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 |
|---|---|---|---|---|---|
| 19 | g.17816948T>A | CA404760786 | INSL3 | c.302A>T (p.His101Leu) c.397A>T (p.Thr133Ser) c.323A>T | |
| 19 | g.17816948T>C | CA404760787 | INSL3 | c.302A>G (p.His101Arg) c.397A>G (p.Thr133Ala) c.323A>G | |
| 19 | g.17816948T>G | CA306110561 | INSL3 | c.302A>C (p.His101Pro) c.397A>C (p.Thr133Pro) c.323A>C | dbSNP gnomAD v4 |
| 19 | g.17816948T= | CA2326044713 | INSL3 | c.302A= (p.His101=) c.397A= (p.Thr133=) c.323A= | |
| 19 | g.17816949G>A | CA404760788 | INSL3 | c.301C>T (p.His101Tyr) c.396C>T (p.Ile132=) c.322C>T | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.17816949G>C | CA404760789 | INSL3 | c.301C>G (p.His101Asp) c.396C>G (p.Ile132Met) c.322C>G | |
| 19 | g.17816949G>T | CA404760790 | INSL3 | c.301C>A (p.His101Asn) c.396C>A (p.Ile132=) c.322C>A | |
| 19 | g.17816950A>C | CA404760791 | INSL3 | c.300T>G (p.His100Gln) c.395T>G (p.Ile132Ser) c.321T>G | |
| 19 | g.17816950A>G | CA404760792 | INSL3 | c.300T>C (p.His100=) c.395T>C (p.Ile132Thr) c.321T>C | |
| 19 | g.17816950A>T | CA404760793 | INSL3 | c.300T>A (p.His100Gln) c.395T>A (p.Ile132Asn) c.321T>A | gnomAD v4 |
| 19 | g.17816951T>A | CA404760794 | INSL3 | c.299A>T (p.His100Leu) c.394A>T (p.Ile132Phe) c.320A>T | |
| 19 | g.17816951T>C | CA404760795 | INSL3 | c.299A>G (p.His100Arg) c.394A>G (p.Ile132Val) c.320A>G | dbSNP gnomAD v4 |
| 19 | g.17816951T>G | CA404760796 | INSL3 | c.299A>C (p.His100Pro) c.394A>C (p.Ile132Leu) c.320A>C | |
| 19 | g.17816951T= | CA2326044714 | INSL3 | c.299A= (p.His100=) c.394A= (p.Ile132=) c.320A= | |
| 19 | g.17816952G>A | CA404760797 | INSL3 | c.298C>T (p.His100Tyr) c.393C>T (p.Thr131=) c.319C>T | |
| 19 | g.17816952G>C | CA404760799 | INSL3 | c.298C>G (p.His100Asp) c.393C>G (p.Thr131=) c.319C>G | |
| 19 | g.17816952G= | CA2326044715 | INSL3 | c.298C= (p.His100=) c.393C= (p.Thr131=) c.319C= | |
| 19 | g.17816952G>T | CA404760798 | INSL3 | c.298C>A (p.His100Asn) c.393C>A (p.Thr131=) c.319C>A | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.17816953G>A | CA404760800 | INSL3 | c.297C>T (p.His99=) c.392C>T (p.Thr131Ile) c.318C>T | |
| 19 | g.17816953G>C | CA404760801 | INSL3 | c.297C>G (p.His99Gln) c.392C>G (p.Thr131Ser) c.318C>G | gnomAD v4 |
| 19 | g.17816953G>T | CA404760802 | INSL3 | c.297C>A (p.His99Gln) c.392C>A (p.Thr131Asn) c.318C>A | |
| 19 | g.17816954_17816959dup | CA2583419018 | INSL3 | c.292_297dup (p.His99_His100insSerHis) c.387_392dup (p.Thr131_Ile132insLeuThr) c.313_318dup | gnomAD v4 |
| 19 | g.17816954T>A | CA404760803 | INSL3 | c.296A>T (p.His99Leu) c.391A>T (p.Thr131Ser) c.317A>T | |
| 19 | g.17816954T>C | CA404760804 | INSL3 | c.296A>G (p.His99Arg) c.391A>G (p.Thr131Ala) c.317A>G | gnomAD v4 |
| 19 | g.17816954T>G | CA404760805 | INSL3 | c.296A>C (p.His99Pro) c.391A>C (p.Thr131Pro) c.317A>C | |
| 19 | g.17816955G>A | CA404760806 | INSL3 | c.295C>T (p.His99Tyr) c.390C>T (p.Leu130=) c.316C>T | gnomAD v4 |
| 19 | g.17816955G>C | CA404760807 | INSL3 | c.295C>G (p.His99Asp) c.390C>G (p.Leu130=) c.316C>G | |
| 19 | g.17816955G>T | CA404760808 | INSL3 | c.295C>A (p.His99Asn) c.390C>A (p.Leu130=) c.316C>A | |
| 19 | g.17816956A>C | CA404760809 | INSL3 | c.294T>G (p.Ser98=) c.389T>G (p.Leu130Arg) c.315T>G | |
| 19 | g.17816956A>G | CA404760810 | INSL3 | c.294T>C (p.Ser98=) c.389T>C (p.Leu130Pro) c.315T>C | |
| 19 | g.17816956A>T | CA404760811 | INSL3 | c.294T>A (p.Ser98=) c.389T>A (p.Leu130His) c.315T>A | |
| 19 | g.17816957G>A | CA404760814 | INSL3 | c.293C>T (p.Ser98Phe) c.388C>T (p.Leu130Phe) c.314C>T | |
| 19 | g.17816957G>C | CA404760813 | INSL3 | c.293C>G (p.Ser98Cys) c.388C>G (p.Leu130Val) c.314C>G | |
| 19 | g.17816957G>T | CA404760812 | INSL3 | c.293C>A (p.Ser98Tyr) c.388C>A (p.Leu130Ile) c.314C>A | |
| 19 | g.17816958A>C | CA404760815 | INSL3 | c.292T>G (p.Ser98Ala) c.387T>G (p.Pro129=) c.313T>G | |
| 19 | g.17816958A>G | CA404760816 | INSL3 | c.292T>C (p.Ser98Pro) c.387T>C (p.Pro129=) c.313T>C | |
| 19 | g.17816958A>T | CA404760817 | INSL3 | c.292T>A (p.Ser98Thr) c.387T>A (p.Pro129=) c.313T>A | |
| 19 | g.17816959G>A | CA404760818 | INSL3 | c.291C>T (p.Thr97=) c.386C>T (p.Pro129Leu) c.312C>T | gnomAD v4 COSMIC |
| 19 | g.17816959G>C | CA404760819 | INSL3 | c.291C>G (p.Thr97=) c.386C>G (p.Pro129Arg) c.312C>G | |
| 19 | g.17816959G>T | CA404760820 | INSL3 | c.291C>A (p.Thr97=) c.386C>A (p.Pro129His) c.312C>A | |
| 19 | g.17816960G>A | CA404760821 | INSL3 | c.290C>T (p.Thr97Ile) c.385C>T (p.Pro129Ser) c.311C>T | gnomAD v4 |
| 19 | g.17816960G>C | CA404760822 | INSL3 | c.290C>G (p.Thr97Ser) c.385C>G (p.Pro129Ala) c.311C>G | |
| 19 | g.17816960G>T | CA404760823 | INSL3 | c.290C>A (p.Thr97Asn) c.385C>A (p.Pro129Thr) c.311C>A | gnomAD v4 |
| 19 | g.17816961T>A | CA404760824 | INSL3 | c.289A>T (p.Thr97Ser) c.384A>T (p.Arg128Ser) c.310A>T | |
| 19 | g.17816961T>C | CA404760825 | INSL3 | c.289A>G (p.Thr97Ala) c.384A>G (p.Arg128=) c.310A>G | |
| 19 | g.17816961T>G | CA404760826 | INSL3 | c.289A>C (p.Thr97Pro) c.384A>C (p.Arg128Ser) c.310A>C | |
| 19 | g.17816962C>A | CA404760827 | INSL3 | c.288G>T (p.Gln96His) c.383G>T (p.Arg128Ile) c.309G>T | |
| 19 | g.17816962C= | CA2326044716 | INSL3 | c.288G= (p.Gln96=) c.383G= (p.Arg128=) c.309G= | |
| 19 | g.17816962C>G | CA404760829 | INSL3 | c.288G>C (p.Gln96His) c.383G>C (p.Arg128Thr) c.309G>C | |
| 19 | g.17816962C>T | CA404760828 | INSL3 | c.288G>A (p.Gln96=) c.383G>A (p.Arg128Lys) c.309G>A | dbSNP gnomAD v4 |