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 |
|---|---|---|---|---|---|
| 4 | g.1001535C>A | CA355961775 | IDUA | c.561C>A (p.Asp187Glu) n.617C>A c.420C>A (p.Asp140Glu) c.521C>A c.354C>A (p.Asp118Glu) c.378C>A (p.Asp126Glu) c.165C>A (p.Asp55Glu) n.461C>A n.649C>A c.273C>A (p.Asp91Glu) n.630C>A c.-428C>A (n.-428C>A) | |
| 4 | g.1001535C= | CA1433067436 | IDUA | c.561C= (p.Asp187=) n.617C= c.420C= (p.Asp140=) c.521C= c.354C= (p.Asp118=) c.378C= (p.Asp126=) c.165C= (p.Asp55=) n.461C= n.649C= c.273C= (p.Asp91=) n.630C= c.-428C= (n.-428C=) | |
| 4 | g.1001535C>G | CA355961774 | IDUA | c.561C>G (p.Asp187Glu) n.617C>G c.420C>G (p.Asp140Glu) c.521C>G c.354C>G (p.Asp118Glu) c.378C>G (p.Asp126Glu) c.165C>G (p.Asp55Glu) n.461C>G n.649C>G c.273C>G (p.Asp91Glu) n.630C>G c.-428C>G (n.-428C>G) | |
| 4 | g.1001535C>T | CA2801993 | IDUA | c.561C>T (p.Asp187=) n.617C>T c.420C>T (p.Asp140=) c.521C>T c.354C>T (p.Asp118=) c.378C>T (p.Asp126=) c.165C>T (p.Asp55=) n.461C>T n.649C>T c.273C>T (p.Asp91=) n.630C>T c.-428C>T (n.-428C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.1001536T>A | CA355961776 | IDUA | c.562T>A (p.Phe188Ile) n.618T>A c.421T>A (p.Phe141Ile) c.522T>A c.355T>A (p.Phe119Ile) c.379T>A (p.Phe127Ile) c.166T>A (p.Phe56Ile) n.462T>A n.650T>A c.274T>A (p.Phe92Ile) n.631T>A c.-427T>A (n.-427T>A) | |
| 4 | g.1001536T>C | CA355961777 | IDUA | c.562T>C (p.Phe188Leu) n.618T>C c.421T>C (p.Phe141Leu) c.522T>C c.355T>C (p.Phe119Leu) c.379T>C (p.Phe127Leu) c.166T>C (p.Phe56Leu) n.462T>C n.650T>C c.274T>C (p.Phe92Leu) n.631T>C c.-427T>C (n.-427T>C) | |
| 4 | g.1001536T>G | CA355961778 | IDUA | c.562T>G (p.Phe188Val) n.618T>G c.421T>G (p.Phe141Val) c.522T>G c.355T>G (p.Phe119Val) c.379T>G (p.Phe127Val) c.166T>G (p.Phe56Val) n.462T>G n.650T>G c.274T>G (p.Phe92Val) n.631T>G c.-427T>G (n.-427T>G) | |
| 4 | g.1001537T>A | CA355961779 | IDUA | c.563T>A (p.Phe188Tyr) n.619T>A c.422T>A (p.Phe141Tyr) c.523T>A c.356T>A (p.Phe119Tyr) c.380T>A (p.Phe127Tyr) c.167T>A (p.Phe56Tyr) n.463T>A n.651T>A c.275T>A (p.Phe92Tyr) n.632T>A c.-426T>A (n.-426T>A) | |
| 4 | g.1001537T>C | CA355961780 | IDUA | c.563T>C (p.Phe188Ser) n.619T>C c.422T>C (p.Phe141Ser) c.523T>C c.356T>C (p.Phe119Ser) c.380T>C (p.Phe127Ser) c.167T>C (p.Phe56Ser) n.463T>C n.651T>C c.275T>C (p.Phe92Ser) n.632T>C c.-426T>C (n.-426T>C) | |
| 4 | g.1001537T>G | CA355961781 | IDUA | c.563T>G (p.Phe188Cys) n.619T>G c.422T>G (p.Phe141Cys) c.523T>G c.356T>G (p.Phe119Cys) c.380T>G (p.Phe127Cys) c.167T>G (p.Phe56Cys) n.463T>G n.651T>G c.275T>G (p.Phe92Cys) n.632T>G c.-426T>G (n.-426T>G) | dbSNP |
| 4 | g.1001537T= | CA1433067440 | IDUA | c.563T= (p.Phe188=) n.619T= c.422T= (p.Phe141=) c.523T= c.356T= (p.Phe119=) c.380T= (p.Phe127=) c.167T= (p.Phe56=) n.463T= n.651T= c.275T= (p.Phe92=) n.632T= c.-426T= (n.-426T=) | |
| 4 | g.1001537_1001551delinsTTGACAACGTCTCCA | CA1433067439 | IDUA | c.563_577delinsTTGACAACGTCTCCA (p.Phe188=) n.619_633delinsTTGACAACGTCTCCA c.422_436delinsTTGACAACGTCTCCA (p.Phe141=) c.523_537delinsTTGACAACGTCTCCA c.356_370delinsTTGACAACGTCTCCA (p.Phe119=) c.380_394delinsTTGACAACGTCTCCA (p.Phe127=) c.167_181delinsTTGACAACGTCTCCA (p.Phe56=) n.463_477delinsTTGACAACGTCTCCA n.651_665delinsTTGACAACGTCTCCA c.275_289delinsTTGACAACGTCTCCA (p.Phe92=) n.632_646delinsTTGACAACGTCTCCA c.-426_-412delinsTTGACAACGTCTCCA (n.-426_-412delinsTTGACAACGTCTCCA) | |
| 4 | g.1001538T>A | CA355961782 | IDUA | c.564T>A (p.Phe188Leu) n.620T>A c.423T>A (p.Phe141Leu) c.524T>A c.357T>A (p.Phe119Leu) c.381T>A (p.Phe127Leu) c.168T>A (p.Phe56Leu) n.464T>A n.652T>A c.276T>A (p.Phe92Leu) n.633T>A c.-425T>A (n.-425T>A) | |
| 4 | g.1001538T>C | CA437918923 | IDUA | c.564T>C (p.Phe188=) n.620T>C c.423T>C (p.Phe141=) c.524T>C c.357T>C (p.Phe119=) c.381T>C (p.Phe127=) c.168T>C (p.Phe56=) n.464T>C n.652T>C c.276T>C (p.Phe92=) n.633T>C c.-425T>C (n.-425T>C) | |
| 4 | g.1001538T>G | CA355961783 | IDUA | c.564T>G (p.Phe188Leu) n.620T>G c.423T>G (p.Phe141Leu) c.524T>G c.357T>G (p.Phe119Leu) c.381T>G (p.Phe127Leu) c.168T>G (p.Phe56Leu) n.464T>G n.652T>G c.276T>G (p.Phe92Leu) n.633T>G c.-425T>G (n.-425T>G) | |
| 4 | g.1001542_1001555del | CA2801994 | IDUA | c.568_581del (p.Asn190HisfsTer?) n.624_637del c.427_440del (p.Asn143HisfsTer?) c.528_541del c.361_374del (p.Asn121HisfsTer?) c.385_398del (p.Asn129HisfsTer?) c.172_185del (p.Asn58HisfsTer?) n.468_481del n.656_669del c.280_293del (p.Asn94HisfsTer?) n.637_650del c.-421_-408del (n.-421_-408del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.1001539G>A | CA355961784 | IDUA | c.565G>A (p.Asp189Asn) n.621G>A c.424G>A (p.Asp142Asn) c.525G>A c.358G>A (p.Asp120Asn) c.382G>A (p.Asp128Asn) c.169G>A (p.Asp57Asn) n.465G>A n.653G>A c.277G>A (p.Asp93Asn) n.634G>A c.-424G>A (n.-424G>A) | |
| 4 | g.1001539G>C | CA355961785 | IDUA | c.565G>C (p.Asp189His) n.621G>C c.424G>C (p.Asp142His) c.525G>C c.358G>C (p.Asp120His) c.382G>C (p.Asp128His) c.169G>C (p.Asp57His) n.465G>C n.653G>C c.277G>C (p.Asp93His) n.634G>C c.-424G>C (n.-424G>C) | COSMIC COSMIC |
| 4 | g.1001539G>T | CA355961786 | IDUA | c.565G>T (p.Asp189Tyr) n.621G>T c.424G>T (p.Asp142Tyr) c.525G>T c.358G>T (p.Asp120Tyr) c.382G>T (p.Asp128Tyr) c.169G>T (p.Asp57Tyr) n.465G>T n.653G>T c.277G>T (p.Asp93Tyr) n.634G>T c.-424G>T (n.-424G>T) | gnomAD v4 |
| 4 | g.1001540A>C | CA355961788 | IDUA | c.566A>C (p.Asp189Ala) n.622A>C c.425A>C (p.Asp142Ala) c.526A>C c.359A>C (p.Asp120Ala) c.383A>C (p.Asp128Ala) c.170A>C (p.Asp57Ala) n.466A>C n.654A>C c.278A>C (p.Asp93Ala) n.635A>C c.-423A>C (n.-423A>C) | |
| 4 | g.1001540A>G | CA355961789 | IDUA | c.566A>G (p.Asp189Gly) n.622A>G c.425A>G (p.Asp142Gly) c.526A>G c.359A>G (p.Asp120Gly) c.383A>G (p.Asp128Gly) c.170A>G (p.Asp57Gly) n.466A>G n.654A>G c.278A>G (p.Asp93Gly) n.635A>G c.-423A>G (n.-423A>G) | |
| 4 | g.1001540A>T | CA355961787 | IDUA | c.566A>T (p.Asp189Val) n.622A>T c.425A>T (p.Asp142Val) c.526A>T c.359A>T (p.Asp120Val) c.383A>T (p.Asp128Val) c.170A>T (p.Asp57Val) n.466A>T n.654A>T c.278A>T (p.Asp93Val) n.635A>T c.-423A>T (n.-423A>T) | |
| 4 | g.1001541C>A | CA355961790 | IDUA | c.567C>A (p.Asp189Glu) n.623C>A c.426C>A (p.Asp142Glu) c.527C>A c.360C>A (p.Asp120Glu) c.384C>A (p.Asp128Glu) c.171C>A (p.Asp57Glu) n.467C>A n.655C>A c.279C>A (p.Asp93Glu) n.636C>A c.-422C>A (n.-422C>A) | |
| 4 | g.1001541C>G | CA355961791 | IDUA | c.567C>G (p.Asp189Glu) n.623C>G c.426C>G (p.Asp142Glu) c.527C>G c.360C>G (p.Asp120Glu) c.384C>G (p.Asp128Glu) c.171C>G (p.Asp57Glu) n.467C>G n.655C>G c.279C>G (p.Asp93Glu) n.636C>G c.-422C>G (n.-422C>G) | |
| 4 | g.1001541C>T | CA437918924 | IDUA | c.567C>T (p.Asp189=) n.623C>T c.426C>T (p.Asp142=) c.527C>T c.360C>T (p.Asp120=) c.384C>T (p.Asp128=) c.171C>T (p.Asp57=) n.467C>T n.655C>T c.279C>T (p.Asp93=) n.636C>T c.-422C>T (n.-422C>T) | ClinVar |
| 4 | g.1001542A>C | CA355961792 | IDUA | c.568A>C (p.Asn190His) n.624A>C c.427A>C (p.Asn143His) c.528A>C c.361A>C (p.Asn121His) c.385A>C (p.Asn129His) c.172A>C (p.Asn58His) n.468A>C n.656A>C c.280A>C (p.Asn94His) n.637A>C c.-421A>C (n.-421A>C) | |
| 4 | g.1001542A>G | CA355961793 | IDUA | c.568A>G (p.Asn190Asp) n.624A>G c.427A>G (p.Asn143Asp) c.528A>G c.361A>G (p.Asn121Asp) c.385A>G (p.Asn129Asp) c.172A>G (p.Asn58Asp) n.468A>G n.656A>G c.280A>G (p.Asn94Asp) n.637A>G c.-421A>G (n.-421A>G) | |
| 4 | g.1001542A>T | CA355961794 | IDUA | c.568A>T (p.Asn190Tyr) n.624A>T c.427A>T (p.Asn143Tyr) c.528A>T c.361A>T (p.Asn121Tyr) c.385A>T (p.Asn129Tyr) c.172A>T (p.Asn58Tyr) n.468A>T n.656A>T c.280A>T (p.Asn94Tyr) n.637A>T c.-421A>T (n.-421A>T) | gnomAD v4 |
| 4 | g.1001543A= | CA1433067445 | IDUA | c.569A= (p.Asn190=) n.625A= c.428A= (p.Asn143=) c.529A= c.362A= (p.Asn121=) c.386A= (p.Asn129=) c.173A= (p.Asn58=) n.469A= n.657A= c.281A= (p.Asn94=) n.638A= c.-420A= (n.-420A=) | |
| 4 | g.1001543A>C | CA355961796 | IDUA | c.569A>C (p.Asn190Thr) n.625A>C c.428A>C (p.Asn143Thr) c.529A>C c.362A>C (p.Asn121Thr) c.386A>C (p.Asn129Thr) c.173A>C (p.Asn58Thr) n.469A>C n.657A>C c.281A>C (p.Asn94Thr) n.638A>C c.-420A>C (n.-420A>C) | |
| 4 | g.1001543A>G | CA91167270 | IDUA | c.569A>G (p.Asn190Ser) n.625A>G c.428A>G (p.Asn143Ser) c.529A>G c.362A>G (p.Asn121Ser) c.386A>G (p.Asn129Ser) c.173A>G (p.Asn58Ser) n.469A>G n.657A>G c.281A>G (p.Asn94Ser) n.638A>G c.-420A>G (n.-420A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.1001543A>T | CA355961795 | IDUA | c.569A>T (p.Asn190Ile) n.625A>T c.428A>T (p.Asn143Ile) c.529A>T c.362A>T (p.Asn121Ile) c.386A>T (p.Asn129Ile) c.173A>T (p.Asn58Ile) n.469A>T n.657A>T c.281A>T (p.Asn94Ile) n.638A>T c.-420A>T (n.-420A>T) | |
| 4 | g.1001543_1001544delinsAC | CA1433067447 | IDUA | c.569_570delinsAC (p.Asn190=) n.625_626delinsAC c.428_429delinsAC (p.Asn143=) c.529_530delinsAC c.362_363delinsAC (p.Asn121=) c.386_387delinsAC (p.Asn129=) c.173_174delinsAC (p.Asn58=) n.469_470delinsAC n.657_658delinsAC c.281_282delinsAC (p.Asn94=) n.638_639delinsAC c.-420_-419delinsAC (n.-420_-419delinsAC) | |
| 4 | g.1001544del | CA549153569 | IDUA | c.570del (p.Asn190LysfsTer4) n.626del c.429del (p.Asn143LysfsTer4) c.530del c.363del (p.Asn121LysfsTer4) c.387del (p.Asn129LysfsTer4) c.174del (p.Asn58LysfsTer4) n.470del n.658del c.282del (p.Asn94LysfsTer4) n.639del c.-419del (n.-419del) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.1001544C>A | CA355961797 | IDUA | c.570C>A (p.Asn190Lys) n.626C>A c.429C>A (p.Asn143Lys) c.530C>A c.363C>A (p.Asn121Lys) c.387C>A (p.Asn129Lys) c.174C>A (p.Asn58Lys) n.470C>A n.658C>A c.282C>A (p.Asn94Lys) n.639C>A c.-419C>A (n.-419C>A) | |
| 4 | g.1001544C= | CA1433067449 | IDUA | c.570C= (p.Asn190=) n.626C= c.429C= (p.Asn143=) c.530C= c.363C= (p.Asn121=) c.387C= (p.Asn129=) c.174C= (p.Asn58=) n.470C= n.658C= c.282C= (p.Asn94=) n.639C= c.-419C= (n.-419C=) | |
| 4 | g.1001544C>G | CA355961798 | IDUA | c.570C>G (p.Asn190Lys) n.626C>G c.429C>G (p.Asn143Lys) c.530C>G c.363C>G (p.Asn121Lys) c.387C>G (p.Asn129Lys) c.174C>G (p.Asn58Lys) n.470C>G n.658C>G c.282C>G (p.Asn94Lys) n.639C>G c.-419C>G (n.-419C>G) | |
| 4 | g.1001544C>T | CA437918925 | IDUA | c.570C>T (p.Asn190=) n.626C>T c.429C>T (p.Asn143=) c.530C>T c.363C>T (p.Asn121=) c.387C>T (p.Asn129=) c.174C>T (p.Asn58=) n.470C>T n.658C>T c.282C>T (p.Asn94=) n.639C>T c.-419C>T (n.-419C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.1001545G>A | CA355961799 | IDUA | c.571G>A (p.Val191Ile) n.627G>A c.430G>A (p.Val144Ile) c.531G>A c.364G>A (p.Val122Ile) c.388G>A (p.Val130Ile) c.175G>A (p.Val59Ile) n.471G>A n.659G>A c.283G>A (p.Val95Ile) n.640G>A c.-418G>A (n.-418G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.1001545G>C | CA2801995 | IDUA | c.571G>C (p.Val191Leu) n.627G>C c.430G>C (p.Val144Leu) c.531G>C c.364G>C (p.Val122Leu) c.388G>C (p.Val130Leu) c.175G>C (p.Val59Leu) n.471G>C n.659G>C c.283G>C (p.Val95Leu) n.640G>C c.-418G>C (n.-418G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.1001545G= | CA1433067452 | IDUA | c.571G= (p.Val191=) n.627G= c.430G= (p.Val144=) c.531G= c.364G= (p.Val122=) c.388G= (p.Val130=) c.175G= (p.Val59=) n.471G= n.659G= c.283G= (p.Val95=) n.640G= c.-418G= (n.-418G=) | |
| 4 | g.1001545G>T | CA355961800 | IDUA | c.571G>T (p.Val191Phe) n.627G>T c.430G>T (p.Val144Phe) c.531G>T c.364G>T (p.Val122Phe) c.388G>T (p.Val130Phe) c.175G>T (p.Val59Phe) n.471G>T n.659G>T c.283G>T (p.Val95Phe) n.640G>T c.-418G>T (n.-418G>T) | |
| 4 | g.1001546T>A | CA355961801 | IDUA | c.572T>A (p.Val191Asp) n.628T>A c.431T>A (p.Val144Asp) c.532T>A c.365T>A (p.Val122Asp) c.389T>A (p.Val130Asp) c.176T>A (p.Val59Asp) n.472T>A n.660T>A c.284T>A (p.Val95Asp) n.641T>A c.-417T>A (n.-417T>A) | gnomAD v4 |
| 4 | g.1001546T>C | CA355961803 | IDUA | c.572T>C (p.Val191Ala) n.628T>C c.431T>C (p.Val144Ala) c.532T>C c.365T>C (p.Val122Ala) c.389T>C (p.Val130Ala) c.176T>C (p.Val59Ala) n.472T>C n.660T>C c.284T>C (p.Val95Ala) n.641T>C c.-417T>C (n.-417T>C) | |
| 4 | g.1001546T>G | CA355961802 | IDUA | c.572T>G (p.Val191Gly) n.628T>G c.431T>G (p.Val144Gly) c.532T>G c.365T>G (p.Val122Gly) c.389T>G (p.Val130Gly) c.176T>G (p.Val59Gly) n.472T>G n.660T>G c.284T>G (p.Val95Gly) n.641T>G c.-417T>G (n.-417T>G) | |
| 4 | g.1001547C>A | CA437918926 | IDUA | c.573C>A (p.Val191=) n.629C>A c.432C>A (p.Val144=) c.533C>A c.366C>A (p.Val122=) c.390C>A (p.Val130=) c.177C>A (p.Val59=) n.473C>A n.661C>A c.285C>A (p.Val95=) n.642C>A c.-416C>A (n.-416C>A) | |
| 4 | g.1001547C= | CA1433067455 | IDUA | c.573C= (p.Val191=) n.629C= c.432C= (p.Val144=) c.533C= c.366C= (p.Val122=) c.390C= (p.Val130=) c.177C= (p.Val59=) n.473C= n.661C= c.285C= (p.Val95=) n.642C= c.-416C= (n.-416C=) | |
| 4 | g.1001547C>G | CA437918927 | IDUA | c.573C>G (p.Val191=) n.629C>G c.432C>G (p.Val144=) c.533C>G c.366C>G (p.Val122=) c.390C>G (p.Val130=) c.177C>G (p.Val59=) n.473C>G n.661C>G c.285C>G (p.Val95=) n.642C>G c.-416C>G (n.-416C>G) | ClinVar dbSNP gnomAD v4 |
| 4 | g.1001547C>T | CA437918928 | IDUA | c.573C>T (p.Val191=) n.629C>T c.432C>T (p.Val144=) c.533C>T c.366C>T (p.Val122=) c.390C>T (p.Val130=) c.177C>T (p.Val59=) n.473C>T n.661C>T c.285C>T (p.Val95=) n.642C>T c.-416C>T (n.-416C>T) | ClinVar dbSNP gnomAD v4 |
| 4 | g.1001548del | CA2586973521 | IDUA | c.574del (p.Ser192ProfsTer2) n.630del c.433del (p.Ser145ProfsTer2) c.534del c.367del (p.Ser123ProfsTer2) c.391del (p.Ser131ProfsTer2) c.178del (p.Ser60ProfsTer2) n.474del n.662del c.286del (p.Ser96ProfsTer2) n.643del c.-415del (n.-415del) |