151929 | ANKRD11 | c.6157G>C (p.Ala2053Pro) c.*5960G>C (n.*5960G>C) c.745-5194G>C (n.745-5194G>C) c.152-5194G>C c.6055G>C (p.Ala2019Pro) c.5860G>C (p.Ala1954Pro) c.6028G>C (p.Ala2010Pro) | |
| 16 | g.89280385C>T | CA397151931 | ANKRD11 | c.6157G>A (p.Ala2053Thr) c.*5960G>A (n.*5960G>A) c.745-5194G>A (n.745-5194G>A) c.152-5194G>A c.6055G>A (p.Ala2019Thr) c.5860G>A (p.Ala1954Thr) c.6028G>A (p.Ala2010Thr) | ClinVar dbSNP |
| 16 | g.89280386C>A | CA397151933 | ANKRD11 | c.6156G>T (p.Glu2052Asp) c.*5959G>T (n.*5959G>T) c.745-5195G>T (n.745-5195G>T) c.152-5195G>T c.6054G>T (p.Glu2018Asp) c.5859G>T (p.Glu1953Asp) c.6027G>T (p.Glu2009Asp) | |
| 16 | g.89280386C= | CA2241587379 | ANKRD11 | c.6156G= (p.Glu2052=) c.*5959G= (n.*5959G=) c.745-5195G= (n.745-5195G=) c.152-5195G= c.6054G= (p.Glu2018=) c.5859G= (p.Glu1953=) c.6027G= (p.Glu2009=) | |
| 16 | g.89280386C>G | CA397151934 | ANKRD11 | c.6156G>C (p.Glu2052Asp) c.*5959G>C (n.*5959G>C) c.745-5195G>C (n.745-5195G>C) c.152-5195G>C c.6054G>C (p.Glu2018Asp) c.5859G>C (p.Glu1953Asp) c.6027G>C (p.Glu2009Asp) | |
| 16 | g.89280386C>T | CA497373276 | ANKRD11 | c.6156G>A (p.Glu2052=) c.*5959G>A (n.*5959G>A) c.745-5195G>A (n.745-5195G>A) c.152-5195G>A c.6054G>A (p.Glu2018=) c.5859G>A (p.Glu1953=) c.6027G>A (p.Glu2009=) | dbSNP gnomAD v4 |
| 16 | g.89280387T>A | CA397151937 | ANKRD11 | c.6155A>T (p.Glu2052Val) c.*5958A>T (n.*5958A>T) c.745-5196A>T (n.745-5196A>T) c.152-5196A>T c.6053A>T (p.Glu2018Val) c.5858A>T (p.Glu1953Val) c.6026A>T (p.Glu2009Val) | gnomAD v4 |