WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.155235749_155235804delinsGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAA | CA2481201688 | GBA1 | c.1265_1320delinsTTGCCCTGAACCCCGAAGGAGGACCCAATTGGGTGCGTAACTTTGTCGACAGTCCC (p.Leu422=) c.1118_1173delinsTTGCCCTGAACCCCGAAGGAGGACCCAATTGGGTGCGTAACTTTGTCGACAGTCCC (p.Leu373=) c.1004_1059delinsTTGCCCTGAACCCCGAAGGAGGACCCAATTGGGTGCGTAACTTTGTCGACAGTCCC (p.Leu335=) n.32_87delinsTTGCCCTGAACCCCGAAGGAGGACCCAATTGGGTGCGTAACTTTGTCGACAGTCCC n.256_311delinsTTGCCCTGAACCCCGAAGGAGGACCCAATTGGGTGCGTAACTTTGTCGACAGTCCC n.424_479delinsTTGCCCTGAACCCCGAAGGAGGACCCAATTGGGTGCGTAACTTTGTCGACAGTCCC | |
| 1 | g.155235751_155235806del | CA2573051379 | GBA1 | c.1265_1320del (p.Leu422HisfsTer28) c.1118_1173del (p.Leu373HisfsTer28) c.1004_1059del (p.Leu335HisfsTer28) n.32_87del n.256_311del n.424_479del | ClinVar dbSNP |
| 1 | g.155235750_155235806delinsGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGG | CA1141188037 | GBA1 | c.1263_1319delinsCCTTGCCCTGAACCCCGAAGGAGGACCCAATTGGGTGCGTAACTTTGTCGACAGTCC (p.Asn421=) c.1116_1172delinsCCTTGCCCTGAACCCCGAAGGAGGACCCAATTGGGTGCGTAACTTTGTCGACAGTCC (p.Asn372=) c.1002_1058delinsCCTTGCCCTGAACCCCGAAGGAGGACCCAATTGGGTGCGTAACTTTGTCGACAGTCC (p.Asn334=) n.30_86delinsCCTTGCCCTGAACCCCGAAGGAGGACCCAATTGGGTGCGTAACTTTGTCGACAGTCC n.254_310delinsCCTTGCCCTGAACCCCGAAGGAGGACCCAATTGGGTGCGTAACTTTGTCGACAGTCC n.422_478delinsCCTTGCCCTGAACCCCGAAGGAGGACCCAATTGGGTGCGTAACTTTGTCGACAGTCC | |
| 1 | g.155235752_155235806del | CA253083 | GBA1 | c.1265_1319del (p.Leu422ProfsTer4) c.1118_1172del (p.Leu373ProfsTer4) c.1004_1058del (p.Leu335ProfsTer4) n.32_86del n.256_310del n.424_478del | ClinVar dbSNP |
| 1 | g.155235752_155235833del | CA2586967440 | GBA1 | c.1238_1319del (p.His413ProfsTer4) c.1091_1172del (p.His364ProfsTer4) c.977_1058del (p.His326ProfsTer4) n.5_86del n.229_310del n.397_478del | |
| 1 | g.155235752A>C | CA342713141 | GBA1 | c.1317T>G (p.Ser439Arg) c.1170T>G (p.Ser390Arg) c.1056T>G (p.Ser352Arg) n.84T>G n.308T>G n.476T>G | |
| 1 | g.155235752A>G | CA421020310 | GBA1 | c.1317T>C (p.Ser439=) c.1170T>C (p.Ser390=) c.1056T>C (p.Ser352=) n.84T>C n.308T>C n.476T>C | gnomAD v4 |
| 1 | g.155235752A>T | CA342713143 | GBA1 | c.1317T>A (p.Ser439Arg) c.1170T>A (p.Ser390Arg) c.1056T>A (p.Ser352Arg) n.84T>A n.308T>A n.476T>A | |
| 1 | g.155235753C>A | CA342713153 | GBA1 | c.1316G>T (p.Ser439Ile) c.1169G>T (p.Ser390Ile) c.1055G>T (p.Ser352Ile) n.83G>T n.307G>T n.475G>T | |
| 1 | g.155235753C= | CA2481201691 | GBA1 | c.1316G= (p.Ser439=) c.1169G= (p.Ser390=) c.1055G= (p.Ser352=) n.83G= n.307G= n.475G= | |
| 1 | g.155235753C>G | CA342713174 | GBA1 | c.1316G>C (p.Ser439Thr) c.1169G>C (p.Ser390Thr) c.1055G>C (p.Ser352Thr) n.83G>C n.307G>C n.475G>C | |
| 1 | g.155235753C>T | CA342713181 | GBA1 | c.1316G>A (p.Ser439Asn) c.1169G>A (p.Ser390Asn) c.1055G>A (p.Ser352Asn) n.83G>A n.307G>A n.475G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.155235754T>A | CA342713185 | GBA1 | c.1315A>T (p.Ser439Cys) c.1168A>T (p.Ser390Cys) c.1054A>T (p.Ser352Cys) n.82A>T n.306A>T n.474A>T | |
| 1 | g.155235754T>C | CA342713186 | GBA1 | c.1315A>G (p.Ser439Gly) c.1168A>G (p.Ser390Gly) c.1054A>G (p.Ser352Gly) n.82A>G n.306A>G n.474A>G | |
| 1 | g.155235754T>G | CA342713188 | GBA1 | c.1315A>C (p.Ser439Arg) c.1168A>C (p.Ser390Arg) c.1054A>C (p.Ser352Arg) n.82A>C n.306A>C n.474A>C | |
| 1 | g.155235755G>A | CA1141556 | GBA1 | c.1314C>T (p.Asp438=) c.1167C>T (p.Asp389=) c.1053C>T (p.Asp351=) n.81C>T n.305C>T n.473C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.155235755G>C | CA30894478 | GBA1 | c.1314C>G (p.Asp438Glu) c.1167C>G (p.Asp389Glu) c.1053C>G (p.Asp351Glu) n.81C>G n.305C>G n.473C>G | dbSNP |
| 1 | g.155235755G= | CA1140925642 | GBA1 | c.1314C= (p.Asp438=) c.1167C= (p.Asp389=) c.1053C= (p.Asp351=) n.81C= n.305C= n.473C= | |
| 1 | g.155235755G>T | CA342713200 | GBA1 | c.1314C>A (p.Asp438Glu) c.1167C>A (p.Asp389Glu) c.1053C>A (p.Asp351Glu) n.81C>A n.305C>A n.473C>A | |
| 1 | g.155235756T>A | CA342713212 | GBA1 | c.1313A>T (p.Asp438Val) c.1166A>T (p.Asp389Val) c.1052A>T (p.Asp351Val) n.80A>T n.304A>T n.472A>T | |
| 1 | g.155235756T>C | CA342713216 | GBA1 | c.1313A>G (p.Asp438Gly) c.1166A>G (p.Asp389Gly) c.1052A>G (p.Asp351Gly) n.80A>G n.304A>G n.472A>G | |
| 1 | g.155235756T>G | CA342713219 | GBA1 | c.1313A>C (p.Asp438Ala) c.1166A>C (p.Asp389Ala) c.1052A>C (p.Asp351Ala) n.80A>C n.304A>C n.472A>C | |
| 1 | g.155235757C>A | CA342713235 | GBA1 | c.1312G>T (p.Asp438Tyr) c.1165G>T (p.Asp389Tyr) c.1051G>T (p.Asp351Tyr) n.79G>T n.303G>T n.471G>T | ClinVar |
| 1 | g.155235757C= | CA2481201692 | GBA1 | c.1312G= (p.Asp438=) c.1165G= (p.Asp389=) c.1051G= (p.Asp351=) n.79G= n.303G= n.471G= | |
| 1 | g.155235757C>G | CA342713226 | GBA1 | c.1312G>C (p.Asp438His) c.1165G>C (p.Asp389His) c.1051G>C (p.Asp351His) n.79G>C n.303G>C n.471G>C | ClinVar dbSNP |
| 1 | g.155235757C>T | CA342713229 | GBA1 | c.1312G>A (p.Asp438Asn) c.1165G>A (p.Asp389Asn) c.1051G>A (p.Asp351Asn) n.79G>A n.303G>A n.471G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.155235758G>A | CA1141557 | GBA1 | c.1311C>T (p.Val437=) c.1164C>T (p.Val388=) c.1050C>T (p.Val350=) n.78C>T n.302C>T n.470C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.155235758G>C | CA30894482 | GBA1 | c.1311C>G (p.Val437=) c.1164C>G (p.Val388=) c.1050C>G (p.Val350=) n.78C>G n.302C>G n.470C>G | dbSNP gnomAD v4 |
| 1 | g.155235758G= | CA1141122424 | GBA1 | c.1311C= (p.Val437=) c.1164C= (p.Val388=) c.1050C= (p.Val350=) n.78C= n.302C= n.470C= | |
| 1 | g.155235758G>T | CA30894485 | GBA1 | c.1311C>A (p.Val437=) c.1164C>A (p.Val388=) c.1050C>A (p.Val350=) n.78C>A n.302C>A n.470C>A | dbSNP |
| 1 | g.155235759A>C | CA342713247 | GBA1 | c.1310T>G (p.Val437Gly) c.1163T>G (p.Val388Gly) c.1049T>G (p.Val350Gly) n.77T>G n.301T>G n.469T>G | |
| 1 | g.155235759A>G | CA342713251 | GBA1 | c.1310T>C (p.Val437Ala) c.1163T>C (p.Val388Ala) c.1049T>C (p.Val350Ala) n.77T>C n.301T>C n.469T>C | |
| 1 | g.155235759A>T | CA342713253 | GBA1 | c.1310T>A (p.Val437Asp) c.1163T>A (p.Val388Asp) c.1049T>A (p.Val350Asp) n.77T>A n.301T>A n.469T>A | |
| 1 | g.155235760del | CA2586967441 | GBA1 | c.1309del (p.Val437SerfsTer7) c.1162del (p.Val388SerfsTer7) c.1048del (p.Val350SerfsTer7) n.76del n.300del n.468del | |
| 1 | g.155235760C>A | CA253069 | GBA1 | c.1309G>T (p.Val437Phe) c.1162G>T (p.Val388Phe) c.1048G>T (p.Val350Phe) n.76G>T n.300G>T n.468G>T | ClinVar dbSNP COSMIC |
| 1 | g.155235760C= | CA1141581077 | GBA1 | c.1309G= (p.Val437=) c.1162G= (p.Val388=) c.1048G= (p.Val350=) n.76G= n.300G= n.468G= | |
| 1 | g.155235760C>G | CA342713274 | GBA1 | c.1309G>C (p.Val437Leu) c.1162G>C (p.Val388Leu) c.1048G>C (p.Val350Leu) n.76G>C n.300G>C n.468G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.155235760C>T | CA342713276 | GBA1 | c.1309G>A (p.Val437Ile) c.1162G>A (p.Val388Ile) c.1048G>A (p.Val350Ile) n.76G>A n.300G>A n.468G>A | |
| 1 | g.155235761A= | CA2481201693 | GBA1 | c.1308T= (p.Phe436=) c.1161T= (p.Phe387=) c.1047T= (p.Phe349=) n.75T= n.299T= n.467T= | |
| 1 | g.155235761A>C | CA342713280 | GBA1 | c.1308T>G (p.Phe436Leu) c.1161T>G (p.Phe387Leu) c.1047T>G (p.Phe349Leu) n.75T>G n.299T>G n.467T>G | |
| 1 | g.155235761A>G | CA421020317 | GBA1 | c.1308T>C (p.Phe436=) c.1161T>C (p.Phe387=) c.1047T>C (p.Phe349=) n.75T>C n.299T>C n.467T>C | |
| 1 | g.155235761A>T | CA342713300 | GBA1 | c.1308T>A (p.Phe436Leu) c.1161T>A (p.Phe387Leu) c.1047T>A (p.Phe349Leu) n.75T>A n.299T>A n.467T>A | dbSNP |
| 1 | g.155235762A= | CA1140933546 | GBA1 | c.1307T= (p.Phe436=) c.1160T= (p.Phe387=) c.1046T= (p.Phe349=) n.74T= n.298T= n.466T= | |
| 1 | g.155235762A>C | CA342713307 | GBA1 | c.1307T>G (p.Phe436Cys) c.1160T>G (p.Phe387Cys) c.1046T>G (p.Phe349Cys) n.74T>G n.298T>G n.466T>G | |
| 1 | g.155235762A>G | CA30894487 | GBA1 | c.1307T>C (p.Phe436Ser) c.1160T>C (p.Phe387Ser) c.1046T>C (p.Phe349Ser) n.74T>C n.298T>C n.466T>C | ClinVar dbSNP gnomAD v4 |
| 1 | g.155235762A>T | CA342713304 | GBA1 | c.1307T>A (p.Phe436Tyr) c.1160T>A (p.Phe387Tyr) c.1046T>A (p.Phe349Tyr) n.74T>A n.298T>A n.466T>A | |
| 1 | g.155235763A>C | CA342713323 | GBA1 | c.1306T>G (p.Phe436Val) c.1159T>G (p.Phe387Val) c.1045T>G (p.Phe349Val) n.73T>G n.297T>G n.465T>G | |
| 1 | g.155235763A>G | CA342713328 | GBA1 | c.1306T>C (p.Phe436Leu) c.1159T>C (p.Phe387Leu) c.1045T>C (p.Phe349Leu) n.73T>C n.297T>C n.465T>C | |
| 1 | g.155235763A>T | CA342713329 | GBA1 | c.1306T>A (p.Phe436Ile) c.1159T>A (p.Phe387Ile) c.1045T>A (p.Phe349Ile) n.73T>A n.297T>A n.465T>A | |
| 1 | g.155235764G>A | CA1141559 | GBA1 | c.1305C>T (p.Asn435=) c.1158C>T (p.Asn386=) c.1044C>T (p.Asn348=) n.72C>T n.296C>T n.464C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |