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 |
|---|---|---|---|---|---|
| 19 | g.7119468C>A | CA403669042 | INSR | c.3775G>T (p.Asp1259Tyr) c.3739G>T (p.Asp1247Tyr) c.3850G>T (p.Asp1284Tyr) c.3814G>T (p.Asp1272Tyr) c.3772G>T (p.Asp1258Tyr) c.3736G>T (p.Asp1246Tyr) | |
| 19 | g.7119468C= | CA2320764824 | INSR | c.3775G= (p.Asp1259=) c.3739G= (p.Asp1247=) c.3850G= (p.Asp1284=) c.3814G= (p.Asp1272=) c.3772G= (p.Asp1258=) c.3736G= (p.Asp1246=) | |
| 19 | g.7119468C>G | CA403669041 | INSR | c.3775G>C (p.Asp1259His) c.3739G>C (p.Asp1247His) c.3850G>C (p.Asp1284His) c.3814G>C (p.Asp1272His) c.3772G>C (p.Asp1258His) c.3736G>C (p.Asp1246His) | |
| 19 | g.7119468C>T | CA9135155 | INSR | c.3775G>A (p.Asp1259Asn) c.3739G>A (p.Asp1247Asn) c.3850G>A (p.Asp1284Asn) c.3814G>A (p.Asp1272Asn) c.3772G>A (p.Asp1258Asn) c.3736G>A (p.Asp1246Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7119469G>A | CA505216428 | INSR | c.3774C>T (p.Pro1258=) c.3738C>T (p.Pro1246=) c.3849C>T (p.Pro1283=) c.3813C>T (p.Pro1271=) c.3771C>T (p.Pro1257=) c.3735C>T (p.Pro1245=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7119469G>C | CA505216427 | INSR | c.3774C>G (p.Pro1258=) c.3738C>G (p.Pro1246=) c.3849C>G (p.Pro1283=) c.3813C>G (p.Pro1271=) c.3771C>G (p.Pro1257=) c.3735C>G (p.Pro1245=) | |
| 19 | g.7119469G= | CA2320764825 | INSR | c.3774C= (p.Pro1258=) c.3738C= (p.Pro1246=) c.3849C= (p.Pro1283=) c.3813C= (p.Pro1271=) c.3771C= (p.Pro1257=) c.3735C= (p.Pro1245=) | |
| 19 | g.7119469G>T | CA505216426 | INSR | c.3774C>A (p.Pro1258=) c.3738C>A (p.Pro1246=) c.3849C>A (p.Pro1283=) c.3813C>A (p.Pro1271=) c.3771C>A (p.Pro1257=) c.3735C>A (p.Pro1245=) | gnomAD v4 |
| 19 | g.7119470G>A | CA403669043 | INSR | c.3773C>T (p.Pro1258Leu) c.3737C>T (p.Pro1246Leu) c.3848C>T (p.Pro1283Leu) c.3812C>T (p.Pro1271Leu) c.3770C>T (p.Pro1257Leu) c.3734C>T (p.Pro1245Leu) | |
| 19 | g.7119470G>C | CA403669044 | INSR | c.3773C>G (p.Pro1258Arg) c.3737C>G (p.Pro1246Arg) c.3848C>G (p.Pro1283Arg) c.3812C>G (p.Pro1271Arg) c.3770C>G (p.Pro1257Arg) c.3734C>G (p.Pro1245Arg) | |
| 19 | g.7119470G= | CA2320764826 | INSR | c.3773C= (p.Pro1258=) c.3737C= (p.Pro1246=) c.3848C= (p.Pro1283=) c.3812C= (p.Pro1271=) c.3770C= (p.Pro1257=) c.3734C= (p.Pro1245=) | |
| 19 | g.7119470G>T | CA9135156 | INSR | c.3773C>A (p.Pro1258His) c.3737C>A (p.Pro1246His) c.3848C>A (p.Pro1283His) c.3812C>A (p.Pro1271His) c.3770C>A (p.Pro1257His) c.3734C>A (p.Pro1245His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.7119471G>A | CA403669045 | INSR | c.3772C>T (p.Pro1258Ser) c.3736C>T (p.Pro1246Ser) c.3847C>T (p.Pro1283Ser) c.3811C>T (p.Pro1271Ser) c.3769C>T (p.Pro1257Ser) c.3733C>T (p.Pro1245Ser) | gnomAD v4 |
| 19 | g.7119471G>C | CA403669046 | INSR | c.3772C>G (p.Pro1258Ala) c.3736C>G (p.Pro1246Ala) c.3847C>G (p.Pro1283Ala) c.3811C>G (p.Pro1271Ala) c.3769C>G (p.Pro1257Ala) c.3733C>G (p.Pro1245Ala) | |
| 19 | g.7119471G>T | CA403669047 | INSR | c.3772C>A (p.Pro1258Thr) c.3736C>A (p.Pro1246Thr) c.3847C>A (p.Pro1283Thr) c.3811C>A (p.Pro1271Thr) c.3769C>A (p.Pro1257Thr) c.3733C>A (p.Pro1245Thr) | |
| 19 | g.7119472T>A | CA403669048 | INSR | c.3771A>T (p.Gln1257His) c.3735A>T (p.Gln1245His) c.3846A>T (p.Gln1282His) c.3810A>T (p.Gln1270His) c.3768A>T (p.Gln1256His) c.3732A>T (p.Gln1244His) | |
| 19 | g.7119472T>C | CA505216430 | INSR | c.3771A>G (p.Gln1257=) c.3735A>G (p.Gln1245=) c.3846A>G (p.Gln1282=) c.3810A>G (p.Gln1270=) c.3768A>G (p.Gln1256=) c.3732A>G (p.Gln1244=) | COSMIC COSMIC |
| 19 | g.7119472T>G | CA403669049 | INSR | c.3771A>C (p.Gln1257His) c.3735A>C (p.Gln1245His) c.3846A>C (p.Gln1282His) c.3810A>C (p.Gln1270His) c.3768A>C (p.Gln1256His) c.3732A>C (p.Gln1244His) | |
| 19 | g.7119473T>A | CA403669050 | INSR | c.3770A>T (p.Gln1257Leu) c.3734A>T (p.Gln1245Leu) c.3845A>T (p.Gln1282Leu) c.3809A>T (p.Gln1270Leu) c.3767A>T (p.Gln1256Leu) c.3731A>T (p.Gln1244Leu) | |
| 19 | g.7119473T>C | CA403669051 | INSR | c.3770A>G (p.Gln1257Arg) c.3734A>G (p.Gln1245Arg) c.3845A>G (p.Gln1282Arg) c.3809A>G (p.Gln1270Arg) c.3767A>G (p.Gln1256Arg) c.3731A>G (p.Gln1244Arg) | |
| 19 | g.7119473T>G | CA403669052 | INSR | c.3770A>C (p.Gln1257Pro) c.3734A>C (p.Gln1245Pro) c.3845A>C (p.Gln1282Pro) c.3809A>C (p.Gln1270Pro) c.3767A>C (p.Gln1256Pro) c.3731A>C (p.Gln1244Pro) | |
| 19 | g.7119474G>A | CA403669055 | INSR | c.3769C>T (p.Gln1257Ter) c.3733C>T (p.Gln1245Ter) c.3844C>T (p.Gln1282Ter) c.3808C>T (p.Gln1270Ter) c.3766C>T (p.Gln1256Ter) c.3730C>T (p.Gln1244Ter) | |
| 19 | g.7119474G>C | CA403669054 | INSR | c.3769C>G (p.Gln1257Glu) c.3733C>G (p.Gln1245Glu) c.3844C>G (p.Gln1282Glu) c.3808C>G (p.Gln1270Glu) c.3766C>G (p.Gln1256Glu) c.3730C>G (p.Gln1244Glu) | COSMIC COSMIC |
| 19 | g.7119474G>T | CA403669053 | INSR | c.3769C>A (p.Gln1257Lys) c.3733C>A (p.Gln1245Lys) c.3844C>A (p.Gln1282Lys) c.3808C>A (p.Gln1270Lys) c.3766C>A (p.Gln1256Lys) c.3730C>A (p.Gln1244Lys) | |
| 19 | g.7119475A>C | CA403669056 | INSR | c.3768T>G (p.Asp1256Glu) c.3732T>G (p.Asp1244Glu) c.3843T>G (p.Asp1281Glu) c.3807T>G (p.Asp1269Glu) c.3765T>G (p.Asp1255Glu) c.3729T>G (p.Asp1243Glu) | |
| 19 | g.7119475A>G | CA505216435 | INSR | c.3768T>C (p.Asp1256=) c.3732T>C (p.Asp1244=) c.3843T>C (p.Asp1281=) c.3807T>C (p.Asp1269=) c.3765T>C (p.Asp1255=) c.3729T>C (p.Asp1243=) | |
| 19 | g.7119475A>T | CA403669057 | INSR | c.3768T>A (p.Asp1256Glu) c.3732T>A (p.Asp1244Glu) c.3843T>A (p.Asp1281Glu) c.3807T>A (p.Asp1269Glu) c.3765T>A (p.Asp1255Glu) c.3729T>A (p.Asp1243Glu) | |
| 19 | g.7119476T>A | CA403669058 | INSR | c.3767A>T (p.Asp1256Val) c.3731A>T (p.Asp1244Val) c.3842A>T (p.Asp1281Val) c.3806A>T (p.Asp1269Val) c.3764A>T (p.Asp1255Val) c.3728A>T (p.Asp1243Val) | |
| 19 | g.7119476T>C | CA403669059 | INSR | c.3767A>G (p.Asp1256Gly) c.3731A>G (p.Asp1244Gly) c.3842A>G (p.Asp1281Gly) c.3806A>G (p.Asp1269Gly) c.3764A>G (p.Asp1255Gly) c.3728A>G (p.Asp1243Gly) | |
| 19 | g.7119476T>G | CA403669060 | INSR | c.3767A>C (p.Asp1256Ala) c.3731A>C (p.Asp1244Ala) c.3842A>C (p.Asp1281Ala) c.3806A>C (p.Asp1269Ala) c.3764A>C (p.Asp1255Ala) c.3728A>C (p.Asp1243Ala) | |
| 19 | g.7119477C>A | CA403669061 | INSR | c.3766G>T (p.Asp1256Tyr) c.3730G>T (p.Asp1244Tyr) c.3841G>T (p.Asp1281Tyr) c.3805G>T (p.Asp1269Tyr) c.3763G>T (p.Asp1255Tyr) c.3727G>T (p.Asp1243Tyr) | |
| 19 | g.7119477C>G | CA403669062 | INSR | c.3766G>C (p.Asp1256His) c.3730G>C (p.Asp1244His) c.3841G>C (p.Asp1281His) c.3805G>C (p.Asp1269His) c.3763G>C (p.Asp1255His) c.3727G>C (p.Asp1243His) | gnomAD v4 |
| 19 | g.7119477C>T | CA403669063 | INSR | c.3766G>A (p.Asp1256Asn) c.3730G>A (p.Asp1244Asn) c.3841G>A (p.Asp1281Asn) c.3805G>A (p.Asp1269Asn) c.3763G>A (p.Asp1255Asn) c.3727G>A (p.Asp1243Asn) | |
| 19 | g.7119478C>A | CA505216437 | INSR | c.3765G>T (p.Leu1255=) c.3729G>T (p.Leu1243=) c.3840G>T (p.Leu1280=) c.3804G>T (p.Leu1268=) c.3762G>T (p.Leu1254=) c.3726G>T (p.Leu1242=) | |
| 19 | g.7119478C= | CA2320764827 | INSR | c.3765G= (p.Leu1255=) c.3729G= (p.Leu1243=) c.3840G= (p.Leu1280=) c.3804G= (p.Leu1268=) c.3762G= (p.Leu1254=) c.3726G= (p.Leu1242=) | |
| 19 | g.7119478C>G | CA505216436 | INSR | c.3765G>C (p.Leu1255=) c.3729G>C (p.Leu1243=) c.3840G>C (p.Leu1280=) c.3804G>C (p.Leu1268=) c.3762G>C (p.Leu1254=) c.3726G>C (p.Leu1242=) | |
| 19 | g.7119478C>T | CA9135157 | INSR | c.3765G>A (p.Leu1255=) c.3729G>A (p.Leu1243=) c.3840G>A (p.Leu1280=) c.3804G>A (p.Leu1268=) c.3762G>A (p.Leu1254=) c.3726G>A (p.Leu1242=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.7119479A>C | CA403669064 | INSR | c.3764T>G (p.Leu1255Arg) c.3728T>G (p.Leu1243Arg) c.3839T>G (p.Leu1280Arg) c.3803T>G (p.Leu1268Arg) c.3761T>G (p.Leu1254Arg) c.3725T>G (p.Leu1242Arg) | |
| 19 | g.7119479A>G | CA403669065 | INSR | c.3764T>C (p.Leu1255Pro) c.3728T>C (p.Leu1243Pro) c.3839T>C (p.Leu1280Pro) c.3803T>C (p.Leu1268Pro) c.3761T>C (p.Leu1254Pro) c.3725T>C (p.Leu1242Pro) | |
| 19 | g.7119479A>T | CA403669066 | INSR | c.3764T>A (p.Leu1255Gln) c.3728T>A (p.Leu1243Gln) c.3839T>A (p.Leu1280Gln) c.3803T>A (p.Leu1268Gln) c.3761T>A (p.Leu1254Gln) c.3725T>A (p.Leu1242Gln) | |
| 19 | g.7119480G>A | CA505216438 | INSR | c.3763C>T (p.Leu1255=) c.3727C>T (p.Leu1243=) c.3838C>T (p.Leu1280=) c.3802C>T (p.Leu1268=) c.3760C>T (p.Leu1254=) c.3724C>T (p.Leu1242=) | |
| 19 | g.7119480G>C | CA403669068 | INSR | c.3763C>G (p.Leu1255Val) c.3727C>G (p.Leu1243Val) c.3838C>G (p.Leu1280Val) c.3802C>G (p.Leu1268Val) c.3760C>G (p.Leu1254Val) c.3724C>G (p.Leu1242Val) | |
| 19 | g.7119480G>T | CA403669067 | INSR | c.3763C>A (p.Leu1255Met) c.3727C>A (p.Leu1243Met) c.3838C>A (p.Leu1280Met) c.3802C>A (p.Leu1268Met) c.3760C>A (p.Leu1254Met) c.3724C>A (p.Leu1242Met) | gnomAD v4 |
| 19 | g.7119481A>C | CA403669069 | INSR | c.3762T>G (p.Tyr1254Ter) c.3726T>G (p.Tyr1242Ter) c.3837T>G (p.Tyr1279Ter) c.3801T>G (p.Tyr1267Ter) c.3759T>G (p.Tyr1253Ter) c.3723T>G (p.Tyr1241Ter) | |
| 19 | g.7119481A>G | CA505216439 | INSR | c.3762T>C (p.Tyr1254=) c.3726T>C (p.Tyr1242=) c.3837T>C (p.Tyr1279=) c.3801T>C (p.Tyr1267=) c.3759T>C (p.Tyr1253=) c.3723T>C (p.Tyr1241=) | |
| 19 | g.7119481A>T | CA403669070 | INSR | c.3762T>A (p.Tyr1254Ter) c.3726T>A (p.Tyr1242Ter) c.3837T>A (p.Tyr1279Ter) c.3801T>A (p.Tyr1267Ter) c.3759T>A (p.Tyr1253Ter) c.3723T>A (p.Tyr1241Ter) | |
| 19 | g.7119482T>A | CA403669071 | INSR | c.3761A>T (p.Tyr1254Phe) c.3725A>T (p.Tyr1242Phe) c.3836A>T (p.Tyr1279Phe) c.3800A>T (p.Tyr1267Phe) c.3758A>T (p.Tyr1253Phe) c.3722A>T (p.Tyr1241Phe) | |
| 19 | g.7119482T>C | CA403669072 | INSR | c.3761A>G (p.Tyr1254Cys) c.3725A>G (p.Tyr1242Cys) c.3836A>G (p.Tyr1279Cys) c.3800A>G (p.Tyr1267Cys) c.3758A>G (p.Tyr1253Cys) c.3722A>G (p.Tyr1241Cys) | gnomAD v4 |
| 19 | g.7119482T>G | CA403669073 | INSR | c.3761A>C (p.Tyr1254Ser) c.3725A>C (p.Tyr1242Ser) c.3836A>C (p.Tyr1279Ser) c.3800A>C (p.Tyr1267Ser) c.3758A>C (p.Tyr1253Ser) c.3722A>C (p.Tyr1241Ser) | |
| 19 | g.7119483A= | CA2320764828 | INSR | c.3760T= (p.Tyr1254=) c.3724T= (p.Tyr1242=) c.3835T= (p.Tyr1279=) c.3799T= (p.Tyr1267=) c.3757T= (p.Tyr1253=) c.3721T= (p.Tyr1241=) |