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 |
|---|---|---|---|---|---|
| 5 | g.149980833_149980837del | CA2695198774 | SLC26A2 | c.1240_1244del (p.Ala414ProfsTer10) c.372+2482_372+2486del (n.372+2482_372+2486del) | ClinVar |
| 5 | g.149980833G>A | CA361707448 | SLC26A2 | c.1240G>A (p.Ala414Thr) c.372+2482G>A (n.372+2482G>A) | |
| 5 | g.149980833G>C | CA361707447 | SLC26A2 | c.1240G>C (p.Ala414Pro) c.372+2482G>C (n.372+2482G>C) | |
| 5 | g.149980833G= | CA1590738541 | SLC26A2 | c.1240G= (p.Ala414=) c.372+2482G= (n.372+2482G=) | |
| 5 | g.149980833G>T | CA361707446 | SLC26A2 | c.1240G>T (p.Ala414Ser) c.372+2482G>T (n.372+2482G>T) | dbSNP |
| 5 | g.149980833_149980837delinsGCAAA | CA1590738540 | SLC26A2 | c.1240_1244delinsGCAAA (p.Ala414=) c.372+2482_372+2486delinsGCAAA (n.372+2482_372+2486delinsGCAAA) | |
| 5 | g.149980834C>A | CA361707449 | SLC26A2 | c.1241C>A (p.Ala414Glu) c.372+2483C>A (n.372+2483C>A) | |
| 5 | g.149980834C>G | CA361707450 | SLC26A2 | c.1241C>G (p.Ala414Gly) c.372+2483C>G (n.372+2483C>G) | |
| 5 | g.149980834C>T | CA361707451 | SLC26A2 | c.1241C>T (p.Ala414Val) c.372+2483C>T (n.372+2483C>T) | ClinVar dbSNP |
| 5 | g.149980835_149980838del | CA263250 | SLC26A2 | c.1242_1245del (p.Asn415ArgfsTer?) c.372+2484_372+2487del (n.372+2484_372+2487del) | ClinVar dbSNP |
| 5 | g.149980835A>C | CA447402514 | SLC26A2 | c.1242A>C (p.Ala414=) c.372+2484A>C (n.372+2484A>C) | |
| 5 | g.149980835A>G | CA447402516 | SLC26A2 | c.1242A>G (p.Ala414=) c.372+2484A>G (n.372+2484A>G) | |
| 5 | g.149980835A>T | CA447402517 | SLC26A2 | c.1242A>T (p.Ala414=) c.372+2484A>T (n.372+2484A>T) | |
| 5 | g.149980836A>C | CA361707452 | SLC26A2 | c.1243A>C (p.Asn415His) c.372+2485A>C (n.372+2485A>C) | |
| 5 | g.149980836A>G | CA361707453 | SLC26A2 | c.1243A>G (p.Asn415Asp) c.372+2485A>G (n.372+2485A>G) | |
| 5 | g.149980836A>T | CA361707454 | SLC26A2 | c.1243A>T (p.Asn415Tyr) c.372+2485A>T (n.372+2485A>T) | |
| 5 | g.149980837A>C | CA361707455 | SLC26A2 | c.1244A>C (p.Asn415Thr) c.372+2486A>C (n.372+2486A>C) | |
| 5 | g.149980837A>G | CA361707456 | SLC26A2 | c.1244A>G (p.Asn415Ser) c.372+2486A>G (n.372+2486A>G) | |
| 5 | g.149980837A>T | CA361707457 | SLC26A2 | c.1244A>T (p.Asn415Ile) c.372+2486A>T (n.372+2486A>T) | |
| 5 | g.149980838C>A | CA361707458 | SLC26A2 | c.1245C>A (p.Asn415Lys) c.372+2487C>A (n.372+2487C>A) | gnomAD v4 |
| 5 | g.149980838C>G | CA361707459 | SLC26A2 | c.1245C>G (p.Asn415Lys) c.372+2487C>G (n.372+2487C>G) | |
| 5 | g.149980838C>T | CA447402521 | SLC26A2 | c.1245C>T (p.Asn415=) c.372+2487C>T (n.372+2487C>T) | ClinVar dbSNP |
| 5 | g.149980839C>A | CA361707461 | SLC26A2 | c.1246C>A (p.Gln416Lys) c.372+2488C>A (n.372+2488C>A) | |
| 5 | g.149980839C>G | CA361707462 | SLC26A2 | c.1246C>G (p.Gln416Glu) c.372+2488C>G (n.372+2488C>G) | |
| 5 | g.149980839C>T | CA361707460 | SLC26A2 | c.1246C>T (p.Gln416Ter) c.372+2488C>T (n.372+2488C>T) | ClinVar dbSNP gnomAD v4 |
| 5 | g.149980840A= | CA1590738542 | SLC26A2 | c.1247A= (p.Gln416=) c.372+2489A= (n.372+2489A=) | |
| 5 | g.149980840A>C | CA361707463 | SLC26A2 | c.1247A>C (p.Gln416Pro) c.372+2489A>C (n.372+2489A>C) | dbSNP |
| 5 | g.149980840A>G | CA361707464 | SLC26A2 | c.1247A>G (p.Gln416Arg) c.372+2489A>G (n.372+2489A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149980840A>T | CA361707465 | SLC26A2 | c.1247A>T (p.Gln416Leu) c.372+2489A>T (n.372+2489A>T) | |
| 5 | g.149980841G>A | CA447402522 | SLC26A2 | c.1248G>A (p.Gln416=) c.372+2490G>A (n.372+2490G>A) | |
| 5 | g.149980841G>C | CA361707466 | SLC26A2 | c.1248G>C (p.Gln416His) c.372+2490G>C (n.372+2490G>C) | |
| 5 | g.149980841G>T | CA361707467 | SLC26A2 | c.1248G>T (p.Gln416His) c.372+2490G>T (n.372+2490G>T) | |
| 5 | g.149980842G>A | CA361707470 | SLC26A2 | c.1249G>A (p.Glu417Lys) c.372+2491G>A (n.372+2491G>A) | |
| 5 | g.149980842G>C | CA361707468 | SLC26A2 | c.1249G>C (p.Glu417Gln) c.372+2491G>C (n.372+2491G>C) | |
| 5 | g.149980842G>T | CA361707469 | SLC26A2 | c.1249G>T (p.Glu417Ter) c.372+2491G>T (n.372+2491G>T) | |
| 5 | g.149980843A>C | CA361707471 | SLC26A2 | c.1250A>C (p.Glu417Ala) c.372+2492A>C (n.372+2492A>C) | |
| 5 | g.149980843A>G | CA361707472 | SLC26A2 | c.1250A>G (p.Glu417Gly) c.372+2492A>G (n.372+2492A>G) | |
| 5 | g.149980843A>T | CA361707473 | SLC26A2 | c.1250A>T (p.Glu417Val) c.372+2492A>T (n.372+2492A>T) | |
| 5 | g.149980845del | CA2768879503 | SLC26A2 | c.1252del (p.Met418CysfsTer?) c.372+2494del (n.372+2494del) | |
| 5 | g.149980844A>C | CA361707474 | SLC26A2 | c.1251A>C (p.Glu417Asp) c.372+2493A>C (n.372+2493A>C) | |
| 5 | g.149980844A>G | CA447402524 | SLC26A2 | c.1251A>G (p.Glu417=) c.372+2493A>G (n.372+2493A>G) | |
| 5 | g.149980844A>T | CA361707475 | SLC26A2 | c.1251A>T (p.Glu417Asp) c.372+2493A>T (n.372+2493A>T) | |
| 5 | g.149980845A= | CA1590738543 | SLC26A2 | c.1252A= (p.Met418=) c.372+2494A= (n.372+2494A=) | |
| 5 | g.149980845A>C | CA361707477 | SLC26A2 | c.1252A>C (p.Met418Leu) c.372+2494A>C (n.372+2494A>C) | |
| 5 | g.149980845A>G | CA3505410 | SLC26A2 | c.1252A>G (p.Met418Val) c.372+2494A>G (n.372+2494A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149980845A>T | CA361707476 | SLC26A2 | c.1252A>T (p.Met418Leu) c.372+2494A>T (n.372+2494A>T) | |
| 5 | g.149980846T>A | CA361707478 | SLC26A2 | c.1253T>A (p.Met418Lys) c.372+2495T>A (n.372+2495T>A) | |
| 5 | g.149980846T>C | CA361707480 | SLC26A2 | c.1253T>C (p.Met418Thr) c.372+2495T>C (n.372+2495T>C) | |
| 5 | g.149980846T>G | CA361707479 | SLC26A2 | c.1253T>G (p.Met418Arg) c.372+2495T>G (n.372+2495T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149980846T= | CA1590738544 | SLC26A2 | c.1253T= (p.Met418=) c.372+2495T= (n.372+2495T=) |