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.51916107_51916124del | CA2695216674 | ACVRL1 | c.850_867del (p.Arg284_Glu289del) c.1120_1137del (p.Arg374_Glu379del) c.598_615del (p.Arg200_Glu205del) n.395_412del c.1162_1179del (p.Arg388_Glu393del) c.125_142del c.331_348del (p.Arg111_Glu116del) | |
| 12 | g.51916110_51916148dup | CA2580086498 | ACVRL1 | c.853_891dup (p.Thr297_Asp298insTyrMetAlaProGluValLeuAspGluGlnIleArgThr) c.1123_1161dup (p.Thr387_Asp388insTyrMetAlaProGluValLeuAspGluGlnIleArgThr) c.601_639dup (p.Thr213_Asp214insTyrMetAlaProGluValLeuAspGluGlnIleArgThr) n.398_436dup c.1165_1203dup (p.Thr401_Asp402insTyrMetAlaProGluValLeuAspGluGlnIleArgThr) c.128_166dup c.334_372dup (p.Thr124_Asp125insTyrMetAlaProGluValLeuAspGluGlnIleArgThr) | ClinVar |
| 12 | g.51916124G>A | CA6573074 | ACVRL1 | c.867G>A (p.Glu289=) c.1137G>A (p.Glu379=) c.615G>A (p.Glu205=) n.412G>A c.1179G>A (p.Glu393=) c.142G>A c.348G>A (p.Glu116=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51916124G>C | CA384902520 | ACVRL1 | c.867G>C (p.Glu289Asp) c.1137G>C (p.Glu379Asp) c.615G>C (p.Glu205Asp) n.412G>C c.1179G>C (p.Glu393Asp) c.142G>C c.348G>C (p.Glu116Asp) | |
| 12 | g.51916124G= | CA2036236946 | ACVRL1 | c.867G= (p.Glu289=) c.1137G= (p.Glu379=) c.615G= (p.Glu205=) n.412G= c.1179G= (p.Glu393=) c.142G= c.348G= (p.Glu116=) | |
| 12 | g.51916124G>T | CA384902517 | ACVRL1 | c.867G>T (p.Glu289Asp) c.1137G>T (p.Glu379Asp) c.615G>T (p.Glu205Asp) n.412G>T c.1179G>T (p.Glu393Asp) c.142G>T c.348G>T (p.Glu116Asp) | |
| 12 | g.51916125G>A | CA6573075 | ACVRL1 | c.868G>A (p.Val290Met) c.1138G>A (p.Val380Met) c.616G>A (p.Val206Met) n.413G>A c.1180G>A (p.Val394Met) c.143G>A c.349G>A (p.Val117Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.51916125G>C | CA384902526 | ACVRL1 | c.868G>C (p.Val290Leu) c.1138G>C (p.Val380Leu) c.616G>C (p.Val206Leu) n.413G>C c.1180G>C (p.Val394Leu) c.143G>C c.349G>C (p.Val117Leu) | |
| 12 | g.51916125G= | CA2036236948 | ACVRL1 | c.868G= (p.Val290=) c.1138G= (p.Val380=) c.616G= (p.Val206=) n.413G= c.1180G= (p.Val394=) c.143G= c.349G= (p.Val117=) | |
| 12 | g.51916125G>T | CA384902523 | ACVRL1 | c.868G>T (p.Val290Leu) c.1138G>T (p.Val380Leu) c.616G>T (p.Val206Leu) n.413G>T c.1180G>T (p.Val394Leu) c.143G>T c.349G>T (p.Val117Leu) | gnomAD v4 |
| 12 | g.51916125_51916126delinsTG | CA645594554 | ACVRL1 | c.868_869delinsTG (p.Val290Trp) c.1138_1139delinsTG (p.Val380Trp) c.616_617delinsTG (p.Val206Trp) n.413_414delinsTG c.1180_1181delinsTG (p.Val394Trp) c.143_144delinsTG c.349_350delinsTG (p.Val117Trp) | COSMIC |
| 12 | g.51916126T>A | CA384902528 | ACVRL1 | c.869T>A (p.Val290Glu) c.1139T>A (p.Val380Glu) c.617T>A (p.Val206Glu) n.414T>A c.1181T>A (p.Val394Glu) c.144T>A c.350T>A (p.Val117Glu) | |
| 12 | g.51916126T>C | CA384902536 | ACVRL1 | c.869T>C (p.Val290Ala) c.1139T>C (p.Val380Ala) c.617T>C (p.Val206Ala) n.414T>C c.1181T>C (p.Val394Ala) c.144T>C c.350T>C (p.Val117Ala) | |
| 12 | g.51916126T>G | CA384902538 | ACVRL1 | c.869T>G (p.Val290Gly) c.1139T>G (p.Val380Gly) c.617T>G (p.Val206Gly) n.414T>G c.1181T>G (p.Val394Gly) c.144T>G c.350T>G (p.Val117Gly) | |
| 12 | g.51916127G>A | CA479810736 | ACVRL1 | c.870G>A (p.Val290=) c.1140G>A (p.Val380=) c.618G>A (p.Val206=) n.415G>A c.1182G>A (p.Val394=) c.145G>A c.351G>A (p.Val117=) | |
| 12 | g.51916127G>C | CA479810739 | ACVRL1 | c.870G>C (p.Val290=) c.1140G>C (p.Val380=) c.618G>C (p.Val206=) n.415G>C c.1182G>C (p.Val394=) c.145G>C c.351G>C (p.Val117=) | |
| 12 | g.51916127G>T | CA479810746 | ACVRL1 | c.870G>T (p.Val290=) c.1140G>T (p.Val380=) c.618G>T (p.Val206=) n.415G>T c.1182G>T (p.Val394=) c.145G>T c.351G>T (p.Val117=) | |
| 12 | g.51916128C>A | CA384902543 | ACVRL1 | c.871C>A (p.Leu291Met) c.1141C>A (p.Leu381Met) c.619C>A (p.Leu207Met) n.416C>A c.1183C>A (p.Leu395Met) c.146C>A c.352C>A (p.Leu118Met) | |
| 12 | g.51916128C>G | CA384902550 | ACVRL1 | c.871C>G (p.Leu291Val) c.1141C>G (p.Leu381Val) c.619C>G (p.Leu207Val) n.416C>G c.1183C>G (p.Leu395Val) c.146C>G c.352C>G (p.Leu118Val) | |
| 12 | g.51916128C>T | CA479810754 | ACVRL1 | c.871C>T (p.Leu291=) c.1141C>T (p.Leu381=) c.619C>T (p.Leu207=) n.416C>T c.1183C>T (p.Leu395=) c.146C>T c.352C>T (p.Leu118=) | dbSNP |
| 12 | g.51916129T>A | CA384902558 | ACVRL1 | c.872T>A (p.Leu291Gln) c.1142T>A (p.Leu381Gln) c.620T>A (p.Leu207Gln) n.417T>A c.1184T>A (p.Leu395Gln) c.147T>A c.353T>A (p.Leu118Gln) | |
| 12 | g.51916129T>C | CA384902555 | ACVRL1 | c.872T>C (p.Leu291Pro) c.1142T>C (p.Leu381Pro) c.620T>C (p.Leu207Pro) n.417T>C c.1184T>C (p.Leu395Pro) c.147T>C c.353T>C (p.Leu118Pro) | ClinVar dbSNP |
| 12 | g.51916129T>G | CA384902554 | ACVRL1 | c.872T>G (p.Leu291Arg) c.1142T>G (p.Leu381Arg) c.620T>G (p.Leu207Arg) n.417T>G c.1184T>G (p.Leu395Arg) c.147T>G c.353T>G (p.Leu118Arg) | |
| 12 | g.51916129T= | CA2036236956 | ACVRL1 | c.872T= (p.Leu291=) c.1142T= (p.Leu381=) c.620T= (p.Leu207=) n.417T= c.1184T= (p.Leu395=) c.147T= c.353T= (p.Leu118=) | |
| 12 | g.51916129_51916130delinsTG | CA2036236953 | ACVRL1 | c.872_873delinsTG (p.Leu291=) c.1142_1143delinsTG (p.Leu381=) c.620_621delinsTG (p.Leu207=) n.417_418delinsTG c.1184_1185delinsTG (p.Leu395=) c.147_148delinsTG c.353_354delinsTG (p.Leu118=) | |
| 12 | g.51916130G>A | CA479810759 | ACVRL1 | c.873G>A (p.Leu291=) c.1143G>A (p.Leu381=) c.621G>A (p.Leu207=) n.418G>A c.1185G>A (p.Leu395=) c.148G>A c.354G>A (p.Leu118=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51916130G>C | CA479810766 | ACVRL1 | c.873G>C (p.Leu291=) c.1143G>C (p.Leu381=) c.621G>C (p.Leu207=) n.418G>C c.1185G>C (p.Leu395=) c.148G>C c.354G>C (p.Leu118=) | |
| 12 | g.51916130G= | CA2036236962 | ACVRL1 | c.873G= (p.Leu291=) c.1143G= (p.Leu381=) c.621G= (p.Leu207=) n.418G= c.1185G= (p.Leu395=) c.148G= c.354G= (p.Leu118=) | |
| 12 | g.51916130G>T | CA479810781 | ACVRL1 | c.873G>T (p.Leu291=) c.1143G>T (p.Leu381=) c.621G>T (p.Leu207=) n.418G>T c.1185G>T (p.Leu395=) c.148G>T c.354G>T (p.Leu118=) | |
| 12 | g.51916131del | CA913190987 | ACVRL1 | c.874del (p.Asp292ThrfsTer?) c.1144del (p.Asp382ThrfsTer?) c.622del (p.Asp208ThrfsTer?) n.419del c.1186del (p.Asp396ThrfsTer?) c.149del c.355del (p.Asp119ThrfsTer?) | ClinVar dbSNP |
| 12 | g.51916131G>A | CA384902561 | ACVRL1 | c.874G>A (p.Asp292Asn) c.1144G>A (p.Asp382Asn) c.622G>A (p.Asp208Asn) n.419G>A c.1186G>A (p.Asp396Asn) c.149G>A c.355G>A (p.Asp119Asn) | |
| 12 | g.51916131G>C | CA384902564 | ACVRL1 | c.874G>C (p.Asp292His) c.1144G>C (p.Asp382His) c.622G>C (p.Asp208His) n.419G>C c.1186G>C (p.Asp396His) c.149G>C c.355G>C (p.Asp119His) | |
| 12 | g.51916131G>T | CA384902565 | ACVRL1 | c.874G>T (p.Asp292Tyr) c.1144G>T (p.Asp382Tyr) c.622G>T (p.Asp208Tyr) n.419G>T c.1186G>T (p.Asp396Tyr) c.149G>T c.355G>T (p.Asp119Tyr) | |
| 12 | g.51916132A>C | CA384902568 | ACVRL1 | c.875A>C (p.Asp292Ala) c.1145A>C (p.Asp382Ala) c.623A>C (p.Asp208Ala) n.420A>C c.1187A>C (p.Asp396Ala) c.150A>C c.356A>C (p.Asp119Ala) | |
| 12 | g.51916132A>G | CA384902570 | ACVRL1 | c.875A>G (p.Asp292Gly) c.1145A>G (p.Asp382Gly) c.623A>G (p.Asp208Gly) n.420A>G c.1187A>G (p.Asp396Gly) c.150A>G c.356A>G (p.Asp119Gly) | gnomAD v4 |
| 12 | g.51916132A>T | CA384902572 | ACVRL1 | c.875A>T (p.Asp292Val) c.1145A>T (p.Asp382Val) c.623A>T (p.Asp208Val) n.420A>T c.1187A>T (p.Asp396Val) c.150A>T c.356A>T (p.Asp119Val) | |
| 12 | g.51916133C>A | CA384902583 | ACVRL1 | c.876C>A (p.Asp292Glu) c.1146C>A (p.Asp382Glu) c.624C>A (p.Asp208Glu) n.421C>A c.1188C>A (p.Asp396Glu) c.151C>A c.357C>A (p.Asp119Glu) | gnomAD v4 |
| 12 | g.51916133C= | CA2036236965 | ACVRL1 | c.876C= (p.Asp292=) c.1146C= (p.Asp382=) c.624C= (p.Asp208=) n.421C= c.1188C= (p.Asp396=) c.151C= c.357C= (p.Asp119=) | |
| 12 | g.51916133C>G | CA384902576 | ACVRL1 | c.876C>G (p.Asp292Glu) c.1146C>G (p.Asp382Glu) c.624C>G (p.Asp208Glu) n.421C>G c.1188C>G (p.Asp396Glu) c.151C>G c.357C>G (p.Asp119Glu) | |
| 12 | g.51916133C>T | CA6573076 | ACVRL1 | c.876C>T (p.Asp292=) c.1146C>T (p.Asp382=) c.624C>T (p.Asp208=) n.421C>T c.1188C>T (p.Asp396=) c.151C>T c.357C>T (p.Asp119=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51916134G>A | CA6573077 | ACVRL1 | c.877G>A (p.Glu293Lys) c.1147G>A (p.Glu383Lys) c.625G>A (p.Glu209Lys) n.422G>A c.1189G>A (p.Glu397Lys) c.152G>A c.358G>A (p.Glu120Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 12 | g.51916134G>C | CA384902586 | ACVRL1 | c.877G>C (p.Glu293Gln) c.1147G>C (p.Glu383Gln) c.625G>C (p.Glu209Gln) n.422G>C c.1189G>C (p.Glu397Gln) c.152G>C c.358G>C (p.Glu120Gln) | dbSNP gnomAD v4 |
| 12 | g.51916134G= | CA2036236971 | ACVRL1 | c.877G= (p.Glu293=) c.1147G= (p.Glu383=) c.625G= (p.Glu209=) n.422G= c.1189G= (p.Glu397=) c.152G= c.358G= (p.Glu120=) | |
| 12 | g.51916134G>T | CA384902589 | ACVRL1 | c.877G>T (p.Glu293Ter) c.1147G>T (p.Glu383Ter) c.625G>T (p.Glu209Ter) n.422G>T c.1189G>T (p.Glu397Ter) c.152G>T c.358G>T (p.Glu120Ter) | ClinVar dbSNP |
| 12 | g.51916135A>C | CA384902590 | ACVRL1 | c.878A>C (p.Glu293Ala) c.1148A>C (p.Glu383Ala) c.626A>C (p.Glu209Ala) n.423A>C c.1190A>C (p.Glu397Ala) c.153A>C c.359A>C (p.Glu120Ala) | |
| 12 | g.51916135A>G | CA384902591 | ACVRL1 | c.878A>G (p.Glu293Gly) c.1148A>G (p.Glu383Gly) c.626A>G (p.Glu209Gly) n.423A>G c.1190A>G (p.Glu397Gly) c.153A>G c.359A>G (p.Glu120Gly) | |
| 12 | g.51916135A>T | CA384902601 | ACVRL1 | c.878A>T (p.Glu293Val) c.1148A>T (p.Glu383Val) c.626A>T (p.Glu209Val) n.423A>T c.1190A>T (p.Glu397Val) c.153A>T c.359A>T (p.Glu120Val) | |
| 12 | g.51916136G>A | CA6573078 | ACVRL1 | c.879G>A (p.Glu293=) c.1149G>A (p.Glu383=) c.627G>A (p.Glu209=) n.424G>A c.1191G>A (p.Glu397=) c.154G>A c.360G>A (p.Glu120=) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 12 | g.51916136G>C | CA384902607 | ACVRL1 | c.879G>C (p.Glu293Asp) c.1149G>C (p.Glu383Asp) c.627G>C (p.Glu209Asp) n.424G>C c.1191G>C (p.Glu397Asp) c.154G>C c.360G>C (p.Glu120Asp) | |
| 12 | g.51916136G= | CA2036236978 | ACVRL1 | c.879G= (p.Glu293=) c.1149G= (p.Glu383=) c.627G= (p.Glu209=) n.424G= c.1191G= (p.Glu397=) c.154G= c.360G= (p.Glu120=) |