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 |
|---|---|---|---|---|---|
| 18 | g.31598039_31598579delinsGGGCTTGGAGACAGGAGACTTGCCTTCCTACTATGGTTCCATCAGAATGTAGACTGGGACAATACAATAATTCAAGTCTGGTTTGCTCATCTGTAAATTGGGAAGAATGTTTCCAGCTCCAGAATGCTAAATCTCTAAGTCTGTGGTTGGCAGCCACTATTGCAGCAGCTCTTCAATGACTCAATGCAGTTTTGCATTCTCCCTACCTTTTTTTTCTAAAACCAATAAAATAGATACAGCCTTTAGGCTTTCTGGGATTTCCCTTAGTCAAGCTAGGGTCATCCTGACTTTCGGCGTGAATTTGCAAAACAAGACCTGACTCTGTACTCCTGCTCTAAGGACTGTGCATGGTTCCAAAGGCTTAGCTTGCCAGCATATTTGAGCTTTTTCCTTCTGTTCAAACTGTTCCAAAATATAAAAGAATAAAATTAATTAAGTTGGCACTGGACTTCCGGTGGTCAGTCATGTGTGTCATCTGTCACGTTTTTCGGGCTCTGGTGGAAATGGATCTGTCTGTCTTCTCTCATAGGTGGTATTCACA | CA2293889082 | TTR | c.337-529_348delinsGGGCTTGGAGACAGGAGACTTGCCTTCCTACTATGGTTCCATCAGAATGTAGACTGGGACAATACAATAATTCAAGTCTGGTTTGCTCATCTGTAAATTGGGAAGAATGTTTCCAGCTCCAGAATGCTAAATCTCTAAGTCTGTGGTTGGCAGCCACTATTGCAGCAGCTCTTCAATGACTCAATGCAGTTTTGCATTCTCCCTACCTTTTTTTTCTAAAACCAATAAAATAGATACAGCCTTTAGGCTTTCTGGGATTTCCCTTAGTCAAGCTAGGGTCATCCTGACTTTCGGCGTGAATTTGCAAAACAAGACCTGACTCTGTACTCCTGCTCTAAGGACTGTGCATGGTTCCAAAGGCTTAGCTTGCCAGCATATTTGAGCTTTTTCCTTCTGTTCAAACTGTTCCAAAATATAAAAGAATAAAATTAATTAAGTTGGCACTGGACTTCCGGTGGTCAGTCATGTGTGTCATCTGTCACGTTTTTCGGGCTCTGGTGGAAATGGATCTGTCTGTCTTCTCTCATAGGTGGTATTCACA c.241-529_252delinsGGGCTTGGAGACAGGAGACTTGCCTTCCTACTATGGTTCCATCAGAATGTAGACTGGGACAATACAATAATTCAAGTCTGGTTTGCTCATCTGTAAATTGGGAAGAATGTTTCCAGCTCCAGAATGCTAAATCTCTAAGTCTGTGGTTGGCAGCCACTATTGCAGCAGCTCTTCAATGACTCAATGCAGTTTTGCATTCTCCCTACCTTTTTTTTCTAAAACCAATAAAATAGATACAGCCTTTAGGCTTTCTGGGATTTCCCTTAGTCAAGCTAGGGTCATCCTGACTTTCGGCGTGAATTTGCAAAACAAGACCTGACTCTGTACTCCTGCTCTAAGGACTGTGCATGGTTCCAAAGGCTTAGCTTGCCAGCATATTTGAGCTTTTTCCTTCTGTTCAAACTGTTCCAAAATATAAAAGAATAAAATTAATTAAGTTGGCACTGGACTTCCGGTGGTCAGTCATGTGTGTCATCTGTCACGTTTTTCGGGCTCTGGTGGAAATGGATCTGTCTGTCTTCTCTCATAGGTGGTATTCACA c.431-34_462delinsGGGCTTGGAGACAGGAGACTTGCCTTCCTACTATGGTTCCATCAGAATGTAGACTGGGACAATACAATAATTCAAGTCTGGTTTGCTCATCTGTAAATTGGGAAGAATGTTTCCAGCTCCAGAATGCTAAATCTCTAAGTCTGTGGTTGGCAGCCACTATTGCAGCAGCTCTTCAATGACTCAATGCAGTTTTGCATTCTCCCTACCTTTTTTTTCTAAAACCAATAAAATAGATACAGCCTTTAGGCTTTCTGGGATTTCCCTTAGTCAAGCTAGGGTCATCCTGACTTTCGGCGTGAATTTGCAAAACAAGACCTGACTCTGTACTCCTGCTCTAAGGACTGTGCATGGTTCCAAAGGCTTAGCTTGCCAGCATATTTGAGCTTTTTCCTTCTGTTCAAACTGTTCCAAAATATAAAAGAATAAAATTAATTAAGTTGGCACTGGACTTCCGGTGGTCAGTCATGTGTGTCATCTGTCACGTTTTTCGGGCTCTGGTGGAAATGGATCTGTCTGTCTTCTCTCATAGGTGGTATTCACA | |
| 18 | g.31598041_31598580del | CA916081932 | TTR | c.337-527_349del c.241-527_253del c.431-32_463del | ClinVar dbSNP |
| 18 | g.31598572T>A | CA402158125 | TTR | c.341T>A (p.Val114Glu) c.245T>A (p.Val82Glu) c.455T>A (p.Val152Glu) | |
| 18 | g.31598572T>C | CA402158127 | TTR | c.341T>C (p.Val114Ala) c.245T>C (p.Val82Ala) c.455T>C (p.Val152Ala) | |
| 18 | g.31598572T>G | CA402158129 | TTR | c.341T>G (p.Val114Gly) c.245T>G (p.Val82Gly) c.455T>G (p.Val152Gly) | |
| 18 | g.31598573A>C | CA503610825 | TTR | c.342A>C (p.Val114=) c.246A>C (p.Val82=) c.456A>C (p.Val152=) | |
| 18 | g.31598573A>G | CA503610826 | TTR | c.342A>G (p.Val114=) c.246A>G (p.Val82=) c.456A>G (p.Val152=) | |
| 18 | g.31598573A>T | CA503610827 | TTR | c.342A>T (p.Val114=) c.246A>T (p.Val82=) c.456A>T (p.Val152=) | |
| 18 | g.31598574T>A | CA402158130 | TTR | c.343T>A (p.Phe115Ile) c.247T>A (p.Phe83Ile) c.457T>A (p.Phe153Ile) | |
| 18 | g.31598574T>C | CA402158131 | TTR | c.343T>C (p.Phe115Leu) c.247T>C (p.Phe83Leu) c.457T>C (p.Phe153Leu) | |
| 18 | g.31598574T>G | CA402158132 | TTR | c.343T>G (p.Phe115Val) c.247T>G (p.Phe83Val) c.457T>G (p.Phe153Val) | |
| 18 | g.31598575T>A | CA402158135 | TTR | c.344T>A (p.Phe115Tyr) c.248T>A (p.Phe83Tyr) c.458T>A (p.Phe153Tyr) | |
| 18 | g.31598575T>C | CA402158133 | TTR | c.344T>C (p.Phe115Ser) c.248T>C (p.Phe83Ser) c.458T>C (p.Phe153Ser) | |
| 18 | g.31598575T>G | CA402158134 | TTR | c.344T>G (p.Phe115Cys) c.248T>G (p.Phe83Cys) c.458T>G (p.Phe153Cys) | |
| 18 | g.31598576C>A | CA402158136 | TTR | c.345C>A (p.Phe115Leu) c.249C>A (p.Phe83Leu) c.459C>A (p.Phe153Leu) | |
| 18 | g.31598576C>G | CA402158137 | TTR | c.345C>G (p.Phe115Leu) c.249C>G (p.Phe83Leu) c.459C>G (p.Phe153Leu) | |
| 18 | g.31598576C>T | CA503610830 | TTR | c.345C>T (p.Phe115=) c.249C>T (p.Phe83=) c.459C>T (p.Phe153=) | |
| 18 | g.31598577A>C | CA402158138 | TTR | c.346A>C (p.Thr116Pro) c.250A>C (p.Thr84Pro) c.460A>C (p.Thr154Pro) | |
| 18 | g.31598577A>G | CA402158139 | TTR | c.346A>G (p.Thr116Ala) c.250A>G (p.Thr84Ala) c.460A>G (p.Thr154Ala) | |
| 18 | g.31598577A>T | CA402158140 | TTR | c.346A>T (p.Thr116Ser) c.250A>T (p.Thr84Ser) c.460A>T (p.Thr154Ser) | |
| 18 | g.31598578C>A | CA402158142 | TTR | c.347C>A (p.Thr116Lys) c.251C>A (p.Thr84Lys) c.461C>A (p.Thr154Lys) | |
| 18 | g.31598578C>G | CA402158141 | TTR | c.347C>G (p.Thr116Arg) c.251C>G (p.Thr84Arg) c.461C>G (p.Thr154Arg) | ClinVar gnomAD v4 |
| 18 | g.31598578C>T | CA297741802 | TTR | c.347C>T (p.Thr116Ile) c.251C>T (p.Thr84Ile) c.461C>T (p.Thr154Ile) | |
| 18 | g.31598579A= | CA2293889326 | TTR | c.348A= (p.Thr116=) c.252A= (p.Thr84=) c.462A= (p.Thr154=) | |
| 18 | g.31598579A>C | CA503610836 | TTR | c.348A>C (p.Thr116=) c.252A>C (p.Thr84=) c.462A>C (p.Thr154=) | |
| 18 | g.31598579A>G | CA8928497 | TTR | c.348A>G (p.Thr116=) c.252A>G (p.Thr84=) c.462A>G (p.Thr154=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.31598579A>T | CA503610834 | TTR | c.348A>T (p.Thr116=) c.252A>T (p.Thr84=) c.462A>T (p.Thr154=) | |
| 18 | g.31598580G>A | CA402158144 | TTR | c.349G>A (p.Ala117Thr) c.253G>A (p.Ala85Thr) c.463G>A (p.Ala155Thr) | |
| 18 | g.31598580G>C | CA402158145 | TTR | c.349G>C (p.Ala117Pro) c.253G>C (p.Ala85Pro) c.463G>C (p.Ala155Pro) | |
| 18 | g.31598580G= | CA2293889327 | TTR | c.349G= (p.Ala117=) c.253G= (p.Ala85=) c.463G= (p.Ala155=) | |
| 18 | g.31598580G>T | CA256859 | TTR | c.349G>T (p.Ala117Ser) c.253G>T (p.Ala85Ser) c.463G>T (p.Ala155Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.31598581C>A | CA402158146 | TTR | c.350C>A (p.Ala117Asp) c.254C>A (p.Ala85Asp) c.464C>A (p.Ala155Asp) | ClinVar gnomAD v4 |
| 18 | g.31598581C= | CA2293889328 | TTR | c.350C= (p.Ala117=) c.254C= (p.Ala85=) c.464C= (p.Ala155=) | |
| 18 | g.31598581C>G | CA256841 | TTR | c.350C>G (p.Ala117Gly) c.254C>G (p.Ala85Gly) c.464C>G (p.Ala155Gly) | ClinVar dbSNP |
| 18 | g.31598581C>T | CA402158147 | TTR | c.350C>T (p.Ala117Val) c.254C>T (p.Ala85Val) c.464C>T (p.Ala155Val) | |
| 18 | g.31598582C>A | CA503610842 | TTR | c.351C>A (p.Ala117=) c.255C>A (p.Ala85=) c.465C>A (p.Ala155=) | gnomAD v4 |
| 18 | g.31598582C= | CA2293889329 | TTR | c.351C= (p.Ala117=) c.255C= (p.Ala85=) c.465C= (p.Ala155=) | |
| 18 | g.31598582C>G | CA503610841 | TTR | c.351C>G (p.Ala117=) c.255C>G (p.Ala85=) c.465C>G (p.Ala155=) | |
| 18 | g.31598582C>T | CA503610840 | TTR | c.351C>T (p.Ala117=) c.255C>T (p.Ala85=) c.465C>T (p.Ala155=) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.31598583A>C | CA402158148 | TTR | c.352A>C (p.Asn118His) c.256A>C (p.Asn86His) c.466A>C (p.Asn156His) | |
| 18 | g.31598583A>G | CA402158149 | TTR | c.352A>G (p.Asn118Asp) c.256A>G (p.Asn86Asp) c.466A>G (p.Asn156Asp) | |
| 18 | g.31598583A>T | CA402158150 | TTR | c.352A>T (p.Asn118Tyr) c.256A>T (p.Asn86Tyr) c.466A>T (p.Asn156Tyr) | |
| 18 | g.31598584A>C | CA402158151 | TTR | c.353A>C (p.Asn118Thr) c.257A>C (p.Asn86Thr) c.467A>C (p.Asn156Thr) | |
| 18 | g.31598584A>G | CA402158152 | TTR | c.353A>G (p.Asn118Ser) c.257A>G (p.Asn86Ser) c.467A>G (p.Asn156Ser) | |
| 18 | g.31598584A>T | CA402158153 | TTR | c.353A>T (p.Asn118Ile) c.257A>T (p.Asn86Ile) c.467A>T (p.Asn156Ile) | |
| 18 | g.31598585C>A | CA402158154 | TTR | c.354C>A (p.Asn118Lys) c.258C>A (p.Asn86Lys) c.468C>A (p.Asn156Lys) | |
| 18 | g.31598585C= | CA2293889330 | TTR | c.354C= (p.Asn118=) c.258C= (p.Asn86=) c.468C= (p.Asn156=) | |
| 18 | g.31598585C>G | CA402158155 | TTR | c.354C>G (p.Asn118Lys) c.258C>G (p.Asn86Lys) c.468C>G (p.Asn156Lys) | |
| 18 | g.31598585C>T | CA179464 | TTR | c.354C>T (p.Asn118=) c.258C>T (p.Asn86=) c.468C>T (p.Asn156=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.31598586G>A | CA297513 | TTR | c.355G>A (p.Asp119Asn) c.259G>A (p.Asp87Asn) c.469G>A (p.Asp157Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |