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 |
|---|---|---|---|---|---|
| 3 | g.38560346_38560358delinsA | CA2739278200 | SCN5A | c.4031_4043delinsT (p.Trp1344_Ser1348delinsPhe) c.4034_4046delinsT (p.Trp1345_Ser1349delinsPhe) c.3872_3884delinsT (p.Trp1291_Ser1295delinsPhe) c.3905_3917delinsT (p.Trp1302_Ser1306delinsPhe) | ClinVar |
| 3 | g.38560347_38560358del | CA2573136263 | SCN5A | c.4032_4043del (p.Trp1344_Ser1348delinsCys) c.4035_4046del (p.Trp1345_Ser1349delinsCys) c.3873_3884del (p.Trp1291_Ser1295delinsCys) c.3906_3917del (p.Trp1302_Ser1306delinsCys) | dbSNP |
| 3 | g.38560357_38560368del | CA2755901968 | SCN5A | c.4030_4041del (p.Trp1344_Phe1347del) c.4033_4044del (p.Trp1345_Phe1348del) c.3871_3882del (p.Trp1291_Phe1294del) c.3904_3915del (p.Trp1302_Phe1305del) | |
| 3 | g.38560349A>C | CA352147335 | SCN5A | c.4040T>G (p.Phe1347Cys) c.4043T>G (p.Phe1348Cys) c.3881T>G (p.Phe1294Cys) c.3914T>G (p.Phe1305Cys) | |
| 3 | g.38560349A>G | CA352147337 | SCN5A | c.4040T>C (p.Phe1347Ser) c.4043T>C (p.Phe1348Ser) c.3881T>C (p.Phe1294Ser) c.3914T>C (p.Phe1305Ser) | |
| 3 | g.38560349A>T | CA352147340 | SCN5A | c.4040T>A (p.Phe1347Tyr) c.4043T>A (p.Phe1348Tyr) c.3881T>A (p.Phe1294Tyr) c.3914T>A (p.Phe1305Tyr) | |
| 3 | g.38560350A>C | CA352147343 | SCN5A | c.4039T>G (p.Phe1347Val) c.4042T>G (p.Phe1348Val) c.3880T>G (p.Phe1294Val) c.3913T>G (p.Phe1305Val) | |
| 3 | g.38560350A>G | CA352147345 | SCN5A | c.4039T>C (p.Phe1347Leu) c.4042T>C (p.Phe1348Leu) c.3880T>C (p.Phe1294Leu) c.3913T>C (p.Phe1305Leu) | |
| 3 | g.38560350A>T | CA352147353 | SCN5A | c.4039T>A (p.Phe1347Ile) c.4042T>A (p.Phe1348Ile) c.3880T>A (p.Phe1294Ile) c.3913T>A (p.Phe1305Ile) | |
| 3 | g.38560351G>A | CA433332468 | SCN5A | c.4038C>T (p.Ile1346=) c.4041C>T (p.Ile1347=) c.3879C>T (p.Ile1293=) c.3912C>T (p.Ile1304=) | |
| 3 | g.38560351G>C | CA352147356 | SCN5A | c.4038C>G (p.Ile1346Met) c.4041C>G (p.Ile1347Met) c.3879C>G (p.Ile1293Met) c.3912C>G (p.Ile1304Met) | |
| 3 | g.38560351G>T | CA433332467 | SCN5A | c.4038C>A (p.Ile1346=) c.4041C>A (p.Ile1347=) c.3879C>A (p.Ile1293=) c.3912C>A (p.Ile1304=) | |
| 3 | g.38560352A>C | CA352147357 | SCN5A | c.4037T>G (p.Ile1346Ser) c.4040T>G (p.Ile1347Ser) c.3878T>G (p.Ile1293Ser) c.3911T>G (p.Ile1304Ser) | |
| 3 | g.38560352A>G | CA352147360 | SCN5A | c.4037T>C (p.Ile1346Thr) c.4040T>C (p.Ile1347Thr) c.3878T>C (p.Ile1293Thr) c.3911T>C (p.Ile1304Thr) | ClinVar |
| 3 | g.38560352A>T | CA352147362 | SCN5A | c.4037T>A (p.Ile1346Asn) c.4040T>A (p.Ile1347Asn) c.3878T>A (p.Ile1293Asn) c.3911T>A (p.Ile1304Asn) | |
| 3 | g.38560353T>A | CA352147366 | SCN5A | c.4036A>T (p.Ile1346Phe) c.4039A>T (p.Ile1347Phe) c.3877A>T (p.Ile1293Phe) c.3910A>T (p.Ile1304Phe) | |
| 3 | g.38560353T>C | CA352147369 | SCN5A | c.4036A>G (p.Ile1346Val) c.4039A>G (p.Ile1347Val) c.3877A>G (p.Ile1293Val) c.3910A>G (p.Ile1304Val) | |
| 3 | g.38560353T>G | CA352147364 | SCN5A | c.4036A>C (p.Ile1346Leu) c.4039A>C (p.Ile1347Leu) c.3877A>C (p.Ile1293Leu) c.3910A>C (p.Ile1304Leu) | |
| 3 | g.38560354G>A | CA433332471 | SCN5A | c.4035C>T (p.Leu1345=) c.4038C>T (p.Leu1346=) c.3876C>T (p.Leu1292=) c.3909C>T (p.Leu1303=) | |
| 3 | g.38560354G>C | CA433332470 | SCN5A | c.4035C>G (p.Leu1345=) c.4038C>G (p.Leu1346=) c.3876C>G (p.Leu1292=) c.3909C>G (p.Leu1303=) | |
| 3 | g.38560354G>T | CA433332469 | SCN5A | c.4035C>A (p.Leu1345=) c.4038C>A (p.Leu1346=) c.3876C>A (p.Leu1292=) c.3909C>A (p.Leu1303=) | |
| 3 | g.38560355_38560356del | CA2586965782 | SCN5A | c.4034_4035del (p.Leu1345HisfsTer?) c.4037_4038del (p.Leu1346HisfsTer?) c.3875_3876del (p.Leu1292HisfsTer?) c.3908_3909del (p.Leu1303HisfsTer?) | |
| 3 | g.38560355A= | CA1358565742 | SCN5A | c.4034T= (p.Leu1345=) c.4037T= (p.Leu1346=) c.3875T= (p.Leu1292=) c.3908T= (p.Leu1303=) | |
| 3 | g.38560355A>C | CA352147370 | SCN5A | c.4034T>G (p.Leu1345Arg) c.4037T>G (p.Leu1346Arg) c.3875T>G (p.Leu1292Arg) c.3908T>G (p.Leu1303Arg) | |
| 3 | g.38560355A>G | CA017808 | SCN5A | c.4034T>C (p.Leu1345Pro) c.4037T>C (p.Leu1346Pro) c.3875T>C (p.Leu1292Pro) c.3908T>C (p.Leu1303Pro) | ClinVar dbSNP |
| 3 | g.38560355A>T | CA352147373 | SCN5A | c.4034T>A (p.Leu1345His) c.4037T>A (p.Leu1346His) c.3875T>A (p.Leu1292His) c.3908T>A (p.Leu1303His) | |
| 3 | g.38560356G>A | CA352147374 | SCN5A | c.4033C>T (p.Leu1345Phe) c.4036C>T (p.Leu1346Phe) c.3874C>T (p.Leu1292Phe) c.3907C>T (p.Leu1303Phe) | |
| 3 | g.38560356G>C | CA352147375 | SCN5A | c.4033C>G (p.Leu1345Val) c.4036C>G (p.Leu1346Val) c.3874C>G (p.Leu1292Val) c.3907C>G (p.Leu1303Val) | |
| 3 | g.38560356G= | CA1358565743 | SCN5A | c.4033C= (p.Leu1345=) c.4036C= (p.Leu1346=) c.3874C= (p.Leu1292=) c.3907C= (p.Leu1303=) | |
| 3 | g.38560356G>T | CA017802 | SCN5A | c.4033C>A (p.Leu1345Ile) c.4036C>A (p.Leu1346Ile) c.3874C>A (p.Leu1292Ile) c.3907C>A (p.Leu1303Ile) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38560356_38560357delinsGC | CA1358565744 | SCN5A | c.4032_4033delinsGC (p.Trp1344=) c.4035_4036delinsGC (p.Trp1345=) c.3873_3874delinsGC (p.Trp1291=) c.3906_3907delinsGC (p.Trp1302=) | |
| 3 | g.38560357C>A | CA017796 | SCN5A | c.4032G>T (p.Trp1344Cys) c.4035G>T (p.Trp1345Cys) c.3873G>T (p.Trp1291Cys) c.3906G>T (p.Trp1302Cys) | ClinVar dbSNP COSMIC COSMIC COSMIC |
| 3 | g.38560357C= | CA1358565745 | SCN5A | c.4032G= (p.Trp1344=) c.4035G= (p.Trp1345=) c.3873G= (p.Trp1291=) c.3906G= (p.Trp1302=) | |
| 3 | g.38560357C>G | CA352147380 | SCN5A | c.4032G>C (p.Trp1344Cys) c.4035G>C (p.Trp1345Cys) c.3873G>C (p.Trp1291Cys) c.3906G>C (p.Trp1302Cys) | |
| 3 | g.38560357C>T | CA017787 | SCN5A | c.4032G>A (p.Trp1344Ter) c.4035G>A (p.Trp1345Ter) c.3873G>A (p.Trp1291Ter) c.3906G>A (p.Trp1302Ter) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38560358del | CA906900360 | SCN5A | c.4032del (p.Trp1344CysfsTer9) c.4035del (p.Trp1345CysfsTer9) c.3873del (p.Trp1291CysfsTer9) c.3906del (p.Trp1302CysfsTer9) | dbSNP |
| 3 | g.38560358C>A | CA352147387 | SCN5A | c.4031G>T (p.Trp1344Leu) c.4034G>T (p.Trp1345Leu) c.3872G>T (p.Trp1291Leu) c.3905G>T (p.Trp1302Leu) | |
| 3 | g.38560358C>G | CA352147389 | SCN5A | c.4031G>C (p.Trp1344Ser) c.4034G>C (p.Trp1345Ser) c.3872G>C (p.Trp1291Ser) c.3905G>C (p.Trp1302Ser) | |
| 3 | g.38560358C>T | CA352147392 | SCN5A | c.4031G>A (p.Trp1344Ter) c.4034G>A (p.Trp1345Ter) c.3872G>A (p.Trp1291Ter) c.3905G>A (p.Trp1302Ter) | |
| 3 | g.38560359A>C | CA352147394 | SCN5A | c.4030T>G (p.Trp1344Gly) c.4033T>G (p.Trp1345Gly) c.3871T>G (p.Trp1291Gly) c.3904T>G (p.Trp1302Gly) | |
| 3 | g.38560359A>G | CA352147396 | SCN5A | c.4030T>C (p.Trp1344Arg) c.4033T>C (p.Trp1345Arg) c.3871T>C (p.Trp1291Arg) c.3904T>C (p.Trp1302Arg) | |
| 3 | g.38560359A>T | CA352147401 | SCN5A | c.4030T>A (p.Trp1344Arg) c.4033T>A (p.Trp1345Arg) c.3871T>A (p.Trp1291Arg) c.3904T>A (p.Trp1302Arg) | |
| 3 | g.38560360G>A | CA433332472 | SCN5A | c.4029C>T (p.Phe1343=) c.4032C>T (p.Phe1344=) c.3870C>T (p.Phe1290=) c.3903C>T (p.Phe1301=) | |
| 3 | g.38560360G>C | CA352147403 | SCN5A | c.4029C>G (p.Phe1343Leu) c.4032C>G (p.Phe1344Leu) c.3870C>G (p.Phe1290Leu) c.3903C>G (p.Phe1301Leu) | gnomAD v4 |
| 3 | g.38560360G>T | CA352147404 | SCN5A | c.4029C>A (p.Phe1343Leu) c.4032C>A (p.Phe1344Leu) c.3870C>A (p.Phe1290Leu) c.3903C>A (p.Phe1301Leu) | |
| 3 | g.38560361A= | CA1358565746 | SCN5A | c.4028T= (p.Phe1343=) c.4031T= (p.Phe1344=) c.3869T= (p.Phe1290=) c.3902T= (p.Phe1301=) | |
| 3 | g.38560361A>C | CA352147407 | SCN5A | c.4028T>G (p.Phe1343Cys) c.4031T>G (p.Phe1344Cys) c.3869T>G (p.Phe1290Cys) c.3902T>G (p.Phe1301Cys) | |
| 3 | g.38560361A>G | CA017779 | SCN5A | c.4028T>C (p.Phe1343Ser) c.4031T>C (p.Phe1344Ser) c.3869T>C (p.Phe1290Ser) c.3902T>C (p.Phe1301Ser) | ClinVar dbSNP |
| 3 | g.38560361A>T | CA352147410 | SCN5A | c.4028T>A (p.Phe1343Tyr) c.4031T>A (p.Phe1344Tyr) c.3869T>A (p.Phe1290Tyr) c.3902T>A (p.Phe1301Tyr) | |
| 3 | g.38560362A= | CA1358565747 | SCN5A | c.4027T= (p.Phe1343=) c.4030T= (p.Phe1344=) c.3868T= (p.Phe1290=) c.3901T= (p.Phe1301=) |