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 |
|---|---|---|---|---|---|
| 2 | g.219425705A>C | CA350698553 | DES | n.805A>C n.719A>C c.1331A>C (p.Lys444Thr) n.186A>C c.1328A>C (p.Lys443Thr) c.899A>C (p.Lys300Thr) c.1262A>C (p.Lys421Thr) c.1310A>C (p.Lys437Thr) c.1061A>C (p.Lys354Thr) | COSMIC |
| 2 | g.219425705A>G | CA350698556 | DES | n.805A>G n.719A>G c.1331A>G (p.Lys444Arg) n.186A>G c.1328A>G (p.Lys443Arg) c.899A>G (p.Lys300Arg) c.1262A>G (p.Lys421Arg) c.1310A>G (p.Lys437Arg) c.1061A>G (p.Lys354Arg) | |
| 2 | g.219425705A>T | CA350698559 | DES | n.805A>T n.719A>T c.1331A>T (p.Lys444Met) n.186A>T c.1328A>T (p.Lys443Met) c.899A>T (p.Lys300Met) c.1262A>T (p.Lys421Met) c.1310A>T (p.Lys437Met) c.1061A>T (p.Lys354Met) | |
| 2 | g.219425705_219425709delinsAGACG | CA1329213118 | DES | n.805_809delinsAGACG n.719_723delinsAGACG c.1331_1335delinsAGACG (p.Lys444=) n.186_190delinsAGACG c.1328_1332delinsAGACG (p.Lys443=) c.899_903delinsAGACG (p.Lys300=) c.1262_1266delinsAGACG (p.Lys421=) c.1310_1314delinsAGACG (p.Lys437=) c.1061_1065delinsAGACG (p.Lys354=) | |
| 2 | g.219425706G>A | CA431285585 | DES | n.806G>A n.720G>A c.1332G>A (p.Lys444=) n.187G>A c.1329G>A (p.Lys443=) c.900G>A (p.Lys300=) c.1263G>A (p.Lys421=) c.1311G>A (p.Lys437=) c.1062G>A (p.Lys354=) | gnomAD v4 |
| 2 | g.219425706G>C | CA350698562 | DES | n.806G>C n.720G>C c.1332G>C (p.Lys444Asn) n.187G>C c.1329G>C (p.Lys443Asn) c.900G>C (p.Lys300Asn) c.1263G>C (p.Lys421Asn) c.1311G>C (p.Lys437Asn) c.1062G>C (p.Lys354Asn) | |
| 2 | g.219425706G>T | CA350698565 | DES | n.806G>T n.720G>T c.1332G>T (p.Lys444Asn) n.187G>T c.1329G>T (p.Lys443Asn) c.900G>T (p.Lys300Asn) c.1263G>T (p.Lys421Asn) c.1311G>T (p.Lys437Asn) c.1062G>T (p.Lys354Asn) | |
| 2 | g.219425707_219425710del | CA645369282 | DES | n.807_810del n.721_724del c.1333_1336del (p.Thr445Ter) n.188_191del c.1330_1333del (p.Thr444Ter) c.901_904del (p.Thr301Ter) c.1264_1267del (p.Thr422Ter) c.1312_1315del (p.Thr438Ter) c.1063_1066del (p.Thr355Ter) | ClinVar dbSNP |
| 2 | g.219425707A= | CA1329213119 | DES | n.807A= n.721A= c.1333A= (p.Thr445=) n.188A= c.1330A= (p.Thr444=) c.901A= (p.Thr301=) c.1264A= (p.Thr422=) c.1312A= (p.Thr438=) c.1063A= (p.Thr355=) | |
| 2 | g.219425707A>C | CA350698567 | DES | n.807A>C n.721A>C c.1333A>C (p.Thr445Pro) n.188A>C c.1330A>C (p.Thr444Pro) c.901A>C (p.Thr301Pro) c.1264A>C (p.Thr422Pro) c.1312A>C (p.Thr438Pro) c.1063A>C (p.Thr355Pro) | |
| 2 | g.219425707A>G | CA284676 | DES | n.807A>G n.721A>G c.1333A>G (p.Thr445Ala) n.188A>G c.1330A>G (p.Thr444Ala) c.901A>G (p.Thr301Ala) c.1264A>G (p.Thr422Ala) c.1312A>G (p.Thr438Ala) c.1063A>G (p.Thr355Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.219425707A>T | CA350698569 | DES | n.807A>T n.721A>T c.1333A>T (p.Thr445Ser) n.188A>T c.1330A>T (p.Thr444Ser) c.901A>T (p.Thr301Ser) c.1264A>T (p.Thr422Ser) c.1312A>T (p.Thr438Ser) c.1063A>T (p.Thr355Ser) | |
| 2 | g.219425708C>A | CA350698576 | DES | n.808C>A n.722C>A c.1334C>A (p.Thr445Lys) n.189C>A c.1331C>A (p.Thr444Lys) c.902C>A (p.Thr301Lys) c.1265C>A (p.Thr422Lys) c.1313C>A (p.Thr438Lys) c.1064C>A (p.Thr355Lys) | gnomAD v4 |
| 2 | g.219425708C= | CA1329213120 | DES | n.808C= n.722C= c.1334C= (p.Thr445=) n.189C= c.1331C= (p.Thr444=) c.902C= (p.Thr301=) c.1265C= (p.Thr422=) c.1313C= (p.Thr438=) c.1064C= (p.Thr355=) | |
| 2 | g.219425708C>G | CA350698578 | DES | n.808C>G n.722C>G c.1334C>G (p.Thr445Arg) n.189C>G c.1331C>G (p.Thr444Arg) c.902C>G (p.Thr301Arg) c.1265C>G (p.Thr422Arg) c.1313C>G (p.Thr438Arg) c.1064C>G (p.Thr355Arg) | |
| 2 | g.219425708C>T | CA2125303 | DES | n.808C>T n.722C>T c.1334C>T (p.Thr445Met) n.189C>T c.1331C>T (p.Thr444Met) c.902C>T (p.Thr301Met) c.1265C>T (p.Thr422Met) c.1313C>T (p.Thr438Met) c.1064C>T (p.Thr355Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.219425709G>A | CA2125304 | DES | n.809G>A n.723G>A c.1335G>A (p.Thr445=) n.190G>A c.1332G>A (p.Thr444=) c.903G>A (p.Thr301=) c.1266G>A (p.Thr422=) c.1314G>A (p.Thr438=) c.1065G>A (p.Thr355=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.219425709G>C | CA431285586 | DES | n.809G>C n.723G>C c.1335G>C (p.Thr445=) n.190G>C c.1332G>C (p.Thr444=) c.903G>C (p.Thr301=) c.1266G>C (p.Thr422=) c.1314G>C (p.Thr438=) c.1065G>C (p.Thr355=) | |
| 2 | g.219425709G= | CA1329213121 | DES | n.809G= n.723G= c.1335G= (p.Thr445=) n.190G= c.1332G= (p.Thr444=) c.903G= (p.Thr301=) c.1266G= (p.Thr422=) c.1314G= (p.Thr438=) c.1065G= (p.Thr355=) | |
| 2 | g.219425709G>T | CA431285587 | DES | n.809G>T n.723G>T c.1335G>T (p.Thr445=) n.190G>T c.1332G>T (p.Thr444=) c.903G>T (p.Thr301=) c.1266G>T (p.Thr422=) c.1314G>T (p.Thr438=) c.1065G>T (p.Thr355=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.219425710G>A | CA350698588 | DES | n.810G>A n.724G>A c.1336G>A (p.Val446Met) n.191G>A c.1333G>A (p.Val445Met) c.904G>A (p.Val302Met) c.1267G>A (p.Val423Met) c.1315G>A (p.Val439Met) c.1066G>A (p.Val356Met) | |
| 2 | g.219425710G>C | CA350698590 | DES | n.810G>C n.724G>C c.1336G>C (p.Val446Leu) n.191G>C c.1333G>C (p.Val445Leu) c.904G>C (p.Val302Leu) c.1267G>C (p.Val423Leu) c.1315G>C (p.Val439Leu) c.1066G>C (p.Val356Leu) | |
| 2 | g.219425710G>T | CA350698595 | DES | n.810G>T n.724G>T c.1336G>T (p.Val446Leu) n.191G>T c.1333G>T (p.Val445Leu) c.904G>T (p.Val302Leu) c.1267G>T (p.Val423Leu) c.1315G>T (p.Val439Leu) c.1066G>T (p.Val356Leu) | gnomAD v4 |
| 2 | g.219425711T>A | CA350698598 | DES | n.811T>A n.725T>A c.1337T>A (p.Val446Glu) n.192T>A c.1334T>A (p.Val445Glu) c.905T>A (p.Val302Glu) c.1268T>A (p.Val423Glu) c.1316T>A (p.Val439Glu) c.1067T>A (p.Val356Glu) | gnomAD v4 |
| 2 | g.219425711T>C | CA350698603 | DES | n.811T>C n.725T>C c.1337T>C (p.Val446Ala) n.192T>C c.1334T>C (p.Val445Ala) c.905T>C (p.Val302Ala) c.1268T>C (p.Val423Ala) c.1316T>C (p.Val439Ala) c.1067T>C (p.Val356Ala) | |
| 2 | g.219425711T>G | CA350698606 | DES | n.811T>G n.725T>G c.1337T>G (p.Val446Gly) n.192T>G c.1334T>G (p.Val445Gly) c.905T>G (p.Val302Gly) c.1268T>G (p.Val423Gly) c.1316T>G (p.Val439Gly) c.1067T>G (p.Val356Gly) | |
| 2 | g.219425712G>A | CA431285588 | DES | n.812G>A n.726G>A c.1338G>A (p.Val446=) n.193G>A c.1335G>A (p.Val445=) c.906G>A (p.Val302=) c.1269G>A (p.Val423=) c.1317G>A (p.Val439=) c.1068G>A (p.Val356=) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.219425712G>C | CA431285589 | DES | n.812G>C n.726G>C c.1338G>C (p.Val446=) n.193G>C c.1335G>C (p.Val445=) c.906G>C (p.Val302=) c.1269G>C (p.Val423=) c.1317G>C (p.Val439=) c.1068G>C (p.Val356=) | |
| 2 | g.219425712G= | CA1329213122 | DES | n.812G= n.726G= c.1338G= (p.Val446=) n.193G= c.1335G= (p.Val445=) c.906G= (p.Val302=) c.1269G= (p.Val423=) c.1317G= (p.Val439=) c.1068G= (p.Val356=) | |
| 2 | g.219425712G>T | CA431285590 | DES | n.812G>T n.726G>T c.1338G>T (p.Val446=) n.193G>T c.1335G>T (p.Val445=) c.906G>T (p.Val302=) c.1269G>T (p.Val423=) c.1317G>T (p.Val439=) c.1068G>T (p.Val356=) | gnomAD v4 |
| 2 | g.219425713A>C | CA350698617 | DES | n.813A>C n.727A>C c.1339A>C (p.Met447Leu) n.194A>C c.1336A>C (p.Met446Leu) c.907A>C (p.Met303Leu) c.1270A>C (p.Met424Leu) c.1318A>C (p.Met440Leu) c.1069A>C (p.Met357Leu) | |
| 2 | g.219425713A>G | CA350698614 | DES | n.813A>G n.727A>G c.1339A>G (p.Met447Val) n.194A>G c.1336A>G (p.Met446Val) c.907A>G (p.Met303Val) c.1270A>G (p.Met424Val) c.1318A>G (p.Met440Val) c.1069A>G (p.Met357Val) | gnomAD v4 |
| 2 | g.219425713A>T | CA350698611 | DES | n.813A>T n.727A>T c.1339A>T (p.Met447Leu) n.194A>T c.1336A>T (p.Met446Leu) c.907A>T (p.Met303Leu) c.1270A>T (p.Met424Leu) c.1318A>T (p.Met440Leu) c.1069A>T (p.Met357Leu) | gnomAD v4 |
| 2 | g.219425714del | CA2663252167 | DES | n.814del n.728del c.1340del (p.Met447ArgfsTer?) n.195del c.1337del (p.Met446ArgfsTer?) c.908del (p.Met303ArgfsTer?) c.1271del (p.Met424ArgfsTer?) c.1319del (p.Met440ArgfsTer?) c.1070del (p.Met357ArgfsTer?) | gnomAD v4 |
| 2 | g.219425714T>A | CA350698621 | DES | n.814T>A n.728T>A c.1340T>A (p.Met447Lys) n.195T>A c.1337T>A (p.Met446Lys) c.908T>A (p.Met303Lys) c.1271T>A (p.Met424Lys) c.1319T>A (p.Met440Lys) c.1070T>A (p.Met357Lys) | |
| 2 | g.219425714T>C | CA350698624 | DES | n.814T>C n.728T>C c.1340T>C (p.Met447Thr) n.195T>C c.1337T>C (p.Met446Thr) c.908T>C (p.Met303Thr) c.1271T>C (p.Met424Thr) c.1319T>C (p.Met440Thr) c.1070T>C (p.Met357Thr) | dbSNP gnomAD v4 |
| 2 | g.219425714T>G | CA350698627 | DES | n.814T>G n.728T>G c.1340T>G (p.Met447Arg) n.195T>G c.1337T>G (p.Met446Arg) c.908T>G (p.Met303Arg) c.1271T>G (p.Met424Arg) c.1319T>G (p.Met440Arg) c.1070T>G (p.Met357Arg) | |
| 2 | g.219425714T= | CA1329213123 | DES | n.814T= n.728T= c.1340T= (p.Met447=) n.195T= c.1337T= (p.Met446=) c.908T= (p.Met303=) c.1271T= (p.Met424=) c.1319T= (p.Met440=) c.1070T= (p.Met357=) | |
| 2 | g.219425715G>A | CA350698628 | DES | n.815G>A n.729G>A c.1341G>A (p.Met447Ile) n.196G>A c.1338G>A (p.Met446Ile) c.909G>A (p.Met303Ile) c.1272G>A (p.Met424Ile) c.1320G>A (p.Met440Ile) c.1071G>A (p.Met357Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.219425715G>C | CA350698629 | DES | n.815G>C n.729G>C c.1341G>C (p.Met447Ile) n.196G>C c.1338G>C (p.Met446Ile) c.909G>C (p.Met303Ile) c.1272G>C (p.Met424Ile) c.1320G>C (p.Met440Ile) c.1071G>C (p.Met357Ile) | |
| 2 | g.219425715G= | CA1329213125 | DES | n.815G= n.729G= c.1341G= (p.Met447=) n.196G= c.1338G= (p.Met446=) c.909G= (p.Met303=) c.1272G= (p.Met424=) c.1320G= (p.Met440=) c.1071G= (p.Met357=) | |
| 2 | g.219425715G>T | CA350698630 | DES | n.815G>T n.729G>T c.1341G>T (p.Met447Ile) n.196G>T c.1338G>T (p.Met446Ile) c.909G>T (p.Met303Ile) c.1272G>T (p.Met424Ile) c.1320G>T (p.Met440Ile) c.1071G>T (p.Met357Ile) | gnomAD v4 |
| 2 | g.219425715_219425724delinsGATCAAGACC | CA1329213124 | DES | n.815_824delinsGATCAAGACC n.729_738delinsGATCAAGACC c.1341_1350delinsGATCAAGACC (p.Met447=) n.196_205delinsGATCAAGACC c.1338_1347delinsGATCAAGACC (p.Met446=) c.909_918delinsGATCAAGACC (p.Met303=) c.1272_1281delinsGATCAAGACC (p.Met424=) c.1320_1329delinsGATCAAGACC (p.Met440=) c.1071_1080delinsGATCAAGACC (p.Met357=) | |
| 2 | g.219425716A= | CA1329213126 | DES | n.816A= n.730A= c.1342A= (p.Ile448=) n.197A= c.1339A= (p.Ile447=) c.910A= (p.Ile304=) c.1273A= (p.Ile425=) c.1321A= (p.Ile441=) c.1072A= (p.Ile358=) | |
| 2 | g.219425716A>C | CA350698632 | DES | n.816A>C n.730A>C c.1342A>C (p.Ile448Leu) n.197A>C c.1339A>C (p.Ile447Leu) c.910A>C (p.Ile304Leu) c.1273A>C (p.Ile425Leu) c.1321A>C (p.Ile441Leu) c.1072A>C (p.Ile358Leu) | |
| 2 | g.219425716A>G | CA350698634 | DES | n.816A>G n.730A>G c.1342A>G (p.Ile448Val) n.197A>G c.1339A>G (p.Ile447Val) c.910A>G (p.Ile304Val) c.1273A>G (p.Ile425Val) c.1321A>G (p.Ile441Val) c.1072A>G (p.Ile358Val) | ClinVar dbSNP |
| 2 | g.219425716A>T | CA350698637 | DES | n.816A>T n.730A>T c.1342A>T (p.Ile448Phe) n.197A>T c.1339A>T (p.Ile447Phe) c.910A>T (p.Ile304Phe) c.1273A>T (p.Ile425Phe) c.1321A>T (p.Ile441Phe) c.1072A>T (p.Ile358Phe) | |
| 2 | g.219425719_219425727del | CA16617482 | DES | n.819_827del n.733_741del c.1345_1353del (p.Lys449_Ile451del) n.200_208del c.1342_1350del (p.Lys448_Ile450del) c.913_921del (p.Lys305_Ile307del) c.1276_1284del (p.Lys426_Ile428del) c.1324_1332del (p.Lys442_Ile444del) c.1075_1083del (p.Lys359_Ile361del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.219425717T>A | CA350698641 | DES | n.817T>A n.731T>A c.1343T>A (p.Ile448Asn) n.198T>A c.1340T>A (p.Ile447Asn) c.911T>A (p.Ile304Asn) c.1274T>A (p.Ile425Asn) c.1322T>A (p.Ile441Asn) c.1073T>A (p.Ile358Asn) | |
| 2 | g.219425717T>C | CA350698646 | DES | n.817T>C n.731T>C c.1343T>C (p.Ile448Thr) n.198T>C c.1340T>C (p.Ile447Thr) c.911T>C (p.Ile304Thr) c.1274T>C (p.Ile425Thr) c.1322T>C (p.Ile441Thr) c.1073T>C (p.Ile358Thr) |