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 |
|---|---|---|---|---|---|
| 1 | g.99864392_99864394del | CA2646735932 | AGL | c.467_469del (p.Asn156del) n.678_680del c.419_421del (p.Asn140del) c.416_418del (p.Asn139del) | gnomAD v4 |
| 1 | g.99864392A= | CA1143685307 | AGL | c.467A= (p.Asn156=) n.678A= c.419A= (p.Asn140=) c.416A= (p.Asn139=) | |
| 1 | g.99864392A>C | CA341334559 | AGL | c.467A>C (p.Asn156Thr) n.678A>C c.419A>C (p.Asn140Thr) c.416A>C (p.Asn139Thr) | |
| 1 | g.99864392A>G | CA966198 | AGL | c.467A>G (p.Asn156Ser) n.678A>G c.419A>G (p.Asn140Ser) c.416A>G (p.Asn139Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.99864392A>T | CA341334565 | AGL | c.467A>T (p.Asn156Ile) n.678A>T c.419A>T (p.Asn140Ile) c.416A>T (p.Asn139Ile) | |
| 1 | g.99864393C>A | CA341334579 | AGL | c.468C>A (p.Asn156Lys) n.679C>A c.420C>A (p.Asn140Lys) c.417C>A (p.Asn139Lys) | |
| 1 | g.99864393C>G | CA341334584 | AGL | c.468C>G (p.Asn156Lys) n.679C>G c.420C>G (p.Asn140Lys) c.417C>G (p.Asn139Lys) | gnomAD v4 |
| 1 | g.99864393C>T | CA419095993 | AGL | c.468C>T (p.Asn156=) n.679C>T c.420C>T (p.Asn140=) c.417C>T (p.Asn139=) | gnomAD v4 |
| 1 | g.99864394A= | CA1183926395 | AGL | c.469A= (p.Met157=) n.680A= c.421A= (p.Met141=) c.418A= (p.Met140=) | |
| 1 | g.99864394A>C | CA341334604 | AGL | c.469A>C (p.Met157Leu) n.680A>C c.421A>C (p.Met141Leu) c.418A>C (p.Met140Leu) | |
| 1 | g.99864394A>G | CA341334599 | AGL | c.469A>G (p.Met157Val) n.680A>G c.421A>G (p.Met141Val) c.418A>G (p.Met140Val) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.99864394A>T | CA341334595 | AGL | c.469A>T (p.Met157Leu) n.680A>T c.421A>T (p.Met141Leu) c.418A>T (p.Met140Leu) | |
| 1 | g.99864395T>A | CA341334614 | AGL | c.470T>A (p.Met157Lys) n.681T>A c.422T>A (p.Met141Lys) c.419T>A (p.Met140Lys) | |
| 1 | g.99864395T>C | CA341334619 | AGL | c.470T>C (p.Met157Thr) n.681T>C c.422T>C (p.Met141Thr) c.419T>C (p.Met140Thr) | |
| 1 | g.99864395T>G | CA341334630 | AGL | c.470T>G (p.Met157Arg) n.681T>G c.422T>G (p.Met141Arg) c.419T>G (p.Met140Arg) | |
| 1 | g.99864395_99864396delinsTG | CA1183926399 | AGL | c.470_471delinsTG (p.Met157=) n.681_682delinsTG c.422_423delinsTG (p.Met141=) c.419_420delinsTG (p.Met140=) | |
| 1 | g.99864396del | CA1004944102 | AGL | c.471del (p.Met157IlefsTer23) n.682del c.423del (p.Met141IlefsTer23) c.420del (p.Met140IlefsTer23) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.99864396G>A | CA341334643 | AGL | c.471G>A (p.Met157Ile) n.682G>A c.423G>A (p.Met141Ile) c.420G>A (p.Met140Ile) | gnomAD v4 |
| 1 | g.99864396G>C | CA341334652 | AGL | c.471G>C (p.Met157Ile) n.682G>C c.423G>C (p.Met141Ile) c.420G>C (p.Met140Ile) | |
| 1 | g.99864396G>T | CA341334656 | AGL | c.471G>T (p.Met157Ile) n.682G>T c.423G>T (p.Met141Ile) c.420G>T (p.Met140Ile) | |
| 1 | g.99864397A>C | CA341334660 | AGL | c.472A>C (p.Ile158Leu) n.683A>C c.424A>C (p.Ile142Leu) c.421A>C (p.Ile141Leu) | |
| 1 | g.99864397A>G | CA341334661 | AGL | c.472A>G (p.Ile158Val) n.683A>G c.424A>G (p.Ile142Val) c.421A>G (p.Ile141Val) | |
| 1 | g.99864397A>T | CA341334663 | AGL | c.472A>T (p.Ile158Phe) n.683A>T c.424A>T (p.Ile142Phe) c.421A>T (p.Ile141Phe) | |
| 1 | g.99864398T>A | CA341334679 | AGL | c.473T>A (p.Ile158Asn) n.684T>A c.425T>A (p.Ile142Asn) c.422T>A (p.Ile141Asn) | |
| 1 | g.99864398T>C | CA341334682 | AGL | c.473T>C (p.Ile158Thr) n.684T>C c.425T>C (p.Ile142Thr) c.422T>C (p.Ile141Thr) | |
| 1 | g.99864398T>G | CA341334687 | AGL | c.473T>G (p.Ile158Ser) n.684T>G c.425T>G (p.Ile142Ser) c.422T>G (p.Ile141Ser) | |
| 1 | g.99864399T>A | CA419096004 | AGL | c.474T>A (p.Ile158=) n.685T>A c.426T>A (p.Ile142=) c.423T>A (p.Ile141=) | |
| 1 | g.99864399T>C | CA419096005 | AGL | c.474T>C (p.Ile158=) n.685T>C c.426T>C (p.Ile142=) c.423T>C (p.Ile141=) | |
| 1 | g.99864399T>G | CA341334690 | AGL | c.474T>G (p.Ile158Met) n.685T>G c.426T>G (p.Ile142Met) c.423T>G (p.Ile141Met) | |
| 1 | g.99864400C>A | CA341334725 | AGL | c.475C>A (p.His159Asn) n.686C>A c.427C>A (p.His143Asn) c.424C>A (p.His142Asn) | |
| 1 | g.99864400C>G | CA341334707 | AGL | c.475C>G (p.His159Asp) n.686C>G c.427C>G (p.His143Asp) c.424C>G (p.His142Asp) | |
| 1 | g.99864400C>T | CA341334696 | AGL | c.475C>T (p.His159Tyr) n.686C>T c.427C>T (p.His143Tyr) c.424C>T (p.His142Tyr) | |
| 1 | g.99864401del | CA2586967071 | AGL | c.476del (p.His159LeufsTer21) n.687del c.428del (p.His143LeufsTer21) c.425del (p.His142LeufsTer21) | |
| 1 | g.99864401A>C | CA341334736 | AGL | c.476A>C (p.His159Pro) n.687A>C c.428A>C (p.His143Pro) c.425A>C (p.His142Pro) | |
| 1 | g.99864401A>G | CA341334753 | AGL | c.476A>G (p.His159Arg) n.687A>G c.428A>G (p.His143Arg) c.425A>G (p.His142Arg) | ClinVar dbSNP gnomAD v4 |
| 1 | g.99864401A>T | CA341334759 | AGL | c.476A>T (p.His159Leu) n.687A>T c.428A>T (p.His143Leu) c.425A>T (p.His142Leu) | |
| 1 | g.99864402T>A | CA341334769 | AGL | c.477T>A (p.His159Gln) n.688T>A c.429T>A (p.His143Gln) c.426T>A (p.His142Gln) | |
| 1 | g.99864402T>C | CA419096008 | AGL | c.477T>C (p.His159=) n.688T>C c.429T>C (p.His143=) c.426T>C (p.His142=) | |
| 1 | g.99864402T>G | CA966199 | AGL | c.477T>G (p.His159Gln) n.688T>G c.429T>G (p.His143Gln) c.426T>G (p.His142Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.99864402T= | CA1183926403 | AGL | c.477T= (p.His159=) n.688T= c.429T= (p.His143=) c.426T= (p.His142=) | |
| 1 | g.99864403T>A | CA341334775 | AGL | c.478T>A (p.Phe160Ile) n.689T>A c.430T>A (p.Phe144Ile) c.427T>A (p.Phe143Ile) | |
| 1 | g.99864403T>C | CA341334788 | AGL | c.478T>C (p.Phe160Leu) n.689T>C c.430T>C (p.Phe144Leu) c.427T>C (p.Phe143Leu) | |
| 1 | g.99864403T>G | CA341334794 | AGL | c.478T>G (p.Phe160Val) n.689T>G c.430T>G (p.Phe144Val) c.427T>G (p.Phe143Val) | |
| 1 | g.99864404T>A | CA341334796 | AGL | c.479T>A (p.Phe160Tyr) n.690T>A c.431T>A (p.Phe144Tyr) c.428T>A (p.Phe143Tyr) | |
| 1 | g.99864404T>C | CA341334798 | AGL | c.479T>C (p.Phe160Ser) n.690T>C c.431T>C (p.Phe144Ser) c.428T>C (p.Phe143Ser) | |
| 1 | g.99864404T>G | CA341334802 | AGL | c.479T>G (p.Phe160Cys) n.690T>G c.431T>G (p.Phe144Cys) c.428T>G (p.Phe143Cys) | |
| 1 | g.99864405T>A | CA341334807 | AGL | c.480T>A (p.Phe160Leu) n.691T>A c.432T>A (p.Phe144Leu) c.429T>A (p.Phe143Leu) | |
| 1 | g.99864405T>C | CA419096013 | AGL | c.480T>C (p.Phe160=) n.691T>C c.432T>C (p.Phe144=) c.429T>C (p.Phe143=) | ClinVar gnomAD v4 |
| 1 | g.99864405T>G | CA341334808 | AGL | c.480T>G (p.Phe160Leu) n.691T>G c.432T>G (p.Phe144Leu) c.429T>G (p.Phe143Leu) | |
| 1 | g.99864406A>C | CA341334826 | AGL | c.481A>C (p.Thr161Pro) n.692A>C c.433A>C (p.Thr145Pro) c.430A>C (p.Thr144Pro) |