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.42543956_42543964del | CA2637976277 | NAGLU | c.1950_1958del (p.Pro651_Gly653del) c.1288_1296del (n.1288_1296del) c.1119_1127del (p.Pro374_Gly376del) c.951_959del (p.Pro318_Gly320del) c.2007_2015del (p.Pro670_Gly672del) | gnomAD v4 |
| 17 | g.42543956G>A | CA500218758 | NAGLU | c.1950G>A (p.Gly650=) c.1288G>A (n.1288G>A) c.1119G>A (p.Gly373=) c.951G>A (p.Gly317=) c.2007G>A (p.Gly669=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.42543956G>C | CA500218763 | NAGLU | c.1950G>C (p.Gly650=) c.1288G>C (n.1288G>C) c.1119G>C (p.Gly373=) c.951G>C (p.Gly317=) c.2007G>C (p.Gly669=) | |
| 17 | g.42543956G= | CA2260530544 | NAGLU | c.1950G= (p.Gly650=) c.1288G= (n.1288G=) c.1119G= (p.Gly373=) c.951G= (p.Gly317=) c.2007G= (p.Gly669=) | |
| 17 | g.42543956G>T | CA500218760 | NAGLU | c.1950G>T (p.Gly650=) c.1288G>T (n.1288G>T) c.1119G>T (p.Gly373=) c.951G>T (p.Gly317=) c.2007G>T (p.Gly669=) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42543957_42543960dup | CA2695225869 | NAGLU | c.1951_1954dup (p.Glu652AlafsTer?) c.1289_1292dup (n.1289_1292dup) c.1120_1123dup (p.Glu375AlafsTer?) c.952_955dup (p.Glu319AlafsTer?) c.2008_2011dup (p.Glu671AlafsTer?) | |
| 17 | g.42543957C>A | CA399605600 | NAGLU | c.1951C>A (p.Pro651Thr) c.1289C>A (n.1289C>A) c.1120C>A (p.Pro374Thr) c.952C>A (p.Pro318Thr) c.2008C>A (p.Pro670Thr) | |
| 17 | g.42543957C>G | CA399605602 | NAGLU | c.1951C>G (p.Pro651Ala) c.1289C>G (n.1289C>G) c.1120C>G (p.Pro374Ala) c.952C>G (p.Pro318Ala) c.2008C>G (p.Pro670Ala) | |
| 17 | g.42543957C>T | CA399605603 | NAGLU | c.1951C>T (p.Pro651Ser) c.1289C>T (n.1289C>T) c.1120C>T (p.Pro374Ser) c.952C>T (p.Pro318Ser) c.2008C>T (p.Pro670Ser) | gnomAD v4 |
| 17 | g.42543958C>A | CA399605607 | NAGLU | c.1952C>A (p.Pro651Gln) c.1290C>A (n.1290C>A) c.1121C>A (p.Pro374Gln) c.953C>A (p.Pro318Gln) c.2009C>A (p.Pro670Gln) | |
| 17 | g.42543958C>G | CA399605606 | NAGLU | c.1952C>G (p.Pro651Arg) c.1290C>G (n.1290C>G) c.1121C>G (p.Pro374Arg) c.953C>G (p.Pro318Arg) c.2009C>G (p.Pro670Arg) | |
| 17 | g.42543958C>T | CA399605604 | NAGLU | c.1952C>T (p.Pro651Leu) c.1290C>T (n.1290C>T) c.1121C>T (p.Pro374Leu) c.953C>T (p.Pro318Leu) c.2009C>T (p.Pro670Leu) | gnomAD v4 |
| 17 | g.42543959A>C | CA500218782 | NAGLU | c.1953A>C (p.Pro651=) c.1291A>C (n.1291A>C) c.1122A>C (p.Pro374=) c.954A>C (p.Pro318=) c.2010A>C (p.Pro670=) | |
| 17 | g.42543959A>G | CA500218779 | NAGLU | c.1953A>G (p.Pro651=) c.1291A>G (n.1291A>G) c.1122A>G (p.Pro374=) c.954A>G (p.Pro318=) c.2010A>G (p.Pro670=) | |
| 17 | g.42543959A>T | CA500218783 | NAGLU | c.1953A>T (p.Pro651=) c.1291A>T (n.1291A>T) c.1122A>T (p.Pro374=) c.954A>T (p.Pro318=) c.2010A>T (p.Pro670=) | |
| 17 | g.42543960G>A | CA399605609 | NAGLU | c.1954G>A (p.Glu652Lys) c.1292G>A (n.1292G>A) c.1123G>A (p.Glu375Lys) c.955G>A (p.Glu319Lys) c.2011G>A (p.Glu671Lys) | dbSNP |
| 17 | g.42543960G>C | CA399605611 | NAGLU | c.1954G>C (p.Glu652Gln) c.1292G>C (n.1292G>C) c.1123G>C (p.Glu375Gln) c.955G>C (p.Glu319Gln) c.2011G>C (p.Glu671Gln) | gnomAD v4 |
| 17 | g.42543960G= | CA2260530545 | NAGLU | c.1954G= (p.Glu652=) c.1292G= (n.1292G=) c.1123G= (p.Glu375=) c.955G= (p.Glu319=) c.2011G= (p.Glu671=) | |
| 17 | g.42543960G>T | CA399605613 | NAGLU | c.1954G>T (p.Glu652Ter) c.1292G>T (n.1292G>T) c.1123G>T (p.Glu375Ter) c.955G>T (p.Glu319Ter) c.2011G>T (p.Glu671Ter) | |
| 17 | g.42543961A>C | CA399605615 | NAGLU | c.1955A>C (p.Glu652Ala) c.1293A>C (n.1293A>C) c.1124A>C (p.Glu375Ala) c.956A>C (p.Glu319Ala) c.2012A>C (p.Glu671Ala) | |
| 17 | g.42543961A>G | CA399605617 | NAGLU | c.1955A>G (p.Glu652Gly) c.1293A>G (n.1293A>G) c.1124A>G (p.Glu375Gly) c.956A>G (p.Glu319Gly) c.2012A>G (p.Glu671Gly) | gnomAD v4 |
| 17 | g.42543961A>T | CA399605619 | NAGLU | c.1955A>T (p.Glu652Val) c.1293A>T (n.1293A>T) c.1124A>T (p.Glu375Val) c.956A>T (p.Glu319Val) c.2012A>T (p.Glu671Val) | gnomAD v4 |
| 17 | g.42543962A= | CA2260530546 | NAGLU | c.1956A= (p.Glu652=) c.1294A= (n.1294A=) c.1125A= (p.Glu375=) c.957A= (p.Glu319=) c.2013A= (p.Glu671=) | |
| 17 | g.42543962A>C | CA399605623 | NAGLU | c.1956A>C (p.Glu652Asp) c.1294A>C (n.1294A>C) c.1125A>C (p.Glu375Asp) c.957A>C (p.Glu319Asp) c.2013A>C (p.Glu671Asp) | |
| 17 | g.42543962A>G | CA500218796 | NAGLU | c.1956A>G (p.Glu652=) c.1294A>G (n.1294A>G) c.1125A>G (p.Glu375=) c.957A>G (p.Glu319=) c.2013A>G (p.Glu671=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42543962A>T | CA399605621 | NAGLU | c.1956A>T (p.Glu652Asp) c.1294A>T (n.1294A>T) c.1125A>T (p.Glu375Asp) c.957A>T (p.Glu319Asp) c.2013A>T (p.Glu671Asp) | |
| 17 | g.42543963G>A | CA399605625 | NAGLU | c.1957G>A (p.Gly653Ser) c.1295G>A (n.1295G>A) c.1126G>A (p.Gly376Ser) c.958G>A (p.Gly320Ser) c.2014G>A (p.Gly672Ser) | |
| 17 | g.42543963G>C | CA399605626 | NAGLU | c.1957G>C (p.Gly653Arg) c.1295G>C (n.1295G>C) c.1126G>C (p.Gly376Arg) c.958G>C (p.Gly320Arg) c.2014G>C (p.Gly672Arg) | |
| 17 | g.42543963G>T | CA399605628 | NAGLU | c.1957G>T (p.Gly653Cys) c.1295G>T (n.1295G>T) c.1126G>T (p.Gly376Cys) c.958G>T (p.Gly320Cys) c.2014G>T (p.Gly672Cys) | |
| 17 | g.42543964G>A | CA399605630 | NAGLU | c.1958G>A (p.Gly653Asp) c.1296G>A (n.1296G>A) c.1127G>A (p.Gly376Asp) c.959G>A (p.Gly320Asp) c.2015G>A (p.Gly672Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42543964G>C | CA399605632 | NAGLU | c.1958G>C (p.Gly653Ala) c.1296G>C (n.1296G>C) c.1127G>C (p.Gly376Ala) c.959G>C (p.Gly320Ala) c.2015G>C (p.Gly672Ala) | |
| 17 | g.42543964G= | CA2260530547 | NAGLU | c.1958G= (p.Gly653=) c.1296G= (n.1296G=) c.1127G= (p.Gly376=) c.959G= (p.Gly320=) c.2015G= (p.Gly672=) | |
| 17 | g.42543964G>T | CA399605634 | NAGLU | c.1958G>T (p.Gly653Val) c.1296G>T (n.1296G>T) c.1127G>T (p.Gly376Val) c.959G>T (p.Gly320Val) c.2015G>T (p.Gly672Val) | |
| 17 | g.42543965C>A | CA500217065 | NAGLU | c.1959C>A (p.Gly653=) c.1297C>A (n.1297C>A) c.1128C>A (p.Gly376=) c.960C>A (p.Gly320=) c.2016C>A (p.Gly672=) | |
| 17 | g.42543965C= | CA2260530548 | NAGLU | c.1959C= (p.Gly653=) c.1297C= (n.1297C=) c.1128C= (p.Gly376=) c.960C= (p.Gly320=) c.2016C= (p.Gly672=) | |
| 17 | g.42543965C>G | CA500217064 | NAGLU | c.1959C>G (p.Gly653=) c.1297C>G (n.1297C>G) c.1128C>G (p.Gly376=) c.960C>G (p.Gly320=) c.2016C>G (p.Gly672=) | |
| 17 | g.42543965C>T | CA500217066 | NAGLU | c.1959C>T (p.Gly653=) c.1297C>T (n.1297C>T) c.1128C>T (p.Gly376=) c.960C>T (p.Gly320=) c.2016C>T (p.Gly672=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42543966A>C | CA399605636 | NAGLU | c.1960A>C (p.Asn654His) c.1298A>C (n.1298A>C) c.1129A>C (p.Asn377His) c.961A>C (p.Asn321His) c.2017A>C (p.Asn673His) | |
| 17 | g.42543966A>G | CA399605640 | NAGLU | c.1960A>G (p.Asn654Asp) c.1298A>G (n.1298A>G) c.1129A>G (p.Asn377Asp) c.961A>G (p.Asn321Asp) c.2017A>G (p.Asn673Asp) | |
| 17 | g.42543966A>T | CA399605637 | NAGLU | c.1960A>T (p.Asn654Tyr) c.1298A>T (n.1298A>T) c.1129A>T (p.Asn377Tyr) c.961A>T (p.Asn321Tyr) c.2017A>T (p.Asn673Tyr) | |
| 17 | g.42543967A>C | CA399605642 | NAGLU | c.1961A>C (p.Asn654Thr) c.1299A>C (n.1299A>C) c.1130A>C (p.Asn377Thr) c.962A>C (p.Asn321Thr) c.2018A>C (p.Asn673Thr) | |
| 17 | g.42543967A>G | CA399605643 | NAGLU | c.1961A>G (p.Asn654Ser) c.1299A>G (n.1299A>G) c.1130A>G (p.Asn377Ser) c.962A>G (p.Asn321Ser) c.2018A>G (p.Asn673Ser) | |
| 17 | g.42543967A>T | CA399605645 | NAGLU | c.1961A>T (p.Asn654Ile) c.1299A>T (n.1299A>T) c.1130A>T (p.Asn377Ile) c.962A>T (p.Asn321Ile) c.2018A>T (p.Asn673Ile) | |
| 17 | g.42543968C>A | CA399605648 | NAGLU | c.1962C>A (p.Asn654Lys) c.1300C>A (n.1300C>A) c.1131C>A (p.Asn377Lys) c.963C>A (p.Asn321Lys) c.2019C>A (p.Asn673Lys) | |
| 17 | g.42543968C>G | CA399605649 | NAGLU | c.1962C>G (p.Asn654Lys) c.1300C>G (n.1300C>G) c.1131C>G (p.Asn377Lys) c.963C>G (p.Asn321Lys) c.2019C>G (p.Asn673Lys) | |
| 17 | g.42543968C>T | CA500217068 | NAGLU | c.1962C>T (p.Asn654=) c.1300C>T (n.1300C>T) c.1131C>T (p.Asn377=) c.963C>T (p.Asn321=) c.2019C>T (p.Asn673=) | |
| 17 | g.42543969A>C | CA399605651 | NAGLU | c.1963A>C (p.Ile655Leu) c.1301A>C (n.1301A>C) c.1132A>C (p.Ile378Leu) c.964A>C (p.Ile322Leu) c.2020A>C (p.Ile674Leu) | |
| 17 | g.42543969A>G | CA399605652 | NAGLU | c.1963A>G (p.Ile655Val) c.1301A>G (n.1301A>G) c.1132A>G (p.Ile378Val) c.964A>G (p.Ile322Val) c.2020A>G (p.Ile674Val) | |
| 17 | g.42543969A>T | CA399605655 | NAGLU | c.1963A>T (p.Ile655Phe) c.1301A>T (n.1301A>T) c.1132A>T (p.Ile378Phe) c.964A>T (p.Ile322Phe) c.2020A>T (p.Ile674Phe) | |
| 17 | g.42543970T>A | CA399605656 | NAGLU | c.1964T>A (p.Ile655Asn) c.1302T>A (n.1302T>A) c.1133T>A (p.Ile378Asn) c.965T>A (p.Ile322Asn) c.2021T>A (p.Ile674Asn) |