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.640937del | CA920481660 | c.544+59del (n.544+59del) | dbSNP | |
| Y | g.640939C= | CA2467802649 | c.545-60C= (n.545-60C=) | ||
| Y | g.640939C>T | CA2467802650 | c.545-60C>T (n.545-60C>T) | dbSNP | |
| Y | g.640940G>A | CA2467802651 | c.545-59G>A (n.545-59G>A) | dbSNP | |
| Y | g.640940G= | CA2467802652 | c.545-59G= (n.545-59G=) | ||
| Y | g.640942C= | CA2467802653 | c.545-57C= (n.545-57C=) | ||
| Y | g.640942C>T | CA2467802654 | c.545-57C>T (n.545-57C>T) | dbSNP | |
| Y | g.640943G>A | CA2467802656 | c.545-56G>A (n.545-56G>A) | dbSNP | |
| Y | g.640943G= | CA2467802655 | c.545-56G= (n.545-56G=) | ||
| Y | g.640946G= | CA2467802657 | c.545-53G= (n.545-53G=) | ||
| Y | g.640946G>T | CA2467802658 | c.545-53G>T (n.545-53G>T) | dbSNP | |
| Y | g.640951G>A | CA2467802660 | c.545-48G>A (n.545-48G>A) | dbSNP | |
| Y | g.640951G= | CA2467802659 | c.545-48G= (n.545-48G=) | ||
| Y | g.640952G>A | CA2467802662 | c.545-47G>A (n.545-47G>A) | dbSNP | |
| Y | g.640952G= | CA2467802661 | c.545-47G= (n.545-47G=) | ||
| Y | g.640959C= | CA2467802663 | c.545-40C= (n.545-40C=) | ||
| Y | g.640959C>T | CA2467802664 | c.545-40C>T (n.545-40C>T) | dbSNP | |
| Y | g.640961A= | CA2467802665 | c.545-38A= (n.545-38A=) | ||
| Y | g.640961A>G | CA2467802666 | c.545-38A>G (n.545-38A>G) | dbSNP | |
| Y | g.640963G>A | CA2467802668 | c.545-36G>A (n.545-36G>A) | dbSNP | |
| Y | g.640963G= | CA2467802667 | c.545-36G= (n.545-36G=) | ||
| Y | g.640966C= | CA2467802669 | c.545-33C= (n.545-33C=) | ||
| Y | g.640966C>T | CA2467802670 | c.545-33C>T (n.545-33C>T) | dbSNP | |
| Y | g.640969C= | CA2467802673 | c.545-30C= (n.545-30C=) | ||
| Y | g.640969C>G | CA2467802672 | c.545-30C>G (n.545-30C>G) | dbSNP | |
| Y | g.640969C>T | CA2467802671 | c.545-30C>T (n.545-30C>T) | dbSNP | |
| Y | g.640971C= | CA2467802674 | c.545-28C= (n.545-28C=) | ||
| Y | g.640971C>T | CA2467802675 | c.545-28C>T (n.545-28C>T) | dbSNP | |
| Y | g.640973C>A | CA2467802677 | c.545-26C>A (n.545-26C>A) | dbSNP | |
| Y | g.640973C= | CA2467802676 | c.545-26C= (n.545-26C=) | ||
| Y | g.640982G= | CA2467802678 | c.545-17G= (n.545-17G=) | ||
| Y | g.640982G>T | CA2467802679 | c.545-17G>T (n.545-17G>T) | dbSNP | |
| Y | g.640983C= | CA2467802680 | c.545-16C= (n.545-16C=) | ||
| Y | g.640983C>T | CA2467802681 | c.545-16C>T (n.545-16C>T) | dbSNP | |
| Y | g.640985C>A | CA2467802683 | c.545-14C>A (n.545-14C>A) | dbSNP | |
| Y | g.640985C= | CA2467802682 | c.545-14C= (n.545-14C=) | ||
| Y | g.640985C>T | CA2467802684 | c.545-14C>T (n.545-14C>T) | dbSNP | |
| Y | g.640986C= | CA2467802685 | c.545-13C= (n.545-13C=) | ||
| Y | g.640986C>T | CA2467802686 | c.545-13C>T (n.545-13C>T) | dbSNP | |
| Y | g.640987C= | CA2467802687 | c.545-12C= (n.545-12C=) | ||
| Y | g.640987C>T | CA2467802688 | c.545-12C>T (n.545-12C>T) | dbSNP | |
| Y | g.640989T>C | CA915952080 | c.545-10T>C (n.545-10T>C) | ClinVar dbSNP | |
| Y | g.640989T= | CA2467802689 | c.545-10T= (n.545-10T=) | ||
| Y | g.640995A= | CA2467802690 | c.545-4A= (n.545-4A=) | ||
| Y | g.640995A>T | CA2467802691 | c.545-4A>T (n.545-4A>T) | dbSNP | |
| Y | g.640996C= | CA2467802692 | c.545-3C= (n.545-3C=) | ||
| Y | g.640996C>T | CA2467802693 | c.545-3C>T (n.545-3C>T) | dbSNP | |
| Y | g.641000C= | CA2467802694 | c.546C= (p.Gly182=) | ||
| Y | g.641000C>G | CA2467802695 | c.546C>G (p.Gly182=) | dbSNP | |
| Y | g.641000C>T | CA2467802696 | c.546C>T (p.Gly182=) | dbSNP |