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.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.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=) | |
| 7 | g.107919061T>A | CA368859486 | DLD | c.1426T>A (p.Ser476Thr) c.*1100T>A (n.*1100T>A) c.1282T>A (p.Ser428Thr) c.1357T>A (p.Ser453Thr) c.1129T>A (p.Ser377Thr) | |
| 7 | g.107919061T>C | CA368859485 | DLD | c.1426T>C (p.Ser476Pro) c.*1100T>C (n.*1100T>C) c.1282T>C (p.Ser428Pro) c.1357T>C (p.Ser453Pro) c.1129T>C (p.Ser377Pro) | |
| 7 | g.107919061T>G | CA368859484 | DLD | c.1426T>G (p.Ser476Ala) c.*1100T>G (n.*1100T>G) c.1282T>G (p.Ser428Ala) c.1357T>G (p.Ser453Ala) c.1129T>G (p.Ser377Ala) | |
| 7 | g.107919062C>A | CA4434705 | DLD | c.1427C>A (p.Ser476Tyr) c.*1101C>A (n.*1101C>A) c.1283C>A (p.Ser428Tyr) c.1358C>A (p.Ser453Tyr) c.1130C>A (p.Ser377Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107919062C= | CA1732860734 | DLD | c.1427C= (p.Ser476=) c.*1101C= (n.*1101C=) c.1283C= (p.Ser428=) c.1358C= (p.Ser453=) c.1130C= (p.Ser377=) | |
| 7 | g.107919062C>G | CA4434704 | DLD | c.1427C>G (p.Ser476Cys) c.*1101C>G (n.*1101C>G) c.1283C>G (p.Ser428Cys) c.1358C>G (p.Ser453Cys) c.1130C>G (p.Ser377Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107919062C>T | CA368859487 | DLD | c.1427C>T (p.Ser476Phe) c.*1101C>T (n.*1101C>T) c.1283C>T (p.Ser428Phe) c.1358C>T (p.Ser453Phe) c.1130C>T (p.Ser377Phe) | |
| 7 | g.107919063C>A | CA457109811 | DLD | c.1428C>A (p.Ser476=) c.*1102C>A (n.*1102C>A) c.1284C>A (p.Ser428=) c.1359C>A (p.Ser453=) c.1131C>A (p.Ser377=) | |
| 7 | g.107919063C= | CA1732860736 | DLD | c.1428C= (p.Ser476=) c.*1102C= (n.*1102C=) c.1284C= (p.Ser428=) c.1359C= (p.Ser453=) c.1131C= (p.Ser377=) | |
| 7 | g.107919063C>G | CA457109812 | DLD | c.1428C>G (p.Ser476=) c.*1102C>G (n.*1102C>G) c.1284C>G (p.Ser428=) c.1359C>G (p.Ser453=) c.1131C>G (p.Ser377=) | |
| 7 | g.107919063C>T | CA457109813 | DLD | c.1428C>T (p.Ser476=) c.*1102C>T (n.*1102C>T) c.1284C>T (p.Ser428=) c.1359C>T (p.Ser453=) c.1131C>T (p.Ser377=) | ClinVar dbSNP |
| 7 | g.107919063_107919067del | CA913111803 | DLD | c.1428_1432del (p.Cys477ArgfsTer4) c.*1102_*1106del (n.*1102_*1106del) c.1284_1288del (p.Cys429ArgfsTer4) c.1359_1363del (p.Cys454ArgfsTer4) c.1131_1135del (p.Cys378ArgfsTer4) | |
| 7 | g.107919063_107919067delinsCTGTG | CA1732860735 | DLD | c.1428_1432delinsCTGTG (p.Ser476=) c.*1102_*1106delinsCTGTG (n.*1102_*1106delinsCTGTG) c.1284_1288delinsCTGTG (p.Ser428=) c.1359_1363delinsCTGTG (p.Ser453=) c.1131_1135delinsCTGTG (p.Ser377=) | |
| 7 | g.107919064T>A | CA368859488 | DLD | c.1429T>A (p.Cys477Ser) c.*1103T>A (n.*1103T>A) c.1285T>A (p.Cys429Ser) c.1360T>A (p.Cys454Ser) c.1132T>A (p.Cys378Ser) | |
| 7 | g.107919064T>C | CA368859489 | DLD | c.1429T>C (p.Cys477Arg) c.*1103T>C (n.*1103T>C) c.1285T>C (p.Cys429Arg) c.1360T>C (p.Cys454Arg) c.1132T>C (p.Cys378Arg) | |
| 7 | g.107919064T>G | CA368859490 | DLD | c.1429T>G (p.Cys477Gly) c.*1103T>G (n.*1103T>G) c.1285T>G (p.Cys429Gly) c.1360T>G (p.Cys454Gly) c.1132T>G (p.Cys378Gly) | |
| 7 | g.107919064_107919067del | CA658821777 | DLD | c.1429_1432del (p.Cys477LysfsTer3) c.*1103_*1106del (n.*1103_*1106del) c.1285_1288del (p.Cys429LysfsTer3) c.1360_1363del (p.Cys454LysfsTer3) c.1132_1135del (p.Cys378LysfsTer3) | ClinVar dbSNP |
| 7 | g.107919066_107919067del | CA2559541351 | DLD | c.1431_1432del (p.Cys477Ter) c.*1105_*1106del (n.*1105_*1106del) c.1287_1288del (p.Cys429Ter) c.1362_1363del (p.Cys454Ter) c.1134_1135del (p.Cys378Ter) | |
| 7 | g.107919065G>A | CA368859493 | DLD | c.1430G>A (p.Cys477Tyr) c.*1104G>A (n.*1104G>A) c.1286G>A (p.Cys429Tyr) c.1361G>A (p.Cys454Tyr) c.1133G>A (p.Cys378Tyr) | dbSNP gnomAD v4 |
| 7 | g.107919065G>C | CA368859491 | DLD | c.1430G>C (p.Cys477Ser) c.*1104G>C (n.*1104G>C) c.1286G>C (p.Cys429Ser) c.1361G>C (p.Cys454Ser) c.1133G>C (p.Cys378Ser) | |
| 7 | g.107919065G= | CA1732860737 | DLD | c.1430G= (p.Cys477=) c.*1104G= (n.*1104G=) c.1286G= (p.Cys429=) c.1361G= (p.Cys454=) c.1133G= (p.Cys378=) | |
| 7 | g.107919065G>T | CA368859492 | DLD | c.1430G>T (p.Cys477Phe) c.*1104G>T (n.*1104G>T) c.1286G>T (p.Cys429Phe) c.1361G>T (p.Cys454Phe) c.1133G>T (p.Cys378Phe) | |
| 7 | g.107919066T>A | CA368859494 | DLD | c.1431T>A (p.Cys477Ter) c.*1105T>A (n.*1105T>A) c.1287T>A (p.Cys429Ter) c.1362T>A (p.Cys454Ter) c.1134T>A (p.Cys378Ter) | |
| 7 | g.107919066T>C | CA457109814 | DLD | c.1431T>C (p.Cys477=) c.*1105T>C (n.*1105T>C) c.1287T>C (p.Cys429=) c.1362T>C (p.Cys454=) c.1134T>C (p.Cys378=) | |
| 7 | g.107919066T>G | CA368859495 | DLD | c.1431T>G (p.Cys477Trp) c.*1105T>G (n.*1105T>G) c.1287T>G (p.Cys429Trp) c.1362T>G (p.Cys454Trp) c.1134T>G (p.Cys378Trp) | |
| 7 | g.107919067G>A | CA368859496 | DLD | c.1432G>A (p.Glu478Lys) c.*1106G>A (n.*1106G>A) c.1288G>A (p.Glu430Lys) c.1363G>A (p.Glu455Lys) c.1135G>A (p.Glu379Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107919067G>C | CA368859497 | DLD | c.1432G>C (p.Glu478Gln) c.*1106G>C (n.*1106G>C) c.1288G>C (p.Glu430Gln) c.1363G>C (p.Glu455Gln) c.1135G>C (p.Glu379Gln) | |
| 7 | g.107919067G= | CA1732860738 | DLD | c.1432G= (p.Glu478=) c.*1106G= (n.*1106G=) c.1288G= (p.Glu430=) c.1363G= (p.Glu455=) c.1135G= (p.Glu379=) | |
| 7 | g.107919067G>T | CA368859498 | DLD | c.1432G>T (p.Glu478Ter) c.*1106G>T (n.*1106G>T) c.1288G>T (p.Glu430Ter) c.1363G>T (p.Glu455Ter) c.1135G>T (p.Glu379Ter) | |
| 7 | g.107919068A= | CA1732860739 | DLD | c.1433A= (p.Glu478=) c.*1107A= (n.*1107A=) c.1289A= (p.Glu430=) c.1364A= (p.Glu455=) c.1136A= (p.Glu379=) |