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 |
|---|---|---|---|---|---|
| 12 | g.101768023_101768107dup | CA951152237 | GNPTAB | c.1338_1408+14dup c.1338_1422dup (p.Asn475AspfsTer2) c.1257_1327+14dup c.1122_1192+14dup c.111_181+14dup | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.101768043A= | CA2058956965 | GNPTAB | c.1402T= (p.Cys468=) n.61T= c.1321T= (p.Cys441=) c.1186T= (p.Cys396=) c.175T= (p.Cys59=) | |
| 12 | g.101768043A>C | CA386301721 | GNPTAB | c.1402T>G (p.Cys468Gly) n.61T>G c.1321T>G (p.Cys441Gly) c.1186T>G (p.Cys396Gly) c.175T>G (p.Cys59Gly) | |
| 12 | g.101768043A>G | CA386301723 | GNPTAB | c.1402T>C (p.Cys468Arg) n.61T>C c.1321T>C (p.Cys441Arg) c.1186T>C (p.Cys396Arg) c.175T>C (p.Cys59Arg) | |
| 12 | g.101768043A>T | CA344270 | GNPTAB | c.1402T>A (p.Cys468Ser) n.61T>A c.1321T>A (p.Cys441Ser) c.1186T>A (p.Cys396Ser) c.175T>A (p.Cys59Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.101768044A>C | CA386301725 | GNPTAB | c.1401T>G (p.Asp467Glu) n.60T>G c.1320T>G (p.Asp440Glu) c.1185T>G (p.Asp395Glu) c.174T>G (p.Asp58Glu) | |
| 12 | g.101768044A>G | CA481320351 | GNPTAB | c.1401T>C (p.Asp467=) n.60T>C c.1320T>C (p.Asp440=) c.1185T>C (p.Asp395=) c.174T>C (p.Asp58=) | |
| 12 | g.101768044A>T | CA386301726 | GNPTAB | c.1401T>A (p.Asp467Glu) n.60T>A c.1320T>A (p.Asp440Glu) c.1185T>A (p.Asp395Glu) c.174T>A (p.Asp58Glu) | |
| 12 | g.101768045T>A | CA386301727 | GNPTAB | c.1400A>T (p.Asp467Val) n.59A>T c.1319A>T (p.Asp440Val) c.1184A>T (p.Asp395Val) c.173A>T (p.Asp58Val) | |
| 12 | g.101768045T>C | CA6746642 | GNPTAB | c.1400A>G (p.Asp467Gly) n.59A>G c.1319A>G (p.Asp440Gly) c.1184A>G (p.Asp395Gly) c.173A>G (p.Asp58Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.101768045T>G | CA386301730 | GNPTAB | c.1400A>C (p.Asp467Ala) n.59A>C c.1319A>C (p.Asp440Ala) c.1184A>C (p.Asp395Ala) c.173A>C (p.Asp58Ala) | |
| 12 | g.101768045T= | CA2058956966 | GNPTAB | c.1400A= (p.Asp467=) n.59A= c.1319A= (p.Asp440=) c.1184A= (p.Asp395=) c.173A= (p.Asp58=) | |
| 12 | g.101768045_101768046delinsTC | CA2058956967 | GNPTAB | c.1399_1400delinsGA (p.Asp467=) n.58_59delinsGA c.1318_1319delinsGA (p.Asp440=) c.1183_1184delinsGA (p.Asp395=) c.172_173delinsGA (p.Asp58=) | |
| 12 | g.101768046C>A | CA386301733 | GNPTAB | c.1399G>T (p.Asp467Tyr) n.58G>T c.1318G>T (p.Asp440Tyr) c.1183G>T (p.Asp395Tyr) c.172G>T (p.Asp58Tyr) | |
| 12 | g.101768046C= | CA2058956968 | GNPTAB | c.1399G= (p.Asp467=) n.58G= c.1318G= (p.Asp440=) c.1183G= (p.Asp395=) c.172G= (p.Asp58=) | |
| 12 | g.101768046C>G | CA386301736 | GNPTAB | c.1399G>C (p.Asp467His) n.58G>C c.1318G>C (p.Asp440His) c.1183G>C (p.Asp395His) c.172G>C (p.Asp58His) | dbSNP |
| 12 | g.101768046C>T | CA386301738 | GNPTAB | c.1399G>A (p.Asp467Asn) n.58G>A c.1318G>A (p.Asp440Asn) c.1183G>A (p.Asp395Asn) c.172G>A (p.Asp58Asn) | |
| 12 | g.101768049del | CA343349 | GNPTAB | c.1399del (p.Asp467IlefsTer?) c.1399del (p.Asp467IlefsTer8) n.58del c.1318del (p.Asp440IlefsTer?) c.1183del (p.Asp395IlefsTer?) c.172del (p.Asp58IlefsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.101768047C>A | CA481320357 | GNPTAB | c.1398G>T (p.Gly466=) n.57G>T c.1317G>T (p.Gly439=) c.1182G>T (p.Gly394=) c.171G>T (p.Gly57=) | |
| 12 | g.101768047C>G | CA481320359 | GNPTAB | c.1398G>C (p.Gly466=) n.57G>C c.1317G>C (p.Gly439=) c.1182G>C (p.Gly394=) c.171G>C (p.Gly57=) | |
| 12 | g.101768047C>T | CA481320358 | GNPTAB | c.1398G>A (p.Gly466=) n.57G>A c.1317G>A (p.Gly439=) c.1182G>A (p.Gly394=) c.171G>A (p.Gly57=) | gnomAD v4 |
| 12 | g.101768048C>A | CA386301742 | GNPTAB | c.1397G>T (p.Gly466Val) n.56G>T c.1316G>T (p.Gly439Val) c.1181G>T (p.Gly394Val) c.170G>T (p.Gly57Val) | |
| 12 | g.101768048C= | CA2058956969 | GNPTAB | c.1397G= (p.Gly466=) n.56G= c.1316G= (p.Gly439=) c.1181G= (p.Gly394=) c.170G= (p.Gly57=) | |
| 12 | g.101768048C>G | CA6746643 | GNPTAB | c.1397G>C (p.Gly466Ala) n.56G>C c.1316G>C (p.Gly439Ala) c.1181G>C (p.Gly394Ala) c.170G>C (p.Gly57Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.101768048C>T | CA386301745 | GNPTAB | c.1397G>A (p.Gly466Glu) n.56G>A c.1316G>A (p.Gly439Glu) c.1181G>A (p.Gly394Glu) c.170G>A (p.Gly57Glu) | gnomAD v4 |
| 12 | g.101768049C>A | CA386301750 | GNPTAB | c.1396G>T (p.Gly466Trp) n.55G>T c.1315G>T (p.Gly439Trp) c.1180G>T (p.Gly394Trp) c.169G>T (p.Gly57Trp) | |
| 12 | g.101768049C= | CA2058956970 | GNPTAB | c.1396G= (p.Gly466=) n.55G= c.1315G= (p.Gly439=) c.1180G= (p.Gly394=) c.169G= (p.Gly57=) | |
| 12 | g.101768049C>G | CA386301748 | GNPTAB | c.1396G>C (p.Gly466Arg) n.55G>C c.1315G>C (p.Gly439Arg) c.1180G>C (p.Gly394Arg) c.169G>C (p.Gly57Arg) | gnomAD v4 |
| 12 | g.101768049C>T | CA386301749 | GNPTAB | c.1396G>A (p.Gly466Arg) n.55G>A c.1315G>A (p.Gly439Arg) c.1180G>A (p.Gly394Arg) c.169G>A (p.Gly57Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.101768050A>C | CA481320368 | GNPTAB | c.1395T>G (p.Gly465=) n.54T>G c.1314T>G (p.Gly438=) c.1179T>G (p.Gly393=) c.168T>G (p.Gly56=) | |
| 12 | g.101768050A>G | CA481320369 | GNPTAB | c.1395T>C (p.Gly465=) n.54T>C c.1314T>C (p.Gly438=) c.1179T>C (p.Gly393=) c.168T>C (p.Gly56=) | gnomAD v4 |
| 12 | g.101768050A>T | CA481320370 | GNPTAB | c.1395T>A (p.Gly465=) n.54T>A c.1314T>A (p.Gly438=) c.1179T>A (p.Gly393=) c.168T>A (p.Gly56=) | |
| 12 | g.101768051C>A | CA6746644 | GNPTAB | c.1394G>T (p.Gly465Val) n.53G>T c.1313G>T (p.Gly438Val) c.1178G>T (p.Gly393Val) c.167G>T (p.Gly56Val) | dbSNP ExAC gnomAD v2 |
| 12 | g.101768051C= | CA2058956971 | GNPTAB | c.1394G= (p.Gly465=) n.53G= c.1313G= (p.Gly438=) c.1178G= (p.Gly393=) c.167G= (p.Gly56=) | |
| 12 | g.101768051C>G | CA386301753 | GNPTAB | c.1394G>C (p.Gly465Ala) n.53G>C c.1313G>C (p.Gly438Ala) c.1178G>C (p.Gly393Ala) c.167G>C (p.Gly56Ala) | |
| 12 | g.101768051C>T | CA386301755 | GNPTAB | c.1394G>A (p.Gly465Asp) n.53G>A c.1313G>A (p.Gly438Asp) c.1178G>A (p.Gly393Asp) c.167G>A (p.Gly56Asp) | |
| 12 | g.101768052C>A | CA386301757 | GNPTAB | c.1393G>T (p.Gly465Cys) n.52G>T c.1312G>T (p.Gly438Cys) c.1177G>T (p.Gly393Cys) c.166G>T (p.Gly56Cys) | |
| 12 | g.101768052C= | CA2058956972 | GNPTAB | c.1393G= (p.Gly465=) n.52G= c.1312G= (p.Gly438=) c.1177G= (p.Gly393=) c.166G= (p.Gly56=) | |
| 12 | g.101768052C>G | CA386301758 | GNPTAB | c.1393G>C (p.Gly465Arg) n.52G>C c.1312G>C (p.Gly438Arg) c.1177G>C (p.Gly393Arg) c.166G>C (p.Gly56Arg) | |
| 12 | g.101768052C>T | CA6746645 | GNPTAB | c.1393G>A (p.Gly465Ser) n.52G>A c.1312G>A (p.Gly438Ser) c.1177G>A (p.Gly393Ser) c.166G>A (p.Gly56Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.101768053A>C | CA386301760 | GNPTAB | c.1392T>G (p.Asp464Glu) n.51T>G c.1311T>G (p.Asp437Glu) c.1176T>G (p.Asp392Glu) c.165T>G (p.Asp55Glu) | |
| 12 | g.101768053A>G | CA481320377 | GNPTAB | c.1392T>C (p.Asp464=) n.51T>C c.1311T>C (p.Asp437=) c.1176T>C (p.Asp392=) c.165T>C (p.Asp55=) | |
| 12 | g.101768053A>T | CA386301762 | GNPTAB | c.1392T>A (p.Asp464Glu) n.51T>A c.1311T>A (p.Asp437Glu) c.1176T>A (p.Asp392Glu) c.165T>A (p.Asp55Glu) | |
| 12 | g.101768054T>A | CA386301764 | GNPTAB | c.1391A>T (p.Asp464Val) n.50A>T c.1310A>T (p.Asp437Val) c.1175A>T (p.Asp392Val) c.164A>T (p.Asp55Val) | gnomAD v4 |
| 12 | g.101768054T>C | CA386301766 | GNPTAB | c.1391A>G (p.Asp464Gly) n.50A>G c.1310A>G (p.Asp437Gly) c.1175A>G (p.Asp392Gly) c.164A>G (p.Asp55Gly) | |
| 12 | g.101768054T>G | CA386301768 | GNPTAB | c.1391A>C (p.Asp464Ala) n.50A>C c.1310A>C (p.Asp437Ala) c.1175A>C (p.Asp392Ala) c.164A>C (p.Asp55Ala) | |
| 12 | g.101768054_101768056del | CA912973323 | GNPTAB | c.1389_1391del (p.Trp463_Asp464delinsCys) n.48_50del c.1308_1310del (p.Trp436_Asp437delinsCys) c.1173_1175del (p.Trp391_Asp392delinsCys) c.162_164del (p.Trp54_Asp55delinsCys) | |
| 12 | g.101768054_101768056delinsTCC | CA2058956973 | GNPTAB | c.1389_1391delinsGGA (p.Trp463=) n.48_50delinsGGA c.1308_1310delinsGGA (p.Trp436=) c.1173_1175delinsGGA (p.Trp391=) c.162_164delinsGGA (p.Trp54=) | |
| 12 | g.101768055C>A | CA386301770 | GNPTAB | c.1390G>T (p.Asp464Tyr) n.49G>T c.1309G>T (p.Asp437Tyr) c.1174G>T (p.Asp392Tyr) c.163G>T (p.Asp55Tyr) | |
| 12 | g.101768055C>G | CA386301775 | GNPTAB | c.1390G>C (p.Asp464His) n.49G>C c.1309G>C (p.Asp437His) c.1174G>C (p.Asp392His) c.163G>C (p.Asp55His) |