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.42543355A>C | CA399601982 | NAGLU | c.1349A>C (p.Gln450Pro) c.687A>C (n.687A>C) c.388A>C c.518A>C (p.Gln173Pro) c.350A>C (p.Gln117Pro) c.1406A>C (p.Gln469Pro) | |
| 17 | g.42543355A>G | CA399601984 | NAGLU | c.1349A>G (p.Gln450Arg) c.687A>G (n.687A>G) c.388A>G c.518A>G (p.Gln173Arg) c.350A>G (p.Gln117Arg) c.1406A>G (p.Gln469Arg) | gnomAD v4 |
| 17 | g.42543355A>T | CA399601986 | NAGLU | c.1349A>T (p.Gln450Leu) c.687A>T (n.687A>T) c.388A>T c.518A>T (p.Gln173Leu) c.350A>T (p.Gln117Leu) c.1406A>T (p.Gln469Leu) | |
| 17 | g.42543356G>A | CA8577004 | NAGLU | c.1350G>A (p.Gln450=) c.688G>A (n.688G>A) c.389G>A c.519G>A (p.Gln173=) c.351G>A (p.Gln117=) c.1407G>A (p.Gln469=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42543356G>C | CA399601989 | NAGLU | c.1350G>C (p.Gln450His) c.688G>C (n.688G>C) c.389G>C c.519G>C (p.Gln173His) c.351G>C (p.Gln117His) c.1407G>C (p.Gln469His) | |
| 17 | g.42543356G= | CA2260530229 | NAGLU | c.1350G= (p.Gln450=) c.688G= (n.688G=) c.389G= c.519G= (p.Gln173=) c.351G= (p.Gln117=) c.1407G= (p.Gln469=) | |
| 17 | g.42543356G>T | CA399601991 | NAGLU | c.1350G>T (p.Gln450His) c.688G>T (n.688G>T) c.389G>T c.519G>T (p.Gln173His) c.351G>T (p.Gln117His) c.1407G>T (p.Gln469His) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42543356_42543357insCCCGC | CA919842926 | NAGLU | c.1350_1351insCCCGC (p.Asn451ProfsTer27) c.688_689insCCCGC (n.688_689insCCCGC) c.389_390insCCCGC c.519_520insCCCGC (p.Asn174ProfsTer27) c.351_352insCCCGC (p.Asn118ProfsTer27) c.1407_1408insCCCGC (p.Asn470ProfsTer27) | dbSNP |
| 17 | g.42543357A= | CA2260530230 | NAGLU | c.1351A= (p.Asn451=) c.689A= (n.689A=) c.390A= c.520A= (p.Asn174=) c.352A= (p.Asn118=) c.1408A= (p.Asn470=) | |
| 17 | g.42543357A>C | CA399601997 | NAGLU | c.1351A>C (p.Asn451His) c.689A>C (n.689A>C) c.390A>C c.520A>C (p.Asn174His) c.352A>C (p.Asn118His) c.1408A>C (p.Asn470His) | |
| 17 | g.42543357A>G | CA399601996 | NAGLU | c.1351A>G (p.Asn451Asp) c.689A>G (n.689A>G) c.390A>G c.520A>G (p.Asn174Asp) c.352A>G (p.Asn118Asp) c.1408A>G (p.Asn470Asp) | |
| 17 | g.42543357A>T | CA399601994 | NAGLU | c.1351A>T (p.Asn451Tyr) c.689A>T (n.689A>T) c.390A>T c.520A>T (p.Asn174Tyr) c.352A>T (p.Asn118Tyr) c.1408A>T (p.Asn470Tyr) | |
| 17 | g.42543358dup | CA772114579 | NAGLU | c.1352dup (p.Asn451LysfsTer10) c.690dup (n.690dup) c.391dup c.521dup (p.Asn174LysfsTer10) c.353dup (p.Asn118LysfsTer10) c.1409dup (p.Asn470LysfsTer10) | dbSNP |
| 17 | g.42543357_42543358insC | CA919842927 | NAGLU | c.1351_1352insC (p.Asn451ThrfsTer10) c.689_690insC (n.689_690insC) c.390_391insC c.520_521insC (p.Asn174ThrfsTer10) c.352_353insC (p.Asn118ThrfsTer10) c.1408_1409insC (p.Asn470ThrfsTer10) | dbSNP |
| 17 | g.42543358A>C | CA399602000 | NAGLU | c.1352A>C (p.Asn451Thr) c.690A>C (n.690A>C) c.391A>C c.521A>C (p.Asn174Thr) c.353A>C (p.Asn118Thr) c.1409A>C (p.Asn470Thr) | |
| 17 | g.42543358A>G | CA399602001 | NAGLU | c.1352A>G (p.Asn451Ser) c.690A>G (n.690A>G) c.391A>G c.521A>G (p.Asn174Ser) c.353A>G (p.Asn118Ser) c.1409A>G (p.Asn470Ser) | |
| 17 | g.42543358A>T | CA399602003 | NAGLU | c.1352A>T (p.Asn451Ile) c.690A>T (n.690A>T) c.391A>T c.521A>T (p.Asn174Ile) c.353A>T (p.Asn118Ile) c.1409A>T (p.Asn470Ile) | |
| 17 | g.42543359C>A | CA399602005 | NAGLU | c.1353C>A (p.Asn451Lys) c.691C>A (n.691C>A) c.392C>A c.522C>A (p.Asn174Lys) c.354C>A (p.Asn118Lys) c.1410C>A (p.Asn470Lys) | |
| 17 | g.42543359C= | CA2260530231 | NAGLU | c.1353C= (p.Asn451=) c.691C= (n.691C=) c.392C= c.522C= (p.Asn174=) c.354C= (p.Asn118=) c.1410C= (p.Asn470=) | |
| 17 | g.42543359C>G | CA399602007 | NAGLU | c.1353C>G (p.Asn451Lys) c.691C>G (n.691C>G) c.392C>G c.522C>G (p.Asn174Lys) c.354C>G (p.Asn118Lys) c.1410C>G (p.Asn470Lys) | |
| 17 | g.42543359C>T | CA8577005 | NAGLU | c.1353C>T (p.Asn451=) c.691C>T (n.691C>T) c.392C>T c.522C>T (p.Asn174=) c.354C>T (p.Asn118=) c.1410C>T (p.Asn470=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.42543359_42543360insCGCGTT | CA2260530232 | NAGLU | c.1353_1354insCGCGTT (p.Asn451_Glu452insArgVal) c.691_692insCGCGTT (n.691_692insCGCGTT) c.392_393insCGCGTT c.522_523insCGCGTT (p.Asn174_Glu175insArgVal) c.354_355insCGCGTT (p.Asn118_Glu119insArgVal) c.1410_1411insCGCGTT (p.Asn470_Glu471insArgVal) | dbSNP |
| 17 | g.42543360G>A | CA399602009 | NAGLU | c.1354G>A (p.Glu452Lys) c.692G>A (n.692G>A) c.393G>A c.523G>A (p.Glu175Lys) c.355G>A (p.Glu119Lys) c.1411G>A (p.Glu471Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 17 | g.42543360G>C | CA399602013 | NAGLU | c.1354G>C (p.Glu452Gln) c.692G>C (n.692G>C) c.393G>C c.523G>C (p.Glu175Gln) c.355G>C (p.Glu119Gln) c.1411G>C (p.Glu471Gln) | |
| 17 | g.42543360G= | CA2260530233 | NAGLU | c.1354G= (p.Glu452=) c.692G= (n.692G=) c.393G= c.523G= (p.Glu175=) c.355G= (p.Glu119=) c.1411G= (p.Glu471=) | |
| 17 | g.42543360G>T | CA399602011 | NAGLU | c.1354G>T (p.Glu452Ter) c.692G>T (n.692G>T) c.393G>T c.523G>T (p.Glu175Ter) c.355G>T (p.Glu119Ter) c.1411G>T (p.Glu471Ter) | |
| 17 | g.42543361A= | CA2260530234 | NAGLU | c.1355A= (p.Glu452=) c.693A= (n.693A=) c.394A= c.524A= (p.Glu175=) c.356A= (p.Glu119=) c.1412A= (p.Glu471=) | |
| 17 | g.42543361A>C | CA399602016 | NAGLU | c.1355A>C (p.Glu452Ala) c.693A>C (n.693A>C) c.394A>C c.524A>C (p.Glu175Ala) c.356A>C (p.Glu119Ala) c.1412A>C (p.Glu471Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42543361A>G | CA399602017 | NAGLU | c.1355A>G (p.Glu452Gly) c.693A>G (n.693A>G) c.394A>G c.524A>G (p.Glu175Gly) c.356A>G (p.Glu119Gly) c.1412A>G (p.Glu471Gly) | dbSNP |
| 17 | g.42543361A>T | CA399602021 | NAGLU | c.1355A>T (p.Glu452Val) c.693A>T (n.693A>T) c.394A>T c.524A>T (p.Glu175Val) c.356A>T (p.Glu119Val) c.1412A>T (p.Glu471Val) | |
| 17 | g.42543362A= | CA2260530235 | NAGLU | c.1356A= (p.Glu452=) c.694A= (n.694A=) c.395A= c.525A= (p.Glu175=) c.357A= (p.Glu119=) c.1413A= (p.Glu471=) | |
| 17 | g.42543362A>C | CA399602023 | NAGLU | c.1356A>C (p.Glu452Asp) c.694A>C (n.694A>C) c.395A>C c.525A>C (p.Glu175Asp) c.357A>C (p.Glu119Asp) c.1413A>C (p.Glu471Asp) | |
| 17 | g.42543362A>G | CA500216899 | NAGLU | c.1356A>G (p.Glu452=) c.694A>G (n.694A>G) c.395A>G c.525A>G (p.Glu175=) c.357A>G (p.Glu119=) c.1413A>G (p.Glu471=) | dbSNP |
| 17 | g.42543362A>T | CA399602024 | NAGLU | c.1356A>T (p.Glu452Asp) c.694A>T (n.694A>T) c.395A>T c.525A>T (p.Glu175Asp) c.357A>T (p.Glu119Asp) c.1413A>T (p.Glu471Asp) | |
| 17 | g.42543363G>A | CA399602025 | NAGLU | c.1357G>A (p.Val453Met) c.695G>A (n.695G>A) c.396G>A c.526G>A (p.Val176Met) c.358G>A (p.Val120Met) c.1414G>A (p.Val472Met) | |
| 17 | g.42543363G>C | CA399602027 | NAGLU | c.1357G>C (p.Val453Leu) c.695G>C (n.695G>C) c.396G>C c.526G>C (p.Val176Leu) c.358G>C (p.Val120Leu) c.1414G>C (p.Val472Leu) | |
| 17 | g.42543363G>T | CA399602029 | NAGLU | c.1357G>T (p.Val453Leu) c.695G>T (n.695G>T) c.396G>T c.526G>T (p.Val176Leu) c.358G>T (p.Val120Leu) c.1414G>T (p.Val472Leu) | |
| 17 | g.42543364T>A | CA399602031 | NAGLU | c.1358T>A (p.Val453Glu) c.696T>A (n.696T>A) c.397T>A c.527T>A (p.Val176Glu) c.359T>A (p.Val120Glu) c.1415T>A (p.Val472Glu) | |
| 17 | g.42543364T>C | CA399602033 | NAGLU | c.1358T>C (p.Val453Ala) c.696T>C (n.696T>C) c.397T>C c.527T>C (p.Val176Ala) c.359T>C (p.Val120Ala) c.1415T>C (p.Val472Ala) | |
| 17 | g.42543364T>G | CA399602035 | NAGLU | c.1358T>G (p.Val453Gly) c.696T>G (n.696T>G) c.397T>G c.527T>G (p.Val176Gly) c.359T>G (p.Val120Gly) c.1415T>G (p.Val472Gly) | |
| 17 | g.42543364dup | CA2809525049 | NAGLU | c.1358dup (p.Val454GlyfsTer7) c.696dup (n.696dup) c.397dup c.527dup (p.Val177GlyfsTer7) c.359dup (p.Val121GlyfsTer7) c.1415dup (p.Val473GlyfsTer7) | |
| 17 | g.42543364_42543365insTGCGGACACCGTC | CA2741537161 | NAGLU | c.1358_1359insTGCGGACACCGTC (p.Val454AlafsTer11) c.696_697insTGCGGACACCGTC (n.696_697insTGCGGACACCGTC) c.397_398insTGCGGACACCGTC c.527_528insTGCGGACACCGTC (p.Val177AlafsTer11) c.359_360insTGCGGACACCGTC (p.Val121AlafsTer11) c.1415_1416insTGCGGACACCGTC (p.Val473AlafsTer11) | |
| 17 | g.42543364_42543365insATTTTTAGTAGAGACGGGGTTTCGCTATGTA | CA2637971193 | NAGLU | c.1358_1359insATTTTTAGTAGAGACGGGGTTTCGCTATGTA (p.Val454PhefsTer17) c.696_697insATTTTTAGTAGAGACGGGGTTTCGCTATGTA (n.696_697insATTTTTAGTAGAGACGGGGTTTCGCTATGTA) c.397_398insATTTTTAGTAGAGACGGGGTTTCGCTATGTA c.527_528insATTTTTAGTAGAGACGGGGTTTCGCTATGTA (p.Val177PhefsTer17) c.359_360insATTTTTAGTAGAGACGGGGTTTCGCTATGTA (p.Val121PhefsTer17) c.1415_1416insATTTTTAGTAGAGACGGGGTTTCGCTATGTA (p.Val473PhefsTer17) | gnomAD v4 |
| 17 | g.42543365G>A | CA8577006 | NAGLU | c.1359G>A (p.Val453=) c.697G>A (n.697G>A) c.398G>A c.528G>A (p.Val176=) c.360G>A (p.Val120=) c.1416G>A (p.Val472=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.42543365G>C | CA500216900 | NAGLU | c.1359G>C (p.Val453=) c.697G>C (n.697G>C) c.398G>C c.528G>C (p.Val176=) c.360G>C (p.Val120=) c.1416G>C (p.Val472=) | gnomAD v4 |
| 17 | g.42543365G= | CA2260530236 | NAGLU | c.1359G= (p.Val453=) c.697G= (n.697G=) c.398G= c.528G= (p.Val176=) c.360G= (p.Val120=) c.1416G= (p.Val472=) | |
| 17 | g.42543365G>T | CA500216901 | NAGLU | c.1359G>T (p.Val453=) c.697G>T (n.697G>T) c.398G>T c.528G>T (p.Val176=) c.360G>T (p.Val120=) c.1416G>T (p.Val472=) | ClinVar |
| 17 | g.42543365_42543366insCGGACACC | CA2809525051 | NAGLU | c.1359_1360insCGGACACC (p.Val454ArgfsTer25) c.697_698insCGGACACC (n.697_698insCGGACACC) c.398_399insCGGACACC c.528_529insCGGACACC (p.Val177ArgfsTer25) c.360_361insCGGACACC (p.Val121ArgfsTer25) c.1416_1417insCGGACACC (p.Val473ArgfsTer25) | |
| 17 | g.42543366G>A | CA399602040 | NAGLU | c.1360G>A (p.Val454Ile) c.698G>A (n.698G>A) c.399G>A c.529G>A (p.Val177Ile) c.361G>A (p.Val121Ile) c.1417G>A (p.Val473Ile) | dbSNP gnomAD v4 |
| 17 | g.42543366G>C | CA399602042 | NAGLU | c.1360G>C (p.Val454Leu) c.698G>C (n.698G>C) c.399G>C c.529G>C (p.Val177Leu) c.361G>C (p.Val121Leu) c.1417G>C (p.Val473Leu) |