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.5225639_5225649del | CA2573335037 | HBB | c.394_404del (p.Gln132GlyfsTer5) c.*210_*220del (n.*210_*220del) | ClinVar |
| 11 | g.5225641_5225653del | CA2580083906 | HBB | c.389_401del (p.Ala130GlyfsTer25) c.*205_*217del (n.*205_*217del) | ClinVar |
| 11 | g.5225644_5225646delinsTTC | CA1949564512 | HBB | c.396_398delinsGAA (p.Gln132=) c.*212_*214delinsGAA (n.*212_*214delinsGAA) | |
| 11 | g.5225646_5225647del | CA217112393 | HBB | c.396_397del (p.Lys133SerfsTer7) c.*212_*213del (n.*212_*213del) | ClinVar dbSNP |
| 11 | g.5225645_5225662delinsTCTGATAGGCAGCCTGCA | CA1949564524 | HBB | c.380_397delinsTGCAGGCTGCCTATCAGA (p.Val127=) c.*196_*213delinsTGCAGGCTGCCTATCAGA (n.*196_*213delinsTGCAGGCTGCCTATCAGA) | |
| 11 | g.5225646del | CA2739291425 | HBB | c.396del (p.Val134TrpfsTer25) c.*212del (n.*212del) | |
| 11 | g.5225646C>A | CA379273679 | HBB | c.396G>T (p.Gln132His) c.*212G>T (n.*212G>T) | |
| 11 | g.5225646C= | CA1949564536 | HBB | c.396G= (p.Gln132=) c.*212G= (n.*212G=) | |
| 11 | g.5225646C>G | CA125452 | HBB | c.396G>C (p.Gln132His) c.*212G>C (n.*212G>C) | ClinVar dbSNP |
| 11 | g.5225646C>T | CA472638347 | HBB | c.396G>A (p.Gln132=) c.*212G>A (n.*212G>A) | |
| 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.5225647T>A | CA379273680 | HBB | c.395A>T (p.Gln132Leu) c.*211A>T (n.*211A>T) | |
| 11 | g.5225647T>C | CA125391 | HBB | c.395A>G (p.Gln132Arg) c.*211A>G (n.*211A>G) | ClinVar dbSNP |
| 11 | g.5225647T>G | CA125158 | HBB | c.395A>C (p.Gln132Pro) c.*211A>C (n.*211A>C) | ClinVar dbSNP |
| 11 | g.5225647T= | CA1949564547 | HBB | c.395A= (p.Gln132=) c.*211A= (n.*211A=) | |
| 11 | g.5225647dup | CA217112414 | HBB | c.395dup (p.Lys133GlufsTer8) c.*211dup (n.*211dup) | ClinVar dbSNP |
| 11 | g.5225648G>A | CA379273681 | HBB | c.394C>T (p.Gln132Ter) c.*210C>T (n.*210C>T) | ClinVar dbSNP |
| 11 | g.5225648G>C | CA217112422 | HBB | c.394C>G (p.Gln132Glu) c.*210C>G (n.*210C>G) | ClinVar dbSNP gnomAD v4 |
| 11 | g.5225648G= | CA1949564566 | HBB | c.394C= (p.Gln132=) c.*210C= (n.*210C=) | |
| 11 | g.5225648G>T | CA125160 | HBB | c.394C>A (p.Gln132Lys) c.*210C>A (n.*210C>A) | ClinVar dbSNP |
| 11 | g.5225649del | CA2695213005 | HBB | c.393del (p.Gln132ArgfsTer27) c.*209del (n.*209del) | |
| 11 | g.5225649A= | CA1949564582 | HBB | c.393T= (p.Tyr131=) c.*209T= (n.*209T=) | |
| 11 | g.5225649A>C | CA379273682 | HBB | c.393T>G (p.Tyr131Ter) c.*209T>G (n.*209T>G) | |
| 11 | g.5225649A>G | CA472638355 | HBB | c.393T>C (p.Tyr131=) c.*209T>C (n.*209T>C) | |
| 11 | g.5225649A>T | CA217112427 | HBB | c.393T>A (p.Tyr131Ter) c.*209T>A (n.*209T>A) | ClinVar dbSNP |
| 11 | g.5225650T>A | CA379273683 | HBB | c.392A>T (p.Tyr131Phe) c.*208A>T (n.*208A>T) | |
| 11 | g.5225650T>C | CA217112430 | HBB | c.392A>G (p.Tyr131Cys) c.*208A>G (n.*208A>G) | dbSNP |
| 11 | g.5225650T>G | CA125054 | HBB | c.392A>C (p.Tyr131Ser) c.*208A>C (n.*208A>C) | ClinVar dbSNP |
| 11 | g.5225650T= | CA1949564586 | HBB | c.392A= (p.Tyr131=) c.*208A= (n.*208A=) | |
| 11 | g.5225651A= | CA1949564594 | HBB | c.391T= (p.Tyr131=) c.*207T= (n.*207T=) | |
| 11 | g.5225651A>C | CA125233 | HBB | c.391T>G (p.Tyr131Asp) c.*207T>G (n.*207T>G) | ClinVar dbSNP |
| 11 | g.5225651A>G | CA379273684 | HBB | c.391T>C (p.Tyr131His) c.*207T>C (n.*207T>C) | |
| 11 | g.5225651A>T | CA379273685 | HBB | c.391T>A (p.Tyr131Asn) c.*207T>A (n.*207T>A) | |
| 11 | g.5225651dup | CA2695213007 | HBB | c.391dup (p.Tyr131LeufsTer10) c.*207dup (n.*207dup) |