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 |
|---|---|---|---|---|---|
| 9 | g.94603537_94603549dup | CA2690770935 | FBP1 | c.1009_1021dup (n.1009_1021dup) c.849_861dup (p.Val288ProfsTer?) c.654_666dup (p.Val223ProfsTer?) c.603_615dup (p.Val206ProfsTer?) | gnomAD v4 |
| 9 | g.94603547G>A | CA374106075 | FBP1 | c.1011C>T (n.1011C>T) c.851C>T (p.Pro284Leu) c.656C>T (p.Pro219Leu) c.605C>T (p.Pro202Leu) | |
| 9 | g.94603547G>C | CA114592 | FBP1 | c.1011C>G (n.1011C>G) c.851C>G (p.Pro284Arg) c.656C>G (p.Pro219Arg) c.605C>G (p.Pro202Arg) | ClinVar dbSNP |
| 9 | g.94603547G= | CA1865225181 | FBP1 | c.1011C= (n.1011C=) c.851C= (p.Pro284=) c.656C= (p.Pro219=) c.605C= (p.Pro202=) | |
| 9 | g.94603547G>T | CA374106076 | FBP1 | c.1011C>A (n.1011C>A) c.851C>A (p.Pro284His) c.656C>A (p.Pro219His) c.605C>A (p.Pro202His) | |
| 9 | g.94603547_94603548insA | CA5136089 | FBP1 | c.1010_1011insT (n.1010_1011insT) c.850_851insT (p.Pro284LeufsTer?) c.655_656insT (p.Pro219LeufsTer?) c.604_605insT (p.Pro202LeufsTer?) | dbSNP ExAC |
| 9 | g.94603548G>A | CA374106078 | FBP1 | c.1010C>T (n.1010C>T) c.850C>T (p.Pro284Ser) c.655C>T (p.Pro219Ser) c.604C>T (p.Pro202Ser) | |
| 9 | g.94603548G>C | CA374106081 | FBP1 | c.1010C>G (n.1010C>G) c.850C>G (p.Pro284Ala) c.655C>G (p.Pro219Ala) c.604C>G (p.Pro202Ala) | |
| 9 | g.94603548G>T | CA374106079 | FBP1 | c.1010C>A (n.1010C>A) c.850C>A (p.Pro284Thr) c.655C>A (p.Pro219Thr) c.604C>A (p.Pro202Thr) | |
| 9 | g.94603549G>A | CA196550965 | FBP1 | c.1009C>T (n.1009C>T) c.849C>T (p.Asn283=) c.654C>T (p.Asn218=) c.603C>T (p.Asn201=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.94603549G>C | CA374106083 | FBP1 | c.1009C>G (n.1009C>G) c.849C>G (p.Asn283Lys) c.654C>G (p.Asn218Lys) c.603C>G (p.Asn201Lys) | |
| 9 | g.94603549G= | CA1865225182 | FBP1 | c.1009C= (n.1009C=) c.849C= (p.Asn283=) c.654C= (p.Asn218=) c.603C= (p.Asn201=) | |
| 9 | g.94603549G>T | CA374106085 | FBP1 | c.1009C>A (n.1009C>A) c.849C>A (p.Asn283Lys) c.654C>A (p.Asn218Lys) c.603C>A (p.Asn201Lys) | |
| 9 | g.94603550T>A | CA374106087 | FBP1 | c.1008A>T (n.1008A>T) c.848A>T (p.Asn283Ile) c.653A>T (p.Asn218Ile) c.602A>T (p.Asn201Ile) | |
| 9 | g.94603550T>C | CA196550974 | FBP1 | c.1008A>G (n.1008A>G) c.848A>G (p.Asn283Ser) c.653A>G (p.Asn218Ser) c.602A>G (p.Asn201Ser) | dbSNP |
| 9 | g.94603550T>G | CA374106089 | FBP1 | c.1008A>C (n.1008A>C) c.848A>C (p.Asn283Thr) c.653A>C (p.Asn218Thr) c.602A>C (p.Asn201Thr) | |
| 9 | g.94603550T= | CA1865225183 | FBP1 | c.1008A= (n.1008A=) c.848A= (p.Asn283=) c.653A= (p.Asn218=) c.602A= (p.Asn201=) | |
| 9 | g.94603551T>A | CA374106091 | FBP1 | c.1007A>T (n.1007A>T) c.847A>T (p.Asn283Tyr) c.652A>T (p.Asn218Tyr) c.601A>T (p.Asn201Tyr) | |
| 9 | g.94603551T>C | CA374106093 | FBP1 | c.1007A>G (n.1007A>G) c.847A>G (p.Asn283Asp) c.652A>G (p.Asn218Asp) c.601A>G (p.Asn201Asp) | |
| 9 | g.94603551T>G | CA374106095 | FBP1 | c.1007A>C (n.1007A>C) c.847A>C (p.Asn283His) c.652A>C (p.Asn218His) c.601A>C (p.Asn201His) | |
| 9 | g.94603552G>A | CA466098917 | FBP1 | c.1006C>T (n.1006C>T) c.846C>T (p.Cys282=) c.651C>T (p.Cys217=) c.600C>T (p.Cys200=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.94603552G>C | CA374106097 | FBP1 | c.1006C>G (n.1006C>G) c.846C>G (p.Cys282Trp) c.651C>G (p.Cys217Trp) c.600C>G (p.Cys200Trp) | |
| 9 | g.94603552G= | CA1865225184 | FBP1 | c.1006C= (n.1006C=) c.846C= (p.Cys282=) c.651C= (p.Cys217=) c.600C= (p.Cys200=) | |
| 9 | g.94603552G>T | CA374106098 | FBP1 | c.1006C>A (n.1006C>A) c.846C>A (p.Cys282Ter) c.651C>A (p.Cys217Ter) c.600C>A (p.Cys200Ter) | ClinVar |
| 9 | g.94603553C>A | CA374106104 | FBP1 | c.1005G>T (n.1005G>T) c.845G>T (p.Cys282Phe) c.650G>T (p.Cys217Phe) c.599G>T (p.Cys200Phe) | |
| 9 | g.94603553C>G | CA374106103 | FBP1 | c.1005G>C (n.1005G>C) c.845G>C (p.Cys282Ser) c.650G>C (p.Cys217Ser) c.599G>C (p.Cys200Ser) | |
| 9 | g.94603553C>T | CA374106101 | FBP1 | c.1005G>A (n.1005G>A) c.845G>A (p.Cys282Tyr) c.650G>A (p.Cys217Tyr) c.599G>A (p.Cys200Tyr) | |
| 9 | g.94603554A>C | CA374106107 | FBP1 | c.1004T>G (n.1004T>G) c.844T>G (p.Cys282Gly) c.649T>G (p.Cys217Gly) c.598T>G (p.Cys200Gly) | |
| 9 | g.94603554A>G | CA374106110 | FBP1 | c.1004T>C (n.1004T>C) c.844T>C (p.Cys282Arg) c.649T>C (p.Cys217Arg) c.598T>C (p.Cys200Arg) | gnomAD v4 |
| 9 | g.94603554A>T | CA374106109 | FBP1 | c.1004T>A (n.1004T>A) c.844T>A (p.Cys282Ser) c.649T>A (p.Cys217Ser) c.598T>A (p.Cys200Ser) | |
| 9 | g.94603555T>A | CA374106113 | FBP1 | c.1003A>T (n.1003A>T) c.843A>T (p.Glu281Asp) c.648A>T (p.Glu216Asp) c.597A>T (p.Glu199Asp) | |
| 9 | g.94603555T>C | CA466098933 | FBP1 | c.1003A>G (n.1003A>G) c.843A>G (p.Glu281=) c.648A>G (p.Glu216=) c.597A>G (p.Glu199=) | |
| 9 | g.94603555T>G | CA374106114 | FBP1 | c.1003A>C (n.1003A>C) c.843A>C (p.Glu281Asp) c.648A>C (p.Glu216Asp) c.597A>C (p.Glu199Asp) | |
| 9 | g.94603556T>A | CA374106117 | FBP1 | c.1002A>T (n.1002A>T) c.842A>T (p.Glu281Val) c.647A>T (p.Glu216Val) c.596A>T (p.Glu199Val) | |
| 9 | g.94603556T>C | CA374106120 | FBP1 | c.1002A>G (n.1002A>G) c.842A>G (p.Glu281Gly) c.647A>G (p.Glu216Gly) c.596A>G (p.Glu199Gly) | |
| 9 | g.94603556T>G | CA374106118 | FBP1 | c.1002A>C (n.1002A>C) c.842A>C (p.Glu281Ala) c.647A>C (p.Glu216Ala) c.596A>C (p.Glu199Ala) | |
| 9 | g.94603557C>A | CA374106122 | FBP1 | c.1001G>T (n.1001G>T) c.841G>T (p.Glu281Ter) c.646G>T (p.Glu216Ter) c.595G>T (p.Glu199Ter) | ClinVar dbSNP |
| 9 | g.94603557C= | CA1865225185 | FBP1 | c.1001G= (n.1001G=) c.841G= (p.Glu281=) c.646G= (p.Glu216=) c.595G= (p.Glu199=) | |
| 9 | g.94603557C>G | CA374106124 | FBP1 | c.1001G>C (n.1001G>C) c.841G>C (p.Glu281Gln) c.646G>C (p.Glu216Gln) c.595G>C (p.Glu199Gln) | gnomAD v4 |
| 9 | g.94603557C>T | CA5136090 | FBP1 | c.1001G>A (n.1001G>A) c.841G>A (p.Glu281Lys) c.646G>A (p.Glu216Lys) c.595G>A (p.Glu199Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.94603558G>A | CA5136091 | FBP1 | c.1000C>T (n.1000C>T) c.840C>T (p.Tyr280=) c.645C>T (p.Tyr215=) c.594C>T (p.Tyr198=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.94603558G>C | CA374106127 | FBP1 | c.1000C>G (n.1000C>G) c.840C>G (p.Tyr280Ter) c.645C>G (p.Tyr215Ter) c.594C>G (p.Tyr198Ter) | |
| 9 | g.94603558G= | CA1865225186 | FBP1 | c.1000C= (n.1000C=) c.840C= (p.Tyr280=) c.645C= (p.Tyr215=) c.594C= (p.Tyr198=) | |
| 9 | g.94603558G>T | CA374106129 | FBP1 | c.1000C>A (n.1000C>A) c.840C>A (p.Tyr280Ter) c.645C>A (p.Tyr215Ter) c.594C>A (p.Tyr198Ter) | |
| 9 | g.94603559T>A | CA374106131 | FBP1 | c.999A>T (n.999A>T) c.839A>T (p.Tyr280Phe) c.644A>T (p.Tyr215Phe) c.593A>T (p.Tyr198Phe) | |
| 9 | g.94603559T>C | CA374106132 | FBP1 | c.999A>G (n.999A>G) c.839A>G (p.Tyr280Cys) c.644A>G (p.Tyr215Cys) c.593A>G (p.Tyr198Cys) | |
| 9 | g.94603559T>G | CA374106133 | FBP1 | c.999A>C (n.999A>C) c.839A>C (p.Tyr280Ser) c.644A>C (p.Tyr215Ser) c.593A>C (p.Tyr198Ser) | |
| 9 | g.94603560del | CA2695210720 | FBP1 | c.998del (n.998del) c.838del (p.Tyr280ThrfsTer25) c.643del (p.Tyr215ThrfsTer25) c.592del (p.Tyr198ThrfsTer25) | |
| 9 | g.94603560A>C | CA374106135 | FBP1 | c.998T>G (n.998T>G) c.838T>G (p.Tyr280Asp) c.643T>G (p.Tyr215Asp) c.592T>G (p.Tyr198Asp) | |
| 9 | g.94603560A>G | CA374106136 | FBP1 | c.998T>C (n.998T>C) c.838T>C (p.Tyr280His) c.643T>C (p.Tyr215His) c.592T>C (p.Tyr198His) |