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 |
|---|---|---|---|---|---|
| 8 | g.18400465_18400497delinsAGAGAGAGGAATCTGGTACCTGGACCAAATCAG | CA1768218995 | NAT2 | c.462_494delinsAGAGAGAGGAATCTGGTACCTGGACCAAATCAG (p.Glu154=) c.72_104delinsAGAGAGAGGAATCTGGTACCTGGACCAAATCAG (p.Glu24=) | |
| 8 | g.18400473_18400504del | CA1768218996 | NAT2 | c.470_501del (p.Gly157AlafsTer10) c.80_111del (p.Gly27AlafsTer10) | dbSNP |
| 8 | g.18400479G>A | CA370635961 | NAT2 | c.476G>A (p.Trp159Ter) c.86G>A (p.Trp29Ter) | |
| 8 | g.18400479G>C | CA370635962 | NAT2 | c.476G>C (p.Trp159Ser) c.86G>C (p.Trp29Ser) | |
| 8 | g.18400479G>T | CA370635963 | NAT2 | c.476G>T (p.Trp159Leu) c.86G>T (p.Trp29Leu) | |
| 8 | g.18400480G>A | CA370635964 | NAT2 | c.477G>A (p.Trp159Ter) c.87G>A (p.Trp29Ter) | |
| 8 | g.18400480G>C | CA370635965 | NAT2 | c.477G>C (p.Trp159Cys) c.87G>C (p.Trp29Cys) | |
| 8 | g.18400480G>T | CA370635966 | NAT2 | c.477G>T (p.Trp159Cys) c.87G>T (p.Trp29Cys) | |
| 8 | g.18400481T>A | CA370635967 | NAT2 | c.478T>A (p.Tyr160Asn) c.88T>A (p.Tyr30Asn) | |
| 8 | g.18400481T>C | CA370635968 | NAT2 | c.478T>C (p.Tyr160His) c.88T>C (p.Tyr30His) | |
| 8 | g.18400481T>G | CA370635969 | NAT2 | c.478T>G (p.Tyr160Asp) c.88T>G (p.Tyr30Asp) | |
| 8 | g.18400482A>C | CA370635972 | NAT2 | c.479A>C (p.Tyr160Ser) c.89A>C (p.Tyr30Ser) | |
| 8 | g.18400482A>G | CA370635971 | NAT2 | c.479A>G (p.Tyr160Cys) c.89A>G (p.Tyr30Cys) | |
| 8 | g.18400482A>T | CA370635970 | NAT2 | c.479A>T (p.Tyr160Phe) c.89A>T (p.Tyr30Phe) | |
| 8 | g.18400483C>A | CA370635973 | NAT2 | c.480C>A (p.Tyr160Ter) c.90C>A (p.Tyr30Ter) | |
| 8 | g.18400483C= | CA1768219005 | NAT2 | c.480C= (p.Tyr160=) c.90C= (p.Tyr30=) | |
| 8 | g.18400483C>G | CA370635974 | NAT2 | c.480C>G (p.Tyr160Ter) c.90C>G (p.Tyr30Ter) | |
| 8 | g.18400483C>T | CA173519924 | NAT2 | c.480C>T (p.Tyr160=) c.90C>T (p.Tyr30=) | dbSNP |
| 8 | g.18400484C>A | CA370635975 | NAT2 | c.481C>A (p.Leu161Met) c.91C>A (p.Leu31Met) | |
| 8 | g.18400484C= | CA1768219006 | NAT2 | c.481C= (p.Leu161=) c.91C= (p.Leu31=) | |
| 8 | g.18400484C>G | CA370635976 | NAT2 | c.481C>G (p.Leu161Val) c.91C>G (p.Leu31Val) | |
| 8 | g.18400484C>T | CA4651631 | NAT2 | c.481C>T (p.Leu161=) c.91C>T (p.Leu31=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.18400485T>A | CA370635977 | NAT2 | c.482T>A (p.Leu161Gln) c.92T>A (p.Leu31Gln) | |
| 8 | g.18400485T>C | CA370635978 | NAT2 | c.482T>C (p.Leu161Pro) c.92T>C (p.Leu31Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.18400485T>G | CA370635979 | NAT2 | c.482T>G (p.Leu161Arg) c.92T>G (p.Leu31Arg) | |
| 8 | g.18400485T= | CA1768219007 | NAT2 | c.482T= (p.Leu161=) c.92T= (p.Leu31=) | |
| 8 | g.18400486G>A | CA459881143 | NAT2 | c.483G>A (p.Leu161=) c.93G>A (p.Leu31=) | gnomAD v4 |
| 8 | g.18400486G>C | CA459881141 | NAT2 | c.483G>C (p.Leu161=) c.93G>C (p.Leu31=) | |
| 8 | g.18400486G>T | CA459881142 | NAT2 | c.483G>T (p.Leu161=) c.93G>T (p.Leu31=) | |
| 8 | g.18400487G>A | CA370635980 | NAT2 | c.484G>A (p.Asp162Asn) c.94G>A (p.Asp32Asn) | |
| 8 | g.18400487G>C | CA370635981 | NAT2 | c.484G>C (p.Asp162His) c.94G>C (p.Asp32His) | gnomAD v4 |
| 8 | g.18400487G>T | CA370635982 | NAT2 | c.484G>T (p.Asp162Tyr) c.94G>T (p.Asp32Tyr) | |
| 8 | g.18400488A>C | CA370635985 | NAT2 | c.485A>C (p.Asp162Ala) c.95A>C (p.Asp32Ala) | gnomAD v4 |
| 8 | g.18400488A>G | CA370635984 | NAT2 | c.485A>G (p.Asp162Gly) c.95A>G (p.Asp32Gly) | |
| 8 | g.18400488A>T | CA370635983 | NAT2 | c.485A>T (p.Asp162Val) c.95A>T (p.Asp32Val) | |
| 8 | g.18400489C>A | CA370635986 | NAT2 | c.486C>A (p.Asp162Glu) c.96C>A (p.Asp32Glu) | |
| 8 | g.18400489C= | CA1768219008 | NAT2 | c.486C= (p.Asp162=) c.96C= (p.Asp32=) | |
| 8 | g.18400489C>G | CA173519925 | NAT2 | c.486C>G (p.Asp162Glu) c.96C>G (p.Asp32Glu) | dbSNP |
| 8 | g.18400489C>T | CA459881144 | NAT2 | c.486C>T (p.Asp162=) c.96C>T (p.Asp32=) | |
| 8 | g.18400490C>A | CA370635987 | NAT2 | c.487C>A (p.Gln163Lys) c.97C>A (p.Gln33Lys) | gnomAD v4 |
| 8 | g.18400490C>G | CA370635988 | NAT2 | c.487C>G (p.Gln163Glu) c.97C>G (p.Gln33Glu) | |
| 8 | g.18400490C>T | CA370635989 | NAT2 | c.487C>T (p.Gln163Ter) c.97C>T (p.Gln33Ter) | COSMIC |
| 8 | g.18400491A>C | CA370635990 | NAT2 | c.488A>C (p.Gln163Pro) c.98A>C (p.Gln33Pro) | |
| 8 | g.18400491A>G | CA370635991 | NAT2 | c.488A>G (p.Gln163Arg) c.98A>G (p.Gln33Arg) | |
| 8 | g.18400491A>T | CA370635992 | NAT2 | c.488A>T (p.Gln163Leu) c.98A>T (p.Gln33Leu) | |
| 8 | g.18400492A>C | CA370635993 | NAT2 | c.489A>C (p.Gln163His) c.99A>C (p.Gln33His) | |
| 8 | g.18400492A>G | CA459881145 | NAT2 | c.489A>G (p.Gln163=) c.99A>G (p.Gln33=) | |
| 8 | g.18400492A>T | CA370635994 | NAT2 | c.489A>T (p.Gln163His) c.99A>T (p.Gln33His) | |
| 8 | g.18400493A>C | CA370635995 | NAT2 | c.490A>C (p.Ile164Leu) c.100A>C (p.Ile34Leu) | |
| 8 | g.18400493A>G | CA370635996 | NAT2 | c.490A>G (p.Ile164Val) c.100A>G (p.Ile34Val) |