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 |
|---|---|---|---|---|---|
| 11 | g.77156915_77156921delinsTACATCG | CA1984095902 | MYO7A | c.646_652delinsTACATCG (p.Tyr216=) c.613_619delinsTACATCG (p.Tyr205=) c.388_394delinsTACATCG (p.Tyr130=) n.966_972delinsTACATCG n.968_974delinsTACATCG c.736_742delinsTACATCG (p.Tyr246=) n.751_757delinsTACATCG | |
| 11 | g.77156916A>C | CA381932129 | MYO7A | c.647A>C (p.Tyr216Ser) c.614A>C (p.Tyr205Ser) c.389A>C (p.Tyr130Ser) n.967A>C n.969A>C c.737A>C (p.Tyr246Ser) n.752A>C | |
| 11 | g.77156916A>G | CA381932130 | MYO7A | c.647A>G (p.Tyr216Cys) c.614A>G (p.Tyr205Cys) c.389A>G (p.Tyr130Cys) n.967A>G n.969A>G c.737A>G (p.Tyr246Cys) n.752A>G | |
| 11 | g.77156916A>T | CA381932131 | MYO7A | c.647A>T (p.Tyr216Phe) c.614A>T (p.Tyr205Phe) c.389A>T (p.Tyr130Phe) n.967A>T n.969A>T c.737A>T (p.Tyr246Phe) n.752A>T | gnomAD v4 |
| 11 | g.77156921_77156926del | CA658656130 | MYO7A | c.652_657del (p.Asp218_Ile219del) c.619_624del (p.Asp207_Ile208del) c.394_399del (p.Asp132_Ile133del) n.972_977del n.974_979del c.742_747del (p.Asp248_Ile249del) n.757_762del | ClinVar dbSNP |
| 11 | g.77156917C>A | CA381932132 | MYO7A | c.648C>A (p.Tyr216Ter) c.615C>A (p.Tyr205Ter) c.390C>A (p.Tyr130Ter) n.968C>A n.970C>A c.738C>A (p.Tyr246Ter) n.753C>A | |
| 11 | g.77156917C>G | CA381932133 | MYO7A | c.648C>G (p.Tyr216Ter) c.615C>G (p.Tyr205Ter) c.390C>G (p.Tyr130Ter) n.968C>G n.970C>G c.738C>G (p.Tyr246Ter) n.753C>G | |
| 11 | g.77156917C>T | CA475886905 | MYO7A | c.648C>T (p.Tyr216=) c.615C>T (p.Tyr205=) c.390C>T (p.Tyr130=) n.968C>T n.970C>T c.738C>T (p.Tyr246=) n.753C>T | |
| 11 | g.77156918A= | CA1984095921 | MYO7A | c.649A= (p.Ile217=) c.616A= (p.Ile206=) c.391A= (p.Ile131=) n.969A= n.971A= c.739A= (p.Ile247=) n.754A= | |
| 11 | g.77156918A>C | CA381932134 | MYO7A | c.649A>C (p.Ile217Leu) c.616A>C (p.Ile206Leu) c.391A>C (p.Ile131Leu) n.969A>C n.971A>C c.739A>C (p.Ile247Leu) n.754A>C | gnomAD v4 |
| 11 | g.77156918A>G | CA381932136 | MYO7A | c.649A>G (p.Ile217Val) c.616A>G (p.Ile206Val) c.391A>G (p.Ile131Val) n.969A>G n.971A>G c.739A>G (p.Ile247Val) n.754A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.77156918A>T | CA381932135 | MYO7A | c.649A>T (p.Ile217Phe) c.616A>T (p.Ile206Phe) c.391A>T (p.Ile131Phe) n.969A>T n.971A>T c.739A>T (p.Ile247Phe) n.754A>T | |
| 11 | g.77156919T>A | CA381932137 | MYO7A | c.650T>A (p.Ile217Asn) c.617T>A (p.Ile206Asn) c.392T>A (p.Ile131Asn) n.970T>A n.972T>A c.740T>A (p.Ile247Asn) n.755T>A | |
| 11 | g.77156919T>C | CA381932138 | MYO7A | c.650T>C (p.Ile217Thr) c.617T>C (p.Ile206Thr) c.392T>C (p.Ile131Thr) n.970T>C n.972T>C c.740T>C (p.Ile247Thr) n.755T>C | |
| 11 | g.77156919T>G | CA381932139 | MYO7A | c.650T>G (p.Ile217Ser) c.617T>G (p.Ile206Ser) c.392T>G (p.Ile131Ser) n.970T>G n.972T>G c.740T>G (p.Ile247Ser) n.755T>G | |
| 11 | g.77156920C>A | CA475886910 | MYO7A | c.651C>A (p.Ile217=) c.618C>A (p.Ile206=) c.393C>A (p.Ile131=) n.971C>A n.973C>A c.741C>A (p.Ile247=) n.756C>A | |
| 11 | g.77156920C= | CA1984095925 | MYO7A | c.651C= (p.Ile217=) c.618C= (p.Ile206=) c.393C= (p.Ile131=) n.971C= n.973C= c.741C= (p.Ile247=) n.756C= | |
| 11 | g.77156920C>G | CA381932140 | MYO7A | c.651C>G (p.Ile217Met) c.618C>G (p.Ile206Met) c.393C>G (p.Ile131Met) n.971C>G n.973C>G c.741C>G (p.Ile247Met) n.756C>G | |
| 11 | g.77156920C>T | CA475886914 | MYO7A | c.651C>T (p.Ile217=) c.618C>T (p.Ile206=) c.393C>T (p.Ile131=) n.971C>T n.973C>T c.741C>T (p.Ile247=) n.756C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.77156921G>A | CA259686 | MYO7A | c.652G>A (p.Asp218Asn) c.619G>A (p.Asp207Asn) c.394G>A (p.Asp132Asn) n.972G>A n.974G>A c.742G>A (p.Asp248Asn) n.757G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.77156921G>C | CA381932143 | MYO7A | c.652G>C (p.Asp218His) c.619G>C (p.Asp207His) c.394G>C (p.Asp132His) n.972G>C n.974G>C c.742G>C (p.Asp248His) n.757G>C | ClinVar dbSNP |
| 11 | g.77156921G= | CA1984095930 | MYO7A | c.652G= (p.Asp218=) c.619G= (p.Asp207=) c.394G= (p.Asp132=) n.972G= n.974G= c.742G= (p.Asp248=) n.757G= | |
| 11 | g.77156921G>T | CA381932141 | MYO7A | c.652G>T (p.Asp218Tyr) c.619G>T (p.Asp207Tyr) c.394G>T (p.Asp132Tyr) n.972G>T n.974G>T c.742G>T (p.Asp248Tyr) n.757G>T | |
| 11 | g.77156921_77156927delinsGACATCC | CA1984095933 | MYO7A | c.652_658delinsGACATCC (p.Asp218=) c.619_625delinsGACATCC (p.Asp207=) c.394_400delinsGACATCC (p.Asp132=) n.972_978delinsGACATCC n.974_980delinsGACATCC c.742_748delinsGACATCC (p.Asp248=) n.757_763delinsGACATCC | |
| 11 | g.77156922A= | CA1984095947 | MYO7A | c.653A= (p.Asp218=) c.620A= (p.Asp207=) c.395A= (p.Asp132=) n.973A= n.975A= c.743A= (p.Asp248=) n.758A= | |
| 11 | g.77156922A>C | CA381932144 | MYO7A | c.653A>C (p.Asp218Ala) c.620A>C (p.Asp207Ala) c.395A>C (p.Asp132Ala) n.973A>C n.975A>C c.743A>C (p.Asp248Ala) n.758A>C | |
| 11 | g.77156922A>G | CA381932145 | MYO7A | c.653A>G (p.Asp218Gly) c.620A>G (p.Asp207Gly) c.395A>G (p.Asp132Gly) n.973A>G n.975A>G c.743A>G (p.Asp248Gly) n.758A>G | |
| 11 | g.77156922A>T | CA381932146 | MYO7A | c.653A>T (p.Asp218Val) c.620A>T (p.Asp207Val) c.395A>T (p.Asp132Val) n.973A>T n.975A>T c.743A>T (p.Asp248Val) n.758A>T | |
| 11 | g.77156924_77156929del | CA1139662103 | MYO7A | c.655_660del (p.Ile219_His220del) c.622_627del (p.Ile208_His209del) c.397_402del (p.Ile133_His134del) n.975_980del n.977_982del c.745_750del (p.Ile249_His250del) n.760_765del | ClinVar dbSNP gnomAD v4 |
| 11 | g.77156923C>A | CA381932147 | MYO7A | c.654C>A (p.Asp218Glu) c.621C>A (p.Asp207Glu) c.396C>A (p.Asp132Glu) n.974C>A n.976C>A c.744C>A (p.Asp248Glu) n.759C>A | |
| 11 | g.77156923C>G | CA381932148 | MYO7A | c.654C>G (p.Asp218Glu) c.621C>G (p.Asp207Glu) c.396C>G (p.Asp132Glu) n.974C>G n.976C>G c.744C>G (p.Asp248Glu) n.759C>G | |
| 11 | g.77156923C>T | CA475886923 | MYO7A | c.654C>T (p.Asp218=) c.621C>T (p.Asp207=) c.396C>T (p.Asp132=) n.974C>T n.976C>T c.744C>T (p.Asp248=) n.759C>T | |
| 11 | g.77156925_77156933dup | CA1984095952 | MYO7A | c.656_664dup (p.Phe221_Asn222insIleHisPhe) c.623_631dup (p.Phe210_Asn211insIleHisPhe) c.398_406dup (p.Phe135_Asn136insIleHisPhe) n.976_984dup n.978_986dup c.746_754dup (p.Phe251_Asn252insIleHisPhe) n.761_769dup | dbSNP |
| 11 | g.77156924A= | CA1984095956 | MYO7A | c.655A= (p.Ile219=) c.622A= (p.Ile208=) c.397A= (p.Ile133=) n.975A= n.977A= c.745A= (p.Ile249=) n.760A= | |
| 11 | g.77156924A>C | CA381932149 | MYO7A | c.655A>C (p.Ile219Leu) c.622A>C (p.Ile208Leu) c.397A>C (p.Ile133Leu) n.975A>C n.977A>C c.745A>C (p.Ile249Leu) n.760A>C | |
| 11 | g.77156924A>G | CA381932150 | MYO7A | c.655A>G (p.Ile219Val) c.622A>G (p.Ile208Val) c.397A>G (p.Ile133Val) n.975A>G n.977A>G c.745A>G (p.Ile249Val) n.760A>G | ClinVar dbSNP |
| 11 | g.77156924A>T | CA381932151 | MYO7A | c.655A>T (p.Ile219Phe) c.622A>T (p.Ile208Phe) c.397A>T (p.Ile133Phe) n.975A>T n.977A>T c.745A>T (p.Ile249Phe) n.760A>T | |
| 11 | g.77156925T>A | CA381932152 | MYO7A | c.656T>A (p.Ile219Asn) c.623T>A (p.Ile208Asn) c.398T>A (p.Ile133Asn) n.976T>A n.978T>A c.746T>A (p.Ile249Asn) n.761T>A | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.77156925T>C | CA381932153 | MYO7A | c.656T>C (p.Ile219Thr) c.623T>C (p.Ile208Thr) c.398T>C (p.Ile133Thr) n.976T>C n.978T>C c.746T>C (p.Ile249Thr) n.761T>C | |
| 11 | g.77156925T>G | CA381932154 | MYO7A | c.656T>G (p.Ile219Ser) c.623T>G (p.Ile208Ser) c.398T>G (p.Ile133Ser) n.976T>G n.978T>G c.746T>G (p.Ile249Ser) n.761T>G | |
| 11 | g.77156925T= | CA1984095960 | MYO7A | c.656T= (p.Ile219=) c.623T= (p.Ile208=) c.398T= (p.Ile133=) n.976T= n.978T= c.746T= (p.Ile249=) n.761T= | |
| 11 | g.77156926C>A | CA475886936 | MYO7A | c.657C>A (p.Ile219=) c.624C>A (p.Ile208=) c.399C>A (p.Ile133=) n.977C>A n.979C>A c.747C>A (p.Ile249=) n.762C>A | |
| 11 | g.77156926C>G | CA381932155 | MYO7A | c.657C>G (p.Ile219Met) c.624C>G (p.Ile208Met) c.399C>G (p.Ile133Met) n.977C>G n.979C>G c.747C>G (p.Ile249Met) n.762C>G | |
| 11 | g.77156926C>T | CA475886945 | MYO7A | c.657C>T (p.Ile219=) c.624C>T (p.Ile208=) c.399C>T (p.Ile133=) n.977C>T n.979C>T c.747C>T (p.Ile249=) n.762C>T | |
| 11 | g.77156927C>A | CA381932156 | MYO7A | c.658C>A (p.His220Asn) c.625C>A (p.His209Asn) c.400C>A (p.His134Asn) n.978C>A n.980C>A c.748C>A (p.His250Asn) n.763C>A | |
| 11 | g.77156927C= | CA1984095967 | MYO7A | c.658C= (p.His220=) c.625C= (p.His209=) c.400C= (p.His134=) n.978C= n.980C= c.748C= (p.His250=) n.763C= | |
| 11 | g.77156927C>G | CA381932157 | MYO7A | c.658C>G (p.His220Asp) c.625C>G (p.His209Asp) c.400C>G (p.His134Asp) n.978C>G n.980C>G c.748C>G (p.His250Asp) n.763C>G | |
| 11 | g.77156927C>T | CA6197207 | MYO7A | c.658C>T (p.His220Tyr) c.625C>T (p.His209Tyr) c.400C>T (p.His134Tyr) n.978C>T n.980C>T c.748C>T (p.His250Tyr) n.763C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.77156928A>C | CA381932158 | MYO7A | c.659A>C (p.His220Pro) c.626A>C (p.His209Pro) c.401A>C (p.His134Pro) n.979A>C n.981A>C c.749A>C (p.His250Pro) n.764A>C | gnomAD v4 |
| 11 | g.77156928A>G | CA381932159 | MYO7A | c.659A>G (p.His220Arg) c.626A>G (p.His209Arg) c.401A>G (p.His134Arg) n.979A>G n.981A>G c.749A>G (p.His250Arg) n.764A>G | ClinVar dbSNP gnomAD v4 |