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.139561856T>A | CA414446303 | F9 | c.1171T>A (p.Tyr391Asn) n.1723+115T>A c.1057T>A (p.Tyr353Asn) c.1042T>A (p.Tyr348Asn) | |
| X | g.139561856T>C | CA414446306 | F9 | c.1171T>C (p.Tyr391His) n.1723+115T>C c.1057T>C (p.Tyr353His) c.1042T>C (p.Tyr348His) | |
| X | g.139561856T>G | CA414446309 | F9 | c.1171T>G (p.Tyr391Asp) n.1723+115T>G c.1057T>G (p.Tyr353Asp) c.1042T>G (p.Tyr348Asp) | |
| X | g.139561857A>C | CA414446312 | F9 | c.1172A>C (p.Tyr391Ser) n.1723+116A>C c.1058A>C (p.Tyr353Ser) c.1043A>C (p.Tyr348Ser) | |
| X | g.139561857A>G | CA414446315 | F9 | c.1172A>G (p.Tyr391Cys) n.1723+116A>G c.1058A>G (p.Tyr353Cys) c.1043A>G (p.Tyr348Cys) | |
| X | g.139561857A>T | CA414446313 | F9 | c.1172A>T (p.Tyr391Phe) n.1723+116A>T c.1058A>T (p.Tyr353Phe) c.1043A>T (p.Tyr348Phe) | |
| X | g.139561858T>A | CA414446316 | F9 | c.1173T>A (p.Tyr391Ter) n.1723+117T>A c.1059T>A (p.Tyr353Ter) c.1044T>A (p.Tyr348Ter) | ClinVar dbSNP |
| X | g.139561858T>C | CA518917105 | F9 | c.1173T>C (p.Tyr391=) n.1723+117T>C c.1059T>C (p.Tyr353=) c.1044T>C (p.Tyr348=) | |
| X | g.139561858T>G | CA414446317 | F9 | c.1173T>G (p.Tyr391Ter) n.1723+117T>G c.1059T>G (p.Tyr353Ter) c.1044T>G (p.Tyr348Ter) | |
| X | g.139561858T= | CA2461412206 | F9 | c.1173T= (p.Tyr391=) n.1723+117T= c.1059T= (p.Tyr353=) c.1044T= (p.Tyr348=) | |
| X | g.139561859A= | CA2461412208 | F9 | c.1174A= (p.Asn392=) n.1723+118A= c.1060A= (p.Asn354=) c.1045A= (p.Asn349=) | |
| X | g.139561859A>C | CA414446318 | F9 | c.1174A>C (p.Asn392His) n.1723+118A>C c.1060A>C (p.Asn354His) c.1045A>C (p.Asn349His) | |
| X | g.139561859A>G | CA414446319 | F9 | c.1174A>G (p.Asn392Asp) n.1723+118A>G c.1060A>G (p.Asn354Asp) c.1045A>G (p.Asn349Asp) | ClinVar dbSNP gnomAD v4 |
| X | g.139561859A>T | CA414446321 | F9 | c.1174A>T (p.Asn392Tyr) n.1723+118A>T c.1060A>T (p.Asn354Tyr) c.1045A>T (p.Asn349Tyr) | |
| X | g.139561859_139561860dup | CA2461412207 | F9 | c.1174_1175dup (p.Asn392LysfsTer?) n.1723+118_1723+119dup c.1060_1061dup (p.Asn354LysfsTer?) c.1045_1046dup (p.Asn349LysfsTer?) | dbSNP |
| X | g.139561860del | CA2695236367 | F9 | c.1175del (p.Asn392ThrfsTer?) n.1723+119del c.1061del (p.Asn354ThrfsTer?) c.1046del (p.Asn349ThrfsTer?) | |
| X | g.139561863_139561865del | CA2580612307 | F9 | c.1178_1180del (p.Asn393del) n.1723+122_1723+124del c.1064_1066del (p.Asn355del) c.1049_1051del (p.Asn350del) | ClinVar |
| X | g.139561860A= | CA2461412209 | F9 | c.1175A= (p.Asn392=) n.1723+119A= c.1061A= (p.Asn354=) c.1046A= (p.Asn349=) | |
| X | g.139561860A>C | CA414446325 | F9 | c.1175A>C (p.Asn392Thr) n.1723+119A>C c.1061A>C (p.Asn354Thr) c.1046A>C (p.Asn349Thr) | |
| X | g.139561860A>G | CA414446323 | F9 | c.1175A>G (p.Asn392Ser) n.1723+119A>G c.1061A>G (p.Asn354Ser) c.1046A>G (p.Asn349Ser) | dbSNP |
| X | g.139561860A>T | CA414446322 | F9 | c.1175A>T (p.Asn392Ile) n.1723+119A>T c.1061A>T (p.Asn354Ile) c.1046A>T (p.Asn349Ile) | |
| X | g.139561860_139561864delinsG | CA2695236370 | F9 | c.1175_1179delinsG (p.Asn392ArgfsTer?) n.1723+119_1723+123delinsG c.1061_1065delinsG (p.Asn354ArgfsTer?) c.1046_1050delinsG (p.Asn349ArgfsTer?) | |
| X | g.139561861_139561865del | CA2695236371 | F9 | c.1176_1180del (p.Asn393ValfsTer7) n.1723+120_1723+124del c.1062_1066del (p.Asn355ValfsTer7) c.1047_1051del (p.Asn350ValfsTer7) | |
| X | g.139561861C>A | CA414446327 | F9 | c.1176C>A (p.Asn392Lys) n.1723+120C>A c.1062C>A (p.Asn354Lys) c.1047C>A (p.Asn349Lys) | |
| X | g.139561861C= | CA2461412210 | F9 | c.1176C= (p.Asn392=) n.1723+120C= c.1062C= (p.Asn354=) c.1047C= (p.Asn349=) | |
| X | g.139561861C>G | CA414446328 | F9 | c.1176C>G (p.Asn392Lys) n.1723+120C>G c.1062C>G (p.Asn354Lys) c.1047C>G (p.Asn349Lys) | |
| X | g.139561861C>T | CA10529877 | F9 | c.1176C>T (p.Asn392=) n.1723+120C>T c.1062C>T (p.Asn354=) c.1047C>T (p.Asn349=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.139561862A>C | CA414446329 | F9 | c.1177A>C (p.Asn393His) n.1723+121A>C c.1063A>C (p.Asn355His) c.1048A>C (p.Asn350His) | |
| X | g.139561862A>G | CA414446330 | F9 | c.1177A>G (p.Asn393Asp) n.1723+121A>G c.1063A>G (p.Asn355Asp) c.1048A>G (p.Asn350Asp) | |
| X | g.139561862A>T | CA414446331 | F9 | c.1177A>T (p.Asn393Tyr) n.1723+121A>T c.1063A>T (p.Asn355Tyr) c.1048A>T (p.Asn350Tyr) | |
| X | g.139561863A= | CA2461412211 | F9 | c.1178A= (p.Asn393=) n.1723+122A= c.1064A= (p.Asn355=) c.1049A= (p.Asn350=) | |
| X | g.139561863A>C | CA414446332 | F9 | c.1178A>C (p.Asn393Thr) n.1723+122A>C c.1064A>C (p.Asn355Thr) c.1049A>C (p.Asn350Thr) | |
| X | g.139561863A>G | CA414446335 | F9 | c.1178A>G (p.Asn393Ser) n.1723+122A>G c.1064A>G (p.Asn355Ser) c.1049A>G (p.Asn350Ser) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.139561863A>T | CA414446334 | F9 | c.1178A>T (p.Asn393Ile) n.1723+122A>T c.1064A>T (p.Asn355Ile) c.1049A>T (p.Asn350Ile) | dbSNP |
| X | g.139561863_139561874delinsCCATGTTCTGTA | CA2695236373 | F9 | c.1178_1189delinsCCATGTTCTGTA (p.Asn393_Ala397delinsThrMetPheCysThr) n.1723+122_1723+133delinsCCATGTTCTGTA c.1064_1075delinsCCATGTTCTGTA (p.Asn355_Ala359delinsThrMetPheCysThr) c.1049_1060delinsCCATGTTCTGTA (p.Asn350_Ala354delinsThrMetPheCysThr) | |
| X | g.139561864C>A | CA414446337 | F9 | c.1179C>A (p.Asn393Lys) n.1723+123C>A c.1065C>A (p.Asn355Lys) c.1050C>A (p.Asn350Lys) | dbSNP |
| X | g.139561864C= | CA2461412212 | F9 | c.1179C= (p.Asn393=) n.1723+123C= c.1065C= (p.Asn355=) c.1050C= (p.Asn350=) | |
| X | g.139561864C>G | CA414446339 | F9 | c.1179C>G (p.Asn393Lys) n.1723+123C>G c.1065C>G (p.Asn355Lys) c.1050C>G (p.Asn350Lys) | |
| X | g.139561864C>T | CA518917106 | F9 | c.1179C>T (p.Asn393=) n.1723+123C>T c.1065C>T (p.Asn355=) c.1050C>T (p.Asn350=) | |
| X | g.139561865del | CA2695236375 | F9 | c.1180del (p.Met394CysfsTer?) n.1723+124del c.1066del (p.Met356CysfsTer?) c.1051del (p.Met351CysfsTer?) | |
| X | g.139561865A= | CA2461412213 | F9 | c.1180A= (p.Met394=) n.1723+124A= c.1066A= (p.Met356=) c.1051A= (p.Met351=) | |
| X | g.139561865A>C | CA414446340 | F9 | c.1180A>C (p.Met394Leu) n.1723+124A>C c.1066A>C (p.Met356Leu) c.1051A>C (p.Met351Leu) | COSMIC |
| X | g.139561865A>G | CA255402 | F9 | c.1180A>G (p.Met394Val) n.1723+124A>G c.1066A>G (p.Met356Val) c.1051A>G (p.Met351Val) | ClinVar dbSNP |
| X | g.139561865A>T | CA414446342 | F9 | c.1180A>T (p.Met394Leu) n.1723+124A>T c.1066A>T (p.Met356Leu) c.1051A>T (p.Met351Leu) | |
| X | g.139561866T>A | CA414446344 | F9 | c.1181T>A (p.Met394Lys) n.1723+125T>A c.1067T>A (p.Met356Lys) c.1052T>A (p.Met351Lys) | |
| X | g.139561866T>C | CA414446345 | F9 | c.1181T>C (p.Met394Thr) n.1723+125T>C c.1067T>C (p.Met356Thr) c.1052T>C (p.Met351Thr) | |
| X | g.139561866T>G | CA414446346 | F9 | c.1181T>G (p.Met394Arg) n.1723+125T>G c.1067T>G (p.Met356Arg) c.1052T>G (p.Met351Arg) | |
| X | g.139561867G>A | CA414446348 | F9 | c.1182G>A (p.Met394Ile) n.1723+126G>A c.1068G>A (p.Met356Ile) c.1053G>A (p.Met351Ile) | ClinVar dbSNP |
| X | g.139561867G>C | CA414446350 | F9 | c.1182G>C (p.Met394Ile) n.1723+126G>C c.1068G>C (p.Met356Ile) c.1053G>C (p.Met351Ile) | |
| X | g.139561867G= | CA2461412214 | F9 | c.1182G= (p.Met394=) n.1723+126G= c.1068G= (p.Met356=) c.1053G= (p.Met351=) |