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.6993002_6993003insAAATGTAT | CA2824505553 | TBL1Y | c.-234-2802_-234-2801insAAATGTAT (n.-234-2802_-234-2801insAAATGTAT) c.-140+14759_-140+14760insAAATGTAT (n.-140+14759_-140+14760insAAATGTAT) | |
| Y | g.6993002_6993003insGAATGTATCATTATTATGTCCCTCTTGGAATCTATTATTCGTTAATAATGAATTAATAACTAGTTTTCTAGTTACTAATCCTAA | CA2550707690 | TBL1Y | c.-234-2802_-234-2801insGAATGTATCATTATTATGTCCCTCTTGGAATCTATTATTCGTTAATAATGAATTAATAACTAGTTTTCTAGTTACTAATCCTAA (n.-234-2802_-234-2801insGAATGTATCATTATTATGTCCCTCTTGGAATCTATTATTCGTTAATAATGAATTAATAACTAGTTTTCTAGTTACTAATCCTAA) c.-140+14759_-140+14760insGAATGTATCATTATTATGTCCCTCTTGGAATCTATTATTCGTTAATAATGAATTAATAACTAGTTTTCTAGTTACTAATCCTAA (n.-140+14759_-140+14760insGAATGTATCATTATTATGTCCCTCTTGGAATCTATTATTCGTTAATAATGAATTAATAACTAGTTTTCTAGTTACTAATCCTAA) | |
| Y | g.6993004_6993005insTT | CA2824505554 | TBL1Y | c.-234-2800_-234-2799insTT (n.-234-2800_-234-2799insTT) c.-140+14761_-140+14762insTT (n.-140+14761_-140+14762insTT) | |
| Y | g.6993006_6993007insGTATTTTTAGAATCTATTACAGGCA | CA2502849545 | TBL1Y | c.-234-2798_-234-2797insGTATTTTTAGAATCTATTACAGGCA (n.-234-2798_-234-2797insGTATTTTTAGAATCTATTACAGGCA) c.-140+14763_-140+14764insGTATTTTTAGAATCTATTACAGGCA (n.-140+14763_-140+14764insGTATTTTTAGAATCTATTACAGGCA) | |
| Y | g.6993008_6993012delinsGCTGT | CA2469910397 | TBL1Y | c.-234-2796_-234-2792delinsGCTGT (n.-234-2796_-234-2792delinsGCTGT) c.-140+14765_-140+14769delinsGCTGT (n.-140+14765_-140+14769delinsGCTGT) | |
| Y | g.6993008_6993009insTGTCCTTCTTGGAATCTATTATTCGTTAACAATGAATTAATAACGAGTTTTCTAGTTA | CA2824505555 | TBL1Y | c.-234-2796_-234-2795insTGTCCTTCTTGGAATCTATTATTCGTTAACAATGAATTAATAACGAGTTTTCTAGTTA (n.-234-2796_-234-2795insTGTCCTTCTTGGAATCTATTATTCGTTAACAATGAATTAATAACGAGTTTTCTAGTTA) c.-140+14765_-140+14766insTGTCCTTCTTGGAATCTATTATTCGTTAACAATGAATTAATAACGAGTTTTCTAGTTA (n.-140+14765_-140+14766insTGTCCTTCTTGGAATCTATTATTCGTTAACAATGAATTAATAACGAGTTTTCTAGTTA) | |
| Y | g.6993011_6993014del | CA1138865226 | TBL1Y | c.-234-2793_-234-2790del (n.-234-2793_-234-2790del) c.-140+14768_-140+14771del (n.-140+14768_-140+14771del) | dbSNP gnomAD v3 gnomAD v4 |
| Y | g.6993011G>A | CA2824505556 | TBL1Y | c.-234-2793G>A (n.-234-2793G>A) c.-140+14768G>A (n.-140+14768G>A) | |
| Y | g.6993017T>C | CA1138865228 | TBL1Y | c.-234-2787T>C (n.-234-2787T>C) c.-140+14774T>C (n.-140+14774T>C) | gnomAD v3 gnomAD v4 |
| Y | g.6993022A>G | CA2824505557 | TBL1Y | c.-234-2782A>G (n.-234-2782A>G) c.-140+14779A>G (n.-140+14779A>G) | |
| Y | g.6993023_6993024insTGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2824505558 | TBL1Y | c.-234-2781_-234-2780insTGGGGGGGGGGGGGGGGGGGGGGGGGG (n.-234-2781_-234-2780insTGGGGGGGGGGGGGGGGGGGGGGGGGG) c.-140+14780_-140+14781insTGGGGGGGGGGGGGGGGGGGGGGGGGG (n.-140+14780_-140+14781insTGGGGGGGGGGGGGGGGGGGGGGGGGG) | |
| Y | g.6993024G>T | CA2537980039 | TBL1Y | c.-234-2780G>T (n.-234-2780G>T) c.-140+14781G>T (n.-140+14781G>T) | |
| Y | g.6993025A>G | CA2824505559 | TBL1Y | c.-234-2779A>G (n.-234-2779A>G) c.-140+14782A>G (n.-140+14782A>G) | |
| Y | g.6993026G>C | CA337554582 | TBL1Y | c.-234-2778G>C (n.-234-2778G>C) c.-140+14783G>C (n.-140+14783G>C) | dbSNP gnomAD v3 gnomAD v4 |
| Y | g.6993026G= | CA2469910398 | TBL1Y | c.-234-2778G= (n.-234-2778G=) c.-140+14783G= (n.-140+14783G=) | |
| Y | g.6993027_6993030del | CA2824505560 | TBL1Y | c.-234-2777_-234-2774del (n.-234-2777_-234-2774del) c.-140+14784_-140+14787del (n.-140+14784_-140+14787del) | |
| Y | g.6993032G>T | CA2528001673 | TBL1Y | c.-234-2772G>T (n.-234-2772G>T) c.-140+14789G>T (n.-140+14789G>T) | |
| Y | g.6993033A>G | CA2505324296 | TBL1Y | c.-234-2771A>G (n.-234-2771A>G) c.-140+14790A>G (n.-140+14790A>G) | gnomAD v3 gnomAD v4 |
| Y | g.6993034G>A | CA337554584 | TBL1Y | c.-234-2770G>A (n.-234-2770G>A) c.-140+14791G>A (n.-140+14791G>A) | dbSNP gnomAD v3 gnomAD v4 |
| Y | g.6993034G= | CA2469910399 | TBL1Y | c.-234-2770G= (n.-234-2770G=) c.-140+14791G= (n.-140+14791G=) | |
| Y | g.6993035_6993038del | CA2824505561 | TBL1Y | c.-234-2769_-234-2766del (n.-234-2769_-234-2766del) c.-140+14792_-140+14795del (n.-140+14792_-140+14795del) | |
| Y | g.6993038A>G | CA2504261731 | TBL1Y | c.-234-2766A>G (n.-234-2766A>G) c.-140+14795A>G (n.-140+14795A>G) | |
| Y | g.6993039G>C | CA2589275096 | TBL1Y | c.-234-2765G>C (n.-234-2765G>C) c.-140+14796G>C (n.-140+14796G>C) | gnomAD v3 gnomAD v4 |
| Y | g.6993040T>G | CA2824505562 | TBL1Y | c.-234-2764T>G (n.-234-2764T>G) c.-140+14797T>G (n.-140+14797T>G) | |
| Y | g.6993041G>C | CA337554586 | TBL1Y | c.-234-2763G>C (n.-234-2763G>C) c.-140+14798G>C (n.-140+14798G>C) | dbSNP gnomAD v3 gnomAD v4 |
| Y | g.6993041G= | CA2469910400 | TBL1Y | c.-234-2763G= (n.-234-2763G=) c.-140+14798G= (n.-140+14798G=) | |
| Y | g.6993042_6993053del | CA2824505563 | TBL1Y | c.-234-2762_-234-2751del (n.-234-2762_-234-2751del) c.-140+14799_-140+14810del (n.-140+14799_-140+14810del) | |
| Y | g.6993054G= | CA2469910401 | TBL1Y | c.-234-2750G= (n.-234-2750G=) c.-140+14811G= (n.-140+14811G=) | |
| Y | g.6993054G>T | CA1138865237 | TBL1Y | c.-234-2750G>T (n.-234-2750G>T) c.-140+14811G>T (n.-140+14811G>T) | dbSNP gnomAD v3 gnomAD v4 |
| Y | g.6993055T>G | CA2824505564 | TBL1Y | c.-234-2749T>G (n.-234-2749T>G) c.-140+14812T>G (n.-140+14812T>G) | |
| Y | g.6993057_6993063del | CA2824505565 | TBL1Y | c.-234-2747_-234-2741del (n.-234-2747_-234-2741del) c.-140+14814_-140+14820del (n.-140+14814_-140+14820del) | |
| Y | g.6993061G>C | CA2824505566 | TBL1Y | c.-234-2743G>C (n.-234-2743G>C) c.-140+14818G>C (n.-140+14818G>C) | |
| Y | g.6993063T>A | CA2507809794 | TBL1Y | c.-234-2741T>A (n.-234-2741T>A) c.-140+14820T>A (n.-140+14820T>A) | |
| Y | g.6993065T>G | CA2824505567 | TBL1Y | c.-234-2739T>G (n.-234-2739T>G) c.-140+14822T>G (n.-140+14822T>G) | |
| Y | g.6993067A= | CA2469910402 | TBL1Y | c.-234-2737A= (n.-234-2737A=) c.-140+14824A= (n.-140+14824A=) | |
| Y | g.6993067A>G | CA337554588 | TBL1Y | c.-234-2737A>G (n.-234-2737A>G) c.-140+14824A>G (n.-140+14824A>G) | dbSNP |
| Y | g.6993076A= | CA2469910403 | TBL1Y | c.-234-2728A= (n.-234-2728A=) c.-140+14833A= (n.-140+14833A=) | |
| Y | g.6993076A>G | CA337554590 | TBL1Y | c.-234-2728A>G (n.-234-2728A>G) c.-140+14833A>G (n.-140+14833A>G) | dbSNP gnomAD v3 gnomAD v4 |
| Y | g.6993079G>C | CA2824505568 | TBL1Y | c.-234-2725G>C (n.-234-2725G>C) c.-140+14836G>C (n.-140+14836G>C) | |
| Y | g.6993085A= | CA2469910404 | TBL1Y | c.-234-2719A= (n.-234-2719A=) c.-140+14842A= (n.-140+14842A=) | |
| Y | g.6993085A>G | CA1138865244 | TBL1Y | c.-234-2719A>G (n.-234-2719A>G) c.-140+14842A>G (n.-140+14842A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 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=) |