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 |
|---|---|---|---|---|---|
| Y | g.6872585G>A | CA519498515 | AMELY | c.24C>T (p.Ala8=) | |
| Y | g.6872585G>C | CA519498517 | AMELY | c.24C>G (p.Ala8=) | |
| Y | g.6872585G>T | CA519498518 | AMELY | c.24C>A (p.Ala8=) | |
| Y | g.6872586G>A | CA414969717 | AMELY | c.23C>T (p.Ala8Val) | |
| Y | g.6872586G>C | CA414969720 | AMELY | c.23C>G (p.Ala8Gly) | |
| Y | g.6872586G>T | CA414969722 | AMELY | c.23C>A (p.Ala8Asp) | |
| Y | g.6872587C>A | CA414969724 | AMELY | c.22G>T (p.Ala8Ser) | COSMIC |
| Y | g.6872587C>G | CA414969726 | AMELY | c.22G>C (p.Ala8Pro) | |
| Y | g.6872587C>T | CA414969727 | AMELY | c.22G>A (p.Ala8Thr) | |
| Y | g.6872588A>C | CA414969730 | AMELY | c.21T>G (p.Phe7Leu) | |
| Y | g.6872588A>G | CA519498526 | AMELY | c.21T>C (p.Phe7=) | |
| Y | g.6872588A>T | CA414969731 | AMELY | c.21T>A (p.Phe7Leu) | |
| Y | g.6872590_6872595del | CA2766273060 | AMELY | c.16_21del (p.Leu6_Phe7del) | |
| Y | g.6872589A>C | CA414969736 | AMELY | c.20T>G (p.Phe7Cys) | |
| Y | g.6872589A>G | CA414969733 | AMELY | c.20T>C (p.Phe7Ser) | |
| Y | g.6872589A>T | CA414969735 | AMELY | c.20T>A (p.Phe7Tyr) | |
| Y | g.6872590A>C | CA414969737 | AMELY | c.19T>G (p.Phe7Val) | |
| Y | g.6872590A>G | CA414969738 | AMELY | c.19T>C (p.Phe7Leu) | |
| Y | g.6872590A>T | CA414969739 | AMELY | c.19T>A (p.Phe7Ile) | |
| Y | g.6872591C>A | CA414969741 | AMELY | c.18G>T (p.Leu6Phe) | |
| Y | g.6872591C>G | CA414969744 | AMELY | c.18G>C (p.Leu6Phe) | |
| Y | g.6872591C>T | CA519498537 | AMELY | c.18G>A (p.Leu6=) | |
| Y | g.6872591_6872592delinsCA | CA2469903475 | AMELY | c.17_18delinsTG (p.Leu6=) | |
| Y | g.6872592A>C | CA414969747 | AMELY | c.17T>G (p.Leu6Trp) | |
| Y | g.6872592A>G | CA414969750 | AMELY | c.17T>C (p.Leu6Ser) | |
| Y | g.6872592A>T | CA414969753 | AMELY | c.17T>A (p.Leu6Ter) | |
| Y | g.6872595del | CA1138822826 | AMELY | c.17del (p.Leu6CysfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
| Y | g.6872593A>C | CA414969756 | AMELY | c.16T>G (p.Leu6Val) | |
| Y | g.6872593A>G | CA519498542 | AMELY | c.16T>C (p.Leu6=) | |
| Y | g.6872593A>T | CA414969759 | AMELY | c.16T>A (p.Leu6Met) | |
| Y | g.6872594A= | CA2469903476 | AMELY | c.15T= (p.Ile5=) | |
| Y | g.6872594A>C | CA414969763 | AMELY | c.15T>G (p.Ile5Met) | |
| Y | g.6872594A>G | CA519498546 | AMELY | c.15T>C (p.Ile5=) | |
| Y | g.6872594A>T | CA519498548 | AMELY | c.15T>A (p.Ile5=) | dbSNP |
| Y | g.6872595A>C | CA414969769 | AMELY | c.14T>G (p.Ile5Ser) | |
| Y | g.6872595A>G | CA414969766 | AMELY | c.14T>C (p.Ile5Thr) | |
| Y | g.6872595A>T | CA414969773 | AMELY | c.14T>A (p.Ile5Asn) | |
| Y | g.6872596T>A | CA414969777 | AMELY | c.13A>T (p.Ile5Phe) | |
| Y | g.6872596T>C | CA414969781 | AMELY | c.13A>G (p.Ile5Val) | |
| Y | g.6872596T>G | CA414969783 | AMELY | c.13A>C (p.Ile5Leu) | |
| Y | g.6872597C>A | CA414969787 | AMELY | c.12G>T (p.Trp4Cys) | |
| Y | g.6872597C>G | CA414969789 | AMELY | c.12G>C (p.Trp4Cys) | |
| Y | g.6872597C>T | CA414969793 | AMELY | c.12G>A (p.Trp4Ter) | |
| Y | g.6872598C>A | CA414969796 | AMELY | c.11G>T (p.Trp4Leu) | |
| Y | g.6872598C>G | CA414969799 | AMELY | c.11G>C (p.Trp4Ser) | |
| Y | g.6872598C>T | CA414969801 | AMELY | c.11G>A (p.Trp4Ter) | |
| Y | g.6872599A>C | CA414969803 | AMELY | c.10T>G (p.Trp4Gly) | |
| Y | g.6872599A>G | CA414969804 | AMELY | c.10T>C (p.Trp4Arg) | |
| Y | g.6872599A>T | CA414969807 | AMELY | c.10T>A (p.Trp4Arg) | |
| Y | g.6872600G>A | CA519498563 | AMELY | c.9C>T (p.Thr3=) |