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 |
|---|---|---|---|---|---|
| 16 | g.48167586_48167613delinsTTCACGGATTGTGCGCTGGATCAGGGTG | CA2220652495 | ABCC11 | c.3939_3966delinsCACCCTGATCCAGCGCACAATCCGTGAA (p.Asp1313=) c.3825_3852delinsCACCCTGATCCAGCGCACAATCCGTGAA (p.Asp1275=) n.1239_1266delinsCACCCTGATCCAGCGCACAATCCGTGAA c.3741_3768delinsCACCCTGATCCAGCGCACAATCCGTGAA (p.Asp1247=) c.2982_3009delinsCACCCTGATCCAGCGCACAATCCGTGAA (p.Asp994=) c.2070_2097delinsCACCCTGATCCAGCGCACAATCCGTGAA (p.Asp690=) c.3831_3858delinsCACCCTGATCCAGCGCACAATCCGTGAA (p.Asp1277=) n.6617_6644delinsCACCCTGATCCAGCGCACAATCCGTGAA c.3945_3972delinsCACCCTGATCCAGCGCACAATCCGTGAA (p.Asp1315=) | |
| 16 | g.48167589_48167615dup | CA2220652502 | ABCC11 | c.3939_3965dup (p.Arg1321_Glu1322insAspThrLeuIleGlnArgThrIleArg) c.3825_3851dup (p.Arg1283_Glu1284insAspThrLeuIleGlnArgThrIleArg) n.1239_1265dup c.3741_3767dup (p.Arg1255_Glu1256insAspThrLeuIleGlnArgThrIleArg) c.2982_3008dup (p.Arg1002_Glu1003insAspThrLeuIleGlnArgThrIleArg) c.2070_2096dup (p.Arg698_Glu699insAspThrLeuIleGlnArgThrIleArg) c.3831_3857dup (p.Arg1285_Glu1286insAspThrLeuIleGlnArgThrIleArg) n.6617_6643dup c.3945_3971dup (p.Arg1323_Glu1324insAspThrLeuIleGlnArgThrIleArg) | dbSNP |
| 16 | g.48167589_48167615del | CA116355 | ABCC11 | c.3939_3965del (p.Asp1313_Arg1321del) c.3825_3851del (p.Asp1275_Arg1283del) n.1239_1265del c.3741_3767del (p.Asp1247_Arg1255del) c.2982_3008del (p.Asp994_Arg1002del) c.2070_2096del (p.Asp690_Arg698del) c.3831_3857del (p.Asp1277_Arg1285del) n.6617_6643del c.3945_3971del (p.Asp1315_Arg1323del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.48167591G>A | CA8042964 | ABCC11 | c.3961C>T (p.Arg1321Cys) c.3847C>T (p.Arg1283Cys) n.1261C>T c.3763C>T (p.Arg1255Cys) c.3004C>T (p.Arg1002Cys) c.2092C>T (p.Arg698Cys) c.3853C>T (p.Arg1285Cys) n.6639C>T c.3967C>T (p.Arg1323Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.48167591G>C | CA8042963 | ABCC11 | c.3961C>G (p.Arg1321Gly) c.3847C>G (p.Arg1283Gly) n.1261C>G c.3763C>G (p.Arg1255Gly) c.3004C>G (p.Arg1002Gly) c.2092C>G (p.Arg698Gly) c.3853C>G (p.Arg1285Gly) n.6639C>G c.3967C>G (p.Arg1323Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.48167591G= | CA2220652516 | ABCC11 | c.3961C= (p.Arg1321=) c.3847C= (p.Arg1283=) n.1261C= c.3763C= (p.Arg1255=) c.3004C= (p.Arg1002=) c.2092C= (p.Arg698=) c.3853C= (p.Arg1285=) n.6639C= c.3967C= (p.Arg1323=) | |
| 16 | g.48167591G>T | CA280260613 | ABCC11 | c.3961C>A (p.Arg1321Ser) c.3847C>A (p.Arg1283Ser) n.1261C>A c.3763C>A (p.Arg1255Ser) c.3004C>A (p.Arg1002Ser) c.2092C>A (p.Arg698Ser) c.3853C>A (p.Arg1285Ser) n.6639C>A c.3967C>A (p.Arg1323Ser) | dbSNP |
| 16 | g.48167592G>A | CA495442673 | ABCC11 | c.3960C>T (p.Ile1320=) c.3846C>T (p.Ile1282=) n.1260C>T c.3762C>T (p.Ile1254=) c.3003C>T (p.Ile1001=) c.2091C>T (p.Ile697=) c.3852C>T (p.Ile1284=) n.6638C>T c.3966C>T (p.Ile1322=) | |
| 16 | g.48167592G>C | CA395804423 | ABCC11 | c.3960C>G (p.Ile1320Met) c.3846C>G (p.Ile1282Met) n.1260C>G c.3762C>G (p.Ile1254Met) c.3003C>G (p.Ile1001Met) c.2091C>G (p.Ile697Met) c.3852C>G (p.Ile1284Met) n.6638C>G c.3966C>G (p.Ile1322Met) | |
| 16 | g.48167592G= | CA2220652525 | ABCC11 | c.3960C= (p.Ile1320=) c.3846C= (p.Ile1282=) n.1260C= c.3762C= (p.Ile1254=) c.3003C= (p.Ile1001=) c.2091C= (p.Ile697=) c.3852C= (p.Ile1284=) n.6638C= c.3966C= (p.Ile1322=) | |
| 16 | g.48167592G>T | CA8042965 | ABCC11 | c.3960C>A (p.Ile1320=) c.3846C>A (p.Ile1282=) n.1260C>A c.3762C>A (p.Ile1254=) c.3003C>A (p.Ile1001=) c.2091C>A (p.Ile697=) c.3852C>A (p.Ile1284=) n.6638C>A c.3966C>A (p.Ile1322=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.48167593A>C | CA395804427 | ABCC11 | c.3959T>G (p.Ile1320Ser) c.3845T>G (p.Ile1282Ser) n.1259T>G c.3761T>G (p.Ile1254Ser) c.3002T>G (p.Ile1001Ser) c.2090T>G (p.Ile697Ser) c.3851T>G (p.Ile1284Ser) n.6637T>G c.3965T>G (p.Ile1322Ser) | |
| 16 | g.48167593A>G | CA395804430 | ABCC11 | c.3959T>C (p.Ile1320Thr) c.3845T>C (p.Ile1282Thr) n.1259T>C c.3761T>C (p.Ile1254Thr) c.3002T>C (p.Ile1001Thr) c.2090T>C (p.Ile697Thr) c.3851T>C (p.Ile1284Thr) n.6637T>C c.3965T>C (p.Ile1322Thr) | |
| 16 | g.48167593A>T | CA395804428 | ABCC11 | c.3959T>A (p.Ile1320Asn) c.3845T>A (p.Ile1282Asn) n.1259T>A c.3761T>A (p.Ile1254Asn) c.3002T>A (p.Ile1001Asn) c.2090T>A (p.Ile697Asn) c.3851T>A (p.Ile1284Asn) n.6637T>A c.3965T>A (p.Ile1322Asn) | COSMIC |
| 16 | g.48167594T>A | CA395804433 | ABCC11 | c.3958A>T (p.Ile1320Phe) c.3844A>T (p.Ile1282Phe) n.1258A>T c.3760A>T (p.Ile1254Phe) c.3001A>T (p.Ile1001Phe) c.2089A>T (p.Ile697Phe) c.3850A>T (p.Ile1284Phe) n.6636A>T c.3964A>T (p.Ile1322Phe) | |
| 16 | g.48167594T>C | CA395804434 | ABCC11 | c.3958A>G (p.Ile1320Val) c.3844A>G (p.Ile1282Val) n.1258A>G c.3760A>G (p.Ile1254Val) c.3001A>G (p.Ile1001Val) c.2089A>G (p.Ile697Val) c.3850A>G (p.Ile1284Val) n.6636A>G c.3964A>G (p.Ile1322Val) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.48167594T>G | CA395804437 | ABCC11 | c.3958A>C (p.Ile1320Leu) c.3844A>C (p.Ile1282Leu) n.1258A>C c.3760A>C (p.Ile1254Leu) c.3001A>C (p.Ile1001Leu) c.2089A>C (p.Ile697Leu) c.3850A>C (p.Ile1284Leu) n.6636A>C c.3964A>C (p.Ile1322Leu) | |
| 16 | g.48167594T= | CA2220652534 | ABCC11 | c.3958A= (p.Ile1320=) c.3844A= (p.Ile1282=) n.1258A= c.3760A= (p.Ile1254=) c.3001A= (p.Ile1001=) c.2089A= (p.Ile697=) c.3850A= (p.Ile1284=) n.6636A= c.3964A= (p.Ile1322=) | |
| 16 | g.48167595T>A | CA495442674 | ABCC11 | c.3957A>T (p.Thr1319=) c.3843A>T (p.Thr1281=) n.1257A>T c.3759A>T (p.Thr1253=) c.3000A>T (p.Thr1000=) c.2088A>T (p.Thr696=) c.3849A>T (p.Thr1283=) n.6635A>T c.3963A>T (p.Thr1321=) | |
| 16 | g.48167595T>C | CA495442675 | ABCC11 | c.3957A>G (p.Thr1319=) c.3843A>G (p.Thr1281=) n.1257A>G c.3759A>G (p.Thr1253=) c.3000A>G (p.Thr1000=) c.2088A>G (p.Thr696=) c.3849A>G (p.Thr1283=) n.6635A>G c.3963A>G (p.Thr1321=) | |
| 16 | g.48167595T>G | CA495442676 | ABCC11 | c.3957A>C (p.Thr1319=) c.3843A>C (p.Thr1281=) n.1257A>C c.3759A>C (p.Thr1253=) c.3000A>C (p.Thr1000=) c.2088A>C (p.Thr696=) c.3849A>C (p.Thr1283=) n.6635A>C c.3963A>C (p.Thr1321=) | |
| 16 | g.48167596G>A | CA8042967 | ABCC11 | c.3956C>T (p.Thr1319Ile) c.3842C>T (p.Thr1281Ile) n.1256C>T c.3758C>T (p.Thr1253Ile) c.2999C>T (p.Thr1000Ile) c.2087C>T (p.Thr696Ile) c.3848C>T (p.Thr1283Ile) n.6634C>T c.3962C>T (p.Thr1321Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.48167596G>C | CA395804440 | ABCC11 | c.3956C>G (p.Thr1319Arg) c.3842C>G (p.Thr1281Arg) n.1256C>G c.3758C>G (p.Thr1253Arg) c.2999C>G (p.Thr1000Arg) c.2087C>G (p.Thr696Arg) c.3848C>G (p.Thr1283Arg) n.6634C>G c.3962C>G (p.Thr1321Arg) | dbSNP gnomAD v4 |
| 16 | g.48167596G= | CA2220652544 | ABCC11 | c.3956C= (p.Thr1319=) c.3842C= (p.Thr1281=) n.1256C= c.3758C= (p.Thr1253=) c.2999C= (p.Thr1000=) c.2087C= (p.Thr696=) c.3848C= (p.Thr1283=) n.6634C= c.3962C= (p.Thr1321=) | |
| 16 | g.48167596G>T | CA8042966 | ABCC11 | c.3956C>A (p.Thr1319Lys) c.3842C>A (p.Thr1281Lys) n.1256C>A c.3758C>A (p.Thr1253Lys) c.2999C>A (p.Thr1000Lys) c.2087C>A (p.Thr696Lys) c.3848C>A (p.Thr1283Lys) n.6634C>A c.3962C>A (p.Thr1321Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.48167597T>A | CA395804444 | ABCC11 | c.3955A>T (p.Thr1319Ser) c.3841A>T (p.Thr1281Ser) n.1255A>T c.3757A>T (p.Thr1253Ser) c.2998A>T (p.Thr1000Ser) c.2086A>T (p.Thr696Ser) c.3847A>T (p.Thr1283Ser) n.6633A>T c.3961A>T (p.Thr1321Ser) | |
| 16 | g.48167597T>C | CA395804445 | ABCC11 | c.3955A>G (p.Thr1319Ala) c.3841A>G (p.Thr1281Ala) n.1255A>G c.3757A>G (p.Thr1253Ala) c.2998A>G (p.Thr1000Ala) c.2086A>G (p.Thr696Ala) c.3847A>G (p.Thr1283Ala) n.6633A>G c.3961A>G (p.Thr1321Ala) | |
| 16 | g.48167597T>G | CA395804447 | ABCC11 | c.3955A>C (p.Thr1319Pro) c.3841A>C (p.Thr1281Pro) n.1255A>C c.3757A>C (p.Thr1253Pro) c.2998A>C (p.Thr1000Pro) c.2086A>C (p.Thr696Pro) c.3847A>C (p.Thr1283Pro) n.6633A>C c.3961A>C (p.Thr1321Pro) | |
| 16 | g.48167598G>A | CA280260643 | ABCC11 | c.3954C>T (p.Arg1318=) c.3840C>T (p.Arg1280=) n.1254C>T c.3756C>T (p.Arg1252=) c.2997C>T (p.Arg999=) c.2085C>T (p.Arg695=) c.3846C>T (p.Arg1282=) n.6632C>T c.3960C>T (p.Arg1320=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.48167598G>C | CA495442677 | ABCC11 | c.3954C>G (p.Arg1318=) c.3840C>G (p.Arg1280=) n.1254C>G c.3756C>G (p.Arg1252=) c.2997C>G (p.Arg999=) c.2085C>G (p.Arg695=) c.3846C>G (p.Arg1282=) n.6632C>G c.3960C>G (p.Arg1320=) | |
| 16 | g.48167598G= | CA2220652553 | ABCC11 | c.3954C= (p.Arg1318=) c.3840C= (p.Arg1280=) n.1254C= c.3756C= (p.Arg1252=) c.2997C= (p.Arg999=) c.2085C= (p.Arg695=) c.3846C= (p.Arg1282=) n.6632C= c.3960C= (p.Arg1320=) | |
| 16 | g.48167598G>T | CA495442678 | ABCC11 | c.3954C>A (p.Arg1318=) c.3840C>A (p.Arg1280=) n.1254C>A c.3756C>A (p.Arg1252=) c.2997C>A (p.Arg999=) c.2085C>A (p.Arg695=) c.3846C>A (p.Arg1282=) n.6632C>A c.3960C>A (p.Arg1320=) | |
| 16 | g.48167599C>A | CA395804456 | ABCC11 | c.3953G>T (p.Arg1318Leu) c.3839G>T (p.Arg1280Leu) n.1253G>T c.3755G>T (p.Arg1252Leu) c.2996G>T (p.Arg999Leu) c.2084G>T (p.Arg695Leu) c.3845G>T (p.Arg1282Leu) n.6631G>T c.3959G>T (p.Arg1320Leu) | |
| 16 | g.48167599C= | CA2220652563 | ABCC11 | c.3953G= (p.Arg1318=) c.3839G= (p.Arg1280=) n.1253G= c.3755G= (p.Arg1252=) c.2996G= (p.Arg999=) c.2084G= (p.Arg695=) c.3845G= (p.Arg1282=) n.6631G= c.3959G= (p.Arg1320=) | |
| 16 | g.48167599C>G | CA395804459 | ABCC11 | c.3953G>C (p.Arg1318Pro) c.3839G>C (p.Arg1280Pro) n.1253G>C c.3755G>C (p.Arg1252Pro) c.2996G>C (p.Arg999Pro) c.2084G>C (p.Arg695Pro) c.3845G>C (p.Arg1282Pro) n.6631G>C c.3959G>C (p.Arg1320Pro) | |
| 16 | g.48167599C>T | CA8042968 | ABCC11 | c.3953G>A (p.Arg1318His) c.3839G>A (p.Arg1280His) n.1253G>A c.3755G>A (p.Arg1252His) c.2996G>A (p.Arg999His) c.2084G>A (p.Arg695His) c.3845G>A (p.Arg1282His) n.6631G>A c.3959G>A (p.Arg1320His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.48167600G>A | CA8042969 | ABCC11 | c.3952C>T (p.Arg1318Cys) c.3838C>T (p.Arg1280Cys) n.1252C>T c.3754C>T (p.Arg1252Cys) c.2995C>T (p.Arg999Cys) c.2083C>T (p.Arg695Cys) c.3844C>T (p.Arg1282Cys) n.6630C>T c.3958C>T (p.Arg1320Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.48167600G>C | CA395804463 | ABCC11 | c.3952C>G (p.Arg1318Gly) c.3838C>G (p.Arg1280Gly) n.1252C>G c.3754C>G (p.Arg1252Gly) c.2995C>G (p.Arg999Gly) c.2083C>G (p.Arg695Gly) c.3844C>G (p.Arg1282Gly) n.6630C>G c.3958C>G (p.Arg1320Gly) | |
| 16 | g.48167600G= | CA2220652567 | ABCC11 | c.3952C= (p.Arg1318=) c.3838C= (p.Arg1280=) n.1252C= c.3754C= (p.Arg1252=) c.2995C= (p.Arg999=) c.2083C= (p.Arg695=) c.3844C= (p.Arg1282=) n.6630C= c.3958C= (p.Arg1320=) | |
| 16 | g.48167600G>T | CA395804465 | ABCC11 | c.3952C>A (p.Arg1318Ser) c.3838C>A (p.Arg1280Ser) n.1252C>A c.3754C>A (p.Arg1252Ser) c.2995C>A (p.Arg999Ser) c.2083C>A (p.Arg695Ser) c.3844C>A (p.Arg1282Ser) n.6630C>A c.3958C>A (p.Arg1320Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.48167601C>A | CA395804468 | ABCC11 | c.3951G>T (p.Gln1317His) c.3837G>T (p.Gln1279His) n.1251G>T c.3753G>T (p.Gln1251His) c.2994G>T (p.Gln998His) c.2082G>T (p.Gln694His) c.3843G>T (p.Gln1281His) n.6629G>T c.3957G>T (p.Gln1319His) | gnomAD v4 |
| 16 | g.48167601C>G | CA395804471 | ABCC11 | c.3951G>C (p.Gln1317His) c.3837G>C (p.Gln1279His) n.1251G>C c.3753G>C (p.Gln1251His) c.2994G>C (p.Gln998His) c.2082G>C (p.Gln694His) c.3843G>C (p.Gln1281His) n.6629G>C c.3957G>C (p.Gln1319His) | |
| 16 | g.48167601C>T | CA495442679 | ABCC11 | c.3951G>A (p.Gln1317=) c.3837G>A (p.Gln1279=) n.1251G>A c.3753G>A (p.Gln1251=) c.2994G>A (p.Gln998=) c.2082G>A (p.Gln694=) c.3843G>A (p.Gln1281=) n.6629G>A c.3957G>A (p.Gln1319=) | gnomAD v4 COSMIC |
| 16 | g.48167602T>A | CA395804475 | ABCC11 | c.3950A>T (p.Gln1317Leu) c.3836A>T (p.Gln1279Leu) n.1250A>T c.3752A>T (p.Gln1251Leu) c.2993A>T (p.Gln998Leu) c.2081A>T (p.Gln694Leu) c.3842A>T (p.Gln1281Leu) n.6628A>T c.3956A>T (p.Gln1319Leu) | |
| 16 | g.48167602T>C | CA395804479 | ABCC11 | c.3950A>G (p.Gln1317Arg) c.3836A>G (p.Gln1279Arg) n.1250A>G c.3752A>G (p.Gln1251Arg) c.2993A>G (p.Gln998Arg) c.2081A>G (p.Gln694Arg) c.3842A>G (p.Gln1281Arg) n.6628A>G c.3956A>G (p.Gln1319Arg) | |
| 16 | g.48167602T>G | CA395804482 | ABCC11 | c.3950A>C (p.Gln1317Pro) c.3836A>C (p.Gln1279Pro) n.1250A>C c.3752A>C (p.Gln1251Pro) c.2993A>C (p.Gln998Pro) c.2081A>C (p.Gln694Pro) c.3842A>C (p.Gln1281Pro) n.6628A>C c.3956A>C (p.Gln1319Pro) | gnomAD v4 |
| 16 | g.48167603G>A | CA395804484 | ABCC11 | c.3949C>T (p.Gln1317Ter) c.3835C>T (p.Gln1279Ter) n.1249C>T c.3751C>T (p.Gln1251Ter) c.2992C>T (p.Gln998Ter) c.2080C>T (p.Gln694Ter) c.3841C>T (p.Gln1281Ter) n.6627C>T c.3955C>T (p.Gln1319Ter) | dbSNP |
| 16 | g.48167603G>C | CA395804487 | ABCC11 | c.3949C>G (p.Gln1317Glu) c.3835C>G (p.Gln1279Glu) n.1249C>G c.3751C>G (p.Gln1251Glu) c.2992C>G (p.Gln998Glu) c.2080C>G (p.Gln694Glu) c.3841C>G (p.Gln1281Glu) n.6627C>G c.3955C>G (p.Gln1319Glu) | |
| 16 | g.48167603G= | CA2220652573 | ABCC11 | c.3949C= (p.Gln1317=) c.3835C= (p.Gln1279=) n.1249C= c.3751C= (p.Gln1251=) c.2992C= (p.Gln998=) c.2080C= (p.Gln694=) c.3841C= (p.Gln1281=) n.6627C= c.3955C= (p.Gln1319=) | |
| 16 | g.48167603G>T | CA395804491 | ABCC11 | c.3949C>A (p.Gln1317Lys) c.3835C>A (p.Gln1279Lys) n.1249C>A c.3751C>A (p.Gln1251Lys) c.2992C>A (p.Gln998Lys) c.2080C>A (p.Gln694Lys) c.3841C>A (p.Gln1281Lys) n.6627C>A c.3955C>A (p.Gln1319Lys) |