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 |
|---|---|---|---|---|---|
| 11 | g.66850265_66850267del | CA1979879318 | PC | c.2674_2676del (p.Lys892del) n.290-199_290-197del c.*683_*685del (n.*683_*685del) c.*1150_*1152del (n.*1150_*1152del) c.34_36del (p.Lys12del) c.1153_1155del (p.Lys385del) c.1378_1380del (p.Lys460del) c.1309_1311del (p.Lys437del) | dbSNP |
| 11 | g.66850265C>A | CA381492384 | PC | c.2673G>T (p.Lys891Asn) n.290-200G>T c.*682G>T (n.*682G>T) c.*1149G>T (n.*1149G>T) c.33G>T (p.Lys11Asn) c.1152G>T (p.Lys384Asn) c.1377G>T (p.Lys459Asn) c.1308G>T (p.Lys436Asn) | |
| 11 | g.66850265C>G | CA381492386 | PC | c.2673G>C (p.Lys891Asn) n.290-200G>C c.*682G>C (n.*682G>C) c.*1149G>C (n.*1149G>C) c.33G>C (p.Lys11Asn) c.1152G>C (p.Lys384Asn) c.1377G>C (p.Lys459Asn) c.1308G>C (p.Lys436Asn) | |
| 11 | g.66850265C>T | CA475501320 | PC | c.2673G>A (p.Lys891=) n.290-200G>A c.*682G>A (n.*682G>A) c.*1149G>A (n.*1149G>A) c.33G>A (p.Lys11=) c.1152G>A (p.Lys384=) c.1377G>A (p.Lys459=) c.1308G>A (p.Lys436=) | gnomAD v4 |
| 11 | g.66850266T>A | CA381492389 | PC | c.2672A>T (p.Lys891Met) n.290-201A>T c.*681A>T (n.*681A>T) c.*1148A>T (n.*1148A>T) c.32A>T (p.Lys11Met) c.1151A>T (p.Lys384Met) c.1376A>T (p.Lys459Met) c.1307A>T (p.Lys436Met) | |
| 11 | g.66850266T>C | CA381492390 | PC | c.2672A>G (p.Lys891Arg) n.290-201A>G c.*681A>G (n.*681A>G) c.*1148A>G (n.*1148A>G) c.32A>G (p.Lys11Arg) c.1151A>G (p.Lys384Arg) c.1376A>G (p.Lys459Arg) c.1307A>G (p.Lys436Arg) | |
| 11 | g.66850266T>G | CA381492387 | PC | c.2672A>C (p.Lys891Thr) n.290-201A>C c.*681A>C (n.*681A>C) c.*1148A>C (n.*1148A>C) c.32A>C (p.Lys11Thr) c.1151A>C (p.Lys384Thr) c.1376A>C (p.Lys459Thr) c.1307A>C (p.Lys436Thr) | |
| 11 | g.66850267T>A | CA381492392 | PC | c.2671A>T (p.Lys891Ter) n.290-202A>T c.*680A>T (n.*680A>T) c.*1147A>T (n.*1147A>T) c.31A>T (p.Lys11Ter) c.1150A>T (p.Lys384Ter) c.1375A>T (p.Lys459Ter) c.1306A>T (p.Lys436Ter) | |
| 11 | g.66850267T>C | CA381492393 | PC | c.2671A>G (p.Lys891Glu) n.290-202A>G c.*680A>G (n.*680A>G) c.*1147A>G (n.*1147A>G) c.31A>G (p.Lys11Glu) c.1150A>G (p.Lys384Glu) c.1375A>G (p.Lys459Glu) c.1306A>G (p.Lys436Glu) | |
| 11 | g.66850267T>G | CA381492394 | PC | c.2671A>C (p.Lys891Gln) n.290-202A>C c.*680A>C (n.*680A>C) c.*1147A>C (n.*1147A>C) c.31A>C (p.Lys11Gln) c.1150A>C (p.Lys384Gln) c.1375A>C (p.Lys459Gln) c.1306A>C (p.Lys436Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.66850267T= | CA1979879327 | PC | c.2671A= (p.Lys891=) n.290-202A= c.*680A= (n.*680A=) c.*1147A= (n.*1147A=) c.31A= (p.Lys11=) c.1150A= (p.Lys384=) c.1375A= (p.Lys459=) c.1306A= (p.Lys436=) | |
| 11 | g.66850268G>A | CA475501323 | PC | c.2670C>T (p.Val890=) n.290-203C>T c.*679C>T (n.*679C>T) c.*1146C>T (n.*1146C>T) c.30C>T (p.Val10=) c.1149C>T (p.Val383=) c.1374C>T (p.Val458=) c.1305C>T (p.Val435=) | |
| 11 | g.66850268G>C | CA475501324 | PC | c.2670C>G (p.Val890=) n.290-203C>G c.*679C>G (n.*679C>G) c.*1146C>G (n.*1146C>G) c.30C>G (p.Val10=) c.1149C>G (p.Val383=) c.1374C>G (p.Val458=) c.1305C>G (p.Val435=) | |
| 11 | g.66850268G>T | CA475501325 | PC | c.2670C>A (p.Val890=) n.290-203C>A c.*679C>A (n.*679C>A) c.*1146C>A (n.*1146C>A) c.30C>A (p.Val10=) c.1149C>A (p.Val383=) c.1374C>A (p.Val458=) c.1305C>A (p.Val435=) | |
| 11 | g.66850269A>C | CA381492396 | PC | c.2669T>G (p.Val890Gly) n.290-204T>G c.*678T>G (n.*678T>G) c.*1145T>G (n.*1145T>G) c.29T>G (p.Val10Gly) c.1148T>G (p.Val383Gly) c.1373T>G (p.Val458Gly) c.1304T>G (p.Val435Gly) | |
| 11 | g.66850269A>G | CA381492397 | PC | c.2669T>C (p.Val890Ala) n.290-204T>C c.*678T>C (n.*678T>C) c.*1145T>C (n.*1145T>C) c.29T>C (p.Val10Ala) c.1148T>C (p.Val383Ala) c.1373T>C (p.Val458Ala) c.1304T>C (p.Val435Ala) | |
| 11 | g.66850269A>T | CA381492398 | PC | c.2669T>A (p.Val890Asp) n.290-204T>A c.*678T>A (n.*678T>A) c.*1145T>A (n.*1145T>A) c.29T>A (p.Val10Asp) c.1148T>A (p.Val383Asp) c.1373T>A (p.Val458Asp) c.1304T>A (p.Val435Asp) | dbSNP |
| 11 | g.66850270C>A | CA381492401 | PC | c.2668G>T (p.Val890Phe) n.290-205G>T c.*677G>T (n.*677G>T) c.*1144G>T (n.*1144G>T) c.28G>T (p.Val10Phe) c.1147G>T (p.Val383Phe) c.1372G>T (p.Val458Phe) c.1303G>T (p.Val435Phe) | ClinVar dbSNP |
| 11 | g.66850270C= | CA1979879332 | PC | c.2668G= (p.Val890=) n.290-205G= c.*677G= (n.*677G=) c.*1144G= (n.*1144G=) c.28G= (p.Val10=) c.1147G= (p.Val383=) c.1372G= (p.Val458=) c.1303G= (p.Val435=) | |
| 11 | g.66850270C>G | CA381492399 | PC | c.2668G>C (p.Val890Leu) n.290-205G>C c.*677G>C (n.*677G>C) c.*1144G>C (n.*1144G>C) c.28G>C (p.Val10Leu) c.1147G>C (p.Val383Leu) c.1372G>C (p.Val458Leu) c.1303G>C (p.Val435Leu) | |
| 11 | g.66850270C>T | CA381492400 | PC | c.2668G>A (p.Val890Ile) n.290-205G>A c.*677G>A (n.*677G>A) c.*1144G>A (n.*1144G>A) c.28G>A (p.Val10Ile) c.1147G>A (p.Val383Ile) c.1372G>A (p.Val458Ile) c.1303G>A (p.Val435Ile) | dbSNP gnomAD v4 |
| 11 | g.66850273_66850275del | CA2574890787 | PC | c.2666_2668del (p.Glu889del) n.290-207_290-205del c.*675_*677del (n.*675_*677del) c.*1142_*1144del (n.*1142_*1144del) c.26_28del (p.Glu9del) c.1145_1147del (p.Glu382del) c.1370_1372del (p.Glu457del) c.1301_1303del (p.Glu434del) | |
| 11 | g.66850271C>A | CA381492403 | PC | c.2667G>T (p.Glu889Asp) n.290-206G>T c.*676G>T (n.*676G>T) c.*1143G>T (n.*1143G>T) c.27G>T (p.Glu9Asp) c.1146G>T (p.Glu382Asp) c.1371G>T (p.Glu457Asp) c.1302G>T (p.Glu434Asp) | |
| 11 | g.66850271C= | CA1979879338 | PC | c.2667G= (p.Glu889=) n.290-206G= c.*676G= (n.*676G=) c.*1143G= (n.*1143G=) c.27G= (p.Glu9=) c.1146G= (p.Glu382=) c.1371G= (p.Glu457=) c.1302G= (p.Glu434=) | |
| 11 | g.66850271C>G | CA224122526 | PC | c.2667G>C (p.Glu889Asp) n.290-206G>C c.*676G>C (n.*676G>C) c.*1143G>C (n.*1143G>C) c.27G>C (p.Glu9Asp) c.1146G>C (p.Glu382Asp) c.1371G>C (p.Glu457Asp) c.1302G>C (p.Glu434Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.66850271C>T | CA475501327 | PC | c.2667G>A (p.Glu889=) n.290-206G>A c.*676G>A (n.*676G>A) c.*1143G>A (n.*1143G>A) c.27G>A (p.Glu9=) c.1146G>A (p.Glu382=) c.1371G>A (p.Glu457=) c.1302G>A (p.Glu434=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66850272T>A | CA381492404 | PC | c.2666A>T (p.Glu889Val) n.290-207A>T c.*675A>T (n.*675A>T) c.*1142A>T (n.*1142A>T) c.26A>T (p.Glu9Val) c.1145A>T (p.Glu382Val) c.1370A>T (p.Glu457Val) c.1301A>T (p.Glu434Val) | gnomAD v4 |
| 11 | g.66850272T>C | CA381492406 | PC | c.2666A>G (p.Glu889Gly) n.290-207A>G c.*675A>G (n.*675A>G) c.*1142A>G (n.*1142A>G) c.26A>G (p.Glu9Gly) c.1145A>G (p.Glu382Gly) c.1370A>G (p.Glu457Gly) c.1301A>G (p.Glu434Gly) | |
| 11 | g.66850272T>G | CA381492408 | PC | c.2666A>C (p.Glu889Ala) n.290-207A>C c.*675A>C (n.*675A>C) c.*1142A>C (n.*1142A>C) c.26A>C (p.Glu9Ala) c.1145A>C (p.Glu382Ala) c.1370A>C (p.Glu457Ala) c.1301A>C (p.Glu434Ala) | gnomAD v4 |
| 11 | g.66850273C>A | CA381492411 | PC | c.2665G>T (p.Glu889Ter) n.290-208G>T c.*674G>T (n.*674G>T) c.*1141G>T (n.*1141G>T) c.25G>T (p.Glu9Ter) c.1144G>T (p.Glu382Ter) c.1369G>T (p.Glu457Ter) c.1300G>T (p.Glu434Ter) | |
| 11 | g.66850273C= | CA1979879342 | PC | c.2665G= (p.Glu889=) n.290-208G= c.*674G= (n.*674G=) c.*1141G= (n.*1141G=) c.25G= (p.Glu9=) c.1144G= (p.Glu382=) c.1369G= (p.Glu457=) c.1300G= (p.Glu434=) | |
| 11 | g.66850273C>G | CA381492409 | PC | c.2665G>C (p.Glu889Gln) n.290-208G>C c.*674G>C (n.*674G>C) c.*1141G>C (n.*1141G>C) c.25G>C (p.Glu9Gln) c.1144G>C (p.Glu382Gln) c.1369G>C (p.Glu457Gln) c.1300G>C (p.Glu434Gln) | gnomAD v4 |
| 11 | g.66850273C>T | CA381492410 | PC | c.2665G>A (p.Glu889Lys) n.290-208G>A c.*674G>A (n.*674G>A) c.*1141G>A (n.*1141G>A) c.25G>A (p.Glu9Lys) c.1144G>A (p.Glu382Lys) c.1369G>A (p.Glu457Lys) c.1300G>A (p.Glu434Lys) | dbSNP |
| 11 | g.66850274C>A | CA381492413 | PC | c.2664G>T (p.Lys888Asn) n.290-209G>T c.*673G>T (n.*673G>T) c.*1140G>T (n.*1140G>T) c.24G>T (p.Lys8Asn) c.1143G>T (p.Lys381Asn) c.1368G>T (p.Lys456Asn) c.1299G>T (p.Lys433Asn) | |
| 11 | g.66850274C>G | CA381492415 | PC | c.2664G>C (p.Lys888Asn) n.290-209G>C c.*673G>C (n.*673G>C) c.*1140G>C (n.*1140G>C) c.24G>C (p.Lys8Asn) c.1143G>C (p.Lys381Asn) c.1368G>C (p.Lys456Asn) c.1299G>C (p.Lys433Asn) | |
| 11 | g.66850274C>T | CA475501331 | PC | c.2664G>A (p.Lys888=) n.290-209G>A c.*673G>A (n.*673G>A) c.*1140G>A (n.*1140G>A) c.24G>A (p.Lys8=) c.1143G>A (p.Lys381=) c.1368G>A (p.Lys456=) c.1299G>A (p.Lys433=) | |
| 11 | g.66850275T>A | CA381492417 | PC | c.2663A>T (p.Lys888Met) n.290-210A>T c.*672A>T (n.*672A>T) c.*1139A>T (n.*1139A>T) c.23A>T (p.Lys8Met) c.1142A>T (p.Lys381Met) c.1367A>T (p.Lys456Met) c.1298A>T (p.Lys433Met) | |
| 11 | g.66850275T>C | CA381492418 | PC | c.2663A>G (p.Lys888Arg) n.290-210A>G c.*672A>G (n.*672A>G) c.*1139A>G (n.*1139A>G) c.23A>G (p.Lys8Arg) c.1142A>G (p.Lys381Arg) c.1367A>G (p.Lys456Arg) c.1298A>G (p.Lys433Arg) | gnomAD v4 |
| 11 | g.66850275T>G | CA381492419 | PC | c.2663A>C (p.Lys888Thr) n.290-210A>C c.*672A>C (n.*672A>C) c.*1139A>C (n.*1139A>C) c.23A>C (p.Lys8Thr) c.1142A>C (p.Lys381Thr) c.1367A>C (p.Lys456Thr) c.1298A>C (p.Lys433Thr) | |
| 11 | g.66850276T>A | CA381492420 | PC | c.2662A>T (p.Lys888Ter) n.290-211A>T c.*671A>T (n.*671A>T) c.*1138A>T (n.*1138A>T) c.22A>T (p.Lys8Ter) c.1141A>T (p.Lys381Ter) c.1366A>T (p.Lys456Ter) c.1297A>T (p.Lys433Ter) | |
| 11 | g.66850276T>C | CA381492421 | PC | c.2662A>G (p.Lys888Glu) n.290-211A>G c.*671A>G (n.*671A>G) c.*1138A>G (n.*1138A>G) c.22A>G (p.Lys8Glu) c.1141A>G (p.Lys381Glu) c.1366A>G (p.Lys456Glu) c.1297A>G (p.Lys433Glu) | gnomAD v4 |
| 11 | g.66850276T>G | CA381492422 | PC | c.2662A>C (p.Lys888Gln) n.290-211A>C c.*671A>C (n.*671A>C) c.*1138A>C (n.*1138A>C) c.22A>C (p.Lys8Gln) c.1141A>C (p.Lys381Gln) c.1366A>C (p.Lys456Gln) c.1297A>C (p.Lys433Gln) | |
| 11 | g.66850277G>A | CA475501334 | PC | c.2661C>T (p.Phe887=) n.290-212C>T c.*670C>T (n.*670C>T) c.*1137C>T (n.*1137C>T) c.21C>T (p.Phe7=) c.1140C>T (p.Phe380=) c.1365C>T (p.Phe455=) c.1296C>T (p.Phe432=) | ClinVar |
| 11 | g.66850277G>C | CA381492424 | PC | c.2661C>G (p.Phe887Leu) n.290-212C>G c.*670C>G (n.*670C>G) c.*1137C>G (n.*1137C>G) c.21C>G (p.Phe7Leu) c.1140C>G (p.Phe380Leu) c.1365C>G (p.Phe455Leu) c.1296C>G (p.Phe432Leu) | gnomAD v4 |
| 11 | g.66850277G>T | CA381492425 | PC | c.2661C>A (p.Phe887Leu) n.290-212C>A c.*670C>A (n.*670C>A) c.*1137C>A (n.*1137C>A) c.21C>A (p.Phe7Leu) c.1140C>A (p.Phe380Leu) c.1365C>A (p.Phe455Leu) c.1296C>A (p.Phe432Leu) | |
| 11 | g.66850278A>C | CA381492426 | PC | c.2660T>G (p.Phe887Cys) n.290-213T>G c.*669T>G (n.*669T>G) c.*1136T>G (n.*1136T>G) c.20T>G (p.Phe7Cys) c.1139T>G (p.Phe380Cys) c.1364T>G (p.Phe455Cys) c.1295T>G (p.Phe432Cys) | |
| 11 | g.66850278A>G | CA381492427 | PC | c.2660T>C (p.Phe887Ser) n.290-213T>C c.*669T>C (n.*669T>C) c.*1136T>C (n.*1136T>C) c.20T>C (p.Phe7Ser) c.1139T>C (p.Phe380Ser) c.1364T>C (p.Phe455Ser) c.1295T>C (p.Phe432Ser) | |
| 11 | g.66850278A>T | CA381492428 | PC | c.2660T>A (p.Phe887Tyr) n.290-213T>A c.*669T>A (n.*669T>A) c.*1136T>A (n.*1136T>A) c.20T>A (p.Phe7Tyr) c.1139T>A (p.Phe380Tyr) c.1364T>A (p.Phe455Tyr) c.1295T>A (p.Phe432Tyr) | |
| 11 | g.66850279A>C | CA381492434 | PC | c.2659T>G (p.Phe887Val) n.290-214T>G c.*668T>G (n.*668T>G) c.*1135T>G (n.*1135T>G) c.19T>G (p.Phe7Val) c.1138T>G (p.Phe380Val) c.1363T>G (p.Phe455Val) c.1294T>G (p.Phe432Val) | |
| 11 | g.66850279A>G | CA381492430 | PC | c.2659T>C (p.Phe887Leu) n.290-214T>C c.*668T>C (n.*668T>C) c.*1135T>C (n.*1135T>C) c.19T>C (p.Phe7Leu) c.1138T>C (p.Phe380Leu) c.1363T>C (p.Phe455Leu) c.1294T>C (p.Phe432Leu) |