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.49047979_49047980delinsAG | CA2034958132 | KMT2D | c.4221_4222delinsCT (p.Tyr1407=) c.201_202delinsCT (p.Tyr67=) c.4218_4219delinsCT (p.Tyr1406=) n.6541_6542delinsCT n.5530_5531delinsCT | |
| 12 | g.49047981_49047984del | CA2695216494 | KMT2D | c.4219_4222del (p.Tyr1407ValfsTer9) c.199_202del (p.Tyr67ValfsTer9) c.4216_4219del (p.Tyr1406ValfsTer9) n.6539_6542del n.5528_5531del | |
| 12 | g.49047980del | CA271640 | KMT2D | c.4221del (p.Cys1408ValfsTer9) c.201del (p.Cys68ValfsTer9) c.4218del (p.Cys1407ValfsTer9) n.6541del n.5530del | ClinVar dbSNP |
| 12 | g.49047980G>A | CA479514381 | KMT2D | c.4221C>T (p.Tyr1407=) c.201C>T (p.Tyr67=) c.4218C>T (p.Tyr1406=) n.6541C>T n.5530C>T | dbSNP gnomAD v4 |
| 12 | g.49047980G>C | CA384649111 | KMT2D | c.4221C>G (p.Tyr1407Ter) c.201C>G (p.Tyr67Ter) c.4218C>G (p.Tyr1406Ter) n.6541C>G n.5530C>G | dbSNP |
| 12 | g.49047980G>T | CA384649114 | KMT2D | c.4221C>A (p.Tyr1407Ter) c.201C>A (p.Tyr67Ter) c.4218C>A (p.Tyr1406Ter) n.6541C>A n.5530C>A | |
| 12 | g.49047981T>A | CA384649116 | KMT2D | c.4220A>T (p.Tyr1407Phe) c.200A>T (p.Tyr67Phe) c.4217A>T (p.Tyr1406Phe) n.6540A>T n.5529A>T | |
| 12 | g.49047981T>C | CA384649120 | KMT2D | c.4220A>G (p.Tyr1407Cys) c.200A>G (p.Tyr67Cys) c.4217A>G (p.Tyr1406Cys) n.6540A>G n.5529A>G | dbSNP gnomAD v2 |
| 12 | g.49047981T>G | CA384649118 | KMT2D | c.4220A>C (p.Tyr1407Ser) c.200A>C (p.Tyr67Ser) c.4217A>C (p.Tyr1406Ser) n.6540A>C n.5529A>C | |
| 12 | g.49047981T= | CA2034958147 | KMT2D | c.4220A= (p.Tyr1407=) c.200A= (p.Tyr67=) c.4217A= (p.Tyr1406=) n.6540A= n.5529A= | |
| 12 | g.49047982A>C | CA384649122 | KMT2D | c.4219T>G (p.Tyr1407Asp) c.199T>G (p.Tyr67Asp) c.4216T>G (p.Tyr1406Asp) n.6539T>G n.5528T>G | |
| 12 | g.49047982A>G | CA384649124 | KMT2D | c.4219T>C (p.Tyr1407His) c.199T>C (p.Tyr67His) c.4216T>C (p.Tyr1406His) n.6539T>C n.5528T>C | |
| 12 | g.49047982A>T | CA384649130 | KMT2D | c.4219T>A (p.Tyr1407Asn) c.199T>A (p.Tyr67Asn) c.4216T>A (p.Tyr1406Asn) n.6539T>A n.5528T>A | |
| 12 | g.49047983A>C | CA479514382 | KMT2D | c.4218T>G (p.Pro1406=) c.198T>G (p.Pro66=) c.4215T>G (p.Pro1405=) n.6538T>G n.5527T>G | |
| 12 | g.49047983A>G | CA479514384 | KMT2D | c.4218T>C (p.Pro1406=) c.198T>C (p.Pro66=) c.4215T>C (p.Pro1405=) n.6538T>C n.5527T>C | |
| 12 | g.49047983A>T | CA479514383 | KMT2D | c.4218T>A (p.Pro1406=) c.198T>A (p.Pro66=) c.4215T>A (p.Pro1405=) n.6538T>A n.5527T>A | |
| 12 | g.49047984G>A | CA236615314 | KMT2D | c.4217C>T (p.Pro1406Leu) c.197C>T (p.Pro66Leu) c.4214C>T (p.Pro1405Leu) n.6537C>T n.5526C>T | dbSNP |
| 12 | g.49047984G>C | CA384649138 | KMT2D | c.4217C>G (p.Pro1406Arg) c.197C>G (p.Pro66Arg) c.4214C>G (p.Pro1405Arg) n.6537C>G n.5526C>G | dbSNP |
| 12 | g.49047984G= | CA2034958152 | KMT2D | c.4217C= (p.Pro1406=) c.197C= (p.Pro66=) c.4214C= (p.Pro1405=) n.6537C= n.5526C= | |
| 12 | g.49047984G>T | CA384649142 | KMT2D | c.4217C>A (p.Pro1406His) c.197C>A (p.Pro66His) c.4214C>A (p.Pro1405His) n.6537C>A n.5526C>A | dbSNP |
| 12 | g.49047985G>A | CA384649147 | KMT2D | c.4216C>T (p.Pro1406Ser) c.196C>T (p.Pro66Ser) c.4213C>T (p.Pro1405Ser) n.6536C>T n.5525C>T | dbSNP |
| 12 | g.49047985G>C | CA384649155 | KMT2D | c.4216C>G (p.Pro1406Ala) c.196C>G (p.Pro66Ala) c.4213C>G (p.Pro1405Ala) n.6536C>G n.5525C>G | dbSNP |
| 12 | g.49047985G>T | CA384649161 | KMT2D | c.4216C>A (p.Pro1406Thr) c.196C>A (p.Pro66Thr) c.4213C>A (p.Pro1405Thr) n.6536C>A n.5525C>A | |
| 12 | g.49047986G>A | CA479514385 | KMT2D | c.4215C>T (p.His1405=) c.195C>T (p.His65=) c.4212C>T (p.His1404=) n.6535C>T n.5524C>T | dbSNP |
| 12 | g.49047986G>C | CA384649162 | KMT2D | c.4215C>G (p.His1405Gln) c.195C>G (p.His65Gln) c.4212C>G (p.His1404Gln) n.6535C>G n.5524C>G | dbSNP |
| 12 | g.49047986G>T | CA384649164 | KMT2D | c.4215C>A (p.His1405Gln) c.195C>A (p.His65Gln) c.4212C>A (p.His1404Gln) n.6535C>A n.5524C>A | |
| 12 | g.49047987T>A | CA384649181 | KMT2D | c.4214A>T (p.His1405Leu) c.194A>T (p.His65Leu) c.4211A>T (p.His1404Leu) n.6534A>T n.5523A>T | dbSNP |
| 12 | g.49047987T>C | CA384649167 | KMT2D | c.4214A>G (p.His1405Arg) c.194A>G (p.His65Arg) c.4211A>G (p.His1404Arg) n.6534A>G n.5523A>G | ClinVar dbSNP COSMIC COSMIC |
| 12 | g.49047987T>G | CA384649176 | KMT2D | c.4214A>C (p.His1405Pro) c.194A>C (p.His65Pro) c.4211A>C (p.His1404Pro) n.6534A>C n.5523A>C | dbSNP |
| 12 | g.49047987T= | CA2034958160 | KMT2D | c.4214A= (p.His1405=) c.194A= (p.His65=) c.4211A= (p.His1404=) n.6534A= n.5523A= | |
| 12 | g.49047988G>A | CA384649184 | KMT2D | c.4213C>T (p.His1405Tyr) c.193C>T (p.His65Tyr) c.4210C>T (p.His1404Tyr) n.6533C>T n.5522C>T | dbSNP COSMIC COSMIC |
| 12 | g.49047988G>C | CA384649191 | KMT2D | c.4213C>G (p.His1405Asp) c.193C>G (p.His65Asp) c.4210C>G (p.His1404Asp) n.6533C>G n.5522C>G | dbSNP |
| 12 | g.49047988G>T | CA384649197 | KMT2D | c.4213C>A (p.His1405Asn) c.193C>A (p.His65Asn) c.4210C>A (p.His1404Asn) n.6533C>A n.5522C>A | dbSNP |
| 12 | g.49047989A>C | CA384649203 | KMT2D | c.4212T>G (p.Tyr1404Ter) c.192T>G (p.Tyr64Ter) c.4209T>G (p.Tyr1403Ter) n.6532T>G n.5521T>G | dbSNP |
| 12 | g.49047989A>G | CA479514386 | KMT2D | c.4212T>C (p.Tyr1404=) c.192T>C (p.Tyr64=) c.4209T>C (p.Tyr1403=) n.6532T>C n.5521T>C | |
| 12 | g.49047989A>T | CA384649210 | KMT2D | c.4212T>A (p.Tyr1404Ter) c.192T>A (p.Tyr64Ter) c.4209T>A (p.Tyr1403Ter) n.6532T>A n.5521T>A | COSMIC |
| 12 | g.49047990T>A | CA384649216 | KMT2D | c.4211A>T (p.Tyr1404Phe) c.191A>T (p.Tyr64Phe) c.4208A>T (p.Tyr1403Phe) n.6531A>T n.5520A>T | |
| 12 | g.49047990T>C | CA384649217 | KMT2D | c.4211A>G (p.Tyr1404Cys) c.191A>G (p.Tyr64Cys) c.4208A>G (p.Tyr1403Cys) n.6531A>G n.5520A>G | ClinVar gnomAD v4 |
| 12 | g.49047990T>G | CA384649218 | KMT2D | c.4211A>C (p.Tyr1404Ser) c.191A>C (p.Tyr64Ser) c.4208A>C (p.Tyr1403Ser) n.6531A>C n.5520A>C | |
| 12 | g.49047991A>C | CA384649220 | KMT2D | c.4210T>G (p.Tyr1404Asp) c.190T>G (p.Tyr64Asp) c.4207T>G (p.Tyr1403Asp) n.6530T>G n.5519T>G | |
| 12 | g.49047991A>G | CA384649222 | KMT2D | c.4210T>C (p.Tyr1404His) c.190T>C (p.Tyr64His) c.4207T>C (p.Tyr1403His) n.6530T>C n.5519T>C | dbSNP |
| 12 | g.49047991A>T | CA384649225 | KMT2D | c.4210T>A (p.Tyr1404Asn) c.190T>A (p.Tyr64Asn) c.4207T>A (p.Tyr1403Asn) n.6530T>A n.5519T>A | dbSNP |
| 12 | g.49047998_49048006del | CA2695216495 | KMT2D | c.4202_4210del (p.Ser1401_Cys1403del) c.182_190del (p.Ser61_Cys63del) c.4199_4207del (p.Ser1400_Cys1402del) n.6522_6530del n.5511_5519del | |
| 12 | g.49047992G>A | CA479514387 | KMT2D | c.4209C>T (p.Cys1403=) c.189C>T (p.Cys63=) c.4206C>T (p.Cys1402=) n.6529C>T n.5518C>T | dbSNP |
| 12 | g.49047992G>C | CA384649241 | KMT2D | c.4209C>G (p.Cys1403Trp) c.189C>G (p.Cys63Trp) c.4206C>G (p.Cys1402Trp) n.6529C>G n.5518C>G | dbSNP |
| 12 | g.49047992G= | CA2034958170 | KMT2D | c.4209C= (p.Cys1403=) c.189C= (p.Cys63=) c.4206C= (p.Cys1402=) n.6529C= n.5518C= | |
| 12 | g.49047992G>T | CA384649236 | KMT2D | c.4209C>A (p.Cys1403Ter) c.189C>A (p.Cys63Ter) c.4206C>A (p.Cys1402Ter) n.6529C>A n.5518C>A | ClinVar dbSNP |
| 12 | g.49047993C>A | CA384649245 | KMT2D | c.4208G>T (p.Cys1403Phe) c.188G>T (p.Cys63Phe) c.4205G>T (p.Cys1402Phe) n.6528G>T n.5517G>T | |
| 12 | g.49047993C>G | CA384649257 | KMT2D | c.4208G>C (p.Cys1403Ser) c.188G>C (p.Cys63Ser) c.4205G>C (p.Cys1402Ser) n.6528G>C n.5517G>C | |
| 12 | g.49047993C>T | CA384649263 | KMT2D | c.4208G>A (p.Cys1403Tyr) c.188G>A (p.Cys63Tyr) c.4205G>A (p.Cys1402Tyr) n.6528G>A n.5517G>A |