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.173234921C>A | CA362163560 | NKX2-5 | c.163G>T (p.Ala55Ser) | |
| 5 | g.173234921C= | CA1601617051 | NKX2-5 | c.163G= (p.Ala55=) | |
| 5 | g.173234921C>G | CA362163561 | NKX2-5 | c.163G>C (p.Ala55Pro) | |
| 5 | g.173234921C>T | CA132260444 | NKX2-5 | c.163G>A (p.Ala55Thr) | dbSNP gnomAD v4 |
| 5 | g.173234921_173234937delinsAGGAGGC | CA891842716 | NKX2-5 | c.147_163delinsGCCTCCT (p.Ala50ProfsTer?) | ClinVar dbSNP |
| 5 | g.173234922C>A | CA132260451 | NKX2-5 | c.162G>T (p.Glu54Asp) | dbSNP |
| 5 | g.173234922C= | CA1601617052 | NKX2-5 | c.162G= (p.Glu54=) | |
| 5 | g.173234922C>G | CA362163562 | NKX2-5 | c.162G>C (p.Glu54Asp) | |
| 5 | g.173234922C>T | CA447975232 | NKX2-5 | c.162G>A (p.Glu54=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.173234923T>A | CA362163563 | NKX2-5 | c.161A>T (p.Glu54Val) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.173234923T>C | CA362163564 | NKX2-5 | c.161A>G (p.Glu54Gly) | |
| 5 | g.173234923T>G | CA362163565 | NKX2-5 | c.161A>C (p.Glu54Ala) | |
| 5 | g.173234923T= | CA1601617053 | NKX2-5 | c.161A= (p.Glu54=) | |
| 5 | g.173234924C>A | CA362163566 | NKX2-5 | c.160G>T (p.Glu54Ter) | COSMIC |
| 5 | g.173234924C>G | CA362163567 | NKX2-5 | c.160G>C (p.Glu54Gln) | gnomAD v4 |
| 5 | g.173234924C>T | CA362163568 | NKX2-5 | c.160G>A (p.Glu54Lys) | |
| 5 | g.173234924_173234925insGGGCCAGC | CA1139659258 | NKX2-5 | c.160_161insCTGGCCCG (p.Glu54AlafsTer?) | ClinVar dbSNP |
| 5 | g.173234925T>A | CA447975236 | NKX2-5 | c.159A>T (p.Pro53=) | ClinVar dbSNP |
| 5 | g.173234925T>C | CA447975237 | NKX2-5 | c.159A>G (p.Pro53=) | |
| 5 | g.173234925T>G | CA447975238 | NKX2-5 | c.159A>C (p.Pro53=) | dbSNP |
| 5 | g.173234925T= | CA1601617054 | NKX2-5 | c.159A= (p.Pro53=) | |
| 5 | g.173234926G>A | CA362163571 | NKX2-5 | c.158C>T (p.Pro53Leu) | |
| 5 | g.173234926G>C | CA362163570 | NKX2-5 | c.158C>G (p.Pro53Arg) | |
| 5 | g.173234926G>T | CA362163569 | NKX2-5 | c.158C>A (p.Pro53Gln) | |
| 5 | g.173234927G>A | CA362163572 | NKX2-5 | c.157C>T (p.Pro53Ser) | |
| 5 | g.173234927G>C | CA362163573 | NKX2-5 | c.157C>G (p.Pro53Ala) | |
| 5 | g.173234927G>T | CA362163574 | NKX2-5 | c.157C>A (p.Pro53Thr) | |
| 5 | g.173234928C>A | CA362163575 | NKX2-5 | c.156G>T (p.Lys52Asn) | ClinVar |
| 5 | g.173234928C= | CA1601617055 | NKX2-5 | c.156G= (p.Lys52=) | |
| 5 | g.173234928C>G | CA362163576 | NKX2-5 | c.156G>C (p.Lys52Asn) | |
| 5 | g.173234928C>T | CA447975240 | NKX2-5 | c.156G>A (p.Lys52=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.173234929T>A | CA362163577 | NKX2-5 | c.155A>T (p.Lys52Met) | |
| 5 | g.173234929T>C | CA362163578 | NKX2-5 | c.155A>G (p.Lys52Arg) | |
| 5 | g.173234929T>G | CA362163579 | NKX2-5 | c.155A>C (p.Lys52Thr) | |
| 5 | g.173234930T>A | CA362163580 | NKX2-5 | c.154A>T (p.Lys52Ter) | |
| 5 | g.173234930T>C | CA362163581 | NKX2-5 | c.154A>G (p.Lys52Glu) | |
| 5 | g.173234930T>G | CA3563840 | NKX2-5 | c.154A>C (p.Lys52Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.173234930T= | CA1601617056 | NKX2-5 | c.154A= (p.Lys52=) | |
| 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) |