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.37006518C>A | CA272097 | NIPBL | c.4017C>A (p.Tyr1339Ter) c.1-58060C>A (n.1-58060C>A) c.3273C>A (p.Tyr1091Ter) c.3819C>A (p.Tyr1273Ter) c.3636C>A (p.Tyr1212Ter) c.3357C>A (p.Tyr1119Ter) c.2400C>A (p.Tyr800Ter) c.2391C>A (p.Tyr797Ter) | ClinVar dbSNP |
| 5 | g.37006518C>T | CA444096173 | NIPBL | c.4017C>T (p.Tyr1339=) c.1-58060C>T (n.1-58060C>T) c.3273C>T (p.Tyr1091=) c.3819C>T (p.Tyr1273=) c.3636C>T (p.Tyr1212=) c.3357C>T (p.Tyr1119=) c.2400C>T (p.Tyr800=) c.2391C>T (p.Tyr797=) | dbSNP gnomAD v2 gnomAD v4 |