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 |
|---|---|---|---|---|---|
| 12 | g.66211135_66211149delinsCACATTGACCTAATG | CA2042909485 | IRAK3 | c.437-311_437-297delinsCACATTGACCTAATG (n.437-311_437-297delinsCACATTGACCTAATG) c.254-311_254-297delinsCACATTGACCTAATG (n.254-311_254-297delinsCACATTGACCTAATG) | |
| 12 | g.66211138_66211151del | CA2042909486 | IRAK3 | c.437-308_437-295del (n.437-308_437-295del) c.254-308_254-295del (n.254-308_254-295del) | dbSNP |
| 12 | g.66211142A= | CA2042909494 | IRAK3 | c.437-304A= (n.437-304A=) c.254-304A= (n.254-304A=) | |
| 12 | g.66211142A>G | CA2042909495 | IRAK3 | c.437-304A>G (n.437-304A>G) c.254-304A>G (n.254-304A>G) | dbSNP |
| 12 | g.66211144C>T | CA2560210026 | IRAK3 | c.437-302C>T (n.437-302C>T) c.254-302C>T (n.254-302C>T) | |
| 12 | g.66211146A= | CA2042909497 | IRAK3 | c.437-300A= (n.437-300A=) c.254-300A= (n.254-300A=) | |
| 12 | g.66211146A>C | CA238340462 | IRAK3 | c.437-300A>C (n.437-300A>C) c.254-300A>C (n.254-300A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.66211151C>G | CA2796354912 | IRAK3 | c.437-295C>G (n.437-295C>G) c.254-295C>G (n.254-295C>G) | |
| 12 | g.66211159T>C | CA2726606137 | IRAK3 | c.437-287T>C (n.437-287T>C) c.254-287T>C (n.254-287T>C) | dbSNP |
| 12 | g.66211160T>G | CA2726606138 | IRAK3 | c.437-286T>G (n.437-286T>G) c.254-286T>G (n.254-286T>G) | dbSNP |
| 12 | g.66211165C>A | CA238340468 | IRAK3 | c.437-281C>A (n.437-281C>A) c.254-281C>A (n.254-281C>A) | dbSNP |
| 12 | g.66211165C= | CA2042909502 | IRAK3 | c.437-281C= (n.437-281C=) c.254-281C= (n.254-281C=) | |
| 12 | g.66211165C>T | CA238340472 | IRAK3 | c.437-281C>T (n.437-281C>T) c.254-281C>T (n.254-281C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.66211167T>G | CA2042909505 | IRAK3 | c.437-279T>G (n.437-279T>G) c.254-279T>G (n.254-279T>G) | dbSNP |
| 12 | g.66211167T= | CA2042909504 | IRAK3 | c.437-279T= (n.437-279T=) c.254-279T= (n.254-279T=) | |
| 12 | g.66211172G= | CA2042909508 | IRAK3 | c.437-274G= (n.437-274G=) c.254-274G= (n.254-274G=) | |
| 12 | g.66211172G>T | CA691113361 | IRAK3 | c.437-274G>T (n.437-274G>T) c.254-274G>T (n.254-274G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.66211174A= | CA2042909511 | IRAK3 | c.437-272A= (n.437-272A=) c.254-272A= (n.254-272A=) | |
| 12 | g.66211174A>C | CA2042909513 | IRAK3 | c.437-272A>C (n.437-272A>C) c.254-272A>C (n.254-272A>C) | dbSNP |
| 12 | g.66211184C= | CA2042909515 | IRAK3 | c.437-262C= (n.437-262C=) c.254-262C= (n.254-262C=) | |
| 12 | g.66211184C>T | CA691113362 | IRAK3 | c.437-262C>T (n.437-262C>T) c.254-262C>T (n.254-262C>T) | dbSNP |
| 12 | g.66211185T>C | CA238340474 | IRAK3 | c.437-261T>C (n.437-261T>C) c.254-261T>C (n.254-261T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.66211185T= | CA2042909518 | IRAK3 | c.437-261T= (n.437-261T=) c.254-261T= (n.254-261T=) | |
| 12 | g.66211187A= | CA2042909541 | IRAK3 | c.437-259A= (n.437-259A=) c.254-259A= (n.254-259A=) | |
| 12 | g.66211187A>G | CA691113371 | IRAK3 | c.437-259A>G (n.437-259A>G) c.254-259A>G (n.254-259A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.66211188G>A | CA2796354913 | IRAK3 | c.437-258G>A (n.437-258G>A) c.254-258G>A (n.254-258G>A) | |
| 12 | g.66211189C= | CA2042909544 | IRAK3 | c.437-257C= (n.437-257C=) c.254-257C= (n.254-257C=) | |
| 12 | g.66211189C>T | CA948696861 | IRAK3 | c.437-257C>T (n.437-257C>T) c.254-257C>T (n.254-257C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.66211195G>A | CA655164300 | IRAK3 | c.437-251G>A (n.437-251G>A) c.254-251G>A (n.254-251G>A) | COSMIC |
| 12 | g.66211196G= | CA2042909547 | IRAK3 | c.437-250G= (n.437-250G=) c.254-250G= (n.254-250G=) | |
| 12 | g.66211196G>T | CA2042909548 | IRAK3 | c.437-250G>T (n.437-250G>T) c.254-250G>T (n.254-250G>T) | dbSNP |
| 12 | g.66211198T>C | CA691113373 | IRAK3 | c.437-248T>C (n.437-248T>C) c.254-248T>C (n.254-248T>C) | dbSNP |
| 12 | g.66211198T= | CA2042909551 | IRAK3 | c.437-248T= (n.437-248T=) c.254-248T= (n.254-248T=) | |
| 12 | g.66211199G>C | CA2042909555 | IRAK3 | c.437-247G>C (n.437-247G>C) c.254-247G>C (n.254-247G>C) | dbSNP |
| 12 | g.66211199G= | CA2042909554 | IRAK3 | c.437-247G= (n.437-247G=) c.254-247G= (n.254-247G=) | |
| 12 | g.66211205T>A | CA691113374 | IRAK3 | c.437-241T>A (n.437-241T>A) c.254-241T>A (n.254-241T>A) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.66211205T= | CA2042909557 | IRAK3 | c.437-241T= (n.437-241T=) c.254-241T= (n.254-241T=) | |
| 12 | g.66211206T>G | CA691113375 | IRAK3 | c.437-240T>G (n.437-240T>G) c.254-240T>G (n.254-240T>G) | dbSNP |
| 12 | g.66211206T= | CA2042909559 | IRAK3 | c.437-240T= (n.437-240T=) c.254-240T= (n.254-240T=) | |
| 12 | g.66211208T>C | CA238340476 | IRAK3 | c.437-238T>C (n.437-238T>C) c.254-238T>C (n.254-238T>C) | dbSNP |
| 12 | g.66211208T= | CA2042909562 | IRAK3 | c.437-238T= (n.437-238T=) c.254-238T= (n.254-238T=) | |
| 12 | g.66211210A= | CA2042909563 | IRAK3 | c.437-236A= (n.437-236A=) c.254-236A= (n.254-236A=) | |
| 12 | g.66211210A>G | CA2042909565 | IRAK3 | c.437-236A>G (n.437-236A>G) c.254-236A>G (n.254-236A>G) | dbSNP |
| 12 | g.66211214G>C | CA948696864 | IRAK3 | c.437-232G>C (n.437-232G>C) c.254-232G>C (n.254-232G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.66211214G= | CA2042909566 | IRAK3 | c.437-232G= (n.437-232G=) c.254-232G= (n.254-232G=) | |
| 12 | g.66211215A= | CA2042909567 | IRAK3 | c.437-231A= (n.437-231A=) c.254-231A= (n.254-231A=) | |
| 12 | g.66211215A>G | CA691113379 | IRAK3 | c.437-231A>G (n.437-231A>G) c.254-231A>G (n.254-231A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.66211226A= | CA2042909570 | IRAK3 | c.437-220A= (n.437-220A=) c.254-220A= (n.254-220A=) | |
| 12 | g.66211226A>T | CA13592055 | IRAK3 | c.437-220A>T (n.437-220A>T) c.254-220A>T (n.254-220A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.66211229A= | CA2042909572 | IRAK3 | c.437-217A= (n.437-217A=) c.254-217A= (n.254-217A=) | |
| 12 | g.66211229A>G | CA948696869 | IRAK3 | c.437-217A>G (n.437-217A>G) c.254-217A>G (n.254-217A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.66211230T>C | CA2042909576 | IRAK3 | c.437-216T>C (n.437-216T>C) c.254-216T>C (n.254-216T>C) | dbSNP |
| 12 | g.66211230T= | CA2042909574 | IRAK3 | c.437-216T= (n.437-216T=) c.254-216T= (n.254-216T=) | |
| 12 | g.66211231G>A | CA2042909580 | IRAK3 | c.437-215G>A (n.437-215G>A) c.254-215G>A (n.254-215G>A) | dbSNP |
| 12 | g.66211231G= | CA2042909578 | IRAK3 | c.437-215G= (n.437-215G=) c.254-215G= (n.254-215G=) | |
| 12 | g.66211239C>T | CA2532348088 | IRAK3 | c.437-207C>T (n.437-207C>T) c.254-207C>T (n.254-207C>T) | |
| 12 | g.66211240C= | CA2042909583 | IRAK3 | c.437-206C= (n.437-206C=) c.254-206C= (n.254-206C=) | |
| 12 | g.66211240C>T | CA238340486 | IRAK3 | c.437-206C>T (n.437-206C>T) c.254-206C>T (n.254-206C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.66211241G>A | CA238340488 | IRAK3 | c.437-205G>A (n.437-205G>A) c.254-205G>A (n.254-205G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.66211241G>C | CA2581094253 | IRAK3 | c.437-205G>C (n.437-205G>C) c.254-205G>C (n.254-205G>C) | |
| 12 | g.66211241G= | CA2042909586 | IRAK3 | c.437-205G= (n.437-205G=) c.254-205G= (n.254-205G=) | |
| 12 | g.66211241G>T | CA2581094252 | IRAK3 | c.437-205G>T (n.437-205G>T) c.254-205G>T (n.254-205G>T) |