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 |
|---|---|---|---|---|---|
| 5 | g.173234748_173235311delinsACCTTTCTTTTCGGCTCTAGGGTCCTTGGCTGGGTCGGGGTCGCTGTAGGCACGTGGATAGAAGGCGGGGGCGGCGGGAAAGGCAGACGCACACTTGGCCGGTGAAGGCGCGCGGCCCAGCTCTGCGCGCAGCTCTGGGAGGCCCGGCGCAGCCGCCTCGGGCCCAGCGTAGGCCTCTGGCTTGAAGGCGGCCAGCATGCAGGAGGAGGGCGCCAGGGTCGCCTCCAGGCGGGCAGAGAGCTCTCCGGCGGCAGCCAGGCTGCGCTGCTGCTGTTCCAGGTTTAGGATGTCTTTGACTGAGAAGGGCGTGGGCGTGAGAGCAGGGCTGGGGAACATGGTGGCAGCGCCAGTCTCACAGCGCCAGGTGGGCGGCAGAAAGCGGCGCTGCCCACGGCCCCTGGCAGCTTCCCTGCATGGTGCCGCCGCCCGCCCGCGCACCCGTCGGCCAGCTCTGGATGTGTCCGGGCAGCAGGTAGCGCTGAGCACAAGGGGCAGGAGAGGCGGGACCAGGCCAGAGGAGGGGGACTCAGCCTGCCATTGGGCCAGGGGCCTCGATGACAGGAG | CA1601616961 | NKX2-5 | c.-228_334+2delinsCTCCTGTCATCGAGGCCCCTGGCCCAATGGCAGGCTGAGTCCCCCTCCTCTGGCCTGGTCCCGCCTCTCCTGCCCCTTGTGCTCAGCGCTACCTGCTGCCCGGACACATCCAGAGCTGGCCGACGGGTGCGCGGGCGGGCGGCGGCACCATGCAGGGAAGCTGCCAGGGGCCGTGGGCAGCGCCGCTTTCTGCCGCCCACCTGGCGCTGTGAGACTGGCGCTGCCACCATGTTCCCCAGCCCTGCTCTCACGCCCACGCCCTTCTCAGTCAAAGACATCCTAAACCTGGAACAGCAGCAGCGCAGCCTGGCTGCCGCCGGAGAGCTCTCTGCCCGCCTGGAGGCGACCCTGGCGCCCTCCTCCTGCATGCTGGCCGCCTTCAAGCCAGAGGCCTACGCTGGGCCCGAGGCGGCTGCGCCGGGCCTCCCAGAGCTGCGCGCAGAGCTGGGCCGCGCGCCTTCACCGGCCAAGTGTGCGTCTGCCTTTCCCGCCGCCCCCGCCTTCTATCCACGTGCCTACAGCGACCCCGACCCAGCCAAGGACCCTAGAGCCGAAAAGAAAGGT | |
| 5 | g.173234750_173235312del | CA915942752 | NKX2-5 | c.-228_334+1del | ClinVar dbSNP |
| 5 | g.173234920_173234937delinsGCCTCTGGCTTGAAGGCG | CA1601617050 | NKX2-5 | c.147_164delinsCGCCTTCAAGCCAGAGGC (p.Ala49=) | |
| 5 | g.173234925_173234972dup | CA2582341657 | NKX2-5 | c.117_164dup (p.Ala55_Tyr56insThrLeuAlaProSerSerCysMetLeuAlaAlaPheLysProGluAla) | ClinVar |
| 5 | g.173234921_173234937delinsAGGAGGC | CA891842716 | NKX2-5 | c.147_163delinsGCCTCCT (p.Ala50ProfsTer?) | ClinVar dbSNP |
| 5 | g.173234931G>A | CA447975242 | NKX2-5 | c.153C>T (p.Phe51=) | |
| 5 | g.173234931G>C | CA362163582 | NKX2-5 | c.153C>G (p.Phe51Leu) | |
| 5 | g.173234931G>T | CA362163583 | NKX2-5 | c.153C>A (p.Phe51Leu) | |
| 5 | g.173234932A>C | CA362163585 | NKX2-5 | c.152T>G (p.Phe51Cys) | |
| 5 | g.173234932A>G | CA362163586 | NKX2-5 | c.152T>C (p.Phe51Ser) | |
| 5 | g.173234932A>T | CA362163584 | NKX2-5 | c.152T>A (p.Phe51Tyr) | |
| 5 | g.173234933A= | CA1601617057 | NKX2-5 | c.151T= (p.Phe51=) | |
| 5 | g.173234933A>C | CA362163588 | NKX2-5 | c.151T>G (p.Phe51Val) | |
| 5 | g.173234933A>G | CA3563841 | NKX2-5 | c.151T>C (p.Phe51Leu) | dbSNP ExAC gnomAD v2 |
| 5 | g.173234933A>T | CA362163587 | NKX2-5 | c.151T>A (p.Phe51Ile) | |
| 5 | g.173234934G>A | CA447975245 | NKX2-5 | c.150C>T (p.Ala50=) | |
| 5 | g.173234934G>C | CA447975246 | NKX2-5 | c.150C>G (p.Ala50=) | |
| 5 | g.173234934G>T | CA447975247 | NKX2-5 | c.150C>A (p.Ala50=) | |
| 5 | g.173234935G>A | CA362163589 | NKX2-5 | c.149C>T (p.Ala50Val) | |
| 5 | g.173234935G>C | CA362163590 | NKX2-5 | c.149C>G (p.Ala50Gly) | |
| 5 | g.173234935G>T | CA362163591 | NKX2-5 | c.149C>A (p.Ala50Asp) | |
| 5 | g.173234936C>A | CA362163594 | NKX2-5 | c.148G>T (p.Ala50Ser) | gnomAD v4 |
| 5 | g.173234936C>G | CA362163593 | NKX2-5 | c.148G>C (p.Ala50Pro) | |
| 5 | g.173234936C>T | CA362163592 | NKX2-5 | c.148G>A (p.Ala50Thr) | gnomAD v4 |
| 5 | g.173234937G>A | CA447975252 | NKX2-5 | c.147C>T (p.Ala49=) | gnomAD v4 COSMIC |
| 5 | g.173234937G>C | CA16604869 | NKX2-5 | c.147C>G (p.Ala49=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.173234937G= | CA1601617058 | NKX2-5 | c.147C= (p.Ala49=) | |
| 5 | g.173234937G>T | CA447975251 | NKX2-5 | c.147C>A (p.Ala49=) | |
| 5 | g.173234938G>A | CA362163595 | NKX2-5 | c.146C>T (p.Ala49Val) | gnomAD v4 |
| 5 | g.173234938G>C | CA362163596 | NKX2-5 | c.146C>G (p.Ala49Gly) | |
| 5 | g.173234938G>T | CA362163597 | NKX2-5 | c.146C>A (p.Ala49Asp) | |
| 5 | g.173234939C>A | CA362163598 | NKX2-5 | c.145G>T (p.Ala49Ser) | |
| 5 | g.173234939C>G | CA362163599 | NKX2-5 | c.145G>C (p.Ala49Pro) | |
| 5 | g.173234939C>T | CA362163600 | NKX2-5 | c.145G>A (p.Ala49Thr) | |
| 5 | g.173234940C>A | CA447975256 | NKX2-5 | c.144G>T (p.Leu48=) | |
| 5 | g.173234940C>G | CA447975257 | NKX2-5 | c.144G>C (p.Leu48=) | |
| 5 | g.173234940C>T | CA447975258 | NKX2-5 | c.144G>A (p.Leu48=) | |
| 5 | g.173234941A= | CA1601617059 | NKX2-5 | c.143T= (p.Leu48=) | |
| 5 | g.173234941A>C | CA362163601 | NKX2-5 | c.143T>G (p.Leu48Arg) | gnomAD v4 |
| 5 | g.173234941A>G | CA362163603 | NKX2-5 | c.143T>C (p.Leu48Pro) | ClinVar dbSNP gnomAD v2 |
| 5 | g.173234941A>T | CA362163602 | NKX2-5 | c.143T>A (p.Leu48Gln) | |
| 5 | g.173234942G>A | CA447975259 | NKX2-5 | c.142C>T (p.Leu48=) | |
| 5 | g.173234942G>C | CA362163604 | NKX2-5 | c.142C>G (p.Leu48Val) | gnomAD v4 |
| 5 | g.173234942G>T | CA362163605 | NKX2-5 | c.142C>A (p.Leu48Met) | |
| 5 | g.173234944_173234960del | CA2695205824 | NKX2-5 | c.126_142del (p.Pro43GlyfsTer?) | |
| 5 | g.173234943C>A | CA362163606 | NKX2-5 | c.141G>T (p.Met47Ile) | |
| 5 | g.173234943C>G | CA362163607 | NKX2-5 | c.141G>C (p.Met47Ile) | |
| 5 | g.173234943C>T | CA362163608 | NKX2-5 | c.141G>A (p.Met47Ile) | |
| 5 | g.173234944A>C | CA362163609 | NKX2-5 | c.140T>G (p.Met47Arg) | |
| 5 | g.173234944A>G | CA362163610 | NKX2-5 | c.140T>C (p.Met47Thr) |