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 |
|---|---|---|---|---|---|
| 17 | g.42543697_42543700dup | CA2695225866 | NAGLU | c.1691_1694dup (p.Gln566SerfsTer13) c.1029_1032dup (n.1029_1032dup) c.860_863dup (p.Gln289SerfsTer13) c.692_695dup (p.Gln233SerfsTer13) c.1748_1751dup (p.Gln585SerfsTer13) | |
| 17 | g.42543700G>A | CA129472 | NAGLU | c.1694G>A (p.Arg565Gln) c.1032G>A (n.1032G>A) c.863G>A (p.Arg288Gln) c.695G>A (p.Arg232Gln) c.1751G>A (p.Arg584Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42543700G>C | CA115051 | NAGLU | c.1694G>C (p.Arg565Pro) c.1032G>C (n.1032G>C) c.863G>C (p.Arg288Pro) c.695G>C (p.Arg232Pro) c.1751G>C (p.Arg584Pro) | ClinVar dbSNP gnomAD v4 |
| 17 | g.42543700G= | CA2260530416 | NAGLU | c.1694G= (p.Arg565=) c.1032G= (n.1032G=) c.863G= (p.Arg288=) c.695G= (p.Arg232=) c.1751G= (p.Arg584=) | |
| 17 | g.42543700G>T | CA8577079 | NAGLU | c.1694G>T (p.Arg565Leu) c.1032G>T (n.1032G>T) c.863G>T (p.Arg288Leu) c.695G>T (p.Arg232Leu) c.1751G>T (p.Arg584Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 17 | g.42543701G>A | CA500217229 | NAGLU | c.1695G>A (p.Arg565=) c.1033G>A (n.1033G>A) c.864G>A (p.Arg288=) c.696G>A (p.Arg232=) c.1752G>A (p.Arg584=) | gnomAD v4 |
| 17 | g.42543701G>C | CA500217230 | NAGLU | c.1695G>C (p.Arg565=) c.1033G>C (n.1033G>C) c.864G>C (p.Arg288=) c.696G>C (p.Arg232=) c.1752G>C (p.Arg584=) | gnomAD v4 |
| 17 | g.42543701G>T | CA500217232 | NAGLU | c.1695G>T (p.Arg565=) c.1033G>T (n.1033G>T) c.864G>T (p.Arg288=) c.696G>T (p.Arg232=) c.1752G>T (p.Arg584=) | ClinVar gnomAD v4 |
| 17 | g.42543702C>A | CA399604505 | NAGLU | c.1696C>A (p.Gln566Lys) c.1034C>A (n.1034C>A) c.865C>A (p.Gln289Lys) c.697C>A (p.Gln233Lys) c.1753C>A (p.Gln585Lys) | |
| 17 | g.42543702C>G | CA399604507 | NAGLU | c.1696C>G (p.Gln566Glu) c.1034C>G (n.1034C>G) c.865C>G (p.Gln289Glu) c.697C>G (p.Gln233Glu) c.1753C>G (p.Gln585Glu) | |
| 17 | g.42543702C>T | CA399604508 | NAGLU | c.1696C>T (p.Gln566Ter) c.1034C>T (n.1034C>T) c.865C>T (p.Gln289Ter) c.697C>T (p.Gln233Ter) c.1753C>T (p.Gln585Ter) | ClinVar |
| 17 | g.42543703A>C | CA399604511 | NAGLU | c.1697A>C (p.Gln566Pro) c.1035A>C (n.1035A>C) c.866A>C (p.Gln289Pro) c.698A>C (p.Gln233Pro) c.1754A>C (p.Gln585Pro) | |
| 17 | g.42543703A>G | CA399604512 | NAGLU | c.1697A>G (p.Gln566Arg) c.1035A>G (n.1035A>G) c.866A>G (p.Gln289Arg) c.698A>G (p.Gln233Arg) c.1754A>G (p.Gln585Arg) | |
| 17 | g.42543703A>T | CA399604514 | NAGLU | c.1697A>T (p.Gln566Leu) c.1035A>T (n.1035A>T) c.866A>T (p.Gln289Leu) c.698A>T (p.Gln233Leu) c.1754A>T (p.Gln585Leu) | |
| 17 | g.42543704G>A | CA500217237 | NAGLU | c.1698G>A (p.Gln566=) c.1036G>A (n.1036G>A) c.867G>A (p.Gln289=) c.699G>A (p.Gln233=) c.1755G>A (p.Gln585=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42543704G>C | CA399604516 | NAGLU | c.1698G>C (p.Gln566His) c.1036G>C (n.1036G>C) c.867G>C (p.Gln289His) c.699G>C (p.Gln233His) c.1755G>C (p.Gln585His) | |
| 17 | g.42543704G= | CA2260530417 | NAGLU | c.1698G= (p.Gln566=) c.1036G= (n.1036G=) c.867G= (p.Gln289=) c.699G= (p.Gln233=) c.1755G= (p.Gln585=) | |
| 17 | g.42543704G>T | CA399604518 | NAGLU | c.1698G>T (p.Gln566His) c.1036G>T (n.1036G>T) c.867G>T (p.Gln289His) c.699G>T (p.Gln233His) c.1755G>T (p.Gln585His) | |
| 17 | g.42543705G>A | CA399604520 | NAGLU | c.1699G>A (p.Ala567Thr) c.1037G>A (n.1037G>A) c.868G>A (p.Ala290Thr) c.700G>A (p.Ala234Thr) c.1756G>A (p.Ala586Thr) | gnomAD v4 |
| 17 | g.42543705G>C | CA399604521 | NAGLU | c.1699G>C (p.Ala567Pro) c.1037G>C (n.1037G>C) c.868G>C (p.Ala290Pro) c.700G>C (p.Ala234Pro) c.1756G>C (p.Ala586Pro) | |
| 17 | g.42543705G= | CA2260530418 | NAGLU | c.1699G= (p.Ala567=) c.1037G= (n.1037G=) c.868G= (p.Ala290=) c.700G= (p.Ala234=) c.1756G= (p.Ala586=) | |
| 17 | g.42543705G>T | CA399604522 | NAGLU | c.1699G>T (p.Ala567Ser) c.1037G>T (n.1037G>T) c.868G>T (p.Ala290Ser) c.700G>T (p.Ala234Ser) c.1756G>T (p.Ala586Ser) | ClinVar dbSNP gnomAD v4 |
| 17 | g.42543706C>A | CA399604528 | NAGLU | c.1700C>A (p.Ala567Glu) c.1038C>A (n.1038C>A) c.869C>A (p.Ala290Glu) c.701C>A (p.Ala234Glu) c.1757C>A (p.Ala586Glu) | |
| 17 | g.42543706C= | CA2260530419 | NAGLU | c.1700C= (p.Ala567=) c.1038C= (n.1038C=) c.869C= (p.Ala290=) c.701C= (p.Ala234=) c.1757C= (p.Ala586=) | |
| 17 | g.42543706C>G | CA399604527 | NAGLU | c.1700C>G (p.Ala567Gly) c.1038C>G (n.1038C>G) c.869C>G (p.Ala290Gly) c.701C>G (p.Ala234Gly) c.1757C>G (p.Ala586Gly) | |
| 17 | g.42543706C>T | CA399604525 | NAGLU | c.1700C>T (p.Ala567Val) c.1038C>T (n.1038C>T) c.869C>T (p.Ala290Val) c.701C>T (p.Ala234Val) c.1757C>T (p.Ala586Val) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42543707A= | CA2260530420 | NAGLU | c.1701A= (p.Ala567=) c.1039A= (n.1039A=) c.870A= (p.Ala290=) c.702A= (p.Ala234=) c.1758A= (p.Ala586=) | |
| 17 | g.42543707A>C | CA500217246 | NAGLU | c.1701A>C (p.Ala567=) c.1039A>C (n.1039A>C) c.870A>C (p.Ala290=) c.702A>C (p.Ala234=) c.1758A>C (p.Ala586=) | |
| 17 | g.42543707A>G | CA8577080 | NAGLU | c.1701A>G (p.Ala567=) c.1039A>G (n.1039A>G) c.870A>G (p.Ala290=) c.702A>G (p.Ala234=) c.1758A>G (p.Ala586=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42543707A>T | CA500217245 | NAGLU | c.1701A>T (p.Ala567=) c.1039A>T (n.1039A>T) c.870A>T (p.Ala290=) c.702A>T (p.Ala234=) c.1758A>T (p.Ala586=) | |
| 17 | g.42543708G>A | CA399604530 | NAGLU | c.1702G>A (p.Val568Met) c.1040G>A (n.1040G>A) c.871G>A (p.Val291Met) c.703G>A (p.Val235Met) c.1759G>A (p.Val587Met) | |
| 17 | g.42543708G>C | CA399604531 | NAGLU | c.1702G>C (p.Val568Leu) c.1040G>C (n.1040G>C) c.871G>C (p.Val291Leu) c.703G>C (p.Val235Leu) c.1759G>C (p.Val587Leu) | |
| 17 | g.42543708G>T | CA399604533 | NAGLU | c.1702G>T (p.Val568Leu) c.1040G>T (n.1040G>T) c.871G>T (p.Val291Leu) c.703G>T (p.Val235Leu) c.1759G>T (p.Val587Leu) | |
| 17 | g.42543709T>A | CA399604535 | NAGLU | c.1703T>A (p.Val568Glu) c.1041T>A (n.1041T>A) c.872T>A (p.Val291Glu) c.704T>A (p.Val235Glu) c.1760T>A (p.Val587Glu) | |
| 17 | g.42543709T>C | CA399604537 | NAGLU | c.1703T>C (p.Val568Ala) c.1041T>C (n.1041T>C) c.872T>C (p.Val291Ala) c.704T>C (p.Val235Ala) c.1760T>C (p.Val587Ala) | gnomAD v4 |
| 17 | g.42543709T>G | CA8577081 | NAGLU | c.1703T>G (p.Val568Gly) c.1041T>G (n.1041T>G) c.872T>G (p.Val291Gly) c.704T>G (p.Val235Gly) c.1760T>G (p.Val587Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42543709T= | CA2260530421 | NAGLU | c.1703T= (p.Val568=) c.1041T= (n.1041T=) c.872T= (p.Val291=) c.704T= (p.Val235=) c.1760T= (p.Val587=) | |
| 17 | g.42543710G>A | CA500217184 | NAGLU | c.1704G>A (p.Val568=) c.1042G>A (n.1042G>A) c.873G>A (p.Val291=) c.705G>A (p.Val235=) c.1761G>A (p.Val587=) | ClinVar gnomAD v4 |
| 17 | g.42543710G>C | CA500217185 | NAGLU | c.1704G>C (p.Val568=) c.1042G>C (n.1042G>C) c.873G>C (p.Val291=) c.705G>C (p.Val235=) c.1761G>C (p.Val587=) | |
| 17 | g.42543710G>T | CA500217182 | NAGLU | c.1704G>T (p.Val568=) c.1042G>T (n.1042G>T) c.873G>T (p.Val291=) c.705G>T (p.Val235=) c.1761G>T (p.Val587=) | |
| 17 | g.42543711C>A | CA399604538 | NAGLU | c.1705C>A (p.Gln569Lys) c.1043C>A (n.1043C>A) c.874C>A (p.Gln292Lys) c.706C>A (p.Gln236Lys) c.1762C>A (p.Gln588Lys) | |
| 17 | g.42543711C= | CA2260530422 | NAGLU | c.1705C= (p.Gln569=) c.1043C= (n.1043C=) c.874C= (p.Gln292=) c.706C= (p.Gln236=) c.1762C= (p.Gln588=) | |
| 17 | g.42543711C>G | CA399604539 | NAGLU | c.1705C>G (p.Gln569Glu) c.1043C>G (n.1043C>G) c.874C>G (p.Gln292Glu) c.706C>G (p.Gln236Glu) c.1762C>G (p.Gln588Glu) | |
| 17 | g.42543711C>T | CA399604541 | NAGLU | c.1705C>T (p.Gln569Ter) c.1043C>T (n.1043C>T) c.874C>T (p.Gln292Ter) c.706C>T (p.Gln236Ter) c.1762C>T (p.Gln588Ter) | ClinVar dbSNP gnomAD v4 |
| 17 | g.42543712A= | CA2260530423 | NAGLU | c.1706A= (p.Gln569=) c.1044A= (n.1044A=) c.875A= (p.Gln292=) c.707A= (p.Gln236=) c.1763A= (p.Gln588=) | |
| 17 | g.42543712A>C | CA399604543 | NAGLU | c.1706A>C (p.Gln569Pro) c.1044A>C (n.1044A>C) c.875A>C (p.Gln292Pro) c.707A>C (p.Gln236Pro) c.1763A>C (p.Gln588Pro) | |
| 17 | g.42543712A>G | CA399604544 | NAGLU | c.1706A>G (p.Gln569Arg) c.1044A>G (n.1044A>G) c.875A>G (p.Gln292Arg) c.707A>G (p.Gln236Arg) c.1763A>G (p.Gln588Arg) | dbSNP gnomAD v4 |
| 17 | g.42543712A>T | CA399604545 | NAGLU | c.1706A>T (p.Gln569Leu) c.1044A>T (n.1044A>T) c.875A>T (p.Gln292Leu) c.707A>T (p.Gln236Leu) c.1763A>T (p.Gln588Leu) | |
| 17 | g.42543713G>A | CA500217190 | NAGLU | c.1707G>A (p.Gln569=) c.1045G>A (n.1045G>A) c.876G>A (p.Gln292=) c.708G>A (p.Gln236=) c.1764G>A (p.Gln588=) | ClinVar dbSNP |
| 17 | g.42543713G>C | CA399604547 | NAGLU | c.1707G>C (p.Gln569His) c.1045G>C (n.1045G>C) c.876G>C (p.Gln292His) c.708G>C (p.Gln236His) c.1764G>C (p.Gln588His) |