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.5225634_5225645delinsAGCCACCACTTT | CA1949564412 | HBB | c.397_408delinsAAAGTGGTGGCT (p.Lys133=) c.*213_*224delinsAAAGTGGTGGCT (n.*213_*224delinsAAAGTGGTGGCT) | |
| 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.5225639_5225649del | CA2573335037 | HBB | c.394_404del (p.Gln132GlyfsTer5) c.*210_*220del (n.*210_*220del) | ClinVar |
| 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 |
| 11 | g.5225642C>A | CA379273676 | HBB | c.400G>T (p.Val134Leu) c.*216G>T (n.*216G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.5225642C= | CA1949564482 | HBB | c.400G= (p.Val134=) c.*216G= (n.*216G=) | |
| 11 | g.5225642C>G | CA124841 | HBB | c.400G>C (p.Val134Leu) c.*216G>C (n.*216G>C) | ClinVar dbSNP |
| 11 | g.5225642C>T | CA217112381 | HBB | c.400G>A (p.Val134Met) c.*216G>A (n.*216G>A) | dbSNP |
| 11 | g.5225643T>A | CA217112387 | HBB | c.399A>T (p.Lys133Asn) c.*215A>T (n.*215A>T) | ClinVar dbSNP |
| 11 | g.5225643T>C | CA472638338 | HBB | c.399A>G (p.Lys133=) c.*215A>G (n.*215A>G) | dbSNP gnomAD v4 COSMIC |
| 11 | g.5225643T>G | CA217112390 | HBB | c.399A>C (p.Lys133Asn) c.*215A>C (n.*215A>C) | dbSNP |
| 11 | g.5225643T= | CA1949564508 | HBB | c.399A= (p.Lys133=) c.*215A= (n.*215A=) | |
| 11 | g.5225645del | CA2573335018 | HBB | c.399del (p.Val134TrpfsTer25) c.*215del (n.*215del) | |
| 11 | g.5225644T>A | CA379273677 | HBB | c.398A>T (p.Lys133Ile) c.*214A>T (n.*214A>T) | |
| 11 | g.5225644T>C | CA379273678 | HBB | c.398A>G (p.Lys133Arg) c.*214A>G (n.*214A>G) | COSMIC |
| 11 | g.5225644T>G | CA217112391 | HBB | c.398A>C (p.Lys133Thr) c.*214A>C (n.*214A>C) | dbSNP |
| 11 | g.5225644T= | CA1949564515 | HBB | c.398A= (p.Lys133=) c.*214A= (n.*214A=) | |
| 11 | g.5225644_5225646delinsTTC | CA1949564512 | HBB | c.396_398delinsGAA (p.Gln132=) c.*212_*214delinsGAA (n.*212_*214delinsGAA) | |
| 11 | g.5225645T>A | CA217112395 | HBB | c.397A>T (p.Lys133Ter) c.*213A>T (n.*213A>T) | ClinVar dbSNP |
| 11 | g.5225645T>C | CA217112400 | HBB | c.397A>G (p.Lys133Glu) c.*213A>G (n.*213A>G) | dbSNP |
| 11 | g.5225645T>G | CA124973 | HBB | c.397A>C (p.Lys133Gln) c.*213A>C (n.*213A>C) | ClinVar dbSNP gnomAD v4 |
| 11 | g.5225645T= | CA1949564528 | HBB | c.397A= (p.Lys133=) c.*213A= (n.*213A=) | |
| 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) |