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 |
|---|---|---|---|---|---|
| 22 | g.50625351_50625352delinsTG | CA2410958436 | ARSA | c.1323_1324delinsCA (p.Tyr441=) c.1065_1066delinsCA (p.Tyr355=) c.180+11_180+12delinsCA c.*56_*57delinsCA (n.*56_*57delinsCA) c.1437_1438delinsCA (p.Tyr479=) | |
| 22 | g.50625352_50625353del | CA913088701 | ARSA | c.1323_1324del (p.Tyr441Ter) c.1065_1066del (p.Tyr355Ter) c.180+11_180+12del c.*56_*57del (n.*56_*57del) c.1437_1438del (p.Tyr479Ter) | |
| 22 | g.50625352del | CA658824682 | ARSA | c.1323del (p.Tyr441Ter) c.1065del (p.Tyr355Ter) c.180+11del c.*56del (n.*56del) c.1437del (p.Tyr479Ter) | ClinVar dbSNP |
| 22 | g.50625352G>A | CA515391057 | ARSA | c.1323C>T (p.Tyr441=) c.1065C>T (p.Tyr355=) c.180+11C>T c.*56C>T (n.*56C>T) c.1437C>T (p.Tyr479=) | |
| 22 | g.50625352G>C | CA412168576 | ARSA | c.1323C>G (p.Tyr441Ter) c.1065C>G (p.Tyr355Ter) c.180+11C>G c.*56C>G (n.*56C>G) c.1437C>G (p.Tyr479Ter) | |
| 22 | g.50625352G>T | CA412168579 | ARSA | c.1323C>A (p.Tyr441Ter) c.1065C>A (p.Tyr355Ter) c.180+11C>A c.*56C>A (n.*56C>A) c.1437C>A (p.Tyr479Ter) | |
| 22 | g.50625353T>A | CA412168590 | ARSA | c.1322A>T (p.Tyr441Phe) c.1064A>T (p.Tyr355Phe) c.180+10A>T c.*55A>T (n.*55A>T) c.1436A>T (p.Tyr479Phe) | |
| 22 | g.50625353T>C | CA412168585 | ARSA | c.1322A>G (p.Tyr441Cys) c.1064A>G (p.Tyr355Cys) c.180+10A>G c.*55A>G (n.*55A>G) c.1436A>G (p.Tyr479Cys) | |
| 22 | g.50625353T>G | CA412168587 | ARSA | c.1322A>C (p.Tyr441Ser) c.1064A>C (p.Tyr355Ser) c.180+10A>C c.*55A>C (n.*55A>C) c.1436A>C (p.Tyr479Ser) | |
| 22 | g.50625354A= | CA2410958437 | ARSA | c.1321T= (p.Tyr441=) c.1063T= (p.Tyr355=) c.180+9T= c.*54T= (n.*54T=) c.1435T= (p.Tyr479=) | |
| 22 | g.50625354A>C | CA412168597 | ARSA | c.1321T>G (p.Tyr441Asp) c.1063T>G (p.Tyr355Asp) c.180+9T>G c.*54T>G (n.*54T>G) c.1435T>G (p.Tyr479Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50625354A>G | CA412168600 | ARSA | c.1321T>C (p.Tyr441His) c.1063T>C (p.Tyr355His) c.180+9T>C c.*54T>C (n.*54T>C) c.1435T>C (p.Tyr479His) | |
| 22 | g.50625354A>T | CA412168603 | ARSA | c.1321T>A (p.Tyr441Asn) c.1063T>A (p.Tyr355Asn) c.180+9T>A c.*54T>A (n.*54T>A) c.1435T>A (p.Tyr479Asn) | |
| 22 | g.50625355G>A | CA515391063 | ARSA | c.1320C>T (p.Asn440=) c.1062C>T (p.Asn354=) c.180+8C>T c.*53C>T (n.*53C>T) c.1434C>T (p.Asn478=) | |
| 22 | g.50625355G>C | CA412168608 | ARSA | c.1320C>G (p.Asn440Lys) c.1062C>G (p.Asn354Lys) c.180+8C>G c.*53C>G (n.*53C>G) c.1434C>G (p.Asn478Lys) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 22 | g.50625355G= | CA2410958438 | ARSA | c.1320C= (p.Asn440=) c.1062C= (p.Asn354=) c.180+8C= c.*53C= (n.*53C=) c.1434C= (p.Asn478=) | |
| 22 | g.50625355G>T | CA412168613 | ARSA | c.1320C>A (p.Asn440Lys) c.1062C>A (p.Asn354Lys) c.180+8C>A c.*53C>A (n.*53C>A) c.1434C>A (p.Asn478Lys) | |
| 22 | g.50625356T>A | CA412168617 | ARSA | c.1319A>T (p.Asn440Ile) c.1061A>T (p.Asn354Ile) c.180+7A>T c.*52A>T (n.*52A>T) c.1433A>T (p.Asn478Ile) | |
| 22 | g.50625356T>C | CA412168622 | ARSA | c.1319A>G (p.Asn440Ser) c.1061A>G (p.Asn354Ser) c.180+7A>G c.*52A>G (n.*52A>G) c.1433A>G (p.Asn478Ser) | |
| 22 | g.50625356T>G | CA412168621 | ARSA | c.1319A>C (p.Asn440Thr) c.1061A>C (p.Asn354Thr) c.180+7A>C c.*52A>C (n.*52A>C) c.1433A>C (p.Asn478Thr) | |
| 22 | g.50625357T>A | CA412168626 | ARSA | c.1318A>T (p.Asn440Tyr) c.1060A>T (p.Asn354Tyr) c.180+6A>T c.*51A>T (n.*51A>T) c.1432A>T (p.Asn478Tyr) | |
| 22 | g.50625357T>C | CA412168633 | ARSA | c.1318A>G (p.Asn440Asp) c.1060A>G (p.Asn354Asp) c.180+6A>G c.*51A>G (n.*51A>G) c.1432A>G (p.Asn478Asp) | |
| 22 | g.50625357T>G | CA412168630 | ARSA | c.1318A>C (p.Asn440His) c.1060A>C (p.Asn354His) c.180+6A>C c.*51A>C (n.*51A>C) c.1432A>C (p.Asn478His) | |
| 22 | g.50625358C>A | CA412168634 | ARSA | c.1317G>T (p.Glu439Asp) c.1059G>T (p.Glu353Asp) c.180+5G>T c.*50G>T (n.*50G>T) c.1431G>T (p.Glu477Asp) | |
| 22 | g.50625358C>G | CA412168635 | ARSA | c.1317G>C (p.Glu439Asp) c.1059G>C (p.Glu353Asp) c.180+5G>C c.*50G>C (n.*50G>C) c.1431G>C (p.Glu477Asp) | |
| 22 | g.50625358C>T | CA515391076 | ARSA | c.1317G>A (p.Glu439=) c.1059G>A (p.Glu353=) c.180+5G>A c.*50G>A (n.*50G>A) c.1431G>A (p.Glu477=) | ClinVar dbSNP |
| 22 | g.50625359T>A | CA412168636 | ARSA | c.1316A>T (p.Glu439Val) c.1058A>T (p.Glu353Val) c.180+4A>T c.*49A>T (n.*49A>T) c.1430A>T (p.Glu477Val) | |
| 22 | g.50625359T>C | CA412168638 | ARSA | c.1316A>G (p.Glu439Gly) c.1058A>G (p.Glu353Gly) c.180+4A>G c.*49A>G (n.*49A>G) c.1430A>G (p.Glu477Gly) | |
| 22 | g.50625359T>G | CA412168641 | ARSA | c.1316A>C (p.Glu439Ala) c.1058A>C (p.Glu353Ala) c.180+4A>C c.*49A>C (n.*49A>C) c.1430A>C (p.Glu477Ala) | |
| 22 | g.50625360C>A | CA412168646 | ARSA | c.1315G>T (p.Glu439Ter) c.1057G>T (p.Glu353Ter) c.180+3G>T c.*48G>T (n.*48G>T) c.1429G>T (p.Glu477Ter) | |
| 22 | g.50625360C>G | CA412168654 | ARSA | c.1315G>C (p.Glu439Gln) c.1057G>C (p.Glu353Gln) c.180+3G>C c.*48G>C (n.*48G>C) c.1429G>C (p.Glu477Gln) | |
| 22 | g.50625360C>T | CA412168659 | ARSA | c.1315G>A (p.Glu439Lys) c.1057G>A (p.Glu353Lys) c.180+3G>A c.*48G>A (n.*48G>A) c.1429G>A (p.Glu477Lys) | |
| 22 | g.50625361_50625362del | CA2657590893 | ARSA | c.1314_1315del (p.Asn440LeufsTer?) c.1056_1057del (p.Asn354LeufsTer?) c.180+2_180+3del c.*47_*48del (n.*47_*48del) c.1428_1429del (p.Asn478LeufsTer?) | ClinVar gnomAD v4 |
| 22 | g.50625361A>C | CA515391084 | ARSA | c.1314T>G (p.Gly438=) c.1056T>G (p.Gly352=) c.180+2T>G c.*47T>G (n.*47T>G) c.1428T>G (p.Gly476=) | gnomAD v4 |
| 22 | g.50625361A>G | CA515391085 | ARSA | c.1314T>C (p.Gly438=) c.1056T>C (p.Gly352=) c.180+2T>C c.*47T>C (n.*47T>C) c.1428T>C (p.Gly476=) | |
| 22 | g.50625361A>T | CA515391086 | ARSA | c.1314T>A (p.Gly438=) c.1056T>A (p.Gly352=) c.180+2T>A c.*47T>A (n.*47T>A) c.1428T>A (p.Gly476=) | |
| 22 | g.50625362C>A | CA10324748 | ARSA | c.1313G>T (p.Gly438Val) c.1055G>T (p.Gly352Val) c.180+1G>T c.*46G>T (n.*46G>T) c.1427G>T (p.Gly476Val) | dbSNP ExAC gnomAD v2 |
| 22 | g.50625362C= | CA2410958439 | ARSA | c.1313G= (p.Gly438=) c.1055G= (p.Gly352=) c.180+1G= c.*46G= (n.*46G=) c.1427G= (p.Gly476=) | |
| 22 | g.50625362C>G | CA412168664 | ARSA | c.1313G>C (p.Gly438Ala) c.1055G>C (p.Gly352Ala) c.180+1G>C c.*46G>C (n.*46G>C) c.1427G>C (p.Gly476Ala) | |
| 22 | g.50625362C>T | CA412168665 | ARSA | c.1313G>A (p.Gly438Asp) c.1055G>A (p.Gly352Asp) c.180+1G>A c.*46G>A (n.*46G>A) c.1427G>A (p.Gly476Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50625363C>A | CA412168672 | ARSA | c.1312G>T (p.Gly438Cys) c.1054G>T (p.Gly352Cys) c.180G>T c.*45G>T (n.*45G>T) c.1426G>T (p.Gly476Cys) | |
| 22 | g.50625363C= | CA2410958440 | ARSA | c.1312G= (p.Gly438=) c.1054G= (p.Gly352=) c.180G= c.*45G= (n.*45G=) c.1426G= (p.Gly476=) | |
| 22 | g.50625363C>G | CA412168670 | ARSA | c.1312G>C (p.Gly438Arg) c.1054G>C (p.Gly352Arg) c.180G>C c.*45G>C (n.*45G>C) c.1426G>C (p.Gly476Arg) | |
| 22 | g.50625363C>T | CA10324749 | ARSA | c.1312G>A (p.Gly438Ser) c.1054G>A (p.Gly352Ser) c.180G>A c.*45G>A (n.*45G>A) c.1426G>A (p.Gly476Ser) | dbSNP ExAC gnomAD v2 |
| 22 | g.50625364A= | CA2410958441 | ARSA | c.1311T= (p.Pro437=) c.1053T= (p.Pro351=) c.179T= c.*44T= (n.*44T=) c.1425T= (p.Pro475=) | |
| 22 | g.50625364A>C | CA515391092 | ARSA | c.1311T>G (p.Pro437=) c.1053T>G (p.Pro351=) c.179T>G c.*44T>G (n.*44T>G) c.1425T>G (p.Pro475=) | |
| 22 | g.50625364A>G | CA515391093 | ARSA | c.1311T>C (p.Pro437=) c.1053T>C (p.Pro351=) c.179T>C c.*44T>C (n.*44T>C) c.1425T>C (p.Pro475=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625364A>T | CA515391094 | ARSA | c.1311T>A (p.Pro437=) c.1053T>A (p.Pro351=) c.179T>A c.*44T>A (n.*44T>A) c.1425T>A (p.Pro475=) | |
| 22 | g.50625365G>A | CA412168676 | ARSA | c.1310C>T (p.Pro437Leu) c.1052C>T (p.Pro351Leu) c.178C>T c.*43C>T (n.*43C>T) c.1424C>T (p.Pro475Leu) | |
| 22 | g.50625365G>C | CA412168685 | ARSA | c.1310C>G (p.Pro437Arg) c.1052C>G (p.Pro351Arg) c.178C>G c.*43C>G (n.*43C>G) c.1424C>G (p.Pro475Arg) |