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 |
|---|---|---|---|---|---|
| 7 | g.27095517A>C | CA454507877 | HOXA1 | c.396T>G (p.Ser132=) c.354+42T>G (n.354+42T>G) | |
| 7 | g.27095517A>G | CA454507878 | HOXA1 | c.396T>C (p.Ser132=) c.354+42T>C (n.354+42T>C) | |
| 7 | g.27095517A>T | CA454507879 | HOXA1 | c.396T>A (p.Ser132=) c.354+42T>A (n.354+42T>A) | |
| 7 | g.27095518G>A | CA367068661 | HOXA1 | c.395C>T (p.Ser132Phe) c.354+41C>T (n.354+41C>T) | gnomAD v4 |
| 7 | g.27095518G>C | CA367068662 | HOXA1 | c.395C>G (p.Ser132Cys) c.354+41C>G (n.354+41C>G) | |
| 7 | g.27095518G>T | CA367068663 | HOXA1 | c.395C>A (p.Ser132Tyr) c.354+41C>A (n.354+41C>A) | |
| 7 | g.27095519A>C | CA367068664 | HOXA1 | c.394T>G (p.Ser132Ala) c.354+40T>G (n.354+40T>G) | |
| 7 | g.27095519A>G | CA367068665 | HOXA1 | c.394T>C (p.Ser132Pro) c.354+40T>C (n.354+40T>C) | |
| 7 | g.27095519A>T | CA367068666 | HOXA1 | c.394T>A (p.Ser132Thr) c.354+40T>A (n.354+40T>A) | |
| 7 | g.27095520G>A | CA454507892 | HOXA1 | c.393C>T (p.Tyr131=) c.354+39C>T (n.354+39C>T) | dbSNP |
| 7 | g.27095520G>C | CA367068667 | HOXA1 | c.393C>G (p.Tyr131Ter) c.354+39C>G (n.354+39C>G) | |
| 7 | g.27095520G>T | CA367068668 | HOXA1 | c.393C>A (p.Tyr131Ter) c.354+39C>A (n.354+39C>A) | |
| 7 | g.27095521T>A | CA367068670 | HOXA1 | c.392A>T (p.Tyr131Phe) c.354+38A>T (n.354+38A>T) | |
| 7 | g.27095521T>C | CA367068671 | HOXA1 | c.392A>G (p.Tyr131Cys) c.354+38A>G (n.354+38A>G) | gnomAD v4 |
| 7 | g.27095521T>G | CA367068669 | HOXA1 | c.392A>C (p.Tyr131Ser) c.354+38A>C (n.354+38A>C) | |
| 7 | g.27095522A>C | CA367068672 | HOXA1 | c.391T>G (p.Tyr131Asp) c.354+37T>G (n.354+37T>G) | |
| 7 | g.27095522A>G | CA367068673 | HOXA1 | c.391T>C (p.Tyr131His) c.354+37T>C (n.354+37T>C) | |
| 7 | g.27095522A>T | CA367068674 | HOXA1 | c.391T>A (p.Tyr131Asn) c.354+37T>A (n.354+37T>A) | |
| 7 | g.27095523A>C | CA454507899 | HOXA1 | c.390T>G (p.Val130=) c.354+36T>G (n.354+36T>G) | |
| 7 | g.27095523A>G | CA454507900 | HOXA1 | c.390T>C (p.Val130=) c.354+36T>C (n.354+36T>C) | |
| 7 | g.27095523A>T | CA454507902 | HOXA1 | c.390T>A (p.Val130=) c.354+36T>A (n.354+36T>A) | |
| 7 | g.27095524A>C | CA367068675 | HOXA1 | c.389T>G (p.Val130Gly) c.354+35T>G (n.354+35T>G) | |
| 7 | g.27095524A>G | CA367068676 | HOXA1 | c.389T>C (p.Val130Ala) c.354+35T>C (n.354+35T>C) | |
| 7 | g.27095524A>T | CA367068677 | HOXA1 | c.389T>A (p.Val130Asp) c.354+35T>A (n.354+35T>A) | |
| 7 | g.27095525C>A | CA367068678 | HOXA1 | c.388G>T (p.Val130Phe) c.354+34G>T (n.354+34G>T) | |
| 7 | g.27095525C>G | CA367068679 | HOXA1 | c.388G>C (p.Val130Leu) c.354+34G>C (n.354+34G>C) | |
| 7 | g.27095525C>T | CA367068680 | HOXA1 | c.388G>A (p.Val130Ile) c.354+34G>A (n.354+34G>A) | |
| 7 | g.27095526A>C | CA454507906 | HOXA1 | c.387T>G (p.Ala129=) c.354+33T>G (n.354+33T>G) | |
| 7 | g.27095526A>G | CA454507907 | HOXA1 | c.387T>C (p.Ala129=) c.354+33T>C (n.354+33T>C) | |
| 7 | g.27095526A>T | CA454507908 | HOXA1 | c.387T>A (p.Ala129=) c.354+33T>A (n.354+33T>A) | |
| 7 | g.27095527G>A | CA367068681 | HOXA1 | c.386C>T (p.Ala129Val) c.354+32C>T (n.354+32C>T) | |
| 7 | g.27095527G>C | CA367068682 | HOXA1 | c.386C>G (p.Ala129Gly) c.354+32C>G (n.354+32C>G) | |
| 7 | g.27095527G>T | CA367068683 | HOXA1 | c.386C>A (p.Ala129Asp) c.354+32C>A (n.354+32C>A) | |
| 7 | g.27095528C>A | CA4195951 | HOXA1 | c.385G>T (p.Ala129Ser) c.354+31G>T (n.354+31G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.27095528C= | CA1696186968 | HOXA1 | c.385G= (p.Ala129=) c.354+31G= (n.354+31G=) | |
| 7 | g.27095528C>G | CA367068684 | HOXA1 | c.385G>C (p.Ala129Pro) c.354+31G>C (n.354+31G>C) | |
| 7 | g.27095528C>T | CA367068685 | HOXA1 | c.385G>A (p.Ala129Thr) c.354+31G>A (n.354+31G>A) | gnomAD v4 |
| 7 | g.27095529G>A | CA454507910 | HOXA1 | c.384C>T (p.Pro128=) c.354+30C>T (n.354+30C>T) | dbSNP gnomAD v4 |
| 7 | g.27095529G>C | CA454507911 | HOXA1 | c.384C>G (p.Pro128=) c.354+30C>G (n.354+30C>G) | |
| 7 | g.27095529G>T | CA454507912 | HOXA1 | c.384C>A (p.Pro128=) c.354+30C>A (n.354+30C>A) | |
| 7 | g.27095530G>A | CA367068686 | HOXA1 | c.383C>T (p.Pro128Leu) c.354+29C>T (n.354+29C>T) | |
| 7 | g.27095530G>C | CA367068687 | HOXA1 | c.383C>G (p.Pro128Arg) c.354+29C>G (n.354+29C>G) | |
| 7 | g.27095530G>T | CA367068688 | HOXA1 | c.383C>A (p.Pro128His) c.354+29C>A (n.354+29C>A) | |
| 7 | g.27095531G>A | CA367068689 | HOXA1 | c.382C>T (p.Pro128Ser) c.354+28C>T (n.354+28C>T) | |
| 7 | g.27095531G>C | CA367068690 | HOXA1 | c.382C>G (p.Pro128Ala) c.354+28C>G (n.354+28C>G) | |
| 7 | g.27095531G>T | CA367068691 | HOXA1 | c.382C>A (p.Pro128Thr) c.354+28C>A (n.354+28C>A) | |
| 7 | g.27095532A>C | CA454507916 | HOXA1 | c.381T>G (p.Ala127=) c.354+27T>G (n.354+27T>G) | |
| 7 | g.27095532A>G | CA454507917 | HOXA1 | c.381T>C (p.Ala127=) c.354+27T>C (n.354+27T>C) | |
| 7 | g.27095532A>T | CA454507918 | HOXA1 | c.381T>A (p.Ala127=) c.354+27T>A (n.354+27T>A) | |
| 7 | g.27095533G>A | CA367068692 | HOXA1 | c.380C>T (p.Ala127Val) c.354+26C>T (n.354+26C>T) | dbSNP gnomAD v3 gnomAD v4 |