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 |
|---|---|---|---|---|---|
| 7 | g.107919046_107919053delinsTTGGAATA | CA1732860726 | DLD | c.1411_1418delinsTTGGAATA (p.Leu471=) c.*1085_*1092delinsTTGGAATA (n.*1085_*1092delinsTTGGAATA) c.1267_1274delinsTTGGAATA (p.Leu423=) c.1342_1349delinsTTGGAATA (p.Leu448=) c.1114_1121delinsTTGGAATA (p.Leu372=) | |
| 7 | g.107919051_107919057del | CA831210899 | DLD | c.1416_1422del (p.Tyr473HisfsTer6) c.*1090_*1096del (n.*1090_*1096del) c.1272_1278del (p.Tyr425HisfsTer6) c.1347_1353del (p.Tyr450HisfsTer6) c.1119_1125del (p.Tyr374HisfsTer6) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107919048G>A | CA457109802 | DLD | c.1413G>A (p.Leu471=) c.*1087G>A (n.*1087G>A) c.1269G>A (p.Leu423=) c.1344G>A (p.Leu448=) c.1116G>A (p.Leu372=) | gnomAD v4 COSMIC COSMIC |
| 7 | g.107919048G>C | CA368859455 | DLD | c.1413G>C (p.Leu471Phe) c.*1087G>C (n.*1087G>C) c.1269G>C (p.Leu423Phe) c.1344G>C (p.Leu448Phe) c.1116G>C (p.Leu372Phe) | |
| 7 | g.107919048G>T | CA368859456 | DLD | c.1413G>T (p.Leu471Phe) c.*1087G>T (n.*1087G>T) c.1269G>T (p.Leu423Phe) c.1344G>T (p.Leu448Phe) c.1116G>T (p.Leu372Phe) | |
| 7 | g.107919049G>A | CA368859457 | DLD | c.1414G>A (p.Glu472Lys) c.*1088G>A (n.*1088G>A) c.1270G>A (p.Glu424Lys) c.1345G>A (p.Glu449Lys) c.1117G>A (p.Glu373Lys) | |
| 7 | g.107919049G>C | CA368859458 | DLD | c.1414G>C (p.Glu472Gln) c.*1088G>C (n.*1088G>C) c.1270G>C (p.Glu424Gln) c.1345G>C (p.Glu449Gln) c.1117G>C (p.Glu373Gln) | |
| 7 | g.107919049G>T | CA368859459 | DLD | c.1414G>T (p.Glu472Ter) c.*1088G>T (n.*1088G>T) c.1270G>T (p.Glu424Ter) c.1345G>T (p.Glu449Ter) c.1117G>T (p.Glu373Ter) | |
| 7 | g.107919050A>C | CA368859460 | DLD | c.1415A>C (p.Glu472Ala) c.*1089A>C (n.*1089A>C) c.1271A>C (p.Glu424Ala) c.1346A>C (p.Glu449Ala) c.1118A>C (p.Glu373Ala) | |
| 7 | g.107919050A>G | CA368859461 | DLD | c.1415A>G (p.Glu472Gly) c.*1089A>G (n.*1089A>G) c.1271A>G (p.Glu424Gly) c.1346A>G (p.Glu449Gly) c.1118A>G (p.Glu373Gly) | |
| 7 | g.107919050A>T | CA368859462 | DLD | c.1415A>T (p.Glu472Val) c.*1089A>T (n.*1089A>T) c.1271A>T (p.Glu424Val) c.1346A>T (p.Glu449Val) c.1118A>T (p.Glu373Val) | |
| 7 | g.107919051A>C | CA368859463 | DLD | c.1416A>C (p.Glu472Asp) c.*1090A>C (n.*1090A>C) c.1272A>C (p.Glu424Asp) c.1347A>C (p.Glu449Asp) c.1119A>C (p.Glu373Asp) | |
| 7 | g.107919051A>G | CA457109803 | DLD | c.1416A>G (p.Glu472=) c.*1090A>G (n.*1090A>G) c.1272A>G (p.Glu424=) c.1347A>G (p.Glu449=) c.1119A>G (p.Glu373=) | ClinVar |
| 7 | g.107919051A>T | CA368859464 | DLD | c.1416A>T (p.Glu472Asp) c.*1090A>T (n.*1090A>T) c.1272A>T (p.Glu424Asp) c.1347A>T (p.Glu449Asp) c.1119A>T (p.Glu373Asp) | |
| 7 | g.107919052T>A | CA368859465 | DLD | c.1417T>A (p.Tyr473Asn) c.*1091T>A (n.*1091T>A) c.1273T>A (p.Tyr425Asn) c.1348T>A (p.Tyr450Asn) c.1120T>A (p.Tyr374Asn) | |
| 7 | g.107919052T>C | CA368859466 | DLD | c.1417T>C (p.Tyr473His) c.*1091T>C (n.*1091T>C) c.1273T>C (p.Tyr425His) c.1348T>C (p.Tyr450His) c.1120T>C (p.Tyr374His) | |
| 7 | g.107919052T>G | CA4434703 | DLD | c.1417T>G (p.Tyr473Asp) c.*1091T>G (n.*1091T>G) c.1273T>G (p.Tyr425Asp) c.1348T>G (p.Tyr450Asp) c.1120T>G (p.Tyr374Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107919052T= | CA1732860727 | DLD | c.1417T= (p.Tyr473=) c.*1091T= (n.*1091T=) c.1273T= (p.Tyr425=) c.1348T= (p.Tyr450=) c.1120T= (p.Tyr374=) | |
| 7 | g.107919053A= | CA1732860728 | DLD | c.1418A= (p.Tyr473=) c.*1092A= (n.*1092A=) c.1274A= (p.Tyr425=) c.1349A= (p.Tyr450=) c.1121A= (p.Tyr374=) | |
| 7 | g.107919053A>C | CA368859467 | DLD | c.1418A>C (p.Tyr473Ser) c.*1092A>C (n.*1092A>C) c.1274A>C (p.Tyr425Ser) c.1349A>C (p.Tyr450Ser) c.1121A>C (p.Tyr374Ser) | |
| 7 | g.107919053A>G | CA368859468 | DLD | c.1418A>G (p.Tyr473Cys) c.*1092A>G (n.*1092A>G) c.1274A>G (p.Tyr425Cys) c.1349A>G (p.Tyr450Cys) c.1121A>G (p.Tyr374Cys) | dbSNP gnomAD v4 |
| 7 | g.107919053A>T | CA368859469 | DLD | c.1418A>T (p.Tyr473Phe) c.*1092A>T (n.*1092A>T) c.1274A>T (p.Tyr425Phe) c.1349A>T (p.Tyr450Phe) c.1121A>T (p.Tyr374Phe) | |
| 7 | g.107919054T>A | CA368859470 | DLD | c.1419T>A (p.Tyr473Ter) c.*1093T>A (n.*1093T>A) c.1275T>A (p.Tyr425Ter) c.1350T>A (p.Tyr450Ter) c.1122T>A (p.Tyr374Ter) | |
| 7 | g.107919054T>C | CA457109804 | DLD | c.1419T>C (p.Tyr473=) c.*1093T>C (n.*1093T>C) c.1275T>C (p.Tyr425=) c.1350T>C (p.Tyr450=) c.1122T>C (p.Tyr374=) | gnomAD v4 |
| 7 | g.107919054T>G | CA368859471 | DLD | c.1419T>G (p.Tyr473Ter) c.*1093T>G (n.*1093T>G) c.1275T>G (p.Tyr425Ter) c.1350T>G (p.Tyr450Ter) c.1122T>G (p.Tyr374Ter) | dbSNP |
| 7 | g.107919054T= | CA1732860730 | DLD | c.1419T= (p.Tyr473=) c.*1093T= (n.*1093T=) c.1275T= (p.Tyr425=) c.1350T= (p.Tyr450=) c.1122T= (p.Tyr374=) | |
| 7 | g.107919054_107919055del | CA913111802 | DLD | c.1419_1420del (p.Tyr473Ter) c.*1093_*1094del (n.*1093_*1094del) c.1275_1276del (p.Tyr425Ter) c.1350_1351del (p.Tyr450Ter) c.1122_1123del (p.Tyr374Ter) | |
| 7 | g.107919054_107919055delinsTG | CA1732860729 | DLD | c.1419_1420delinsTG (p.Tyr473=) c.*1093_*1094delinsTG (n.*1093_*1094delinsTG) c.1275_1276delinsTG (p.Tyr425=) c.1350_1351delinsTG (p.Tyr450=) c.1122_1123delinsTG (p.Tyr374=) | |
| 7 | g.107919055G>A | CA368859472 | DLD | c.1420G>A (p.Gly474Arg) c.*1094G>A (n.*1094G>A) c.1276G>A (p.Gly426Arg) c.1351G>A (p.Gly451Arg) c.1123G>A (p.Gly375Arg) | |
| 7 | g.107919055G>C | CA368859473 | DLD | c.1420G>C (p.Gly474Arg) c.*1094G>C (n.*1094G>C) c.1276G>C (p.Gly426Arg) c.1351G>C (p.Gly451Arg) c.1123G>C (p.Gly375Arg) | |
| 7 | g.107919055G>T | CA368859474 | DLD | c.1420G>T (p.Gly474Ter) c.*1094G>T (n.*1094G>T) c.1276G>T (p.Gly426Ter) c.1351G>T (p.Gly451Ter) c.1123G>T (p.Gly375Ter) | |
| 7 | g.107919056del | CA658821776 | DLD | c.1421del (p.Gly474GlufsTer7) c.*1095del (n.*1095del) c.1277del (p.Gly426GlufsTer7) c.1352del (p.Gly451GlufsTer7) c.1124del (p.Gly375GlufsTer7) | ClinVar dbSNP |
| 7 | g.107919056G>A | CA368859477 | DLD | c.1421G>A (p.Gly474Glu) c.*1095G>A (n.*1095G>A) c.1277G>A (p.Gly426Glu) c.1352G>A (p.Gly451Glu) c.1124G>A (p.Gly375Glu) | |
| 7 | g.107919056G>C | CA368859476 | DLD | c.1421G>C (p.Gly474Ala) c.*1095G>C (n.*1095G>C) c.1277G>C (p.Gly426Ala) c.1352G>C (p.Gly451Ala) c.1124G>C (p.Gly375Ala) | |
| 7 | g.107919056G>T | CA368859475 | DLD | c.1421G>T (p.Gly474Val) c.*1095G>T (n.*1095G>T) c.1277G>T (p.Gly426Val) c.1352G>T (p.Gly451Val) c.1124G>T (p.Gly375Val) | |
| 7 | g.107919057A= | CA1732860731 | DLD | c.1422A= (p.Gly474=) c.*1096A= (n.*1096A=) c.1278A= (p.Gly426=) c.1353A= (p.Gly451=) c.1125A= (p.Gly375=) | |
| 7 | g.107919057A>C | CA290613 | DLD | c.1422A>C (p.Gly474=) c.*1096A>C (n.*1096A>C) c.1278A>C (p.Gly426=) c.1353A>C (p.Gly451=) c.1125A>C (p.Gly375=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107919057A>G | CA457109805 | DLD | c.1422A>G (p.Gly474=) c.*1096A>G (n.*1096A>G) c.1278A>G (p.Gly426=) c.1353A>G (p.Gly451=) c.1125A>G (p.Gly375=) | ClinVar |
| 7 | g.107919057A>T | CA457109806 | DLD | c.1422A>T (p.Gly474=) c.*1096A>T (n.*1096A>T) c.1278A>T (p.Gly426=) c.1353A>T (p.Gly451=) c.1125A>T (p.Gly375=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107919058G>A | CA368859480 | DLD | c.1423G>A (p.Ala475Thr) c.*1097G>A (n.*1097G>A) c.1279G>A (p.Ala427Thr) c.1354G>A (p.Ala452Thr) c.1126G>A (p.Ala376Thr) | COSMIC COSMIC |
| 7 | g.107919058G>C | CA368859478 | DLD | c.1423G>C (p.Ala475Pro) c.*1097G>C (n.*1097G>C) c.1279G>C (p.Ala427Pro) c.1354G>C (p.Ala452Pro) c.1126G>C (p.Ala376Pro) | |
| 7 | g.107919058G>T | CA368859479 | DLD | c.1423G>T (p.Ala475Ser) c.*1097G>T (n.*1097G>T) c.1279G>T (p.Ala427Ser) c.1354G>T (p.Ala452Ser) c.1126G>T (p.Ala376Ser) | |
| 7 | g.107919059C>A | CA368859481 | DLD | c.1424C>A (p.Ala475Glu) c.*1098C>A (n.*1098C>A) c.1280C>A (p.Ala427Glu) c.1355C>A (p.Ala452Glu) c.1127C>A (p.Ala376Glu) | |
| 7 | g.107919059C= | CA1732860732 | DLD | c.1424C= (p.Ala475=) c.*1098C= (n.*1098C=) c.1280C= (p.Ala427=) c.1355C= (p.Ala452=) c.1127C= (p.Ala376=) | |
| 7 | g.107919059C>G | CA368859482 | DLD | c.1424C>G (p.Ala475Gly) c.*1098C>G (n.*1098C>G) c.1280C>G (p.Ala427Gly) c.1355C>G (p.Ala452Gly) c.1127C>G (p.Ala376Gly) | |
| 7 | g.107919059C>T | CA368859483 | DLD | c.1424C>T (p.Ala475Val) c.*1098C>T (n.*1098C>T) c.1280C>T (p.Ala427Val) c.1355C>T (p.Ala452Val) c.1127C>T (p.Ala376Val) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107919060A= | CA1732860733 | DLD | c.1425A= (p.Ala475=) c.*1099A= (n.*1099A=) c.1281A= (p.Ala427=) c.1356A= (p.Ala452=) c.1128A= (p.Ala376=) | |
| 7 | g.107919060A>C | CA457109810 | DLD | c.1425A>C (p.Ala475=) c.*1099A>C (n.*1099A>C) c.1281A>C (p.Ala427=) c.1356A>C (p.Ala452=) c.1128A>C (p.Ala376=) | |
| 7 | g.107919060A>G | CA457109808 | DLD | c.1425A>G (p.Ala475=) c.*1099A>G (n.*1099A>G) c.1281A>G (p.Ala427=) c.1356A>G (p.Ala452=) c.1128A>G (p.Ala376=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107919060A>T | CA457109807 | DLD | c.1425A>T (p.Ala475=) c.*1099A>T (n.*1099A>T) c.1281A>T (p.Ala427=) c.1356A>T (p.Ala452=) c.1128A>T (p.Ala376=) |