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 |
|---|---|---|---|---|---|
| 4 | g.139874173G>A | CA106766243 | MAML3 | c.111-143506C>T c.2079+15184C>T (n.2079+15184C>T) c.2067+15184C>T (n.2067+15184C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.139874173G>C | CA2581462301 | MAML3 | c.111-143506C>G c.2079+15184C>G (n.2079+15184C>G) c.2067+15184C>G (n.2067+15184C>G) | |
| 4 | g.139874173G= | CA1498567577 | MAML3 | c.111-143506C= c.2079+15184C= (n.2079+15184C=) c.2067+15184C= (n.2067+15184C=) | |
| 4 | g.139874173G>T | CA2581462302 | MAML3 | c.111-143506C>A c.2079+15184C>A (n.2079+15184C>A) c.2067+15184C>A (n.2067+15184C>A) | |
| 4 | g.139874175G>T | CA2605111295 | MAML3 | c.111-143508C>A c.2079+15182C>A (n.2079+15182C>A) c.2067+15182C>A (n.2067+15182C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.139874176T>A | CA106766246 | MAML3 | c.111-143509A>T c.2079+15181A>T (n.2079+15181A>T) c.2067+15181A>T (n.2067+15181A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.139874176T= | CA1498567578 | MAML3 | c.111-143509A= c.2079+15181A= (n.2079+15181A=) c.2067+15181A= (n.2067+15181A=) | |
| 4 | g.139874178C= | CA1498567579 | MAML3 | c.111-143511G= c.2079+15179G= (n.2079+15179G=) c.2067+15179G= (n.2067+15179G=) | |
| 4 | g.139874178C>G | CA1068725748 | MAML3 | c.111-143511G>C c.2079+15179G>C (n.2079+15179G>C) c.2067+15179G>C (n.2067+15179G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.139874179T>C | CA1498567581 | MAML3 | c.111-143512A>G c.2079+15178A>G (n.2079+15178A>G) c.2067+15178A>G (n.2067+15178A>G) | dbSNP |
| 4 | g.139874179T= | CA1498567580 | MAML3 | c.111-143512A= c.2079+15178A= (n.2079+15178A=) c.2067+15178A= (n.2067+15178A=) | |
| 4 | g.139874182A>G | CA2763763280 | MAML3 | c.111-143515T>C c.2079+15175T>C (n.2079+15175T>C) c.2067+15175T>C (n.2067+15175T>C) | |
| 4 | g.139874183A= | CA1498567582 | MAML3 | c.111-143516T= c.2079+15174T= (n.2079+15174T=) c.2067+15174T= (n.2067+15174T=) | |
| 4 | g.139874183A>G | CA1498567584 | MAML3 | c.111-143516T>C c.2079+15174T>C (n.2079+15174T>C) c.2067+15174T>C (n.2067+15174T>C) | dbSNP |
| 4 | g.139874183A>T | CA1498567586 | MAML3 | c.111-143516T>A c.2079+15174T>A (n.2079+15174T>A) c.2067+15174T>A (n.2067+15174T>A) | dbSNP |
| 4 | g.139874183_139874184insTTAT | CA1068725749 | MAML3 | c.111-143517_111-143516insATAA c.2079+15173_2079+15174insATAA (n.2079+15173_2079+15174insATAA) c.2067+15173_2067+15174insATAA (n.2067+15173_2067+15174insATAA) | gnomAD v3 gnomAD v4 |
| 4 | g.139874183_139874184insTTATGCAGGAGGAACAATCTTGTCAGAGCCAAGATTGATTTTTTTTAAAAAAATCACCAGTGAAACTT | CA1068725751 | MAML3 | c.111-143517_111-143516insAAGTTTCACTGGTGATTTTTTTAAAAAAAATCAATCTTGGCTCTGACAAGATTGTTCCTCCTGCATAA c.2079+15173_2079+15174insAAGTTTCACTGGTGATTTTTTTAAAAAAAATCAATCTTGGCTCTGACAAGATTGTTCCTCCTGCATAA (n.2079+15173_2079+15174insAAGTTTCACTGGTGATTTTTTTAAAAAAAATCAATCTTGGCTCTGACAAGATTGTTCCTCCTGCATAA) c.2067+15173_2067+15174insAAGTTTCACTGGTGATTTTTTTAAAAAAAATCAATCTTGGCTCTGACAAGATTGTTCCTCCTGCATAA (n.2067+15173_2067+15174insAAGTTTCACTGGTGATTTTTTTAAAAAAAATCAATCTTGGCTCTGACAAGATTGTTCCTCCTGCATAA) | gnomAD v3 gnomAD v4 |
| 4 | g.139874183_139874184insTTATGCAGGAGGAACAATCTTGTCAGAGCCAAGATTGATTTTTTTTAAAAAAATCACCAGTGAAACTTGCTAACAGTT | CA1068725753 | MAML3 | c.111-143517_111-143516insAACTGTTAGCAAGTTTCACTGGTGATTTTTTTAAAAAAAATCAATCTTGGCTCTGACAAGATTGTTCCTCCTGCATAA c.2079+15173_2079+15174insAACTGTTAGCAAGTTTCACTGGTGATTTTTTTAAAAAAAATCAATCTTGGCTCTGACAAGATTGTTCCTCCTGCATAA (n.2079+15173_2079+15174insAACTGTTAGCAAGTTTCACTGGTGATTTTTTTAAAAAAAATCAATCTTGGCTCTGACAAGATTGTTCCTCCTGCATAA) c.2067+15173_2067+15174insAACTGTTAGCAAGTTTCACTGGTGATTTTTTTAAAAAAAATCAATCTTGGCTCTGACAAGATTGTTCCTCCTGCATAA (n.2067+15173_2067+15174insAACTGTTAGCAAGTTTCACTGGTGATTTTTTTAAAAAAAATCAATCTTGGCTCTGACAAGATTGTTCCTCCTGCATAA) | gnomAD v3 gnomAD v4 |
| 4 | g.139874184_139874185insCAGGAGGAACAATCTTGTCAGA | CA1068725756 | MAML3 | c.111-143518_111-143517insTCTGACAAGATTGTTCCTCCTG c.2079+15172_2079+15173insTCTGACAAGATTGTTCCTCCTG (n.2079+15172_2079+15173insTCTGACAAGATTGTTCCTCCTG) c.2067+15172_2067+15173insTCTGACAAGATTGTTCCTCCTG (n.2067+15172_2067+15173insTCTGACAAGATTGTTCCTCCTG) | gnomAD v3 gnomAD v4 |
| 4 | g.139874187_139874188insAAGATTGATTTTTTTTAAAAAAA | CA1068725758 | MAML3 | c.111-143521_111-143520insTTTTTTTAAAAAAAATCAATCTT c.2079+15169_2079+15170insTTTTTTTAAAAAAAATCAATCTT (n.2079+15169_2079+15170insTTTTTTTAAAAAAAATCAATCTT) c.2067+15169_2067+15170insTTTTTTTAAAAAAAATCAATCTT (n.2067+15169_2067+15170insTTTTTTTAAAAAAAATCAATCTT) | gnomAD v3 gnomAD v4 |
| 4 | g.139874188T>A | CA1068725760 | MAML3 | c.111-143521A>T c.2079+15169A>T (n.2079+15169A>T) c.2067+15169A>T (n.2067+15169A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.139874188T= | CA1498567587 | MAML3 | c.111-143521A= c.2079+15169A= (n.2079+15169A=) c.2067+15169A= (n.2067+15169A=) | |
| 4 | g.139874189C= | CA1498567588 | MAML3 | c.111-143522G= c.2079+15168G= (n.2079+15168G=) c.2067+15168G= (n.2067+15168G=) | |
| 4 | g.139874189C>G | CA1068725761 | MAML3 | c.111-143522G>C c.2079+15168G>C (n.2079+15168G>C) c.2067+15168G>C (n.2067+15168G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.139874190_139874191insCCAGTGAAACTTGCTAACAGTTGGCTTTT | CA1068725762 | MAML3 | c.111-143524_111-143523insAAAAGCCAACTGTTAGCAAGTTTCACTGG c.2079+15166_2079+15167insAAAAGCCAACTGTTAGCAAGTTTCACTGG (n.2079+15166_2079+15167insAAAAGCCAACTGTTAGCAAGTTTCACTGG) c.2067+15166_2067+15167insAAAAGCCAACTGTTAGCAAGTTTCACTGG (n.2067+15166_2067+15167insAAAAGCCAACTGTTAGCAAGTTTCACTGG) | gnomAD v3 gnomAD v4 |
| 4 | g.139874191_139874193delinsAAG | CA1498567590 | MAML3 | c.111-143526_111-143524delinsCTT c.2079+15164_2079+15166delinsCTT (n.2079+15164_2079+15166delinsCTT) c.2067+15164_2067+15166delinsCTT (n.2067+15164_2067+15166delinsCTT) | |
| 4 | g.139874192A= | CA1498567592 | MAML3 | c.111-143525T= c.2079+15165T= (n.2079+15165T=) c.2067+15165T= (n.2067+15165T=) | |
| 4 | g.139874192A>C | CA788038046 | MAML3 | c.111-143525T>G c.2079+15165T>G (n.2079+15165T>G) c.2067+15165T>G (n.2067+15165T>G) | dbSNP |
| 4 | g.139874192A>T | CA1068725766 | MAML3 | c.111-143525T>A c.2079+15165T>A (n.2079+15165T>A) c.2067+15165T>A (n.2067+15165T>A) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.139874194_139874195del | CA1068725767 | MAML3 | c.111-143526_111-143525del c.2079+15164_2079+15165del (n.2079+15164_2079+15165del) c.2067+15164_2067+15165del (n.2067+15164_2067+15165del) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.139874193G>A | CA106766249 | MAML3 | c.111-143526C>T c.2079+15164C>T (n.2079+15164C>T) c.2067+15164C>T (n.2067+15164C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.139874193G= | CA1498567595 | MAML3 | c.111-143526C= c.2079+15164C= (n.2079+15164C=) c.2067+15164C= (n.2067+15164C=) | |
| 4 | g.139874193G>T | CA2763763281 | MAML3 | c.111-143526C>A c.2079+15164C>A (n.2079+15164C>A) c.2067+15164C>A (n.2067+15164C>A) | |
| 4 | g.139874196T>C | CA1068725781 | MAML3 | c.111-143529A>G c.2079+15161A>G (n.2079+15161A>G) c.2067+15161A>G (n.2067+15161A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.139874196T= | CA1498567597 | MAML3 | c.111-143529A= c.2079+15161A= (n.2079+15161A=) c.2067+15161A= (n.2067+15161A=) | |
| 4 | g.139874197C= | CA1498567599 | MAML3 | c.111-143530G= c.2079+15160G= (n.2079+15160G=) c.2067+15160G= (n.2067+15160G=) | |
| 4 | g.139874197C>G | CA788038052 | MAML3 | c.111-143530G>C c.2079+15160G>C (n.2079+15160G>C) c.2067+15160G>C (n.2067+15160G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.139874203G>A | CA1068725784 | MAML3 | c.111-143536C>T c.2079+15154C>T (n.2079+15154C>T) c.2067+15154C>T (n.2067+15154C>T) | dbSNP |
| 4 | g.139874203G= | CA1498567600 | MAML3 | c.111-143536C= c.2079+15154C= (n.2079+15154C=) c.2067+15154C= (n.2067+15154C=) | |
| 4 | g.139874205C>A | CA1498567604 | MAML3 | c.111-143538G>T c.2079+15152G>T (n.2079+15152G>T) c.2067+15152G>T (n.2067+15152G>T) | dbSNP |
| 4 | g.139874205C= | CA1498567602 | MAML3 | c.111-143538G= c.2079+15152G= (n.2079+15152G=) c.2067+15152G= (n.2067+15152G=) | |
| 4 | g.139874207T>G | CA1498567606 | MAML3 | c.111-143540A>C c.2079+15150A>C (n.2079+15150A>C) c.2067+15150A>C (n.2067+15150A>C) | dbSNP |
| 4 | g.139874207T= | CA1498567605 | MAML3 | c.111-143540A= c.2079+15150A= (n.2079+15150A=) c.2067+15150A= (n.2067+15150A=) | |
| 4 | g.139874211G>C | CA555045453 | MAML3 | c.111-143544C>G c.2079+15146C>G (n.2079+15146C>G) c.2067+15146C>G (n.2067+15146C>G) | dbSNP gnomAD v2 |
| 4 | g.139874211G= | CA1498567608 | MAML3 | c.111-143544C= c.2079+15146C= (n.2079+15146C=) c.2067+15146C= (n.2067+15146C=) | |
| 4 | g.139874212A= | CA1498567610 | MAML3 | c.111-143545T= c.2079+15145T= (n.2079+15145T=) c.2067+15145T= (n.2067+15145T=) | |
| 4 | g.139874212A>G | CA1498567611 | MAML3 | c.111-143545T>C c.2079+15145T>C (n.2079+15145T>C) c.2067+15145T>C (n.2067+15145T>C) | dbSNP |
| 4 | g.139874214T>C | CA2763763282 | MAML3 | c.111-143547A>G c.2079+15143A>G (n.2079+15143A>G) c.2067+15143A>G (n.2067+15143A>G) | |
| 4 | g.139874217G>C | CA106766250 | MAML3 | c.111-143550C>G c.2079+15140C>G (n.2079+15140C>G) c.2067+15140C>G (n.2067+15140C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.139874217G= | CA1498567614 | MAML3 | c.111-143550C= c.2079+15140C= (n.2079+15140C=) c.2067+15140C= (n.2067+15140C=) |