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.51920817_51920821dup | CA2695199089 | ACVRL1 | c.1166_1170dup (p.Thr391AspfsTer23) c.1436_1440dup (p.Thr481AspfsTer23) c.914_918dup (p.Thr307AspfsTer23) c.1478_1482dup (p.Thr495AspfsTer23) c.647_651dup (p.Thr218AspfsTer23) | ClinVar |
| 12 | g.51920820T>A | CA384905709 | ACVRL1 | c.1169T>A (p.Leu390His) c.1439T>A (p.Leu480His) c.917T>A (p.Leu306His) c.1481T>A (p.Leu494His) c.650T>A (p.Leu217His) | |
| 12 | g.51920820T>C | CA384905710 | ACVRL1 | c.1169T>C (p.Leu390Pro) c.1439T>C (p.Leu480Pro) c.917T>C (p.Leu306Pro) c.1481T>C (p.Leu494Pro) c.650T>C (p.Leu217Pro) | |
| 12 | g.51920820T>G | CA384905711 | ACVRL1 | c.1169T>G (p.Leu390Arg) c.1439T>G (p.Leu480Arg) c.917T>G (p.Leu306Arg) c.1481T>G (p.Leu494Arg) c.650T>G (p.Leu217Arg) | |
| 12 | g.51920820_51920887del | CA2695216730 | ACVRL1 | c.1169_1236del (p.Leu390ProfsTer?) c.1439_1506del (p.Leu480ProfsTer?) c.917_984del (p.Leu306ProfsTer?) c.1481_1548del (p.Leu494ProfsTer?) c.650_717del (p.Leu217ProfsTer?) | |
| 12 | g.51920821C>A | CA479816728 | ACVRL1 | c.1170C>A (p.Leu390=) c.1440C>A (p.Leu480=) c.918C>A (p.Leu306=) c.1482C>A (p.Leu494=) c.651C>A (p.Leu217=) | |
| 12 | g.51920821C= | CA2036241835 | ACVRL1 | c.1170C= (p.Leu390=) c.1440C= (p.Leu480=) c.918C= (p.Leu306=) c.1482C= (p.Leu494=) c.651C= (p.Leu217=) | |
| 12 | g.51920821C>G | CA479816734 | ACVRL1 | c.1170C>G (p.Leu390=) c.1440C>G (p.Leu480=) c.918C>G (p.Leu306=) c.1482C>G (p.Leu494=) c.651C>G (p.Leu217=) | |
| 12 | g.51920821C>T | CA236367754 | ACVRL1 | c.1170C>T (p.Leu390=) c.1440C>T (p.Leu480=) c.918C>T (p.Leu306=) c.1482C>T (p.Leu494=) c.651C>T (p.Leu217=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51920822A>C | CA384905712 | ACVRL1 | c.1171A>C (p.Thr391Pro) c.1441A>C (p.Thr481Pro) c.919A>C (p.Thr307Pro) c.1483A>C (p.Thr495Pro) c.652A>C (p.Thr218Pro) | |
| 12 | g.51920822A>G | CA384905713 | ACVRL1 | c.1171A>G (p.Thr391Ala) c.1441A>G (p.Thr481Ala) c.919A>G (p.Thr307Ala) c.1483A>G (p.Thr495Ala) c.652A>G (p.Thr218Ala) | |
| 12 | g.51920822A>T | CA384905722 | ACVRL1 | c.1171A>T (p.Thr391Ser) c.1441A>T (p.Thr481Ser) c.919A>T (p.Thr307Ser) c.1483A>T (p.Thr495Ser) c.652A>T (p.Thr218Ser) | |
| 12 | g.51920823C>A | CA384905725 | ACVRL1 | c.1172C>A (p.Thr391Asn) c.1442C>A (p.Thr481Asn) c.920C>A (p.Thr307Asn) c.1484C>A (p.Thr495Asn) c.653C>A (p.Thr218Asn) | |
| 12 | g.51920823C>G | CA384905727 | ACVRL1 | c.1172C>G (p.Thr391Ser) c.1442C>G (p.Thr481Ser) c.920C>G (p.Thr307Ser) c.1484C>G (p.Thr495Ser) c.653C>G (p.Thr218Ser) | |
| 12 | g.51920823C>T | CA384905729 | ACVRL1 | c.1172C>T (p.Thr391Ile) c.1442C>T (p.Thr481Ile) c.920C>T (p.Thr307Ile) c.1484C>T (p.Thr495Ile) c.653C>T (p.Thr218Ile) | ClinVar |
| 12 | g.51920824C>A | CA479816784 | ACVRL1 | c.1173C>A (p.Thr391=) c.1443C>A (p.Thr481=) c.921C>A (p.Thr307=) c.1485C>A (p.Thr495=) c.654C>A (p.Thr218=) | |
| 12 | g.51920824C= | CA2036241840 | ACVRL1 | c.1173C= (p.Thr391=) c.1443C= (p.Thr481=) c.921C= (p.Thr307=) c.1485C= (p.Thr495=) c.654C= (p.Thr218=) | |
| 12 | g.51920824C>G | CA479816780 | ACVRL1 | c.1173C>G (p.Thr391=) c.1443C>G (p.Thr481=) c.921C>G (p.Thr307=) c.1485C>G (p.Thr495=) c.654C>G (p.Thr218=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51920824C>T | CA479816777 | ACVRL1 | c.1173C>T (p.Thr391=) c.1443C>T (p.Thr481=) c.921C>T (p.Thr307=) c.1485C>T (p.Thr495=) c.654C>T (p.Thr218=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51920825G>A | CA6573177 | ACVRL1 | c.1174G>A (p.Ala392Thr) c.1444G>A (p.Ala482Thr) c.922G>A (p.Ala308Thr) c.1486G>A (p.Ala496Thr) c.655G>A (p.Ala219Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51920825G>C | CA384905733 | ACVRL1 | c.1174G>C (p.Ala392Pro) c.1444G>C (p.Ala482Pro) c.922G>C (p.Ala308Pro) c.1486G>C (p.Ala496Pro) c.655G>C (p.Ala219Pro) | ClinVar |
| 12 | g.51920825G= | CA2036241844 | ACVRL1 | c.1174G= (p.Ala392=) c.1444G= (p.Ala482=) c.922G= (p.Ala308=) c.1486G= (p.Ala496=) c.655G= (p.Ala219=) | |
| 12 | g.51920825G>T | CA384905738 | ACVRL1 | c.1174G>T (p.Ala392Ser) c.1444G>T (p.Ala482Ser) c.922G>T (p.Ala308Ser) c.1486G>T (p.Ala496Ser) c.655G>T (p.Ala219Ser) | |
| 12 | g.51920826C>A | CA384905746 | ACVRL1 | c.1175C>A (p.Ala392Glu) c.1445C>A (p.Ala482Glu) c.923C>A (p.Ala308Glu) c.1487C>A (p.Ala496Glu) c.656C>A (p.Ala219Glu) | ClinVar |
| 12 | g.51920826C= | CA2036241849 | ACVRL1 | c.1175C= (p.Ala392=) c.1445C= (p.Ala482=) c.923C= (p.Ala308=) c.1487C= (p.Ala496=) c.656C= (p.Ala219=) | |
| 12 | g.51920826C>G | CA384905751 | ACVRL1 | c.1175C>G (p.Ala392Gly) c.1445C>G (p.Ala482Gly) c.923C>G (p.Ala308Gly) c.1487C>G (p.Ala496Gly) c.656C>G (p.Ala219Gly) | |
| 12 | g.51920826C>T | CA211324 | ACVRL1 | c.1175C>T (p.Ala392Val) c.1445C>T (p.Ala482Val) c.923C>T (p.Ala308Val) c.1487C>T (p.Ala496Val) c.656C>T (p.Ala219Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51920827G>A | CA236367761 | ACVRL1 | c.1176G>A (p.Ala392=) c.1446G>A (p.Ala482=) c.924G>A (p.Ala308=) c.1488G>A (p.Ala496=) c.657G>A (p.Ala219=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51920827G>C | CA479816815 | ACVRL1 | c.1176G>C (p.Ala392=) c.1446G>C (p.Ala482=) c.924G>C (p.Ala308=) c.1488G>C (p.Ala496=) c.657G>C (p.Ala219=) | |
| 12 | g.51920827G= | CA2036241858 | ACVRL1 | c.1176G= (p.Ala392=) c.1446G= (p.Ala482=) c.924G= (p.Ala308=) c.1488G= (p.Ala496=) c.657G= (p.Ala219=) | |
| 12 | g.51920827G>T | CA479816819 | ACVRL1 | c.1176G>T (p.Ala392=) c.1446G>T (p.Ala482=) c.924G>T (p.Ala308=) c.1488G>T (p.Ala496=) c.657G>T (p.Ala219=) | gnomAD v4 |
| 12 | g.51920828C>A | CA384905760 | ACVRL1 | c.1177C>A (p.Leu393Met) c.1447C>A (p.Leu483Met) c.925C>A (p.Leu309Met) c.1489C>A (p.Leu497Met) c.658C>A (p.Leu220Met) | |
| 12 | g.51920828C>G | CA384905770 | ACVRL1 | c.1177C>G (p.Leu393Val) c.1447C>G (p.Leu483Val) c.925C>G (p.Leu309Val) c.1489C>G (p.Leu497Val) c.658C>G (p.Leu220Val) | |
| 12 | g.51920828C>T | CA479816825 | ACVRL1 | c.1177C>T (p.Leu393=) c.1447C>T (p.Leu483=) c.925C>T (p.Leu309=) c.1489C>T (p.Leu497=) c.658C>T (p.Leu220=) | |
| 12 | g.51920828_51920829delinsCT | CA2036241867 | ACVRL1 | c.1177_1178delinsCT (p.Leu393=) c.1447_1448delinsCT (p.Leu483=) c.925_926delinsCT (p.Leu309=) c.1489_1490delinsCT (p.Leu497=) c.658_659delinsCT (p.Leu220=) | |
| 12 | g.51920829del | CA1139662711 | ACVRL1 | c.1178del (p.Leu393ArgfsTer19) c.1448del (p.Leu483ArgfsTer19) c.926del (p.Leu309ArgfsTer19) c.1490del (p.Leu497ArgfsTer19) c.659del (p.Leu220ArgfsTer19) | ClinVar dbSNP |
| 12 | g.51920829T>A | CA384905774 | ACVRL1 | c.1178T>A (p.Leu393Gln) c.1448T>A (p.Leu483Gln) c.926T>A (p.Leu309Gln) c.1490T>A (p.Leu497Gln) c.659T>A (p.Leu220Gln) | |
| 12 | g.51920829T>C | CA384905784 | ACVRL1 | c.1178T>C (p.Leu393Pro) c.1448T>C (p.Leu483Pro) c.926T>C (p.Leu309Pro) c.1490T>C (p.Leu497Pro) c.659T>C (p.Leu220Pro) | |
| 12 | g.51920829T>G | CA384905789 | ACVRL1 | c.1178T>G (p.Leu393Arg) c.1448T>G (p.Leu483Arg) c.926T>G (p.Leu309Arg) c.1490T>G (p.Leu497Arg) c.659T>G (p.Leu220Arg) | ClinVar dbSNP |
| 12 | g.51920829T= | CA2036241874 | ACVRL1 | c.1178T= (p.Leu393=) c.1448T= (p.Leu483=) c.926T= (p.Leu309=) c.1490T= (p.Leu497=) c.659T= (p.Leu220=) | |
| 12 | g.51920830G>A | CA479816836 | ACVRL1 | c.1179G>A (p.Leu393=) c.1449G>A (p.Leu483=) c.927G>A (p.Leu309=) c.1491G>A (p.Leu497=) c.660G>A (p.Leu220=) | |
| 12 | g.51920830G>C | CA479816858 | ACVRL1 | c.1179G>C (p.Leu393=) c.1449G>C (p.Leu483=) c.927G>C (p.Leu309=) c.1491G>C (p.Leu497=) c.660G>C (p.Leu220=) | gnomAD v4 |
| 12 | g.51920830G>T | CA479816851 | ACVRL1 | c.1179G>T (p.Leu393=) c.1449G>T (p.Leu483=) c.927G>T (p.Leu309=) c.1491G>T (p.Leu497=) c.660G>T (p.Leu220=) | |
| 12 | g.51920830_51920831delinsGC | CA2036241879 | ACVRL1 | c.1179_1180delinsGC (p.Leu393=) c.1449_1450delinsGC (p.Leu483=) c.927_928delinsGC (p.Leu309=) c.1491_1492delinsGC (p.Leu497=) c.660_661delinsGC (p.Leu220=) | |
| 12 | g.51920831_51920833dup | CA2695216732 | ACVRL1 | c.1180_1182dup (p.Arg394_Ile395insArg) c.1450_1452dup (p.Arg484_Ile485insArg) c.928_930dup (p.Arg310_Ile311insArg) c.1492_1494dup (p.Arg498_Ile499insArg) c.661_663dup (p.Arg221_Ile222insArg) | |
| 12 | g.51920831C>A | CA479816861 | ACVRL1 | c.1180C>A (p.Arg394=) c.1450C>A (p.Arg484=) c.928C>A (p.Arg310=) c.1492C>A (p.Arg498=) c.661C>A (p.Arg221=) | ClinVar dbSNP gnomAD v4 |
| 12 | g.51920831C= | CA2036241893 | ACVRL1 | c.1180C= (p.Arg394=) c.1450C= (p.Arg484=) c.928C= (p.Arg310=) c.1492C= (p.Arg498=) c.661C= (p.Arg221=) | |
| 12 | g.51920831C>G | CA384905800 | ACVRL1 | c.1180C>G (p.Arg394Gly) c.1450C>G (p.Arg484Gly) c.928C>G (p.Arg310Gly) c.1492C>G (p.Arg498Gly) c.661C>G (p.Arg221Gly) | ClinVar dbSNP |
| 12 | g.51920831C>T | CA119404 | ACVRL1 | c.1180C>T (p.Arg394Trp) c.1450C>T (p.Arg484Trp) c.928C>T (p.Arg310Trp) c.1492C>T (p.Arg498Trp) c.661C>T (p.Arg221Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51920831delinsTG | CA645294072 | ACVRL1 | c.1180delinsTG (p.Arg394TrpfsTer10) c.1450delinsTG (p.Arg484TrpfsTer10) c.928delinsTG (p.Arg310TrpfsTer10) c.1492delinsTG (p.Arg498TrpfsTer10) c.661delinsTG (p.Arg221TrpfsTer10) | ClinVar dbSNP |