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 |
|---|---|---|---|---|---|
| 6 | g.7582933_7587670delinsAGAACAGTCTT | CA2580075482 | ClinVar | ||
| 6 | g.7582933_7587670delinsAGAGAAGAACAGTCTT | CA915944145 | ClinVar | ||
| 6 | g.7582934_7587655del | CA2695202641 | |||
| 6 | g.7583301_7585800del | CA006686 | DSP | c.4710_7209del (p.Gly1571GlufsTer?) c.6039_8538del (p.Gly2014GlufsTer?) c.4242_6741del (p.Gly1415GlufsTer?) | |
| 6 | g.7584942G>A | CA362693541 | DSP | c.6351G>A (p.Met2117Ile) c.7680G>A (p.Met2560Ile) c.5883G>A (p.Met1961Ile) | |
| 6 | g.7584942G>C | CA362693542 | DSP | c.6351G>C (p.Met2117Ile) c.7680G>C (p.Met2560Ile) c.5883G>C (p.Met1961Ile) | |
| 6 | g.7584942G>T | CA362693543 | DSP | c.6351G>T (p.Met2117Ile) c.7680G>T (p.Met2560Ile) c.5883G>T (p.Met1961Ile) | |
| 6 | g.7584943A>C | CA362693546 | DSP | c.6352A>C (p.Ile2118Leu) c.7681A>C (p.Ile2561Leu) c.5884A>C (p.Ile1962Leu) | |
| 6 | g.7584943A>G | CA362693544 | DSP | c.6352A>G (p.Ile2118Val) c.7681A>G (p.Ile2561Val) c.5884A>G (p.Ile1962Val) | |
| 6 | g.7584943A>T | CA362693545 | DSP | c.6352A>T (p.Ile2118Phe) c.7681A>T (p.Ile2561Phe) c.5884A>T (p.Ile1962Phe) | |
| 6 | g.7584944T>A | CA362693547 | DSP | c.6353T>A (p.Ile2118Asn) c.7682T>A (p.Ile2561Asn) c.5885T>A (p.Ile1962Asn) | dbSNP |
| 6 | g.7584944T>C | CA362693548 | DSP | c.6353T>C (p.Ile2118Thr) c.7682T>C (p.Ile2561Thr) c.5885T>C (p.Ile1962Thr) | |
| 6 | g.7584944T>G | CA362693549 | DSP | c.6353T>G (p.Ile2118Ser) c.7682T>G (p.Ile2561Ser) c.5885T>G (p.Ile1962Ser) | |
| 6 | g.7584944T= | CA1608612738 | DSP | c.6353T= (p.Ile2118=) c.7682T= (p.Ile2561=) c.5885T= (p.Ile1962=) | |
| 6 | g.7584944_7584947delinsTCTC | CA1608612740 | DSP | c.6353_6356delinsTCTC (p.Ile2118=) c.7682_7685delinsTCTC (p.Ile2561=) c.5885_5888delinsTCTC (p.Ile1962=) | |
| 6 | g.7584945C>A | CA448717057 | DSP | c.6354C>A (p.Ile2118=) c.7683C>A (p.Ile2561=) c.5886C>A (p.Ile1962=) | |
| 6 | g.7584945C>G | CA362693550 | DSP | c.6354C>G (p.Ile2118Met) c.7683C>G (p.Ile2561Met) c.5886C>G (p.Ile1962Met) | |
| 6 | g.7584945C>T | CA448717059 | DSP | c.6354C>T (p.Ile2118=) c.7683C>T (p.Ile2561=) c.5886C>T (p.Ile1962=) | |
| 6 | g.7584947_7584949del | CA050453 | DSP | c.6356_6358del (p.Ser2119del) c.7685_7687del (p.Ser2562del) c.5888_5890del (p.Ser1963del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7584946T>A | CA362693551 | DSP | c.6355T>A (p.Ser2119Thr) c.7684T>A (p.Ser2562Thr) c.5887T>A (p.Ser1963Thr) | |
| 6 | g.7584946T>C | CA362693552 | DSP | c.6355T>C (p.Ser2119Pro) c.7684T>C (p.Ser2562Pro) c.5887T>C (p.Ser1963Pro) | gnomAD v4 |
| 6 | g.7584946T>G | CA362693553 | DSP | c.6355T>G (p.Ser2119Ala) c.7684T>G (p.Ser2562Ala) c.5887T>G (p.Ser1963Ala) | |
| 6 | g.7584947C>A | CA362693554 | DSP | c.6356C>A (p.Ser2119Tyr) c.7685C>A (p.Ser2562Tyr) c.5888C>A (p.Ser1963Tyr) | |
| 6 | g.7584947C>G | CA362693555 | DSP | c.6356C>G (p.Ser2119Cys) c.7685C>G (p.Ser2562Cys) c.5888C>G (p.Ser1963Cys) | |
| 6 | g.7584947C>T | CA362693556 | DSP | c.6356C>T (p.Ser2119Phe) c.7685C>T (p.Ser2562Phe) c.5888C>T (p.Ser1963Phe) | |
| 6 | g.7584948C>A | CA448717066 | DSP | c.6357C>A (p.Ser2119=) c.7686C>A (p.Ser2562=) c.5889C>A (p.Ser1963=) | |
| 6 | g.7584948C>G | CA448717069 | DSP | c.6357C>G (p.Ser2119=) c.7686C>G (p.Ser2562=) c.5889C>G (p.Ser1963=) | |
| 6 | g.7584948C>T | CA448717070 | DSP | c.6357C>T (p.Ser2119=) c.7686C>T (p.Ser2562=) c.5889C>T (p.Ser1963=) | gnomAD v4 |
| 6 | g.7584949T>A | CA362693557 | DSP | c.6358T>A (p.Leu2120Met) c.7687T>A (p.Leu2563Met) c.5890T>A (p.Leu1964Met) | |
| 6 | g.7584949T>C | CA448717073 | DSP | c.6358T>C (p.Leu2120=) c.7687T>C (p.Leu2563=) c.5890T>C (p.Leu1964=) | |
| 6 | g.7584949T>G | CA362693558 | DSP | c.6358T>G (p.Leu2120Val) c.7687T>G (p.Leu2563Val) c.5890T>G (p.Leu1964Val) | |
| 6 | g.7584950T>A | CA362693559 | DSP | c.6359T>A (p.Leu2120Ter) c.7688T>A (p.Leu2563Ter) c.5891T>A (p.Leu1964Ter) | |
| 6 | g.7584950T>C | CA362693561 | DSP | c.6359T>C (p.Leu2120Ser) c.7688T>C (p.Leu2563Ser) c.5891T>C (p.Leu1964Ser) | |
| 6 | g.7584950T>G | CA362693560 | DSP | c.6359T>G (p.Leu2120Trp) c.7688T>G (p.Leu2563Trp) c.5891T>G (p.Leu1964Trp) | |
| 6 | g.7584950T= | CA1608612751 | DSP | c.6359T= (p.Leu2120=) c.7688T= (p.Leu2563=) c.5891T= (p.Leu1964=) | |
| 6 | g.7584951G>A | CA448717074 | DSP | c.6360G>A (p.Leu2120=) c.7689G>A (p.Leu2563=) c.5892G>A (p.Leu1964=) | dbSNP |
| 6 | g.7584951G>C | CA362693562 | DSP | c.6360G>C (p.Leu2120Phe) c.7689G>C (p.Leu2563Phe) c.5892G>C (p.Leu1964Phe) | ClinVar |
| 6 | g.7584951G= | CA1608612756 | DSP | c.6360G= (p.Leu2120=) c.7689G= (p.Leu2563=) c.5892G= (p.Leu1964=) | |
| 6 | g.7584951G>T | CA362693563 | DSP | c.6360G>T (p.Leu2120Phe) c.7689G>T (p.Leu2563Phe) c.5892G>T (p.Leu1964Phe) | |
| 6 | g.7584951_7584956dup | CA16612051 | DSP | c.6360_6365dup (p.Lys2121_Asn2122insLysLys) c.7689_7694dup (p.Lys2564_Asn2565insLysLys) c.5892_5897dup (p.Lys1965_Asn1966insLysLys) | ClinVar dbSNP |
| 6 | g.7584952A>C | CA362693564 | DSP | c.6361A>C (p.Lys2121Gln) c.7690A>C (p.Lys2564Gln) c.5893A>C (p.Lys1965Gln) | |
| 6 | g.7584952A>G | CA362693565 | DSP | c.6361A>G (p.Lys2121Glu) c.7690A>G (p.Lys2564Glu) c.5893A>G (p.Lys1965Glu) | |
| 6 | g.7584952A>T | CA362693566 | DSP | c.6361A>T (p.Lys2121Ter) c.7690A>T (p.Lys2564Ter) c.5893A>T (p.Lys1965Ter) | |
| 6 | g.7584953A>C | CA362693567 | DSP | c.6362A>C (p.Lys2121Thr) c.7691A>C (p.Lys2564Thr) c.5894A>C (p.Lys1965Thr) | |
| 6 | g.7584953A>G | CA362693568 | DSP | c.6362A>G (p.Lys2121Arg) c.7691A>G (p.Lys2564Arg) c.5894A>G (p.Lys1965Arg) | |
| 6 | g.7584953A>T | CA362693569 | DSP | c.6362A>T (p.Lys2121Ile) c.7691A>T (p.Lys2564Ile) c.5894A>T (p.Lys1965Ile) | |
| 6 | g.7584954A= | CA1608612762 | DSP | c.6363A= (p.Lys2121=) c.7692A= (p.Lys2564=) c.5895A= (p.Lys1965=) | |
| 6 | g.7584954A>C | CA362693570 | DSP | c.6363A>C (p.Lys2121Asn) c.7692A>C (p.Lys2564Asn) c.5895A>C (p.Lys1965Asn) | dbSNP |
| 6 | g.7584954A>G | CA448717081 | DSP | c.6363A>G (p.Lys2121=) c.7692A>G (p.Lys2564=) c.5895A>G (p.Lys1965=) | |
| 6 | g.7584954A>T | CA362693571 | DSP | c.6363A>T (p.Lys2121Asn) c.7692A>T (p.Lys2564Asn) c.5895A>T (p.Lys1965Asn) |