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.141973153_141973157del | CA2685283442 | MGAM,OR9A4,TAS2R38 | c.-3+27156_-3+27160del (n.-3+27156_-3+27160del) c.537_541del (p.Asn179LysfsTer7) c.*25-13243_*25-13239del (n.*25-13243_*25-13239del) | gnomAD v4 |
| 7 | g.141973152T>A | CA369564686 | MGAM,OR9A4,TAS2R38 | c.-3+27155T>A (n.-3+27155T>A) c.538A>T (p.Thr180Ser) c.*25-13244T>A (n.*25-13244T>A) | |
| 7 | g.141973152T>C | CA369564687 | MGAM,OR9A4,TAS2R38 | c.-3+27155T>C (n.-3+27155T>C) c.538A>G (p.Thr180Ala) c.*25-13244T>C (n.*25-13244T>C) | |
| 7 | g.141973152T>G | CA369564685 | MGAM,OR9A4,TAS2R38 | c.-3+27155T>G (n.-3+27155T>G) c.538A>C (p.Thr180Pro) c.*25-13244T>G (n.*25-13244T>G) | |
| 7 | g.141973153A>C | CA369564688 | MGAM,OR9A4,TAS2R38 | c.-3+27156A>C (n.-3+27156A>C) c.537T>G (p.Asn179Lys) c.*25-13243A>C (n.*25-13243A>C) | |
| 7 | g.141973153A>G | CA458161289 | MGAM,OR9A4,TAS2R38 | c.-3+27156A>G (n.-3+27156A>G) c.537T>C (p.Asn179=) c.*25-13243A>G (n.*25-13243A>G) | |
| 7 | g.141973153A>T | CA369564689 | MGAM,OR9A4,TAS2R38 | c.-3+27156A>T (n.-3+27156A>T) c.537T>A (p.Asn179Lys) c.*25-13243A>T (n.*25-13243A>T) | |
| 7 | g.141973154T>A | CA369564690 | MGAM,OR9A4,TAS2R38 | c.-3+27157T>A (n.-3+27157T>A) c.536A>T (p.Asn179Ile) c.*25-13242T>A (n.*25-13242T>A) | |
| 7 | g.141973154T>C | CA369564691 | MGAM,OR9A4,TAS2R38 | c.-3+27157T>C (n.-3+27157T>C) c.536A>G (p.Asn179Ser) c.*25-13242T>C (n.*25-13242T>C) | gnomAD v4 |
| 7 | g.141973154T>G | CA369564692 | MGAM,OR9A4,TAS2R38 | c.-3+27157T>G (n.-3+27157T>G) c.536A>C (p.Asn179Thr) c.*25-13242T>G (n.*25-13242T>G) | |
| 7 | g.141973155T>A | CA369564695 | MGAM,OR9A4,TAS2R38 | c.-3+27158T>A (n.-3+27158T>A) c.535A>T (p.Asn179Tyr) c.*25-13241T>A (n.*25-13241T>A) | gnomAD v4 |
| 7 | g.141973155T>C | CA369564693 | MGAM,OR9A4,TAS2R38 | c.-3+27158T>C (n.-3+27158T>C) c.535A>G (p.Asn179Asp) c.*25-13241T>C (n.*25-13241T>C) | |
| 7 | g.141973155T>G | CA369564694 | MGAM,OR9A4,TAS2R38 | c.-3+27158T>G (n.-3+27158T>G) c.535A>C (p.Asn179His) c.*25-13241T>G (n.*25-13241T>G) | |
| 7 | g.141973156G>A | CA4520193 | MGAM,OR9A4,TAS2R38 | c.-3+27159G>A (n.-3+27159G>A) c.534C>T (p.Asn178=) c.*25-13240G>A (n.*25-13240G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.141973156G>C | CA369564696 | MGAM,OR9A4,TAS2R38 | c.-3+27159G>C (n.-3+27159G>C) c.534C>G (p.Asn178Lys) c.*25-13240G>C (n.*25-13240G>C) | |
| 7 | g.141973156G= | CA1748244751 | MGAM,OR9A4,TAS2R38 | c.-3+27159G= (n.-3+27159G=) c.534C= (p.Asn178=) c.*25-13240G= (n.*25-13240G=) | |
| 7 | g.141973156G>T | CA369564697 | MGAM,OR9A4,TAS2R38 | c.-3+27159G>T (n.-3+27159G>T) c.534C>A (p.Asn178Lys) c.*25-13240G>T (n.*25-13240G>T) | gnomAD v4 |
| 7 | g.141973157T>A | CA369564698 | MGAM,OR9A4,TAS2R38 | c.-3+27160T>A (n.-3+27160T>A) c.533A>T (p.Asn178Ile) c.*25-13239T>A (n.*25-13239T>A) | |
| 7 | g.141973157T>C | CA369564699 | MGAM,OR9A4,TAS2R38 | c.-3+27160T>C (n.-3+27160T>C) c.533A>G (p.Asn178Ser) c.*25-13239T>C (n.*25-13239T>C) | |
| 7 | g.141973157T>G | CA369564700 | MGAM,OR9A4,TAS2R38 | c.-3+27160T>G (n.-3+27160T>G) c.533A>C (p.Asn178Thr) c.*25-13239T>G (n.*25-13239T>G) | |
| 7 | g.141973158T>A | CA369564702 | MGAM,OR9A4,TAS2R38 | c.-3+27161T>A (n.-3+27161T>A) c.532A>T (p.Asn178Tyr) c.*25-13238T>A (n.*25-13238T>A) | |
| 7 | g.141973158T>C | CA369564703 | MGAM,OR9A4,TAS2R38 | c.-3+27161T>C (n.-3+27161T>C) c.532A>G (p.Asn178Asp) c.*25-13238T>C (n.*25-13238T>C) | |
| 7 | g.141973158T>G | CA369564701 | MGAM,OR9A4,TAS2R38 | c.-3+27161T>G (n.-3+27161T>G) c.532A>C (p.Asn178His) c.*25-13238T>G (n.*25-13238T>G) | |
| 7 | g.141973159A= | CA1748244754 | MGAM,OR9A4,TAS2R38 | c.-3+27162A= (n.-3+27162A=) c.531T= (p.Asn177=) c.*25-13237A= (n.*25-13237A=) | |
| 7 | g.141973159A>C | CA369564704 | MGAM,OR9A4,TAS2R38 | c.-3+27162A>C (n.-3+27162A>C) c.531T>G (p.Asn177Lys) c.*25-13237A>C (n.*25-13237A>C) | |
| 7 | g.141973159A>G | CA4520194 | MGAM,OR9A4,TAS2R38 | c.-3+27162A>G (n.-3+27162A>G) c.531T>C (p.Asn177=) c.*25-13237A>G (n.*25-13237A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.141973159A>T | CA369564705 | MGAM,OR9A4,TAS2R38 | c.-3+27162A>T (n.-3+27162A>T) c.531T>A (p.Asn177Lys) c.*25-13237A>T (n.*25-13237A>T) | |
| 7 | g.141973160T>A | CA369564706 | MGAM,OR9A4,TAS2R38 | c.-3+27163T>A (n.-3+27163T>A) c.530A>T (p.Asn177Ile) c.*25-13236T>A (n.*25-13236T>A) | |
| 7 | g.141973160T>C | CA4520195 | MGAM,OR9A4,TAS2R38 | c.-3+27163T>C (n.-3+27163T>C) c.530A>G (p.Asn177Ser) c.*25-13236T>C (n.*25-13236T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.141973160T>G | CA369564707 | MGAM,OR9A4,TAS2R38 | c.-3+27163T>G (n.-3+27163T>G) c.530A>C (p.Asn177Thr) c.*25-13236T>G (n.*25-13236T>G) | |
| 7 | g.141973160T= | CA1748244757 | MGAM,OR9A4,TAS2R38 | c.-3+27163T= (n.-3+27163T=) c.530A= (p.Asn177=) c.*25-13236T= (n.*25-13236T=) | |
| 7 | g.141973161T>A | CA369564708 | MGAM,OR9A4,TAS2R38 | c.-3+27164T>A (n.-3+27164T>A) c.529A>T (p.Asn177Tyr) c.*25-13235T>A (n.*25-13235T>A) | dbSNP COSMIC |
| 7 | g.141973161T>C | CA369564709 | MGAM,OR9A4,TAS2R38 | c.-3+27164T>C (n.-3+27164T>C) c.529A>G (p.Asn177Asp) c.*25-13235T>C (n.*25-13235T>C) | |
| 7 | g.141973161T>G | CA369564710 | MGAM,OR9A4,TAS2R38 | c.-3+27164T>G (n.-3+27164T>G) c.529A>C (p.Asn177His) c.*25-13235T>G (n.*25-13235T>G) | |
| 7 | g.141973161T= | CA1748244761 | MGAM,OR9A4,TAS2R38 | c.-3+27164T= (n.-3+27164T=) c.529A= (p.Asn177=) c.*25-13235T= (n.*25-13235T=) | |
| 7 | g.141973162C>A | CA369564711 | MGAM,OR9A4,TAS2R38 | c.-3+27165C>A (n.-3+27165C>A) c.528G>T (p.Met176Ile) c.*25-13234C>A (n.*25-13234C>A) | |
| 7 | g.141973162C= | CA1748244764 | MGAM,OR9A4,TAS2R38 | c.-3+27165C= (n.-3+27165C=) c.528G= (p.Met176=) c.*25-13234C= (n.*25-13234C=) | |
| 7 | g.141973162C>G | CA369564712 | MGAM,OR9A4,TAS2R38 | c.-3+27165C>G (n.-3+27165C>G) c.528G>C (p.Met176Ile) c.*25-13234C>G (n.*25-13234C>G) | gnomAD v4 |
| 7 | g.141973162C>T | CA369564713 | MGAM,OR9A4,TAS2R38 | c.-3+27165C>T (n.-3+27165C>T) c.528G>A (p.Met176Ile) c.*25-13234C>T (n.*25-13234C>T) | dbSNP COSMIC |
| 7 | g.141973163A>C | CA369564714 | MGAM,OR9A4,TAS2R38 | c.-3+27166A>C (n.-3+27166A>C) c.527T>G (p.Met176Arg) c.*25-13233A>C (n.*25-13233A>C) | |
| 7 | g.141973163A>G | CA369564715 | MGAM,OR9A4,TAS2R38 | c.-3+27166A>G (n.-3+27166A>G) c.527T>C (p.Met176Thr) c.*25-13233A>G (n.*25-13233A>G) | |
| 7 | g.141973163A>T | CA369564716 | MGAM,OR9A4,TAS2R38 | c.-3+27166A>T (n.-3+27166A>T) c.527T>A (p.Met176Lys) c.*25-13233A>T (n.*25-13233A>T) | |
| 7 | g.141973164T>A | CA369564719 | MGAM,OR9A4,TAS2R38 | c.-3+27167T>A (n.-3+27167T>A) c.526A>T (p.Met176Leu) c.*25-13232T>A (n.*25-13232T>A) | |
| 7 | g.141973164T>C | CA369564717 | MGAM,OR9A4,TAS2R38 | c.-3+27167T>C (n.-3+27167T>C) c.526A>G (p.Met176Val) c.*25-13232T>C (n.*25-13232T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.141973164T>G | CA369564718 | MGAM,OR9A4,TAS2R38 | c.-3+27167T>G (n.-3+27167T>G) c.526A>C (p.Met176Leu) c.*25-13232T>G (n.*25-13232T>G) | |
| 7 | g.141973164T= | CA1748244767 | MGAM,OR9A4,TAS2R38 | c.-3+27167T= (n.-3+27167T=) c.526A= (p.Met176=) c.*25-13232T= (n.*25-13232T=) | |
| 7 | g.141973165G>A | CA458161300 | MGAM,OR9A4,TAS2R38 | c.-3+27168G>A (n.-3+27168G>A) c.525C>T (p.Phe175=) c.*25-13231G>A (n.*25-13231G>A) | gnomAD v4 |
| 7 | g.141973165G>C | CA369564720 | MGAM,OR9A4,TAS2R38 | c.-3+27168G>C (n.-3+27168G>C) c.525C>G (p.Phe175Leu) c.*25-13231G>C (n.*25-13231G>C) | |
| 7 | g.141973165G>T | CA369564721 | MGAM,OR9A4,TAS2R38 | c.-3+27168G>T (n.-3+27168G>T) c.525C>A (p.Phe175Leu) c.*25-13231G>T (n.*25-13231G>T) | |
| 7 | g.141973166A>C | CA369564722 | MGAM,OR9A4,TAS2R38 | c.-3+27169A>C (n.-3+27169A>C) c.524T>G (p.Phe175Cys) c.*25-13230A>C (n.*25-13230A>C) | gnomAD v4 |