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.51916032_51916038del | CA2618859526 | ACVRL1 | c.779-4_781del c.1049-4_1051del c.527-4_529del n.320_326del c.1091-4_1093del c.54-4_56del c.260-4_262del | gnomAD v4 |
| 12 | g.51916035G>A | CA16614167 | ACVRL1 | c.779-1G>A (n.779-1G>A) c.1049-1G>A (n.1049-1G>A) c.527-1G>A (n.527-1G>A) n.323G>A c.1091-1G>A (n.1091-1G>A) c.54-1G>A c.260-1G>A (n.260-1G>A) | ClinVar dbSNP |
| 12 | g.51916035G>C | CA384901952 | ACVRL1 | c.779-1G>C (n.779-1G>C) c.1049-1G>C (n.1049-1G>C) c.527-1G>C (n.527-1G>C) n.323G>C c.1091-1G>C (n.1091-1G>C) c.54-1G>C c.260-1G>C (n.260-1G>C) | |
| 12 | g.51916035G= | CA2036236709 | ACVRL1 | c.779-1G= (n.779-1G=) c.1049-1G= (n.1049-1G=) c.527-1G= (n.527-1G=) n.323G= c.1091-1G= (n.1091-1G=) c.54-1G= c.260-1G= (n.260-1G=) | |
| 12 | g.51916035G>T | CA384901953 | ACVRL1 | c.779-1G>T (n.779-1G>T) c.1049-1G>T (n.1049-1G>T) c.527-1G>T (n.527-1G>T) n.323G>T c.1091-1G>T (n.1091-1G>T) c.54-1G>T c.260-1G>T (n.260-1G>T) | ClinVar dbSNP |
| 12 | g.51916036G>A | CA6573059 | ACVRL1 | c.779G>A (p.Gly260Asp) c.1049G>A (p.Gly350Asp) c.527G>A (p.Gly176Asp) n.324G>A c.1091G>A (p.Gly364Asp) c.54G>A c.260G>A (p.Gly87Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.51916036G>C | CA384901957 | ACVRL1 | c.779G>C (p.Gly260Ala) c.1049G>C (p.Gly350Ala) c.527G>C (p.Gly176Ala) n.324G>C c.1091G>C (p.Gly364Ala) c.54G>C c.260G>C (p.Gly87Ala) | |
| 12 | g.51916036G= | CA2036236716 | ACVRL1 | c.779G= (p.Gly260=) c.1049G= (p.Gly350=) c.527G= (p.Gly176=) n.324G= c.1091G= (p.Gly364=) c.54G= c.260G= (p.Gly87=) | |
| 12 | g.51916036G>T | CA384901959 | ACVRL1 | c.779G>T (p.Gly260Val) c.1049G>T (p.Gly350Val) c.527G>T (p.Gly176Val) n.324G>T c.1091G>T (p.Gly364Val) c.54G>T c.260G>T (p.Gly87Val) | ClinVar |
| 12 | g.51916037C>A | CA479809905 | ACVRL1 | c.780C>A (p.Gly260=) c.1050C>A (p.Gly350=) c.528C>A (p.Gly176=) n.325C>A c.1092C>A (p.Gly364=) c.55C>A c.261C>A (p.Gly87=) | dbSNP gnomAD v4 |
| 12 | g.51916037C>G | CA479809897 | ACVRL1 | c.780C>G (p.Gly260=) c.1050C>G (p.Gly350=) c.528C>G (p.Gly176=) n.325C>G c.1092C>G (p.Gly364=) c.55C>G c.261C>G (p.Gly87=) | |
| 12 | g.51916037C>T | CA479809900 | ACVRL1 | c.780C>T (p.Gly260=) c.1050C>T (p.Gly350=) c.528C>T (p.Gly176=) n.325C>T c.1092C>T (p.Gly364=) c.55C>T c.261C>T (p.Gly87=) | |
| 12 | g.51916038C>A | CA384901962 | ACVRL1 | c.781C>A (p.Leu261Met) c.1051C>A (p.Leu351Met) c.529C>A (p.Leu177Met) n.326C>A c.1093C>A (p.Leu365Met) c.56C>A c.262C>A (p.Leu88Met) | |
| 12 | g.51916038C>G | CA384901965 | ACVRL1 | c.781C>G (p.Leu261Val) c.1051C>G (p.Leu351Val) c.529C>G (p.Leu177Val) n.326C>G c.1093C>G (p.Leu365Val) c.56C>G c.262C>G (p.Leu88Val) | |
| 12 | g.51916038C>T | CA479809917 | ACVRL1 | c.781C>T (p.Leu261=) c.1051C>T (p.Leu351=) c.529C>T (p.Leu177=) n.326C>T c.1093C>T (p.Leu365=) c.56C>T c.262C>T (p.Leu88=) | |
| 12 | g.51916039T>A | CA384901974 | ACVRL1 | c.782T>A (p.Leu261Gln) c.1052T>A (p.Leu351Gln) c.530T>A (p.Leu177Gln) n.327T>A c.1094T>A (p.Leu365Gln) c.57T>A c.263T>A (p.Leu88Gln) | |
| 12 | g.51916039T>C | CA384901971 | ACVRL1 | c.782T>C (p.Leu261Pro) c.1052T>C (p.Leu351Pro) c.530T>C (p.Leu177Pro) n.327T>C c.1094T>C (p.Leu365Pro) c.57T>C c.263T>C (p.Leu88Pro) | ClinVar |
| 12 | g.51916039T>G | CA384901968 | ACVRL1 | c.782T>G (p.Leu261Arg) c.1052T>G (p.Leu351Arg) c.530T>G (p.Leu177Arg) n.327T>G c.1094T>G (p.Leu365Arg) c.57T>G c.263T>G (p.Leu88Arg) | |
| 12 | g.51916040G>A | CA479809935 | ACVRL1 | c.783G>A (p.Leu261=) c.1053G>A (p.Leu351=) c.531G>A (p.Leu177=) n.328G>A c.1095G>A (p.Leu365=) c.58G>A c.264G>A (p.Leu88=) | |
| 12 | g.51916040G>C | CA479809960 | ACVRL1 | c.783G>C (p.Leu261=) c.1053G>C (p.Leu351=) c.531G>C (p.Leu177=) n.328G>C c.1095G>C (p.Leu365=) c.58G>C c.264G>C (p.Leu88=) | |
| 12 | g.51916040G>T | CA479809940 | ACVRL1 | c.783G>T (p.Leu261=) c.1053G>T (p.Leu351=) c.531G>T (p.Leu177=) n.328G>T c.1095G>T (p.Leu365=) c.58G>T c.264G>T (p.Leu88=) | |
| 12 | g.51916041G>A | CA384901975 | ACVRL1 | c.784G>A (p.Ala262Thr) c.1054G>A (p.Ala352Thr) c.532G>A (p.Ala178Thr) n.329G>A c.1096G>A (p.Ala366Thr) c.59G>A c.265G>A (p.Ala89Thr) | ClinVar |
| 12 | g.51916041G>C | CA384901977 | ACVRL1 | c.784G>C (p.Ala262Pro) c.1054G>C (p.Ala352Pro) c.532G>C (p.Ala178Pro) n.329G>C c.1096G>C (p.Ala366Pro) c.59G>C c.265G>C (p.Ala89Pro) | |
| 12 | g.51916041G>T | CA384901979 | ACVRL1 | c.784G>T (p.Ala262Ser) c.1054G>T (p.Ala352Ser) c.532G>T (p.Ala178Ser) n.329G>T c.1096G>T (p.Ala366Ser) c.59G>T c.265G>T (p.Ala89Ser) | |
| 12 | g.51916041_51916042delinsGC | CA2036236719 | ACVRL1 | c.784_785delinsGC (p.Ala262=) c.1054_1055delinsGC (p.Ala352=) c.532_533delinsGC (p.Ala178=) n.329_330delinsGC c.1096_1097delinsGC (p.Ala366=) c.59_60delinsGC c.265_266delinsGC (p.Ala89=) | |
| 12 | g.51916042del | CA916081670 | ACVRL1 | c.785del (p.Ala262ValfsTer2) c.1055del (p.Ala352ValfsTer2) c.533del (p.Ala178ValfsTer2) n.330del c.1097del (p.Ala366ValfsTer2) c.60del c.266del (p.Ala89ValfsTer2) | ClinVar dbSNP gnomAD v4 |
| 12 | g.51916042C>A | CA384901981 | ACVRL1 | c.785C>A (p.Ala262Asp) c.1055C>A (p.Ala352Asp) c.533C>A (p.Ala178Asp) n.330C>A c.1097C>A (p.Ala366Asp) c.60C>A c.266C>A (p.Ala89Asp) | ClinVar dbSNP gnomAD v4 |
| 12 | g.51916042C= | CA2036236725 | ACVRL1 | c.785C= (p.Ala262=) c.1055C= (p.Ala352=) c.533C= (p.Ala178=) n.330C= c.1097C= (p.Ala366=) c.60C= c.266C= (p.Ala89=) | |
| 12 | g.51916042C>G | CA384901983 | ACVRL1 | c.785C>G (p.Ala262Gly) c.1055C>G (p.Ala352Gly) c.533C>G (p.Ala178Gly) n.330C>G c.1097C>G (p.Ala366Gly) c.60C>G c.266C>G (p.Ala89Gly) | |
| 12 | g.51916042C>T | CA384901991 | ACVRL1 | c.785C>T (p.Ala262Val) c.1055C>T (p.Ala352Val) c.533C>T (p.Ala178Val) n.330C>T c.1097C>T (p.Ala366Val) c.60C>T c.266C>T (p.Ala89Val) | ClinVar |
| 12 | g.51916043T>A | CA479809975 | ACVRL1 | c.786T>A (p.Ala262=) c.1056T>A (p.Ala352=) c.534T>A (p.Ala178=) n.331T>A c.1098T>A (p.Ala366=) c.61T>A c.267T>A (p.Ala89=) | |
| 12 | g.51916043T>C | CA236364811 | ACVRL1 | c.786T>C (p.Ala262=) c.1056T>C (p.Ala352=) c.534T>C (p.Ala178=) n.331T>C c.1098T>C (p.Ala366=) c.61T>C c.267T>C (p.Ala89=) | ClinVar dbSNP gnomAD v4 |
| 12 | g.51916043T>G | CA479809983 | ACVRL1 | c.786T>G (p.Ala262=) c.1056T>G (p.Ala352=) c.534T>G (p.Ala178=) n.331T>G c.1098T>G (p.Ala366=) c.61T>G c.267T>G (p.Ala89=) | |
| 12 | g.51916043T= | CA2036236727 | ACVRL1 | c.786T= (p.Ala262=) c.1056T= (p.Ala352=) c.534T= (p.Ala178=) n.331T= c.1098T= (p.Ala366=) c.61T= c.267T= (p.Ala89=) | |
| 12 | g.51916044G>A | CA384902007 | ACVRL1 | c.787G>A (p.Val263Met) c.1057G>A (p.Val353Met) c.535G>A (p.Val179Met) n.332G>A c.1099G>A (p.Val367Met) c.62G>A c.268G>A (p.Val90Met) | dbSNP |
| 12 | g.51916044G>C | CA384902009 | ACVRL1 | c.787G>C (p.Val263Leu) c.1057G>C (p.Val353Leu) c.535G>C (p.Val179Leu) n.332G>C c.1099G>C (p.Val367Leu) c.62G>C c.268G>C (p.Val90Leu) | |
| 12 | g.51916044G>T | CA384902011 | ACVRL1 | c.787G>T (p.Val263Leu) c.1057G>T (p.Val353Leu) c.535G>T (p.Val179Leu) n.332G>T c.1099G>T (p.Val367Leu) c.62G>T c.268G>T (p.Val90Leu) | COSMIC COSMIC |
| 12 | g.51916045T>A | CA384902015 | ACVRL1 | c.788T>A (p.Val263Glu) c.1058T>A (p.Val353Glu) c.536T>A (p.Val179Glu) n.333T>A c.1100T>A (p.Val367Glu) c.63T>A c.269T>A (p.Val90Glu) | |
| 12 | g.51916045T>C | CA384902016 | ACVRL1 | c.788T>C (p.Val263Ala) c.1058T>C (p.Val353Ala) c.536T>C (p.Val179Ala) n.333T>C c.1100T>C (p.Val367Ala) c.63T>C c.269T>C (p.Val90Ala) | |
| 12 | g.51916045T>G | CA384902017 | ACVRL1 | c.788T>G (p.Val263Gly) c.1058T>G (p.Val353Gly) c.536T>G (p.Val179Gly) n.333T>G c.1100T>G (p.Val367Gly) c.63T>G c.269T>G (p.Val90Gly) | |
| 12 | g.51916046G>A | CA479810000 | ACVRL1 | c.789G>A (p.Val263=) c.1059G>A (p.Val353=) c.537G>A (p.Val179=) n.334G>A c.1101G>A (p.Val367=) c.64G>A c.270G>A (p.Val90=) | COSMIC |
| 12 | g.51916046G>C | CA479810004 | ACVRL1 | c.789G>C (p.Val263=) c.1059G>C (p.Val353=) c.537G>C (p.Val179=) n.334G>C c.1101G>C (p.Val367=) c.64G>C c.270G>C (p.Val90=) | |
| 12 | g.51916046G>T | CA479810007 | ACVRL1 | c.789G>T (p.Val263=) c.1059G>T (p.Val353=) c.537G>T (p.Val179=) n.334G>T c.1101G>T (p.Val367=) c.64G>T c.270G>T (p.Val90=) | |
| 12 | g.51916049_51916067dup | CA2695216667 | ACVRL1 | c.792_810dup (p.Tyr271AlafsTer?) c.1062_1080dup (p.Tyr361AlafsTer?) c.540_558dup (p.Tyr187AlafsTer?) n.337_355dup c.1104_1122dup (p.Tyr375AlafsTer?) c.67_85dup c.273_291dup (p.Tyr98AlafsTer?) | |
| 12 | g.51916047A>C | CA384902019 | ACVRL1 | c.790A>C (p.Met264Leu) c.1060A>C (p.Met354Leu) c.538A>C (p.Met180Leu) n.335A>C c.1102A>C (p.Met368Leu) c.65A>C c.271A>C (p.Met91Leu) | |
| 12 | g.51916047A>G | CA384902023 | ACVRL1 | c.790A>G (p.Met264Val) c.1060A>G (p.Met354Val) c.538A>G (p.Met180Val) n.335A>G c.1102A>G (p.Met368Val) c.65A>G c.271A>G (p.Met91Val) | |
| 12 | g.51916047A>T | CA384902018 | ACVRL1 | c.790A>T (p.Met264Leu) c.1060A>T (p.Met354Leu) c.538A>T (p.Met180Leu) n.335A>T c.1102A>T (p.Met368Leu) c.65A>T c.271A>T (p.Met91Leu) | |
| 12 | g.51916048_51916055del | CA2695216669 | ACVRL1 | c.791_798del (p.Met264ThrfsTer?) c.1061_1068del (p.Met354ThrfsTer?) c.539_546del (p.Met180ThrfsTer?) n.336_343del c.1103_1110del (p.Met368ThrfsTer?) c.66_73del c.272_279del (p.Met91ThrfsTer?) | |
| 12 | g.51916048T>A | CA384902026 | ACVRL1 | c.791T>A (p.Met264Lys) c.1061T>A (p.Met354Lys) c.539T>A (p.Met180Lys) n.336T>A c.1103T>A (p.Met368Lys) c.66T>A c.272T>A (p.Met91Lys) | |
| 12 | g.51916048T>C | CA384902031 | ACVRL1 | c.791T>C (p.Met264Thr) c.1061T>C (p.Met354Thr) c.539T>C (p.Met180Thr) n.336T>C c.1103T>C (p.Met368Thr) c.66T>C c.272T>C (p.Met91Thr) |