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 |
|---|---|---|---|---|---|
| 1 | g.99876563G>A | CA966472 | AGL | c.1389G>A (p.Met463Ile) n.1600G>A c.1341G>A (p.Met447Ile) c.1338G>A (p.Met446Ile) n.648G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99876563G>C | CA341346582 | AGL | c.1389G>C (p.Met463Ile) n.1600G>C c.1341G>C (p.Met447Ile) c.1338G>C (p.Met446Ile) n.648G>C | gnomAD v4 |
| 1 | g.99876563G= | CA1149063710 | AGL | c.1389G= (p.Met463=) n.1600G= c.1341G= (p.Met447=) c.1338G= (p.Met446=) n.648G= | |
| 1 | g.99876563G>T | CA341346583 | AGL | c.1389G>T (p.Met463Ile) n.1600G>T c.1341G>T (p.Met447Ile) c.1338G>T (p.Met446Ile) n.648G>T | |
| 1 | g.99876565dup | CA274234 | AGL | c.1391dup (p.Asp465ArgfsTer2) n.1602dup c.1343dup (p.Asp449ArgfsTer2) c.1340dup (p.Asp448ArgfsTer2) n.650dup | ClinVar dbSNP gnomAD v4 |
| 1 | g.99876564G>A | CA341346585 | AGL | c.1390G>A (p.Gly464Arg) n.1601G>A c.1342G>A (p.Gly448Arg) c.1339G>A (p.Gly447Arg) n.649G>A | |
| 1 | g.99876564G>C | CA341346590 | AGL | c.1390G>C (p.Gly464Arg) n.1601G>C c.1342G>C (p.Gly448Arg) c.1339G>C (p.Gly447Arg) n.649G>C | |
| 1 | g.99876564G>T | CA341346586 | AGL | c.1390G>T (p.Gly464Ter) n.1601G>T c.1342G>T (p.Gly448Ter) c.1339G>T (p.Gly447Ter) n.649G>T | |
| 1 | g.99876565G>A | CA341346594 | AGL | c.1391G>A (p.Gly464Glu) n.1602G>A c.1343G>A (p.Gly448Glu) c.1340G>A (p.Gly447Glu) n.650G>A | |
| 1 | g.99876565G>C | CA341346597 | AGL | c.1391G>C (p.Gly464Ala) n.1602G>C c.1343G>C (p.Gly448Ala) c.1340G>C (p.Gly447Ala) n.650G>C | |
| 1 | g.99876565G>T | CA341346598 | AGL | c.1391G>T (p.Gly464Val) n.1602G>T c.1343G>T (p.Gly448Val) c.1340G>T (p.Gly447Val) n.650G>T | |
| 1 | g.99876566A>C | CA419097271 | AGL | c.1392A>C (p.Gly464=) n.1603A>C c.1344A>C (p.Gly448=) c.1341A>C (p.Gly447=) n.651A>C | |
| 1 | g.99876566A>G | CA419097272 | AGL | c.1392A>G (p.Gly464=) n.1603A>G c.1344A>G (p.Gly448=) c.1341A>G (p.Gly447=) n.651A>G | ClinVar |
| 1 | g.99876566A>T | CA419097273 | AGL | c.1392A>T (p.Gly464=) n.1603A>T c.1344A>T (p.Gly448=) c.1341A>T (p.Gly447=) n.651A>T | gnomAD v4 |
| 1 | g.99876567G>A | CA341346602 | AGL | c.1393G>A (p.Asp465Asn) n.1604G>A c.1345G>A (p.Asp449Asn) c.1342G>A (p.Asp448Asn) n.652G>A | |
| 1 | g.99876567G>C | CA341346607 | AGL | c.1393G>C (p.Asp465His) n.1604G>C c.1345G>C (p.Asp449His) c.1342G>C (p.Asp448His) n.652G>C | |
| 1 | g.99876567G>T | CA341346611 | AGL | c.1393G>T (p.Asp465Tyr) n.1604G>T c.1345G>T (p.Asp449Tyr) c.1342G>T (p.Asp448Tyr) n.652G>T | |
| 1 | g.99876568A= | CA1183927343 | AGL | c.1394A= (p.Asp465=) n.1605A= c.1346A= (p.Asp449=) c.1343A= (p.Asp448=) n.653A= | |
| 1 | g.99876568A>C | CA341346613 | AGL | c.1394A>C (p.Asp465Ala) n.1605A>C c.1346A>C (p.Asp449Ala) c.1343A>C (p.Asp448Ala) n.653A>C | |
| 1 | g.99876568A>G | CA341346614 | AGL | c.1394A>G (p.Asp465Gly) n.1605A>G c.1346A>G (p.Asp449Gly) c.1343A>G (p.Asp448Gly) n.653A>G | |
| 1 | g.99876568A>T | CA341346615 | AGL | c.1394A>T (p.Asp465Val) n.1605A>T c.1346A>T (p.Asp449Val) c.1343A>T (p.Asp448Val) n.653A>T | dbSNP |
| 1 | g.99876568_99876570delinsATG | CA1183927345 | AGL | c.1394_1396delinsATG (p.Asp465=) n.1605_1607delinsATG c.1346_1348delinsATG (p.Asp449=) c.1343_1345delinsATG (p.Asp448=) n.653_655delinsATG | |
| 1 | g.99876568_99876573delinsATGATC | CA1183927344 | AGL | c.1394_1399delinsATGATC (p.Asp465=) n.1605_1610delinsATGATC c.1346_1351delinsATGATC (p.Asp449=) c.1343_1348delinsATGATC (p.Asp448=) n.653_658delinsATGATC | |
| 1 | g.99876569T>A | CA341346617 | AGL | c.1395T>A (p.Asp465Glu) n.1606T>A c.1347T>A (p.Asp449Glu) c.1344T>A (p.Asp448Glu) n.654T>A | |
| 1 | g.99876569T>C | CA419097274 | AGL | c.1395T>C (p.Asp465=) n.1606T>C c.1347T>C (p.Asp449=) c.1344T>C (p.Asp448=) n.654T>C | gnomAD v4 |
| 1 | g.99876569T>G | CA966473 | AGL | c.1395T>G (p.Asp465Glu) n.1606T>G c.1347T>G (p.Asp449Glu) c.1344T>G (p.Asp448Glu) n.654T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99876569T= | CA1183927346 | AGL | c.1395T= (p.Asp465=) n.1606T= c.1347T= (p.Asp449=) c.1344T= (p.Asp448=) n.654T= | |
| 1 | g.99876569_99876570del | CA1004950277 | AGL | c.1395_1396del (p.Asp465GlufsTer8) n.1606_1607del c.1347_1348del (p.Asp449GlufsTer8) c.1344_1345del (p.Asp448GlufsTer8) n.654_655del | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.99876569_99876573del | CA741028337 | AGL | c.1395_1399del (p.Asp466SerfsTer6) n.1606_1610del c.1347_1351del (p.Asp450SerfsTer6) c.1344_1348del (p.Asp449SerfsTer6) n.654_658del | dbSNP |
| 1 | g.99876570G>A | CA341346624 | AGL | c.1396G>A (p.Asp466Asn) n.1607G>A c.1348G>A (p.Asp450Asn) c.1345G>A (p.Asp449Asn) n.655G>A | |
| 1 | g.99876570G>C | CA341346628 | AGL | c.1396G>C (p.Asp466His) n.1607G>C c.1348G>C (p.Asp450His) c.1345G>C (p.Asp449His) n.655G>C | |
| 1 | g.99876570G= | CA1183927347 | AGL | c.1396G= (p.Asp466=) n.1607G= c.1348G= (p.Asp450=) c.1345G= (p.Asp449=) n.655G= | |
| 1 | g.99876570G>T | CA341346627 | AGL | c.1396G>T (p.Asp466Tyr) n.1607G>T c.1348G>T (p.Asp450Tyr) c.1345G>T (p.Asp449Tyr) n.655G>T | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.99876571A= | CA1183927348 | AGL | c.1397A= (p.Asp466=) n.1608A= c.1349A= (p.Asp450=) c.1346A= (p.Asp449=) n.656A= | |
| 1 | g.99876571A>C | CA341346630 | AGL | c.1397A>C (p.Asp466Ala) n.1608A>C c.1349A>C (p.Asp450Ala) c.1346A>C (p.Asp449Ala) n.656A>C | |
| 1 | g.99876571A>G | CA341346634 | AGL | c.1397A>G (p.Asp466Gly) n.1608A>G c.1349A>G (p.Asp450Gly) c.1346A>G (p.Asp449Gly) n.656A>G | dbSNP |
| 1 | g.99876571A>T | CA341346632 | AGL | c.1397A>T (p.Asp466Val) n.1608A>T c.1349A>T (p.Asp450Val) c.1346A>T (p.Asp449Val) n.656A>T | |
| 1 | g.99876571_99876574delinsATCC | CA1183927349 | AGL | c.1397_1400delinsATCC (p.Asp466=) n.1608_1611delinsATCC c.1349_1352delinsATCC (p.Asp450=) c.1346_1349delinsATCC (p.Asp449=) n.656_659delinsATCC | |
| 1 | g.99876572T>A | CA341346636 | AGL | c.1398T>A (p.Asp466Glu) n.1609T>A c.1350T>A (p.Asp450Glu) c.1347T>A (p.Asp449Glu) n.657T>A | |
| 1 | g.99876572T>C | CA419097275 | AGL | c.1398T>C (p.Asp466=) n.1609T>C c.1350T>C (p.Asp450=) c.1347T>C (p.Asp449=) n.657T>C | |
| 1 | g.99876572T>G | CA341346639 | AGL | c.1398T>G (p.Asp466Glu) n.1609T>G c.1350T>G (p.Asp450Glu) c.1347T>G (p.Asp449Glu) n.657T>G | |
| 1 | g.99876572_99876573delinsTC | CA1183927350 | AGL | c.1398_1399delinsTC (p.Asp466=) n.1609_1610delinsTC c.1350_1351delinsTC (p.Asp450=) c.1347_1348delinsTC (p.Asp449=) n.657_658delinsTC | |
| 1 | g.99876574_99876576del | CA1004950285 | AGL | c.1400_1402del (p.Pro467del) n.1611_1613del c.1352_1354del (p.Pro451del) c.1349_1351del (p.Pro450del) n.659_661del | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.99876573C>A | CA341346642 | AGL | c.1399C>A (p.Pro467Thr) n.1610C>A c.1351C>A (p.Pro451Thr) c.1348C>A (p.Pro450Thr) n.658C>A | |
| 1 | g.99876573C>G | CA341346645 | AGL | c.1399C>G (p.Pro467Ala) n.1610C>G c.1351C>G (p.Pro451Ala) c.1348C>G (p.Pro450Ala) n.658C>G | |
| 1 | g.99876573C>T | CA341346653 | AGL | c.1399C>T (p.Pro467Ser) n.1610C>T c.1351C>T (p.Pro451Ser) c.1348C>T (p.Pro450Ser) n.658C>T | gnomAD v4 |
| 1 | g.99876574del | CA16040830 | AGL | c.1400del (p.Pro467LeufsTer14) n.1611del c.1352del (p.Pro451LeufsTer14) c.1349del (p.Pro450LeufsTer14) n.659del | ClinVar dbSNP |
| 1 | g.99876574C>A | CA966475 | AGL | c.1400C>A (p.Pro467His) n.1611C>A c.1352C>A (p.Pro451His) c.1349C>A (p.Pro450His) n.659C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.99876574C= | CA1145424738 | AGL | c.1400C= (p.Pro467=) n.1611C= c.1352C= (p.Pro451=) c.1349C= (p.Pro450=) n.659C= | |
| 1 | g.99876574C>G | CA27575323 | AGL | c.1400C>G (p.Pro467Arg) n.1611C>G c.1352C>G (p.Pro451Arg) c.1349C>G (p.Pro450Arg) n.659C>G | dbSNP |