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 |
|---|---|---|---|---|---|
| 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.5225628_5225638delinsCACACCAGCCA | CA1949564377 | HBB | c.404_414delinsTGGCTGGTGTG (p.Val135=) c.*220_*230delinsTGGCTGGTGTG (n.*220_*230delinsTGGCTGGTGTG) | |
| 11 | g.5225629_5225638delinsCTGC | CA217112350 | HBB | c.404_413delinsGCAG (p.Val135_Val138delinsGlyArg) c.*220_*229delinsGCAG (n.*220_*229delinsGCAG) | dbSNP |
| 11 | g.5225634_5225645delinsAGCCACCACTTT | CA1949564412 | HBB | c.397_408delinsAAAGTGGTGGCT (p.Lys133=) c.*213_*224delinsAAAGTGGTGGCT (n.*213_*224delinsAAAGTGGTGGCT) | |
| 11 | g.5225635G>A | CA5839691 | HBB | c.407C>T (p.Ala136Val) c.*223C>T (n.*223C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.5225635G>C | CA379273668 | HBB | c.407C>G (p.Ala136Gly) c.*223C>G (n.*223C>G) | |
| 11 | g.5225635G= | CA1949564419 | HBB | c.407C= (p.Ala136=) c.*223C= (n.*223C=) | |
| 11 | g.5225635G>T | CA125405 | HBB | c.407C>A (p.Ala136Asp) c.*223C>A (n.*223C>A) | ClinVar dbSNP |
| 11 | g.5225635_5225645del | CA217112361 | HBB | c.397_407del (p.Lys133TrpfsTer4) c.*213_*223del (n.*213_*223del) | dbSNP |
| 11 | g.[5225635_5225645del;5225654_5225657delinsTGTGG] | CA1139767774 | HBB | c.[385_388delinsCCACA;397_407del] (p.Ala129_Ala136delinsProHisLeuSer) c.[*201_*204delinsCCACA;*213_*223del] (n.[*201_*204delinsCCACA;*213_*223del]) | ClinVar |
| 11 | g.5225636C>A | CA379273669 | HBB | c.406G>T (p.Ala136Ser) c.*222G>T (n.*222G>T) | |
| 11 | g.5225636C= | CA1949564431 | HBB | c.406G= (p.Ala136=) c.*222G= (n.*222G=) | |
| 11 | g.5225636C>G | CA124722 | HBB | c.406G>C (p.Ala136Pro) c.*222G>C (n.*222G>C) | ClinVar dbSNP |
| 11 | g.5225636C>T | CA379273670 | HBB | c.406G>A (p.Ala136Thr) c.*222G>A (n.*222G>A) | |
| 11 | g.5225637C>A | CA472638328 | HBB | c.405G>T (p.Val135=) c.*221G>T (n.*221G>T) | |
| 11 | g.5225637C>G | CA472638327 | HBB | c.405G>C (p.Val135=) c.*221G>C (n.*221G>C) | |
| 11 | g.5225637C>T | CA472638325 | HBB | c.405G>A (p.Val135=) c.*221G>A (n.*221G>A) | gnomAD v4 |
| 11 | g.5225638_5225639del | CA2695213002 | HBB | c.404_405del (p.Val135GlyfsTer5) c.*220_*221del (n.*220_*221del) | |
| 11 | g.5225638A= | CA1949564445 | HBB | c.404T= (p.Val135=) c.*220T= (n.*220T=) | |
| 11 | g.5225638A>C | CA217112364 | HBB | c.404T>G (p.Val135Gly) c.*220T>G (n.*220T>G) | dbSNP gnomAD v4 |
| 11 | g.5225638A>G | CA125496 | HBB | c.404T>C (p.Val135Ala) c.*220T>C (n.*220T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5225638A>T | CA125066 | HBB | c.404T>A (p.Val135Glu) c.*220T>A (n.*220T>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.5225639_5225649del | CA2573335037 | HBB | c.394_404del (p.Gln132GlyfsTer5) c.*210_*220del (n.*210_*220del) | ClinVar |
| 11 | g.5225639C>A | CA379273671 | HBB | c.403G>T (p.Val135Leu) c.*219G>T (n.*219G>T) | COSMIC |
| 11 | g.5225639C>G | CA379273672 | HBB | c.403G>C (p.Val135Leu) c.*219G>C (n.*219G>C) | |
| 11 | g.5225639C>T | CA379273673 | HBB | c.403G>A (p.Val135Met) c.*219G>A (n.*219G>A) | |
| 11 | g.5225640C>A | CA472638330 | HBB | c.402G>T (p.Val134=) c.*218G>T (n.*218G>T) | |
| 11 | g.5225640C= | CA1949564458 | HBB | c.402G= (p.Val134=) c.*218G= (n.*218G=) | |
| 11 | g.5225640C>G | CA342870 | HBB | c.402G>C (p.Val134=) c.*218G>C (n.*218G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5225640C>T | CA5839692 | HBB | c.402G>A (p.Val134=) c.*218G>A (n.*218G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5225641A= | CA1949564472 | HBB | c.401T= (p.Val134=) c.*217T= (n.*217T=) | |
| 11 | g.5225641A>C | CA379273674 | HBB | c.401T>G (p.Val134Gly) c.*217T>G (n.*217T>G) | |
| 11 | g.5225641A>G | CA125492 | HBB | c.401T>C (p.Val134Ala) c.*217T>C (n.*217T>C) | ClinVar dbSNP |
| 11 | g.5225641A>T | CA379273675 | HBB | c.401T>A (p.Val134Glu) c.*217T>A (n.*217T>A) | |
| 11 | g.5225641_5225653del | CA2580083906 | HBB | c.389_401del (p.Ala130GlyfsTer25) c.*205_*217del (n.*205_*217del) | ClinVar |