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 |
|---|---|---|---|---|---|
| 11 | g.5218346_5226066del | CA916083167 | ClinVar | ||
| 11 | g.5224303_5227790del | CA2499220996 | ClinVar | ||
| 11 | g.5225158_5227199delinsCTTAT | CA916083168 | ClinVar | ||
| 11 | g.5225255_5225875delinsCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGGCTGTTGCCAATGTGCATTAGCTGTTTGCAGCCTCACCTTCTTTCATGGAGTTTAAGATATAGTGTATTTTCCCAAGGTTTGAACTAGCTCTTCATTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCA | CA1949563432 | |||
| 11 | g.5225256_5225874delinsAAGTAG | CA658820845 | |||
| 11 | g.5225256_5225874delinsTCTACTT | CA923726280 | |||
| 11 | g.5225256_5225875delinsTCTACCT | CA915940749 | |||
| 11 | g.5225256_5225875delinsTCTACTT | CA915940716 | ClinVar dbSNP | ||
| 11 | g.5225388_5226007delinsTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCAGTTACAATTTATATGCAGAAATATTTATATGCAGAGATATTGCTATTGCCTTAACCCAGAAATTATCACTGTTATTCTTTAGAATGGTGCAAAGAGGCATGATACATTGTATCATTATTGCCCTGAAAGAAA | CA1949563581 | |||
| 11 | g.5225389_5226007del | CA916083169 | ClinVar dbSNP | ||
| 11 | g.5225465_5225726delinsTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAG | CA1949563653 | HBB | c.316_*133delinsCTCCTGGGCAACGTGCTGGTCTGTGTGCTGGCCCATCACTTTGGCAAAGAATTCACCCCACCAGTGCAGGCTGCCTATCAGAAAGTGGTGGCTGGTGTGGCTAATGCCCTGGCCCACAAGTATCACTAAGCTCGCTTTCTTGCTGTCCAATTTCTATTAAAGGTTCCTTTGTTCCCTAAGTCCAACTACTAAACTGGGGGATATTATGAAGGGCCTTGAGCATCTGGATTCTGCCTAATAAAAAACATTTATTTTCATTGCA (n.[c.316_*133delinsCTCCTGGGCAACGTGCTGGTCTGTGTGCTGGCCCATCACTTTGGCAAAGAATTCACCCCACCAGTGCAGGCTGCCTATCAGAAAGTGGTGGCTGGTGTGGCTAATGCCCTGGCCCACAAGTATCACTAAGCTCGCTTTCTTGCTGTCCAATTTCTATTAAAGGTTCCTTTGTTCCCTAAGTCCAACTACTAAACTGGGGGATATTATGAAGGGCCTTGAGCATCTGGATTCTGCCTAATAAAAAACATTTATTTTCATTGCA;Leu106=]) | |
| 11 | g.5225465_5225875delinsTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCA | CA1949563650 | HBB | c.316-149_*133delinsTGATGTAAGAGGTTTCATATTGCTAATAGCAGCTACAATCCAGCTACCATTCTGCTTTTATTTTATGGTTGGGATAAGGCTGGATTATTCTGAGTCCAAGCTAGGCCCTTTTGCTAATCATGTTCATACCTCTTATCTTCCTCCCACAGCTCCTGGGCAACGTGCTGGTCTGTGTGCTGGCCCATCACTTTGGCAAAGAATTCACCCCACCAGTGCAGGCTGCCTATCAGAAAGTGGTGGCTGGTGTGGCTAATGCCCTGGCCCACAAGTATCACTAAGCTCGCTTTCTTGCTGTCCAATTTCTATTAAAGGTTCCTTTGTTCCCTAAGTCCAACTACTAAACTGGGGGATATTATGAAGGGCCTTGAGCATCTGGATTCTGCCTAATAAAAAACATTTATTTTCATTGCA | |
| 11 | g.5225466_5225726del | CA916083170 | HBB | c.316_*132del (n.[c.316_*132del;Leu106=]) | ClinVar dbSNP |
| 11 | g.5225467_5225876del | CA915947982 | HBB | c.316-149_*132del | ClinVar dbSNP |
| 11 | g.5225597_5225726delinsCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAG | CA1949564026 | HBB | c.316_*1delinsCTCCTGGGCAACGTGCTGGTCTGTGTGCTGGCCCATCACTTTGGCAAAGAATTCACCCCACCAGTGCAGGCTGCCTATCAGAAAGTGGTGGCTGGTGTGGCTAATGCCCTGGCCCACAAGTATCACTAAG (n.[c.316_*1delinsCTCCTGGGCAACGTGCTGGTCTGTGTGCTGGCCCATCACTTTGGCAAAGAATTCACCCCACCAGTGCAGGCTGCCTATCAGAAAGTGGTGGCTGGTGTGGCTAATGCCCTGGCCCACAAGTATCACTAAG;Leu106=]) c.*132_*261delinsCTCCTGGGCAACGTGCTGGTCTGTGTGCTGGCCCATCACTTTGGCAAAGAATTCACCCCACCAGTGCAGGCTGCCTATCAGAAAGTGGTGGCTGGTGTGGCTAATGCCCTGGCCCACAAGTATCACTAAG (n.*132_*261delinsCTCCTGGGCAACGTGCTGGTCTGTGTGCTGGCCCATCACTTTGGCAAAGAATTCACCCCACCAGTGCAGGCTGCCTATCAGAAAGTGGTGGCTGGTGTGGCTAATGCCCTGGCCCACAAGTATCACTAAG) | |
| 11 | g.5225598_5225726del | CA1139661787 | HBB | c.316_444del (p.Leu106_Ter148del) c.*132_*260del (n.*132_*260del) | ClinVar dbSNP |
| 11 | g.5225649_5225665del | CA5839693 | HBB | c.380_396del (p.Val127GlufsTer8) c.*196_*212del (n.*196_*212del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.5225659_5225665delinsTGCACTG | CA1949564691 | HBB | c.377_383delinsCAGTGCA (p.Pro126=) n.309_315delinsCAGTGCA c.*193_*199delinsCAGTGCA (n.*193_*199delinsCAGTGCA) | |
| 11 | g.5225661_5225666del | CA217112500 | HBB | c.377_382del (p.Pro126_Val127del) n.309_314del c.*193_*198del (n.*193_*198del) | dbSNP |
| 11 | g.5225662_5225664delinsACT | CA1949564731 | HBB | c.378_380delinsAGT (p.Pro126=) n.310_312delinsAGT c.*194_*196delinsAGT (n.*194_*196delinsAGT) | |
| 11 | g.5225662_5225666dup | CA2695213010 | HBB | c.376_380dup (p.Ala129CysfsTer?) n.308_312dup c.*192_*196dup (n.*192_*196dup) | |
| 11 | g.5225663_5225664del | CA1139661788 | HBB | c.378_379del (p.Val127AlafsTer13) n.310_311del c.*194_*195del (n.*194_*195del) | ClinVar dbSNP |
| 11 | g.5225663_5225664delinsCT | CA1949564754 | HBB | c.378_379delinsAG (p.Pro126=) n.310_311delinsAG c.*194_*195delinsAG (n.*194_*195delinsAG) | |
| 11 | g.5225663_5225671delinsCTGGTGGGG | CA1949564746 | HBB | c.371_379delinsCCCCACCAG (p.Thr124=) n.303_311delinsCCCCACCAG c.*187_*195delinsCCCCACCAG (n.*187_*195delinsCCCCACCAG) | |
| 11 | g.5225663_5225672delinsCTGGTGGGGT | CA1949564743 | HBB | c.370_379delinsACCCCACCAG (p.Thr124=) n.302_311delinsACCCCACCAG c.*186_*195delinsACCCCACCAG (n.*186_*195delinsACCCCACCAG) | |
| 11 | g.5225664del | CA217112544 | HBB | c.378del (p.Val127CysfsTer?) n.310del c.*194del (n.*194del) | ClinVar dbSNP |
| 11 | g.5225664T>A | CA472638405 | HBB | c.378A>T (p.Pro126=) n.310A>T c.*194A>T (n.*194A>T) | ClinVar dbSNP gnomAD v4 |
| 11 | g.5225664T>C | CA472638406 | HBB | c.378A>G (p.Pro126=) n.310A>G c.*194A>G (n.*194A>G) | dbSNP |
| 11 | g.5225664T>G | CA472638408 | HBB | c.378A>C (p.Pro126=) n.310A>C c.*194A>C (n.*194A>C) | |
| 11 | g.5225664T= | CA1949564769 | HBB | c.378A= (p.Pro126=) n.310A= c.*194A= (n.*194A=) | |
| 11 | g.5225667_5225669dup | CA217112540 | HBB | c.376_378dup (p.Pro126_Val127insPro) n.308_310dup c.*192_*194dup (n.*192_*194dup) | dbSNP |
| 11 | g.5225664_5225672del | CA217112548 | HBB | c.370_378del (p.Thr124_Pro126del) n.302_310del c.*186_*194del (n.*186_*194del) | dbSNP |
| 11 | g.5225666_5225673del | CA658683671 | HBB | c.371_378del (p.Thr124SerfsTer14) n.303_310del c.*187_*194del (n.*187_*194del) | ClinVar dbSNP |
| 11 | g.5225665G>A | CA379273695 | HBB | c.377C>T (p.Pro126Leu) n.309C>T c.*193C>T (n.*193C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.5225665G>C | CA379273696 | HBB | c.377C>G (p.Pro126Arg) n.309C>G c.*193C>G (n.*193C>G) | |
| 11 | g.5225665G= | CA1949564786 | HBB | c.377C= (p.Pro126=) n.309C= c.*193C= (n.*193C=) | |
| 11 | g.5225665G>T | CA379273697 | HBB | c.377C>A (p.Pro126Gln) n.309C>A c.*193C>A (n.*193C>A) | |
| 11 | g.5225666G>A | CA379273698 | HBB | c.376C>T (p.Pro126Ser) n.308C>T c.*192C>T (n.*192C>T) | |
| 11 | g.5225666G>C | CA5839697 | HBB | c.376C>G (p.Pro126Ala) n.308C>G c.*192C>G (n.*192C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.5225666G= | CA1949564788 | HBB | c.376C= (p.Pro126=) n.308C= c.*192C= (n.*192C=) | |
| 11 | g.5225666G>T | CA379273699 | HBB | c.376C>A (p.Pro126Thr) n.308C>A c.*192C>A (n.*192C>A) | gnomAD v4 COSMIC |
| 11 | g.5225666_5225667delinsGT | CA1949564787 | HBB | c.375_376delinsAC (p.Pro125=) n.307_308delinsAC c.*191_*192delinsAC (n.*191_*192delinsAC) | |
| 11 | g.5225667del | CA217112550 | HBB | c.375del (p.Pro126GlnfsTer?) n.307del c.*191del (n.*191del) | dbSNP |
| 11 | g.5225667T>A | CA472638415 | HBB | c.375A>T (p.Pro125=) n.307A>T c.*191A>T (n.*191A>T) | |
| 11 | g.5225667T>C | CA472638416 | HBB | c.375A>G (p.Pro125=) n.307A>G c.*191A>G (n.*191A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.5225667T>G | CA472638419 | HBB | c.375A>C (p.Pro125=) n.307A>C c.*191A>C (n.*191A>C) | gnomAD v4 |
| 11 | g.5225667T= | CA1949564792 | HBB | c.375A= (p.Pro125=) n.307A= c.*191A= (n.*191A=) | |
| 11 | g.5225667dup | CA217112549 | HBB | c.375dup (p.Pro126ThrfsTer15) n.307dup c.*191dup (n.*191dup) | ClinVar dbSNP gnomAD v4 |
| 11 | g.5225668G>A | CA125462 | HBB | c.374C>T (p.Pro125Leu) n.306C>T c.*190C>T (n.*190C>T) | ClinVar dbSNP |
| 11 | g.5225668G>C | CA124981 | HBB | c.374C>G (p.Pro125Arg) n.306C>G c.*190C>G (n.*190C>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |