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 |
|---|---|---|---|---|---|
| 11 | g.67490174_67490178del | CA2614623321 | AIP | c.582_586del c.416_420del (p.Tyr139Ter) n.1117_1121del c.468+719_468+723del (n.468+719_468+723del) c.236_240del (p.Tyr79Ter) c.605_609del (p.Tyr202Ter) c.428_432del (p.Tyr143Ter) c.425_429del (p.Tyr142Ter) c.257_261del (p.Tyr86Ter) | gnomAD v4 |
| 11 | g.67490175C>A | CA381551135 | AIP | c.583C>A c.417C>A (p.Tyr139Ter) n.1118C>A c.468+720C>A (n.468+720C>A) c.237C>A (p.Tyr79Ter) c.606C>A (p.Tyr202Ter) c.429C>A (p.Tyr143Ter) c.426C>A (p.Tyr142Ter) c.258C>A (p.Tyr86Ter) | |
| 11 | g.67490175C>G | CA381551136 | AIP | c.583C>G c.417C>G (p.Tyr139Ter) n.1118C>G c.468+720C>G (n.468+720C>G) c.237C>G (p.Tyr79Ter) c.606C>G (p.Tyr202Ter) c.429C>G (p.Tyr143Ter) c.426C>G (p.Tyr142Ter) c.258C>G (p.Tyr86Ter) | ClinVar gnomAD v4 |
| 11 | g.67490175C>T | CA475509265 | AIP | c.583C>T c.417C>T (p.Tyr139=) n.1118C>T c.468+720C>T (n.468+720C>T) c.237C>T (p.Tyr79=) c.606C>T (p.Tyr202=) c.429C>T (p.Tyr143=) c.426C>T (p.Tyr142=) c.258C>T (p.Tyr86=) | ClinVar |
| 11 | g.67490176T>A | CA381551140 | AIP | c.584T>A c.418T>A (p.Tyr140Asn) n.1119T>A c.468+721T>A (n.468+721T>A) c.238T>A (p.Tyr80Asn) c.607T>A (p.Tyr203Asn) c.430T>A (p.Tyr144Asn) c.427T>A (p.Tyr143Asn) c.259T>A (p.Tyr87Asn) | |
| 11 | g.67490176T>C | CA381551141 | AIP | c.584T>C c.418T>C (p.Tyr140His) n.1119T>C c.468+721T>C (n.468+721T>C) c.238T>C (p.Tyr80His) c.607T>C (p.Tyr203His) c.430T>C (p.Tyr144His) c.427T>C (p.Tyr143His) c.259T>C (p.Tyr87His) | ClinVar |
| 11 | g.67490176T>G | CA381551142 | AIP | c.584T>G c.418T>G (p.Tyr140Asp) n.1119T>G c.468+721T>G (n.468+721T>G) c.238T>G (p.Tyr80Asp) c.607T>G (p.Tyr203Asp) c.430T>G (p.Tyr144Asp) c.427T>G (p.Tyr143Asp) c.259T>G (p.Tyr87Asp) | ClinVar dbSNP |
| 11 | g.67490176_67490177dup | CA2580610711 | AIP | c.584_585dup c.418_419dup (p.Asp141ThrfsTer12) n.1119_1120dup c.468+721_468+722dup (n.468+721_468+722dup) c.238_239dup (p.Asp81ThrfsTer12) c.607_608dup (p.Asp204ThrfsTer12) c.430_431dup (p.Asp145ThrfsTer12) c.427_428dup (p.Asp144ThrfsTer12) c.259_260dup (p.Asp88ThrfsTer12) | |
| 11 | g.67490177A= | CA1980172331 | AIP | c.585A= c.419A= (p.Tyr140=) n.1120A= c.468+722A= (n.468+722A=) c.239A= (p.Tyr80=) c.608A= (p.Tyr203=) c.431A= (p.Tyr144=) c.428A= (p.Tyr143=) c.260A= (p.Tyr87=) | |
| 11 | g.67490177A>C | CA381551143 | AIP | c.585A>C c.419A>C (p.Tyr140Ser) n.1120A>C c.468+722A>C (n.468+722A>C) c.239A>C (p.Tyr80Ser) c.608A>C (p.Tyr203Ser) c.431A>C (p.Tyr144Ser) c.428A>C (p.Tyr143Ser) c.260A>C (p.Tyr87Ser) | |
| 11 | g.67490177A>G | CA6140877 | AIP | c.585A>G c.419A>G (p.Tyr140Cys) n.1120A>G c.468+722A>G (n.468+722A>G) c.239A>G (p.Tyr80Cys) c.608A>G (p.Tyr203Cys) c.431A>G (p.Tyr144Cys) c.428A>G (p.Tyr143Cys) c.260A>G (p.Tyr87Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.67490177A>T | CA381551145 | AIP | c.585A>T c.419A>T (p.Tyr140Phe) n.1120A>T c.468+722A>T (n.468+722A>T) c.239A>T (p.Tyr80Phe) c.608A>T (p.Tyr203Phe) c.431A>T (p.Tyr144Phe) c.428A>T (p.Tyr143Phe) c.260A>T (p.Tyr87Phe) | |
| 11 | g.67490178C>A | CA381551150 | AIP | c.586C>A c.420C>A (p.Tyr140Ter) n.1121C>A c.468+723C>A (n.468+723C>A) c.240C>A (p.Tyr80Ter) c.609C>A (p.Tyr203Ter) c.432C>A (p.Tyr144Ter) c.429C>A (p.Tyr143Ter) c.261C>A (p.Tyr87Ter) | |
| 11 | g.67490178C= | CA1980172332 | AIP | c.586C= c.420C= (p.Tyr140=) n.1121C= c.468+723C= (n.468+723C=) c.240C= (p.Tyr80=) c.609C= (p.Tyr203=) c.432C= (p.Tyr144=) c.429C= (p.Tyr143=) c.261C= (p.Tyr87=) | |
| 11 | g.67490178C>G | CA381551151 | AIP | c.586C>G c.420C>G (p.Tyr140Ter) n.1121C>G c.468+723C>G (n.468+723C>G) c.240C>G (p.Tyr80Ter) c.609C>G (p.Tyr203Ter) c.432C>G (p.Tyr144Ter) c.429C>G (p.Tyr143Ter) c.261C>G (p.Tyr87Ter) | |
| 11 | g.67490178C>T | CA6140878 | AIP | c.586C>T c.420C>T (p.Tyr140=) n.1121C>T c.468+723C>T (n.468+723C>T) c.240C>T (p.Tyr80=) c.609C>T (p.Tyr203=) c.432C>T (p.Tyr144=) c.429C>T (p.Tyr143=) c.261C>T (p.Tyr87=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.67490179G>A | CA6140879 | AIP | c.587G>A c.421G>A (p.Asp141Asn) n.1122G>A c.468+724G>A (n.468+724G>A) c.241G>A (p.Asp81Asn) c.610G>A (p.Asp204Asn) c.433G>A (p.Asp145Asn) c.430G>A (p.Asp144Asn) c.262G>A (p.Asp88Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.67490179G>C | CA381551162 | AIP | c.587G>C c.421G>C (p.Asp141His) n.1122G>C c.468+724G>C (n.468+724G>C) c.241G>C (p.Asp81His) c.610G>C (p.Asp204His) c.433G>C (p.Asp145His) c.430G>C (p.Asp144His) c.262G>C (p.Asp88His) | ClinVar |
| 11 | g.67490179G= | CA1980172333 | AIP | c.587G= c.421G= (p.Asp141=) n.1122G= c.468+724G= (n.468+724G=) c.241G= (p.Asp81=) c.610G= (p.Asp204=) c.433G= (p.Asp145=) c.430G= (p.Asp144=) c.262G= (p.Asp88=) | |
| 11 | g.67490179G>T | CA381551159 | AIP | c.587G>T c.421G>T (p.Asp141Tyr) n.1122G>T c.468+724G>T (n.468+724G>T) c.241G>T (p.Asp81Tyr) c.610G>T (p.Asp204Tyr) c.433G>T (p.Asp145Tyr) c.430G>T (p.Asp144Tyr) c.262G>T (p.Asp88Tyr) | |
| 11 | g.67490180A= | CA1980172334 | AIP | c.588A= c.422A= (p.Asp141=) n.1123A= c.468+725A= (n.468+725A=) c.242A= (p.Asp81=) c.611A= (p.Asp204=) c.434A= (p.Asp145=) c.431A= (p.Asp144=) c.263A= (p.Asp88=) | |
| 11 | g.67490180A>C | CA381551170 | AIP | c.588A>C c.422A>C (p.Asp141Ala) n.1123A>C c.468+725A>C (n.468+725A>C) c.242A>C (p.Asp81Ala) c.611A>C (p.Asp204Ala) c.434A>C (p.Asp145Ala) c.431A>C (p.Asp144Ala) c.263A>C (p.Asp88Ala) | |
| 11 | g.67490180A>G | CA381551167 | AIP | c.588A>G c.422A>G (p.Asp141Gly) n.1123A>G c.468+725A>G (n.468+725A>G) c.242A>G (p.Asp81Gly) c.611A>G (p.Asp204Gly) c.434A>G (p.Asp145Gly) c.431A>G (p.Asp144Gly) c.263A>G (p.Asp88Gly) | ClinVar dbSNP |
| 11 | g.67490180A>T | CA381551169 | AIP | c.588A>T c.422A>T (p.Asp141Val) n.1123A>T c.468+725A>T (n.468+725A>T) c.242A>T (p.Asp81Val) c.611A>T (p.Asp204Val) c.434A>T (p.Asp145Val) c.431A>T (p.Asp144Val) c.263A>T (p.Asp88Val) | |
| 11 | g.67490181T>A | CA381551174 | AIP | c.589T>A c.423T>A (p.Asp141Glu) n.1124T>A c.468+726T>A (n.468+726T>A) c.243T>A (p.Asp81Glu) c.612T>A (p.Asp204Glu) c.435T>A (p.Asp145Glu) c.432T>A (p.Asp144Glu) c.264T>A (p.Asp88Glu) | |
| 11 | g.67490181T>C | CA224165076 | AIP | c.589T>C c.423T>C (p.Asp141=) n.1124T>C c.468+726T>C (n.468+726T>C) c.243T>C (p.Asp81=) c.612T>C (p.Asp204=) c.435T>C (p.Asp145=) c.432T>C (p.Asp144=) c.264T>C (p.Asp88=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.67490181T>G | CA381551180 | AIP | c.589T>G c.423T>G (p.Asp141Glu) n.1124T>G c.468+726T>G (n.468+726T>G) c.243T>G (p.Asp81Glu) c.612T>G (p.Asp204Glu) c.435T>G (p.Asp145Glu) c.432T>G (p.Asp144Glu) c.264T>G (p.Asp88Glu) | |
| 11 | g.67490181T= | CA1980172335 | AIP | c.589T= c.423T= (p.Asp141=) n.1124T= c.468+726T= (n.468+726T=) c.243T= (p.Asp81=) c.612T= (p.Asp204=) c.435T= (p.Asp145=) c.432T= (p.Asp144=) c.264T= (p.Asp88=) | |
| 11 | g.67490181_67490195del | CA2614623341 | AIP | c.589_603del c.423_437del (p.Ala142_Leu146del) n.1124_1138del c.468+726_468+740del (n.468+726_468+740del) c.243_257del (p.Ala82_Leu86del) c.612_626del (p.Ala205_Leu209del) c.435_449del (p.Ala146_Leu150del) c.432_446del (p.Ala145_Leu149del) c.264_278del (p.Ala89_Leu93del) | gnomAD v4 |
| 11 | g.67490182G>A | CA381551185 | AIP | c.590G>A c.424G>A (p.Ala142Thr) n.1125G>A c.468+727G>A (n.468+727G>A) c.244G>A (p.Ala82Thr) c.613G>A (p.Ala205Thr) c.436G>A (p.Ala146Thr) c.433G>A (p.Ala145Thr) c.265G>A (p.Ala89Thr) | |
| 11 | g.67490182G>C | CA381551188 | AIP | c.590G>C c.424G>C (p.Ala142Pro) n.1125G>C c.468+727G>C (n.468+727G>C) c.244G>C (p.Ala82Pro) c.613G>C (p.Ala205Pro) c.436G>C (p.Ala146Pro) c.433G>C (p.Ala145Pro) c.265G>C (p.Ala89Pro) | |
| 11 | g.67490182G>T | CA381551189 | AIP | c.590G>T c.424G>T (p.Ala142Ser) n.1125G>T c.468+727G>T (n.468+727G>T) c.244G>T (p.Ala82Ser) c.613G>T (p.Ala205Ser) c.436G>T (p.Ala146Ser) c.433G>T (p.Ala145Ser) c.265G>T (p.Ala89Ser) | |
| 11 | g.67490183C>A | CA381551190 | AIP | c.591C>A c.425C>A (p.Ala142Asp) n.1126C>A c.468+728C>A (n.468+728C>A) c.245C>A (p.Ala82Asp) c.614C>A (p.Ala205Asp) c.437C>A (p.Ala146Asp) c.434C>A (p.Ala145Asp) c.266C>A (p.Ala89Asp) | |
| 11 | g.67490183C>G | CA381551192 | AIP | c.591C>G c.425C>G (p.Ala142Gly) n.1126C>G c.468+728C>G (n.468+728C>G) c.245C>G (p.Ala82Gly) c.614C>G (p.Ala205Gly) c.437C>G (p.Ala146Gly) c.434C>G (p.Ala145Gly) c.266C>G (p.Ala89Gly) | ClinVar |
| 11 | g.67490183C>T | CA381551195 | AIP | c.591C>T c.425C>T (p.Ala142Val) n.1126C>T c.468+728C>T (n.468+728C>T) c.245C>T (p.Ala82Val) c.614C>T (p.Ala205Val) c.437C>T (p.Ala146Val) c.434C>T (p.Ala145Val) c.266C>T (p.Ala89Val) | COSMIC |
| 11 | g.67490184C>A | CA475509270 | AIP | c.592C>A c.426C>A (p.Ala142=) n.1127C>A c.468+729C>A (n.468+729C>A) c.246C>A (p.Ala82=) c.615C>A (p.Ala205=) c.438C>A (p.Ala146=) c.435C>A (p.Ala145=) c.267C>A (p.Ala89=) | |
| 11 | g.67490184C= | CA1980172336 | AIP | c.592C= c.426C= (p.Ala142=) n.1127C= c.468+729C= (n.468+729C=) c.246C= (p.Ala82=) c.615C= (p.Ala205=) c.438C= (p.Ala146=) c.435C= (p.Ala145=) c.267C= (p.Ala89=) | |
| 11 | g.67490184C>G | CA6140880 | AIP | c.592C>G c.426C>G (p.Ala142=) n.1127C>G c.468+729C>G (n.468+729C>G) c.246C>G (p.Ala82=) c.615C>G (p.Ala205=) c.438C>G (p.Ala146=) c.435C>G (p.Ala145=) c.267C>G (p.Ala89=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.67490184C>T | CA475509272 | AIP | c.592C>T c.426C>T (p.Ala142=) n.1127C>T c.468+729C>T (n.468+729C>T) c.246C>T (p.Ala82=) c.615C>T (p.Ala205=) c.438C>T (p.Ala146=) c.435C>T (p.Ala145=) c.267C>T (p.Ala89=) | ClinVar |
| 11 | g.67490185A= | CA1980172337 | AIP | c.593A= c.427A= (p.Ile143=) n.1128A= c.468+730A= (n.468+730A=) c.247A= (p.Ile83=) c.616A= (p.Ile206=) c.439A= (p.Ile147=) c.436A= (p.Ile146=) c.268A= (p.Ile90=) | |
| 11 | g.67490185A>C | CA381551204 | AIP | c.593A>C c.427A>C (p.Ile143Leu) n.1128A>C c.468+730A>C (n.468+730A>C) c.247A>C (p.Ile83Leu) c.616A>C (p.Ile206Leu) c.439A>C (p.Ile147Leu) c.436A>C (p.Ile146Leu) c.268A>C (p.Ile90Leu) | |
| 11 | g.67490185A>G | CA381551200 | AIP | c.593A>G c.427A>G (p.Ile143Val) n.1128A>G c.468+730A>G (n.468+730A>G) c.247A>G (p.Ile83Val) c.616A>G (p.Ile206Val) c.439A>G (p.Ile147Val) c.436A>G (p.Ile146Val) c.268A>G (p.Ile90Val) | dbSNP |
| 11 | g.67490185A>T | CA381551198 | AIP | c.593A>T c.427A>T (p.Ile143Phe) n.1128A>T c.468+730A>T (n.468+730A>T) c.247A>T (p.Ile83Phe) c.616A>T (p.Ile206Phe) c.439A>T (p.Ile147Phe) c.436A>T (p.Ile146Phe) c.268A>T (p.Ile90Phe) | |
| 11 | g.67490186T>A | CA381551211 | AIP | c.594T>A c.428T>A (p.Ile143Asn) n.1129T>A c.468+731T>A (n.468+731T>A) c.248T>A (p.Ile83Asn) c.617T>A (p.Ile206Asn) c.440T>A (p.Ile147Asn) c.437T>A (p.Ile146Asn) c.269T>A (p.Ile90Asn) | |
| 11 | g.67490186T>C | CA381551215 | AIP | c.594T>C c.428T>C (p.Ile143Thr) n.1129T>C c.468+731T>C (n.468+731T>C) c.248T>C (p.Ile83Thr) c.617T>C (p.Ile206Thr) c.440T>C (p.Ile147Thr) c.437T>C (p.Ile146Thr) c.269T>C (p.Ile90Thr) | ClinVar |
| 11 | g.67490186T>G | CA381551216 | AIP | c.594T>G c.428T>G (p.Ile143Ser) n.1129T>G c.468+731T>G (n.468+731T>G) c.248T>G (p.Ile83Ser) c.617T>G (p.Ile206Ser) c.440T>G (p.Ile147Ser) c.437T>G (p.Ile146Ser) c.269T>G (p.Ile90Ser) | |
| 11 | g.67490187T>A | CA475509281 | AIP | c.595T>A c.429T>A (p.Ile143=) n.1130T>A c.468+732T>A (n.468+732T>A) c.249T>A (p.Ile83=) c.618T>A (p.Ile206=) c.441T>A (p.Ile147=) c.438T>A (p.Ile146=) c.270T>A (p.Ile90=) | |
| 11 | g.67490187T>C | CA475509284 | AIP | c.595T>C c.429T>C (p.Ile143=) n.1130T>C c.468+732T>C (n.468+732T>C) c.249T>C (p.Ile83=) c.618T>C (p.Ile206=) c.441T>C (p.Ile147=) c.438T>C (p.Ile146=) c.270T>C (p.Ile90=) | |
| 11 | g.67490187T>G | CA381551217 | AIP | c.595T>G c.429T>G (p.Ile143Met) n.1130T>G c.468+732T>G (n.468+732T>G) c.249T>G (p.Ile83Met) c.618T>G (p.Ile206Met) c.441T>G (p.Ile147Met) c.438T>G (p.Ile146Met) c.270T>G (p.Ile90Met) | |
| 11 | g.67490188del | CA1139655036 | AIP | c.596del c.430del (p.Ala144ProfsTer8) n.1131del c.468+733del (n.468+733del) c.250del (p.Ala84ProfsTer8) c.619del (p.Ala207ProfsTer8) c.442del (p.Ala148ProfsTer8) c.439del (p.Ala147ProfsTer8) c.271del (p.Ala91ProfsTer8) |