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.5218346_5226066del | CA916083167 | ClinVar | ||
| 11 | g.5224303_5227790del | CA2499220996 | ClinVar | ||
| 11 | g.5225158_5227199delinsCTTAT | CA916083168 | ClinVar | ||
| 11 | g.5225255_5225875delinsCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGGCTGTTGCCAATGTGCATTAGCTGTTTGCAGCCTCACCTTCTTTCATGGAGTTTAAGATATAGTGTATTTTCCCAAGGTTTGAACTAGCTCTTCATTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCA | CA1949563432 | |||
| 11 | g.5225256_5225874delinsAAGTAG | CA658820845 | |||
| 11 | g.5225256_5225874delinsTCTACTT | CA923726280 | |||
| 11 | g.5225256_5225875delinsTCTACCT | CA915940749 | |||
| 11 | g.5225256_5225875delinsTCTACTT | CA915940716 | ClinVar dbSNP | ||
| 11 | g.5225388_5226007delinsTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCAGTTACAATTTATATGCAGAAATATTTATATGCAGAGATATTGCTATTGCCTTAACCCAGAAATTATCACTGTTATTCTTTAGAATGGTGCAAAGAGGCATGATACATTGTATCATTATTGCCCTGAAAGAAA | CA1949563581 | |||
| 11 | g.5225389_5226007del | CA916083169 | ClinVar dbSNP | ||
| 11 | g.5225465_5225726delinsTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAG | CA1949563653 | HBB | c.316_*133delinsCTCCTGGGCAACGTGCTGGTCTGTGTGCTGGCCCATCACTTTGGCAAAGAATTCACCCCACCAGTGCAGGCTGCCTATCAGAAAGTGGTGGCTGGTGTGGCTAATGCCCTGGCCCACAAGTATCACTAAGCTCGCTTTCTTGCTGTCCAATTTCTATTAAAGGTTCCTTTGTTCCCTAAGTCCAACTACTAAACTGGGGGATATTATGAAGGGCCTTGAGCATCTGGATTCTGCCTAATAAAAAACATTTATTTTCATTGCA (n.[c.316_*133delinsCTCCTGGGCAACGTGCTGGTCTGTGTGCTGGCCCATCACTTTGGCAAAGAATTCACCCCACCAGTGCAGGCTGCCTATCAGAAAGTGGTGGCTGGTGTGGCTAATGCCCTGGCCCACAAGTATCACTAAGCTCGCTTTCTTGCTGTCCAATTTCTATTAAAGGTTCCTTTGTTCCCTAAGTCCAACTACTAAACTGGGGGATATTATGAAGGGCCTTGAGCATCTGGATTCTGCCTAATAAAAAACATTTATTTTCATTGCA;Leu106=]) | |
| 11 | g.5225465_5225875delinsTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCA | CA1949563650 | HBB | c.316-149_*133delinsTGATGTAAGAGGTTTCATATTGCTAATAGCAGCTACAATCCAGCTACCATTCTGCTTTTATTTTATGGTTGGGATAAGGCTGGATTATTCTGAGTCCAAGCTAGGCCCTTTTGCTAATCATGTTCATACCTCTTATCTTCCTCCCACAGCTCCTGGGCAACGTGCTGGTCTGTGTGCTGGCCCATCACTTTGGCAAAGAATTCACCCCACCAGTGCAGGCTGCCTATCAGAAAGTGGTGGCTGGTGTGGCTAATGCCCTGGCCCACAAGTATCACTAAGCTCGCTTTCTTGCTGTCCAATTTCTATTAAAGGTTCCTTTGTTCCCTAAGTCCAACTACTAAACTGGGGGATATTATGAAGGGCCTTGAGCATCTGGATTCTGCCTAATAAAAAACATTTATTTTCATTGCA | |
| 11 | g.5225466_5225726del | CA916083170 | HBB | c.316_*132del (n.[c.316_*132del;Leu106=]) | ClinVar dbSNP |
| 11 | g.5225467_5225876del | CA915947982 | HBB | c.316-149_*132del | ClinVar dbSNP |
| 11 | g.5225597_5225726delinsCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAG | CA1949564026 | HBB | c.316_*1delinsCTCCTGGGCAACGTGCTGGTCTGTGTGCTGGCCCATCACTTTGGCAAAGAATTCACCCCACCAGTGCAGGCTGCCTATCAGAAAGTGGTGGCTGGTGTGGCTAATGCCCTGGCCCACAAGTATCACTAAG (n.[c.316_*1delinsCTCCTGGGCAACGTGCTGGTCTGTGTGCTGGCCCATCACTTTGGCAAAGAATTCACCCCACCAGTGCAGGCTGCCTATCAGAAAGTGGTGGCTGGTGTGGCTAATGCCCTGGCCCACAAGTATCACTAAG;Leu106=]) c.*132_*261delinsCTCCTGGGCAACGTGCTGGTCTGTGTGCTGGCCCATCACTTTGGCAAAGAATTCACCCCACCAGTGCAGGCTGCCTATCAGAAAGTGGTGGCTGGTGTGGCTAATGCCCTGGCCCACAAGTATCACTAAG (n.*132_*261delinsCTCCTGGGCAACGTGCTGGTCTGTGTGCTGGCCCATCACTTTGGCAAAGAATTCACCCCACCAGTGCAGGCTGCCTATCAGAAAGTGGTGGCTGGTGTGGCTAATGCCCTGGCCCACAAGTATCACTAAG) | |
| 11 | g.5225598_5225726del | CA1139661787 | HBB | c.316_444del (p.Leu106_Ter148del) c.*132_*260del (n.*132_*260del) | ClinVar dbSNP |
| 11 | g.5225678del | CA2695213016 | HBB | c.364del (p.Glu122AsnfsTer?) n.296del c.*180del (n.*180del) | |
| 11 | g.5225678C>A | CA125263 | HBB | c.364G>T (p.Glu122Ter) n.296G>T c.*180G>T (n.*180G>T) | ClinVar dbSNP gnomAD v4 |
| 11 | g.5225678C= | CA1949564891 | HBB | c.364G= (p.Glu122=) n.296G= c.*180G= (n.*180G=) | |
| 11 | g.5225678C>G | CA124824 | HBB | c.364G>C (p.Glu122Gln) n.296G>C c.*180G>C (n.*180G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.[5225678C>G;5226612A>G] | CA037750 | HBB | c.[280T>C;364G>C] (p.[Cys94Arg;Glu122Gln]) n.[212T>C;296G>C] c.[*96T>C;*180G>C] (n.[*96T>C;*180G>C]) | ClinVar |
| 11 | g.[5225678C>G;5226943C>T] | CA037744 | HBB | c.[79G>A;364G>C] (p.[Glu27Lys;Glu122Gln]) c.[76+3G>A;*180G>C] (n.[76+3G>A;*180G>C]) | ClinVar |
| 11 | g.[5225678C>G;5226993G>T] | CA037933 | HBB | c.[29C>A;364G>C] (p.[Ser10Tyr;Glu122Gln]) c.[29C>A;*180G>C] ([p.Ser10Tyr;n.*180G>C]) | ClinVar |
| 11 | g.5225678C>T | CA125070 | HBB | c.364G>A (p.Glu122Lys) n.296G>A c.*180G>A (n.*180G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.[5225678C>T;5226988C>T] | CA037973 | HBB | c.[34G>A;364G>A] (p.[Val12Ile;Glu122Lys]) c.[34G>A;*180G>A] ([p.Val12Ile;n.*180G>A]) | ClinVar |
| 11 | g.[5225678C>T;5227002T>A] | CA037538 | HBB | c.[20A>T;364G>A] (p.[Glu7Val;Glu122Lys]) c.[20A>T;*180G>A] ([p.Glu7Val;n.*180G>A]) | ClinVar |
| 11 | g.5225679T>A | CA379273710 | HBB | c.363A>T (p.Lys121Asn) n.295A>T c.*179A>T (n.*179A>T) | |
| 11 | g.5225679T>C | CA472638452 | HBB | c.363A>G (p.Lys121=) n.295A>G c.*179A>G (n.*179A>G) | ClinVar dbSNP |
| 11 | g.5225679T>G | CA125130 | HBB | c.363A>C (p.Lys121Asn) n.295A>C c.*179A>C (n.*179A>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.5225679T= | CA1949564898 | HBB | c.363A= (p.Lys121=) n.295A= c.*179A= (n.*179A=) | |
| 11 | g.5225681dup | CA217112634 | HBB | c.363dup (p.Glu122ArgfsTer19) n.295dup c.*179dup (n.*179dup) | dbSNP |
| 11 | g.5225681del | CA2695213017 | HBB | c.363del (p.Glu122AsnfsTer?) n.295del c.*179del (n.*179del) | |
| 11 | g.5225680T>A | CA124967 | HBB | c.362A>T (p.Lys121Ile) n.294A>T c.*178A>T (n.*178A>T) | ClinVar dbSNP |
| 11 | g.5225680T>C | CA379273711 | HBB | c.362A>G (p.Lys121Arg) n.294A>G c.*178A>G (n.*178A>G) | |
| 11 | g.5225680T>G | CA379273712 | HBB | c.362A>C (p.Lys121Thr) n.294A>C c.*178A>C (n.*178A>C) | |
| 11 | g.5225680T= | CA1949564910 | HBB | c.362A= (p.Lys121=) n.294A= c.*178A= (n.*178A=) | |
| 11 | g.5225681T>A | CA379273713 | HBB | c.361A>T (p.Lys121Ter) n.293A>T c.*177A>T (n.*177A>T) | |
| 11 | g.5225681T>C | CA124900 | HBB | c.361A>G (p.Lys121Glu) n.293A>G c.*177A>G (n.*177A>G) | ClinVar dbSNP |
| 11 | g.5225681T>G | CA125199 | HBB | c.361A>C (p.Lys121Gln) n.293A>C c.*177A>C (n.*177A>C) | ClinVar dbSNP COSMIC |
| 11 | g.5225681T= | CA1949564921 | HBB | c.361A= (p.Lys121=) n.293A= c.*177A= (n.*177A=) | |
| 11 | g.5225682G>A | CA472638459 | HBB | c.360C>T (p.Gly120=) n.292C>T c.*176C>T (n.*176C>T) | |
| 11 | g.5225682G>C | CA472638461 | HBB | c.360C>G (p.Gly120=) n.292C>G c.*176C>G (n.*176C>G) | |
| 11 | g.5225682G>T | CA472638463 | HBB | c.360C>A (p.Gly120=) n.292C>A c.*176C>A (n.*176C>A) | gnomAD v4 |
| 11 | g.5225683C>A | CA124746 | HBB | c.359G>T (p.Gly120Val) n.291G>T c.*175G>T (n.*175G>T) | ClinVar dbSNP |
| 11 | g.5225683C= | CA1949564939 | HBB | c.359G= (p.Gly120=) n.291G= c.*175G= (n.*175G=) | |
| 11 | g.5225683C>G | CA125341 | HBB | c.359G>C (p.Gly120Ala) n.291G>C c.*175G>C (n.*175G>C) | ClinVar dbSNP gnomAD v4 |
| 11 | g.5225683C>T | CA037352 | HBB | c.359G>A (p.Gly120Asp) n.291G>A c.*175G>A (n.*175G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.[5225683C>T;5225699G>T] | CA037417 | HBB | c.[343C>A;359G>A] (p.[Leu115Met;Gly120Asp]) n.[275C>A;291G>A] c.[*159C>A;*175G>A] (n.[*159C>A;*175G>A]) | ClinVar |
| 11 | g.[5225683C>T;5225708C>G] | CA037400 | HBB | c.[334G>C;359G>A] (p.[Val112Leu;Gly120Asp]) n.[266G>C;291G>A] c.[*150G>C;*175G>A] (n.[*150G>C;*175G>A]) | ClinVar |
| 11 | g.5225684del | CA472638467 | HBB | c.359del (p.Gly120AlafsTer?) n.291del c.*175del (n.*175del) | COSMIC |