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.107919000_107919008del | CA2684460460 | DLD | c.1375-10_1375-2del (n.1375-10_1375-2del) c.*1049-10_*1049-2del (n.*1049-10_*1049-2del) c.1231-10_1231-2del (n.1231-10_1231-2del) c.1306-10_1306-2del (n.1306-10_1306-2del) c.1078-10_1078-2del (n.1078-10_1078-2del) | gnomAD v4 |
| 7 | g.107919001A>G | CA2684460466 | DLD | c.1375-9A>G (n.1375-9A>G) c.*1049-9A>G (n.*1049-9A>G) c.1231-9A>G (n.1231-9A>G) c.1306-9A>G (n.1306-9A>G) c.1078-9A>G (n.1078-9A>G) | gnomAD v4 |
| 7 | g.107919004_107919005del | CA2684460471 | DLD | c.1375-6_1375-5del (n.1375-6_1375-5del) c.*1049-6_*1049-5del (n.*1049-6_*1049-5del) c.1231-6_1231-5del (n.1231-6_1231-5del) c.1306-6_1306-5del (n.1306-6_1306-5del) c.1078-6_1078-5del (n.1078-6_1078-5del) | gnomAD v4 |
| 7 | g.107919003T>C | CA1732860712 | DLD | c.1375-7T>C (n.1375-7T>C) c.*1049-7T>C (n.*1049-7T>C) c.1231-7T>C (n.1231-7T>C) c.1306-7T>C (n.1306-7T>C) c.1078-7T>C (n.1078-7T>C) | dbSNP |
| 7 | g.107919003T= | CA1732860711 | DLD | c.1375-7T= (n.1375-7T=) c.*1049-7T= (n.*1049-7T=) c.1231-7T= (n.1231-7T=) c.1306-7T= (n.1306-7T=) c.1078-7T= (n.1078-7T=) | |
| 7 | g.107919004T>C | CA2684460474 | DLD | c.1375-6T>C (n.1375-6T>C) c.*1049-6T>C (n.*1049-6T>C) c.1231-6T>C (n.1231-6T>C) c.1306-6T>C (n.1306-6T>C) c.1078-6T>C (n.1078-6T>C) | gnomAD v4 |
| 7 | g.107919004T>G | CA2684460477 | DLD | c.1375-6T>G (n.1375-6T>G) c.*1049-6T>G (n.*1049-6T>G) c.1231-6T>G (n.1231-6T>G) c.1306-6T>G (n.1306-6T>G) c.1078-6T>G (n.1078-6T>G) | gnomAD v4 |
| 7 | g.107919008A>C | CA368859367 | DLD | c.1375-2A>C (n.1375-2A>C) c.*1049-2A>C (n.*1049-2A>C) c.1231-2A>C (n.1231-2A>C) c.1306-2A>C (n.1306-2A>C) c.1078-2A>C (n.1078-2A>C) | |
| 7 | g.107919008A>G | CA368859368 | DLD | c.1375-2A>G (n.1375-2A>G) c.*1049-2A>G (n.*1049-2A>G) c.1231-2A>G (n.1231-2A>G) c.1306-2A>G (n.1306-2A>G) c.1078-2A>G (n.1078-2A>G) | |
| 7 | g.107919008A>T | CA368859369 | DLD | c.1375-2A>T (n.1375-2A>T) c.*1049-2A>T (n.*1049-2A>T) c.1231-2A>T (n.1231-2A>T) c.1306-2A>T (n.1306-2A>T) c.1078-2A>T (n.1078-2A>T) | |
| 7 | g.107919009G>A | CA368859370 | DLD | c.1375-1G>A (n.1375-1G>A) c.*1049-1G>A (n.*1049-1G>A) c.1231-1G>A (n.1231-1G>A) c.1306-1G>A (n.1306-1G>A) c.1078-1G>A (n.1078-1G>A) | |
| 7 | g.107919009G>C | CA368859371 | DLD | c.1375-1G>C (n.1375-1G>C) c.*1049-1G>C (n.*1049-1G>C) c.1231-1G>C (n.1231-1G>C) c.1306-1G>C (n.1306-1G>C) c.1078-1G>C (n.1078-1G>C) | |
| 7 | g.107919009G>T | CA368859372 | DLD | c.1375-1G>T (n.1375-1G>T) c.*1049-1G>T (n.*1049-1G>T) c.1231-1G>T (n.1231-1G>T) c.1306-1G>T (n.1306-1G>T) c.1078-1G>T (n.1078-1G>T) | |
| 7 | g.107919010G>A | CA368859373 | DLD | c.1375G>A (p.Gly459Ser) c.*1049G>A (n.*1049G>A) c.1231G>A (p.Gly411Ser) c.1306G>A (p.Gly436Ser) c.1078G>A (p.Gly360Ser) | |
| 7 | g.107919010G>C | CA368859375 | DLD | c.1375G>C (p.Gly459Arg) c.*1049G>C (n.*1049G>C) c.1231G>C (p.Gly411Arg) c.1306G>C (p.Gly436Arg) c.1078G>C (p.Gly360Arg) | |
| 7 | g.107919010G>T | CA368859374 | DLD | c.1375G>T (p.Gly459Cys) c.*1049G>T (n.*1049G>T) c.1231G>T (p.Gly411Cys) c.1306G>T (p.Gly436Cys) c.1078G>T (p.Gly360Cys) | |
| 7 | g.107919011G>A | CA368859376 | DLD | c.1376G>A (p.Gly459Asp) c.*1050G>A (n.*1050G>A) c.1232G>A (p.Gly411Asp) c.1307G>A (p.Gly436Asp) c.1079G>A (p.Gly360Asp) | |
| 7 | g.107919011G>C | CA368859377 | DLD | c.1376G>C (p.Gly459Ala) c.*1050G>C (n.*1050G>C) c.1232G>C (p.Gly411Ala) c.1307G>C (p.Gly436Ala) c.1079G>C (p.Gly360Ala) | |
| 7 | g.107919011G= | CA1732860713 | DLD | c.1376G= (p.Gly459=) c.*1050G= (n.*1050G=) c.1232G= (p.Gly411=) c.1307G= (p.Gly436=) c.1079G= (p.Gly360=) | |
| 7 | g.107919011G>T | CA368859378 | DLD | c.1376G>T (p.Gly459Val) c.*1050G>T (n.*1050G>T) c.1232G>T (p.Gly411Val) c.1307G>T (p.Gly436Val) c.1079G>T (p.Gly360Val) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107919012T>A | CA457109775 | DLD | c.1377T>A (p.Gly459=) c.*1051T>A (n.*1051T>A) c.1233T>A (p.Gly411=) c.1308T>A (p.Gly436=) c.1080T>A (p.Gly360=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.107919012T>C | CA457109776 | DLD | c.1377T>C (p.Gly459=) c.*1051T>C (n.*1051T>C) c.1233T>C (p.Gly411=) c.1308T>C (p.Gly436=) c.1080T>C (p.Gly360=) | |
| 7 | g.107919012T>G | CA457109777 | DLD | c.1377T>G (p.Gly459=) c.*1051T>G (n.*1051T>G) c.1233T>G (p.Gly411=) c.1308T>G (p.Gly436=) c.1080T>G (p.Gly360=) | |
| 7 | g.107919012T= | CA1732860714 | DLD | c.1377T= (p.Gly459=) c.*1051T= (n.*1051T=) c.1233T= (p.Gly411=) c.1308T= (p.Gly436=) c.1080T= (p.Gly360=) | |
| 7 | g.107919013G>A | CA368859379 | DLD | c.1378G>A (p.Ala460Thr) c.*1052G>A (n.*1052G>A) c.1234G>A (p.Ala412Thr) c.1309G>A (p.Ala437Thr) c.1081G>A (p.Ala361Thr) | |
| 7 | g.107919013G>C | CA368859380 | DLD | c.1378G>C (p.Ala460Pro) c.*1052G>C (n.*1052G>C) c.1234G>C (p.Ala412Pro) c.1309G>C (p.Ala437Pro) c.1081G>C (p.Ala361Pro) | |
| 7 | g.107919013G>T | CA368859381 | DLD | c.1378G>T (p.Ala460Ser) c.*1052G>T (n.*1052G>T) c.1234G>T (p.Ala412Ser) c.1309G>T (p.Ala437Ser) c.1081G>T (p.Ala361Ser) | |
| 7 | g.107919014C>A | CA368859382 | DLD | c.1379C>A (p.Ala460Asp) c.*1053C>A (n.*1053C>A) c.1235C>A (p.Ala412Asp) c.1310C>A (p.Ala437Asp) c.1082C>A (p.Ala361Asp) | |
| 7 | g.107919014C>G | CA368859383 | DLD | c.1379C>G (p.Ala460Gly) c.*1053C>G (n.*1053C>G) c.1235C>G (p.Ala412Gly) c.1310C>G (p.Ala437Gly) c.1082C>G (p.Ala361Gly) | |
| 7 | g.107919014C>T | CA368859384 | DLD | c.1379C>T (p.Ala460Val) c.*1053C>T (n.*1053C>T) c.1235C>T (p.Ala412Val) c.1310C>T (p.Ala437Val) c.1082C>T (p.Ala361Val) | |
| 7 | g.107919015T>A | CA457109780 | DLD | c.1380T>A (p.Ala460=) c.*1054T>A (n.*1054T>A) c.1236T>A (p.Ala412=) c.1311T>A (p.Ala437=) c.1083T>A (p.Ala361=) | |
| 7 | g.107919015T>C | CA457109779 | DLD | c.1380T>C (p.Ala460=) c.*1054T>C (n.*1054T>C) c.1236T>C (p.Ala412=) c.1311T>C (p.Ala437=) c.1083T>C (p.Ala361=) | gnomAD v4 |
| 7 | g.107919015T>G | CA457109778 | DLD | c.1380T>G (p.Ala460=) c.*1054T>G (n.*1054T>G) c.1236T>G (p.Ala412=) c.1311T>G (p.Ala437=) c.1083T>G (p.Ala361=) | |
| 7 | g.107919016G>A | CA368859385 | DLD | c.1381G>A (p.Gly461Arg) c.*1055G>A (n.*1055G>A) c.1237G>A (p.Gly413Arg) c.1312G>A (p.Gly438Arg) c.1084G>A (p.Gly362Arg) | gnomAD v4 |
| 7 | g.107919016G>C | CA368859386 | DLD | c.1381G>C (p.Gly461Arg) c.*1055G>C (n.*1055G>C) c.1237G>C (p.Gly413Arg) c.1312G>C (p.Gly438Arg) c.1084G>C (p.Gly362Arg) | |
| 7 | g.107919016G>T | CA368859387 | DLD | c.1381G>T (p.Gly461Ter) c.*1055G>T (n.*1055G>T) c.1237G>T (p.Gly413Ter) c.1312G>T (p.Gly438Ter) c.1084G>T (p.Gly362Ter) | |
| 7 | g.107919017G>A | CA312474 | DLD | c.1382G>A (p.Gly461Glu) c.*1056G>A (n.*1056G>A) c.1238G>A (p.Gly413Glu) c.1313G>A (p.Gly438Glu) c.1085G>A (p.Gly362Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107919017G>C | CA368859388 | DLD | c.1382G>C (p.Gly461Ala) c.*1056G>C (n.*1056G>C) c.1238G>C (p.Gly413Ala) c.1313G>C (p.Gly438Ala) c.1085G>C (p.Gly362Ala) | dbSNP |
| 7 | g.107919017G= | CA1732860715 | DLD | c.1382G= (p.Gly461=) c.*1056G= (n.*1056G=) c.1238G= (p.Gly413=) c.1313G= (p.Gly438=) c.1085G= (p.Gly362=) | |
| 7 | g.107919017G>T | CA368859389 | DLD | c.1382G>T (p.Gly461Val) c.*1056G>T (n.*1056G>T) c.1238G>T (p.Gly413Val) c.1313G>T (p.Gly438Val) c.1085G>T (p.Gly362Val) | |
| 7 | g.107919018A>C | CA457109781 | DLD | c.1383A>C (p.Gly461=) c.*1057A>C (n.*1057A>C) c.1239A>C (p.Gly413=) c.1314A>C (p.Gly438=) c.1086A>C (p.Gly362=) | |
| 7 | g.107919018A>G | CA457109782 | DLD | c.1383A>G (p.Gly461=) c.*1057A>G (n.*1057A>G) c.1239A>G (p.Gly413=) c.1314A>G (p.Gly438=) c.1086A>G (p.Gly362=) | |
| 7 | g.107919018A>T | CA457109783 | DLD | c.1383A>T (p.Gly461=) c.*1057A>T (n.*1057A>T) c.1239A>T (p.Gly413=) c.1314A>T (p.Gly438=) c.1086A>T (p.Gly362=) | |
| 7 | g.107919019G>A | CA4434699 | DLD | c.1384G>A (p.Glu462Lys) c.*1058G>A (n.*1058G>A) c.1240G>A (p.Glu414Lys) c.1315G>A (p.Glu439Lys) c.1087G>A (p.Glu363Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107919019G>C | CA368859390 | DLD | c.1384G>C (p.Glu462Gln) c.*1058G>C (n.*1058G>C) c.1240G>C (p.Glu414Gln) c.1315G>C (p.Glu439Gln) c.1087G>C (p.Glu363Gln) | |
| 7 | g.107919019G= | CA1732860716 | DLD | c.1384G= (p.Glu462=) c.*1058G= (n.*1058G=) c.1240G= (p.Glu414=) c.1315G= (p.Glu439=) c.1087G= (p.Glu363=) | |
| 7 | g.107919019G>T | CA368859391 | DLD | c.1384G>T (p.Glu462Ter) c.*1058G>T (n.*1058G>T) c.1240G>T (p.Glu414Ter) c.1315G>T (p.Glu439Ter) c.1087G>T (p.Glu363Ter) | |
| 7 | g.107919020A>C | CA368859392 | DLD | c.1385A>C (p.Glu462Ala) c.*1059A>C (n.*1059A>C) c.1241A>C (p.Glu414Ala) c.1316A>C (p.Glu439Ala) c.1088A>C (p.Glu363Ala) | |
| 7 | g.107919020A>G | CA368859393 | DLD | c.1385A>G (p.Glu462Gly) c.*1059A>G (n.*1059A>G) c.1241A>G (p.Glu414Gly) c.1316A>G (p.Glu439Gly) c.1088A>G (p.Glu363Gly) | |
| 7 | g.107919020A>T | CA368859394 | DLD | c.1385A>T (p.Glu462Val) c.*1059A>T (n.*1059A>T) c.1241A>T (p.Glu414Val) c.1316A>T (p.Glu439Val) c.1088A>T (p.Glu363Val) |