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 |
|---|---|---|---|---|---|
| X | g.154966464_154966467delinsGTCC | CA2466848100 | F8 | c.1230_1233delinsGGAC (p.Glu410=) c.*1106_*1109delinsGGAC (n.*1106_*1109delinsGGAC) n.50_53delinsGGAC c.1125_1128delinsGGAC (p.Glu375=) | |
| X | g.154966465T>A | CA414915950 | F8 | c.1232A>T (p.Asp411Val) c.*1108A>T (n.*1108A>T) n.52A>T c.1127A>T (p.Asp376Val) | |
| X | g.154966465T>C | CA414915952 | F8 | c.1232A>G (p.Asp411Gly) c.*1108A>G (n.*1108A>G) n.52A>G c.1127A>G (p.Asp376Gly) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154966465T>G | CA414915953 | F8 | c.1232A>C (p.Asp411Ala) c.*1108A>C (n.*1108A>C) n.52A>C c.1127A>C (p.Asp376Ala) | |
| X | g.154966465T= | CA2466848101 | F8 | c.1232A= (p.Asp411=) c.*1108A= (n.*1108A=) n.52A= c.1127A= (p.Asp376=) | |
| X | g.154966470_154966472del | CA873344457 | F8 | c.1230_1232del (p.Glu410del) c.*1106_*1108del (n.*1106_*1108del) n.50_52del c.1125_1127del (p.Glu375del) | dbSNP |
| X | g.154966466C>A | CA414915954 | F8 | c.1231G>T (p.Asp411Tyr) c.*1107G>T (n.*1107G>T) n.51G>T c.1126G>T (p.Asp376Tyr) | gnomAD v4 |
| X | g.154966466C= | CA2466848102 | F8 | c.1231G= (p.Asp411=) c.*1107G= (n.*1107G=) n.51G= c.1126G= (p.Asp376=) | |
| X | g.154966466C>G | CA414915955 | F8 | c.1231G>C (p.Asp411His) c.*1107G>C (n.*1107G>C) n.51G>C c.1126G>C (p.Asp376His) | COSMIC COSMIC |
| X | g.154966466C>T | CA414915957 | F8 | c.1231G>A (p.Asp411Asn) c.*1107G>A (n.*1107G>A) n.51G>A c.1126G>A (p.Asp376Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| X | g.154966467C>A | CA414915962 | F8 | c.1230G>T (p.Glu410Asp) c.*1106G>T (n.*1106G>T) n.50G>T c.1125G>T (p.Glu375Asp) | |
| X | g.154966467C>G | CA414915966 | F8 | c.1230G>C (p.Glu410Asp) c.*1106G>C (n.*1106G>C) n.50G>C c.1125G>C (p.Glu375Asp) | |
| X | g.154966467C>T | CA519364252 | F8 | c.1230G>A (p.Glu410=) c.*1106G>A (n.*1106G>A) n.50G>A c.1125G>A (p.Glu375=) | |
| X | g.154966468T>A | CA414915970 | F8 | c.1229A>T (p.Glu410Val) c.*1105A>T (n.*1105A>T) n.49A>T c.1124A>T (p.Glu375Val) | |
| X | g.154966468T>C | CA414915973 | F8 | c.1229A>G (p.Glu410Gly) c.*1105A>G (n.*1105A>G) n.49A>G c.1124A>G (p.Glu375Gly) | |
| X | g.154966468T>G | CA414915976 | F8 | c.1229A>C (p.Glu410Ala) c.*1105A>C (n.*1105A>C) n.49A>C c.1124A>C (p.Glu375Ala) | |
| X | g.154966469C>A | CA414915986 | F8 | c.1228G>T (p.Glu410Ter) c.*1104G>T (n.*1104G>T) n.48G>T c.1123G>T (p.Glu375Ter) | |
| X | g.154966469C>G | CA414915983 | F8 | c.1228G>C (p.Glu410Gln) c.*1104G>C (n.*1104G>C) n.48G>C c.1123G>C (p.Glu375Gln) | |
| X | g.154966469C>T | CA414915984 | F8 | c.1228G>A (p.Glu410Lys) c.*1104G>A (n.*1104G>A) n.48G>A c.1123G>A (p.Glu375Lys) | gnomAD v4 |
| X | g.154966470C>A | CA414915989 | F8 | c.1227G>T (p.Glu409Asp) c.*1103G>T (n.*1103G>T) n.47G>T c.1122G>T (p.Glu374Asp) | dbSNP |
| X | g.154966470C= | CA2466848103 | F8 | c.1227G= (p.Glu409=) c.*1103G= (n.*1103G=) n.47G= c.1122G= (p.Glu374=) | |
| X | g.154966470C>G | CA414915990 | F8 | c.1227G>C (p.Glu409Asp) c.*1103G>C (n.*1103G>C) n.47G>C c.1122G>C (p.Glu374Asp) | |
| X | g.154966470C>T | CA519364260 | F8 | c.1227G>A (p.Glu409=) c.*1103G>A (n.*1103G>A) n.47G>A c.1122G>A (p.Glu374=) | COSMIC COSMIC |
| X | g.154966471T>A | CA414915991 | F8 | c.1226A>T (p.Glu409Val) c.*1102A>T (n.*1102A>T) n.46A>T c.1121A>T (p.Glu374Val) | |
| X | g.154966471T>C | CA255099 | F8 | c.1226A>G (p.Glu409Gly) c.*1102A>G (n.*1102A>G) n.46A>G c.1121A>G (p.Glu374Gly) | ClinVar dbSNP |
| X | g.154966471T>G | CA414915994 | F8 | c.1226A>C (p.Glu409Ala) c.*1102A>C (n.*1102A>C) n.46A>C c.1121A>C (p.Glu374Ala) | |
| X | g.154966471T= | CA2466848104 | F8 | c.1226A= (p.Glu409=) c.*1102A= (n.*1102A=) n.46A= c.1121A= (p.Glu374=) | |
| X | g.154966472C>A | CA414916000 | F8 | c.1225G>T (p.Glu409Ter) c.*1101G>T (n.*1101G>T) n.45G>T c.1120G>T (p.Glu374Ter) | |
| X | g.154966472C>G | CA414916003 | F8 | c.1225G>C (p.Glu409Gln) c.*1101G>C (n.*1101G>C) n.45G>C c.1120G>C (p.Glu374Gln) | |
| X | g.154966472C>T | CA414916007 | F8 | c.1225G>A (p.Glu409Lys) c.*1101G>A (n.*1101G>A) n.45G>A c.1120G>A (p.Glu374Lys) | |
| X | g.154966473T>A | CA414916014 | F8 | c.1224A>T (p.Glu408Asp) c.*1100A>T (n.*1100A>T) n.44A>T c.1119A>T (p.Glu373Asp) | |
| X | g.154966473T>C | CA519364271 | F8 | c.1224A>G (p.Glu408=) c.*1100A>G (n.*1100A>G) n.44A>G c.1119A>G (p.Glu373=) | |
| X | g.154966473T>G | CA414916017 | F8 | c.1224A>C (p.Glu408Asp) c.*1100A>C (n.*1100A>C) n.44A>C c.1119A>C (p.Glu373Asp) | |
| X | g.154966474T>A | CA414916034 | F8 | c.1223A>T (p.Glu408Val) c.*1099A>T (n.*1099A>T) n.43A>T c.1118A>T (p.Glu373Val) | |
| X | g.154966474T>C | CA414916032 | F8 | c.1223A>G (p.Glu408Gly) c.*1099A>G (n.*1099A>G) n.43A>G c.1118A>G (p.Glu373Gly) | |
| X | g.154966474T>G | CA414916023 | F8 | c.1223A>C (p.Glu408Ala) c.*1099A>C (n.*1099A>C) n.43A>C c.1118A>C (p.Glu373Ala) | |
| X | g.154966475C>A | CA414916047 | F8 | c.1222G>T (p.Glu408Ter) c.*1098G>T (n.*1098G>T) n.42G>T c.1117G>T (p.Glu373Ter) | |
| X | g.154966475C>G | CA414916056 | F8 | c.1222G>C (p.Glu408Gln) c.*1098G>C (n.*1098G>C) n.42G>C c.1117G>C (p.Glu373Gln) | |
| X | g.154966475C>T | CA414916053 | F8 | c.1222G>A (p.Glu408Lys) c.*1098G>A (n.*1098G>A) n.42G>A c.1117G>A (p.Glu373Lys) | |
| X | g.154966476A>C | CA519364276 | F8 | c.1221T>G (p.Ala407=) c.*1097T>G (n.*1097T>G) n.41T>G c.1116T>G (p.Ala372=) | |
| X | g.154966476A>G | CA519364279 | F8 | c.1221T>C (p.Ala407=) c.*1097T>C (n.*1097T>C) n.41T>C c.1116T>C (p.Ala372=) | |
| X | g.154966476A>T | CA519364282 | F8 | c.1221T>A (p.Ala407=) c.*1097T>A (n.*1097T>A) n.41T>A c.1116T>A (p.Ala372=) | |
| X | g.154966477del | CA2695237352 | F8 | c.1220del (p.Ala407ValfsTer11) c.*1096del (n.*1096del) n.40del c.1115del (p.Ala372ValfsTer11) | |
| X | g.154966477G>A | CA414916060 | F8 | c.1220C>T (p.Ala407Val) c.*1096C>T (n.*1096C>T) n.40C>T c.1115C>T (p.Ala372Val) | |
| X | g.154966477G>C | CA414916063 | F8 | c.1220C>G (p.Ala407Gly) c.*1096C>G (n.*1096C>G) n.40C>G c.1115C>G (p.Ala372Gly) | |
| X | g.154966477G>T | CA414916064 | F8 | c.1220C>A (p.Ala407Asp) c.*1096C>A (n.*1096C>A) n.40C>A c.1115C>A (p.Ala372Asp) | |
| X | g.154966478C>A | CA414916069 | F8 | c.1219G>T (p.Ala407Ser) c.*1095G>T (n.*1095G>T) n.39G>T c.1114G>T (p.Ala372Ser) | |
| X | g.154966478C>G | CA414916071 | F8 | c.1219G>C (p.Ala407Pro) c.*1095G>C (n.*1095G>C) n.39G>C c.1114G>C (p.Ala372Pro) | |
| X | g.154966478C>T | CA414916073 | F8 | c.1219G>A (p.Ala407Thr) c.*1095G>A (n.*1095G>A) n.39G>A c.1114G>A (p.Ala372Thr) | |
| X | g.154966479A= | CA2466848105 | F8 | c.1218T= (p.Ala406=) c.*1094T= (n.*1094T=) n.38T= c.1113T= (p.Ala371=) |