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.51915443_51915496del | CA2695216750 | ACVRL1 | c.721_774del (p.Phe241_Asp258del) c.991_1044del (p.Phe331_Asp348del) c.469_522del (p.Phe157_Asp174del) c.1033_1086del (p.Phe345_Asp362del) c.202_255del (p.Phe68_Asp85del) | |
| 12 | g.51915473_51915494delinsAACCTGCAGTGTTGCATCGCCG | CA2036269548 | ACVRL1 | c.751_772delinsAACCTGCAGTGTTGCATCGCCG (p.Asn251=) c.1021_1042delinsAACCTGCAGTGTTGCATCGCCG (p.Asn341=) c.499_520delinsAACCTGCAGTGTTGCATCGCCG (p.Asn167=) c.1063_1084delinsAACCTGCAGTGTTGCATCGCCG (p.Asn355=) c.26_47delinsAACCTGCAGTGTTGCATCGCCG c.232_253delinsAACCTGCAGTGTTGCATCGCCG (p.Asn78=) | |
| 12 | g.51915479_51915499del | CA915948525 | ACVRL1 | c.757_777del (p.Gln253_Leu259del) c.1027_1047del (p.Gln343_Leu349del) c.505_525del (p.Gln169_Leu175del) c.1069_1089del (p.Gln357_Leu363del) c.32_52del c.238_258del (p.Gln80_Leu86del) | ClinVar dbSNP |
| 12 | g.51915477_51915514delinsTGCAGTGTTGCATCGCCGACCTGGGTGAGCCGGGCGGG | CA2036269551 | ACVRL1 | c.755_778+14delinsTGCAGTGTTGCATCGCCGACCTGGGTGAGCCGGGCGGG c.1025_1048+14delinsTGCAGTGTTGCATCGCCGACCTGGGTGAGCCGGGCGGG c.503_526+14delinsTGCAGTGTTGCATCGCCGACCTGGGTGAGCCGGGCGGG c.1067_1090+14delinsTGCAGTGTTGCATCGCCGACCTGGGTGAGCCGGGCGGG c.30_53+14delinsTGCAGTGTTGCATCGCCGACCTGGGTGAGCCGGGCGGG c.236_259+14delinsTGCAGTGTTGCATCGCCGACCTGGGTGAGCCGGGCGGG | |
| 12 | g.51915482_51915518del | CA916081669 | ACVRL1 | c.760_778+18del c.1030_1048+18del c.508_526+18del c.1072_1090+18del c.35_53+18del c.241_259+18del | ClinVar dbSNP |
| 12 | g.51915479C>A | CA384901714 | ACVRL1 | c.757C>A (p.Gln253Lys) c.1027C>A (p.Gln343Lys) c.505C>A (p.Gln169Lys) c.1069C>A (p.Gln357Lys) c.32C>A c.238C>A (p.Gln80Lys) | |
| 12 | g.51915479C= | CA2036269553 | ACVRL1 | c.757C= (p.Gln253=) c.1027C= (p.Gln343=) c.505C= (p.Gln169=) c.1069C= (p.Gln357=) c.32C= c.238C= (p.Gln80=) | |
| 12 | g.51915479C>G | CA384901718 | ACVRL1 | c.757C>G (p.Gln253Glu) c.1027C>G (p.Gln343Glu) c.505C>G (p.Gln169Glu) c.1069C>G (p.Gln357Glu) c.32C>G c.238C>G (p.Gln80Glu) | gnomAD v4 |
| 12 | g.51915479C>T | CA16619570 | ACVRL1 | c.757C>T (p.Gln253Ter) c.1027C>T (p.Gln343Ter) c.505C>T (p.Gln169Ter) c.1069C>T (p.Gln357Ter) c.32C>T c.238C>T (p.Gln80Ter) | ClinVar dbSNP |
| 12 | g.51915480A= | CA2036269554 | ACVRL1 | c.758A= (p.Gln253=) c.1028A= (p.Gln343=) c.506A= (p.Gln169=) c.1070A= (p.Gln357=) c.33A= c.239A= (p.Gln80=) | |
| 12 | g.51915480A>C | CA384901720 | ACVRL1 | c.758A>C (p.Gln253Pro) c.1028A>C (p.Gln343Pro) c.506A>C (p.Gln169Pro) c.1070A>C (p.Gln357Pro) c.33A>C c.239A>C (p.Gln80Pro) | ClinVar dbSNP |
| 12 | g.51915480A>G | CA384901721 | ACVRL1 | c.758A>G (p.Gln253Arg) c.1028A>G (p.Gln343Arg) c.506A>G (p.Gln169Arg) c.1070A>G (p.Gln357Arg) c.33A>G c.239A>G (p.Gln80Arg) | gnomAD v4 |
| 12 | g.51915480A>T | CA384901722 | ACVRL1 | c.758A>T (p.Gln253Leu) c.1028A>T (p.Gln343Leu) c.506A>T (p.Gln169Leu) c.1070A>T (p.Gln357Leu) c.33A>T c.239A>T (p.Gln80Leu) | |
| 12 | g.51915481G>A | CA480063299 | ACVRL1 | c.759G>A (p.Gln253=) c.1029G>A (p.Gln343=) c.507G>A (p.Gln169=) c.1071G>A (p.Gln357=) c.34G>A c.240G>A (p.Gln80=) | dbSNP gnomAD v2 |
| 12 | g.51915481G>C | CA384901724 | ACVRL1 | c.759G>C (p.Gln253His) c.1029G>C (p.Gln343His) c.507G>C (p.Gln169His) c.1071G>C (p.Gln357His) c.34G>C c.240G>C (p.Gln80His) | |
| 12 | g.51915481G= | CA2036236209 | ACVRL1 | c.759G= (p.Gln253=) c.1029G= (p.Gln343=) c.507G= (p.Gln169=) c.1071G= (p.Gln357=) c.34G= c.240G= (p.Gln80=) | |
| 12 | g.51915481G>T | CA384901725 | ACVRL1 | c.759G>T (p.Gln253His) c.1029G>T (p.Gln343His) c.507G>T (p.Gln169His) c.1071G>T (p.Gln357His) c.34G>T c.240G>T (p.Gln80His) | |
| 12 | g.51915483_51915484dup | CA323690 | ACVRL1 | c.761_762dup (p.Cys255ValfsTer10) c.1031_1032dup (p.Cys345ValfsTer10) c.509_510dup (p.Cys171ValfsTer10) c.1073_1074dup (p.Cys359ValfsTer10) c.36_37dup c.242_243dup (p.Cys82ValfsTer10) | ClinVar dbSNP |
| 12 | g.51915482T>A | CA384901733 | ACVRL1 | c.760T>A (p.Cys254Ser) c.1030T>A (p.Cys344Ser) c.508T>A (p.Cys170Ser) c.1072T>A (p.Cys358Ser) c.35T>A c.241T>A (p.Cys81Ser) | |
| 12 | g.51915482T>C | CA384901730 | ACVRL1 | c.760T>C (p.Cys254Arg) c.1030T>C (p.Cys344Arg) c.508T>C (p.Cys170Arg) c.1072T>C (p.Cys358Arg) c.35T>C c.241T>C (p.Cys81Arg) | ClinVar dbSNP |
| 12 | g.51915482T>G | CA384901736 | ACVRL1 | c.760T>G (p.Cys254Gly) c.1030T>G (p.Cys344Gly) c.508T>G (p.Cys170Gly) c.1072T>G (p.Cys358Gly) c.35T>G c.241T>G (p.Cys81Gly) | |
| 12 | g.51915482T= | CA2036236221 | ACVRL1 | c.760T= (p.Cys254=) c.1030T= (p.Cys344=) c.508T= (p.Cys170=) c.1072T= (p.Cys358=) c.35T= c.241T= (p.Cys81=) | |
| 12 | g.51915483G>A | CA119408 | ACVRL1 | c.761G>A (p.Cys254Tyr) c.1031G>A (p.Cys344Tyr) c.509G>A (p.Cys170Tyr) c.1073G>A (p.Cys358Tyr) c.36G>A c.242G>A (p.Cys81Tyr) | ClinVar dbSNP gnomAD v4 |
| 12 | g.51915483G>C | CA384901739 | ACVRL1 | c.761G>C (p.Cys254Ser) c.1031G>C (p.Cys344Ser) c.509G>C (p.Cys170Ser) c.1073G>C (p.Cys358Ser) c.36G>C c.242G>C (p.Cys81Ser) | |
| 12 | g.51915483G= | CA2036236234 | ACVRL1 | c.761G= (p.Cys254=) c.1031G= (p.Cys344=) c.509G= (p.Cys170=) c.1073G= (p.Cys358=) c.36G= c.242G= (p.Cys81=) | |
| 12 | g.51915483G>T | CA384901742 | ACVRL1 | c.761G>T (p.Cys254Phe) c.1031G>T (p.Cys344Phe) c.509G>T (p.Cys170Phe) c.1073G>T (p.Cys358Phe) c.36G>T c.242G>T (p.Cys81Phe) | ClinVar dbSNP |
| 12 | g.51915484T>A | CA384901744 | ACVRL1 | c.762T>A (p.Cys254Ter) c.1032T>A (p.Cys344Ter) c.510T>A (p.Cys170Ter) c.1074T>A (p.Cys358Ter) c.37T>A c.243T>A (p.Cys81Ter) | ClinVar dbSNP |
| 12 | g.51915484T>C | CA6573036 | ACVRL1 | c.762T>C (p.Cys254=) c.1032T>C (p.Cys344=) c.510T>C (p.Cys170=) c.1074T>C (p.Cys358=) c.37T>C c.243T>C (p.Cys81=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.51915484T>G | CA384901745 | ACVRL1 | c.762T>G (p.Cys254Trp) c.1032T>G (p.Cys344Trp) c.510T>G (p.Cys170Trp) c.1074T>G (p.Cys358Trp) c.37T>G c.243T>G (p.Cys81Trp) | |
| 12 | g.51915484T= | CA2036236238 | ACVRL1 | c.762T= (p.Cys254=) c.1032T= (p.Cys344=) c.510T= (p.Cys170=) c.1074T= (p.Cys358=) c.37T= c.243T= (p.Cys81=) | |
| 12 | g.51915485T>A | CA384901748 | ACVRL1 | c.763T>A (p.Cys255Ser) c.1033T>A (p.Cys345Ser) c.511T>A (p.Cys171Ser) c.1075T>A (p.Cys359Ser) c.38T>A c.244T>A (p.Cys82Ser) | |
| 12 | g.51915485T>C | CA16613827 | ACVRL1 | c.763T>C (p.Cys255Arg) c.1033T>C (p.Cys345Arg) c.511T>C (p.Cys171Arg) c.1075T>C (p.Cys359Arg) c.38T>C c.244T>C (p.Cys82Arg) | ClinVar dbSNP |
| 12 | g.51915485T>G | CA384901746 | ACVRL1 | c.763T>G (p.Cys255Gly) c.1033T>G (p.Cys345Gly) c.511T>G (p.Cys171Gly) c.1075T>G (p.Cys359Gly) c.38T>G c.244T>G (p.Cys82Gly) | |
| 12 | g.51915485T= | CA2036236244 | ACVRL1 | c.763T= (p.Cys255=) c.1033T= (p.Cys345=) c.511T= (p.Cys171=) c.1075T= (p.Cys359=) c.38T= c.244T= (p.Cys82=) | |
| 12 | g.51915485_51915490delinsTGCATC | CA2036236246 | ACVRL1 | c.763_768delinsTGCATC (p.Cys255=) c.1033_1038delinsTGCATC (p.Cys345=) c.511_516delinsTGCATC (p.Cys171=) c.1075_1080delinsTGCATC (p.Cys359=) c.38_43delinsTGCATC c.244_249delinsTGCATC (p.Cys82=) | |
| 12 | g.51915486G>A | CA384901750 | ACVRL1 | c.764G>A (p.Cys255Tyr) c.1034G>A (p.Cys345Tyr) c.512G>A (p.Cys171Tyr) c.1076G>A (p.Cys359Tyr) c.39G>A c.245G>A (p.Cys82Tyr) | ClinVar dbSNP gnomAD v4 |
| 12 | g.51915486G>C | CA384901756 | ACVRL1 | c.764G>C (p.Cys255Ser) c.1034G>C (p.Cys345Ser) c.512G>C (p.Cys171Ser) c.1076G>C (p.Cys359Ser) c.39G>C c.245G>C (p.Cys82Ser) | gnomAD v4 |
| 12 | g.51915486G= | CA2036236247 | ACVRL1 | c.764G= (p.Cys255=) c.1034G= (p.Cys345=) c.512G= (p.Cys171=) c.1076G= (p.Cys359=) c.39G= c.245G= (p.Cys82=) | |
| 12 | g.51915486G>T | CA384901758 | ACVRL1 | c.764G>T (p.Cys255Phe) c.1034G>T (p.Cys345Phe) c.512G>T (p.Cys171Phe) c.1076G>T (p.Cys359Phe) c.39G>T c.245G>T (p.Cys82Phe) | |
| 12 | g.51915488_51915492del | CA891843495 | ACVRL1 | c.766_770del (p.Ile256ArgfsTer?) c.1036_1040del (p.Ile346ArgfsTer?) c.514_518del (p.Ile172ArgfsTer?) c.1078_1082del (p.Ile360ArgfsTer?) c.41_45del c.247_251del (p.Ile83ArgfsTer?) | ClinVar dbSNP |
| 12 | g.51915487C>A | CA384901766 | ACVRL1 | c.765C>A (p.Cys255Ter) c.1035C>A (p.Cys345Ter) c.513C>A (p.Cys171Ter) c.1077C>A (p.Cys359Ter) c.40C>A c.246C>A (p.Cys82Ter) | ClinVar |
| 12 | g.51915487C>G | CA384901770 | ACVRL1 | c.765C>G (p.Cys255Trp) c.1035C>G (p.Cys345Trp) c.513C>G (p.Cys171Trp) c.1077C>G (p.Cys359Trp) c.40C>G c.246C>G (p.Cys82Trp) | |
| 12 | g.51915487C>T | CA480063300 | ACVRL1 | c.765C>T (p.Cys255=) c.1035C>T (p.Cys345=) c.513C>T (p.Cys171=) c.1077C>T (p.Cys359=) c.40C>T c.246C>T (p.Cys82=) | gnomAD v4 |
| 12 | g.51915488_51915507dup | CA689766504 | ACVRL1 | c.766_778+7dup c.1036_1048+7dup c.514_526+7dup c.1078_1090+7dup c.41_53+7dup c.247_259+7dup | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51915488A>C | CA384901773 | ACVRL1 | c.766A>C (p.Ile256Leu) c.1036A>C (p.Ile346Leu) c.514A>C (p.Ile172Leu) c.1078A>C (p.Ile360Leu) c.41A>C c.247A>C (p.Ile83Leu) | gnomAD v4 |
| 12 | g.51915488A>G | CA384901779 | ACVRL1 | c.766A>G (p.Ile256Val) c.1036A>G (p.Ile346Val) c.514A>G (p.Ile172Val) c.1078A>G (p.Ile360Val) c.41A>G c.247A>G (p.Ile83Val) | COSMIC COSMIC |
| 12 | g.51915488A>T | CA384901776 | ACVRL1 | c.766A>T (p.Ile256Phe) c.1036A>T (p.Ile346Phe) c.514A>T (p.Ile172Phe) c.1078A>T (p.Ile360Phe) c.41A>T c.247A>T (p.Ile83Phe) | ClinVar |
| 12 | g.51915488_51915491delinsATCG | CA2036236254 | ACVRL1 | c.766_769delinsATCG (p.Ile256=) c.1036_1039delinsATCG (p.Ile346=) c.514_517delinsATCG (p.Ile172=) c.1078_1081delinsATCG (p.Ile360=) c.41_44delinsATCG c.247_250delinsATCG (p.Ile83=) | |
| 12 | g.51915489T>A | CA384901783 | ACVRL1 | c.767T>A (p.Ile256Asn) c.1037T>A (p.Ile346Asn) c.515T>A (p.Ile172Asn) c.1079T>A (p.Ile360Asn) c.42T>A c.248T>A (p.Ile83Asn) | |
| 12 | g.51915489T>C | CA384901786 | ACVRL1 | c.767T>C (p.Ile256Thr) c.1037T>C (p.Ile346Thr) c.515T>C (p.Ile172Thr) c.1079T>C (p.Ile360Thr) c.42T>C c.248T>C (p.Ile83Thr) |