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 |
|---|---|---|---|---|---|
| Y | g.6993095G>A | CA337554593 | TBL1Y | c.-234-2709G>A (n.-234-2709G>A) c.-140+14852G>A (n.-140+14852G>A) | dbSNP gnomAD v3 gnomAD v4 |
| Y | g.6993095G= | CA2469910405 | TBL1Y | c.-234-2709G= (n.-234-2709G=) c.-140+14852G= (n.-140+14852G=) | |
| Y | g.6993111A= | CA2469910406 | TBL1Y | c.-234-2693A= (n.-234-2693A=) c.-140+14868A= (n.-140+14868A=) | |
| Y | g.6993111A>C | CA2739124284 | TBL1Y | c.-234-2693A>C (n.-234-2693A>C) c.-140+14868A>C (n.-140+14868A>C) | dbSNP |
| Y | g.6993111A>G | CA1138865247 | TBL1Y | c.-234-2693A>G (n.-234-2693A>G) c.-140+14868A>G (n.-140+14868A>G) | dbSNP gnomAD v3 gnomAD v4 |
| Y | g.6993115A>G | CA2571200098 | TBL1Y | c.-234-2689A>G (n.-234-2689A>G) c.-140+14872A>G (n.-140+14872A>G) | |
| Y | g.6993119G= | CA2469910407 | TBL1Y | c.-234-2685G= (n.-234-2685G=) c.-140+14876G= (n.-140+14876G=) | |
| Y | g.6993119G>T | CA2469910408 | TBL1Y | c.-234-2685G>T (n.-234-2685G>T) c.-140+14876G>T (n.-140+14876G>T) | dbSNP |
| Y | g.6993131A= | CA2469910409 | TBL1Y | c.-234-2673A= (n.-234-2673A=) c.-140+14888A= (n.-140+14888A=) | |
| Y | g.6993131A>G | CA337554596 | TBL1Y | c.-234-2673A>G (n.-234-2673A>G) c.-140+14888A>G (n.-140+14888A>G) | dbSNP gnomAD v3 gnomAD v4 |
| Y | g.6993132T>C | CA337554598 | TBL1Y | c.-234-2672T>C (n.-234-2672T>C) c.-140+14889T>C (n.-140+14889T>C) | dbSNP |
| Y | g.6993132T= | CA2469910410 | TBL1Y | c.-234-2672T= (n.-234-2672T=) c.-140+14889T= (n.-140+14889T=) | |
| Y | g.6993133G>C | CA1138865252 | TBL1Y | c.-234-2671G>C (n.-234-2671G>C) c.-140+14890G>C (n.-140+14890G>C) | gnomAD v3 gnomAD v4 |
| Y | g.6993137C= | CA2469910411 | TBL1Y | c.-234-2667C= (n.-234-2667C=) c.-140+14894C= (n.-140+14894C=) | |
| Y | g.6993137C>T | CA2469910412 | TBL1Y | c.-234-2667C>T (n.-234-2667C>T) c.-140+14894C>T (n.-140+14894C>T) | dbSNP |
| Y | g.6993138G>A | CA1138865258 | TBL1Y | c.-234-2666G>A (n.-234-2666G>A) c.-140+14895G>A (n.-140+14895G>A) | gnomAD v3 gnomAD v4 |
| Y | g.6993145G>A | CA1138865262 | TBL1Y | c.-234-2659G>A (n.-234-2659G>A) c.-140+14902G>A (n.-140+14902G>A) | gnomAD v3 gnomAD v4 |
| Y | g.6993148T>A | CA2545636622 | TBL1Y | c.-234-2656T>A (n.-234-2656T>A) c.-140+14905T>A (n.-140+14905T>A) | |
| Y | g.6993154C>T | CA2529463240 | TBL1Y | c.-234-2650C>T (n.-234-2650C>T) c.-140+14911C>T (n.-140+14911C>T) | |
| Y | g.6993157G>C | CA2824505569 | TBL1Y | c.-234-2647G>C (n.-234-2647G>C) c.-140+14914G>C (n.-140+14914G>C) | |
| Y | g.6993161G>C | CA2558018944 | TBL1Y | c.-234-2643G>C (n.-234-2643G>C) c.-140+14918G>C (n.-140+14918G>C) | |
| Y | g.6993168T>G | CA1138865263 | TBL1Y | c.-234-2636T>G (n.-234-2636T>G) c.-140+14925T>G (n.-140+14925T>G) | gnomAD v3 gnomAD v4 |
| Y | g.6993170G>C | CA1138865264 | TBL1Y | c.-234-2634G>C (n.-234-2634G>C) c.-140+14927G>C (n.-140+14927G>C) | gnomAD v3 gnomAD v4 |
| Y | g.6993172T>C | CA337554600 | TBL1Y | c.-234-2632T>C (n.-234-2632T>C) c.-140+14929T>C (n.-140+14929T>C) | dbSNP |
| Y | g.6993172T= | CA2469910413 | TBL1Y | c.-234-2632T= (n.-234-2632T=) c.-140+14929T= (n.-140+14929T=) | |
| Y | g.6993176T>C | CA2532565264 | TBL1Y | c.-234-2628T>C (n.-234-2628T>C) c.-140+14933T>C (n.-140+14933T>C) | |
| Y | g.6993187C= | CA2469910414 | TBL1Y | c.-234-2617C= (n.-234-2617C=) c.-140+14944C= (n.-140+14944C=) | |
| Y | g.6993187C>T | CA1138865266 | TBL1Y | c.-234-2617C>T (n.-234-2617C>T) c.-140+14944C>T (n.-140+14944C>T) | dbSNP gnomAD v3 gnomAD v4 |
| Y | g.6993188dup | CA2824505570 | TBL1Y | c.-234-2616dup (n.-234-2616dup) c.-140+14945dup (n.-140+14945dup) | |
| Y | g.6993188_6993190delinsCTT | CA2469910415 | TBL1Y | c.-234-2616_-234-2614delinsCTT (n.-234-2616_-234-2614delinsCTT) c.-140+14945_-140+14947delinsCTT (n.-140+14945_-140+14947delinsCTT) | |
| Y | g.6993189T= | CA2469910417 | TBL1Y | c.-234-2615T= (n.-234-2615T=) c.-140+14946T= (n.-140+14946T=) | |
| Y | g.6993192del | CA1138865270 | TBL1Y | c.-234-2612del (n.-234-2612del) c.-140+14949del (n.-140+14949del) | dbSNP gnomAD v3 gnomAD v4 |
| Y | g.6993191_6993192del | CA1138865269 | TBL1Y | c.-234-2613_-234-2612del (n.-234-2613_-234-2612del) c.-140+14948_-140+14949del (n.-140+14948_-140+14949del) | dbSNP gnomAD v3 gnomAD v4 |
| Y | g.6993189_6993197delinsTTTTCTTTC | CA2469910416 | TBL1Y | c.-234-2615_-234-2607delinsTTTTCTTTC (n.-234-2615_-234-2607delinsTTTTCTTTC) c.-140+14946_-140+14954delinsTTTTCTTTC (n.-140+14946_-140+14954delinsTTTTCTTTC) | |
| Y | g.6993190T>C | CA337554602 | TBL1Y | c.-234-2614T>C (n.-234-2614T>C) c.-140+14947T>C (n.-140+14947T>C) | dbSNP |
| Y | g.6993190T= | CA2469910418 | TBL1Y | c.-234-2614T= (n.-234-2614T=) c.-140+14947T= (n.-140+14947T=) | |
| Y | g.6993191_6993192insCTT | CA2824505572 | TBL1Y | c.-234-2613_-234-2612insCTT (n.-234-2613_-234-2612insCTT) c.-140+14948_-140+14949insCTT (n.-140+14948_-140+14949insCTT) | |
| Y | g.6993191_6993192insCCTT | CA1138865378 | TBL1Y | c.-234-2613_-234-2612insCCTT (n.-234-2613_-234-2612insCCTT) c.-140+14948_-140+14949insCCTT (n.-140+14948_-140+14949insCCTT) | gnomAD v3 gnomAD v4 |
| Y | g.6993191_6993192insCCTTTCTT | CA1138865386 | TBL1Y | c.-234-2613_-234-2612insCCTTTCTT (n.-234-2613_-234-2612insCCTTTCTT) c.-140+14948_-140+14949insCCTTTCTT (n.-140+14948_-140+14949insCCTTTCTT) | gnomAD v3 gnomAD v4 |
| Y | g.6993191_6993192insCCTTTCTTTCTT | CA1138865392 | TBL1Y | c.-234-2613_-234-2612insCCTTTCTTTCTT (n.-234-2613_-234-2612insCCTTTCTTTCTT) c.-140+14948_-140+14949insCCTTTCTTTCTT (n.-140+14948_-140+14949insCCTTTCTTTCTT) | gnomAD v3 gnomAD v4 |
| Y | g.6993191_6993192insCCTTTCCTTTCTT | CA1138865388 | TBL1Y | c.-234-2613_-234-2612insCCTTTCCTTTCTT (n.-234-2613_-234-2612insCCTTTCCTTTCTT) c.-140+14948_-140+14949insCCTTTCCTTTCTT (n.-140+14948_-140+14949insCCTTTCCTTTCTT) | dbSNP gnomAD v3 gnomAD v4 |
| Y | g.6993191_6993192insCCTTTCTTTCTTTCTT | CA1138865409 | TBL1Y | c.-234-2613_-234-2612insCCTTTCTTTCTTTCTT (n.-234-2613_-234-2612insCCTTTCTTTCTTTCTT) c.-140+14948_-140+14949insCCTTTCTTTCTTTCTT (n.-140+14948_-140+14949insCCTTTCTTTCTTTCTT) | gnomAD v3 gnomAD v4 |
| Y | g.6993191_6993192insCCTTTCTTTCTTTCTTTCTT | CA1138865410 | TBL1Y | c.-234-2613_-234-2612insCCTTTCTTTCTTTCTTTCTT (n.-234-2613_-234-2612insCCTTTCTTTCTTTCTTTCTT) c.-140+14948_-140+14949insCCTTTCTTTCTTTCTTTCTT (n.-140+14948_-140+14949insCCTTTCTTTCTTTCTTTCTT) | gnomAD v3 gnomAD v4 |
| Y | g.6993191_6993192insCCTTTCTTTCTTTCTTTCTTTCTT | CA1138865458 | TBL1Y | c.-234-2613_-234-2612insCCTTTCTTTCTTTCTTTCTTTCTT (n.-234-2613_-234-2612insCCTTTCTTTCTTTCTTTCTTTCTT) c.-140+14948_-140+14949insCCTTTCTTTCTTTCTTTCTTTCTT (n.-140+14948_-140+14949insCCTTTCTTTCTTTCTTTCTTTCTT) | gnomAD v3 gnomAD v4 |
| Y | g.6993191_6993192insCCTTTCTTTCTTTCTTTCTTTCTTTCTT | CA2509943907 | TBL1Y | c.-234-2613_-234-2612insCCTTTCTTTCTTTCTTTCTTTCTTTCTT (n.-234-2613_-234-2612insCCTTTCTTTCTTTCTTTCTTTCTTTCTT) c.-140+14948_-140+14949insCCTTTCTTTCTTTCTTTCTTTCTTTCTT (n.-140+14948_-140+14949insCCTTTCTTTCTTTCTTTCTTTCTTTCTT) | |
| Y | g.6993190_6993193delinsTTTC | CA2469910419 | TBL1Y | c.-234-2614_-234-2611delinsTTTC (n.-234-2614_-234-2611delinsTTTC) c.-140+14947_-140+14950delinsTTTC (n.-140+14947_-140+14950delinsTTTC) | |
| Y | g.6993193_6993194insCTTCTTTC | CA1138865414 | TBL1Y | c.-234-2611_-234-2610insCTTCTTTC (n.-234-2611_-234-2610insCTTCTTTC) c.-140+14950_-140+14951insCTTCTTTC (n.-140+14950_-140+14951insCTTCTTTC) | gnomAD v3 gnomAD v4 |
| Y | g.6993195_6993196insCCTTTCTT | CA1138865421 | TBL1Y | c.-234-2609_-234-2608insCCTTTCTT (n.-234-2609_-234-2608insCCTTTCTT) c.-140+14952_-140+14953insCCTTTCTT (n.-140+14952_-140+14953insCCTTTCTT) | dbSNP gnomAD v3 gnomAD v4 |
| Y | g.6993198_6993199insGTCTTTCTTTCT | CA2824505571 | TBL1Y | c.-234-2606_-234-2605insGTCTTTCTTTCT (n.-234-2606_-234-2605insGTCTTTCTTTCT) c.-140+14955_-140+14956insGTCTTTCTTTCT (n.-140+14955_-140+14956insGTCTTTCTTTCT) | |
| Y | g.6993199_6993200insCCTTTCTTTCTTTCTT | CA1138865443 | TBL1Y | c.-234-2605_-234-2604insCCTTTCTTTCTTTCTT (n.-234-2605_-234-2604insCCTTTCTTTCTTTCTT) c.-140+14956_-140+14957insCCTTTCTTTCTTTCTT (n.-140+14956_-140+14957insCCTTTCTTTCTTTCTT) | dbSNP gnomAD v3 gnomAD v4 |