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 |
|---|---|---|---|---|---|
| 2 | g.26458087G>A | CA346125129 | OTOF | c.*151C>T (n.*151C>T) c.3646C>T (p.Leu1216Phe) c.5947C>T (p.Leu1983Phe) c.5932C>T (p.Leu1978Phe) c.5992C>T (p.Leu1998Phe) | gnomAD v4 |
| 2 | g.26458087G>C | CA346125130 | OTOF | c.*151C>G (n.*151C>G) c.3646C>G (p.Leu1216Val) c.5947C>G (p.Leu1983Val) c.5932C>G (p.Leu1978Val) c.5992C>G (p.Leu1998Val) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.26458087G= | CA1239822152 | OTOF | c.*151C= (n.*151C=) c.3646C= (p.Leu1216=) c.5947C= (p.Leu1983=) c.5932C= (p.Leu1978=) c.5992C= (p.Leu1998=) | |
| 2 | g.26458087G>T | CA346125132 | OTOF | c.*151C>A (n.*151C>A) c.3646C>A (p.Leu1216Ile) c.5947C>A (p.Leu1983Ile) c.5932C>A (p.Leu1978Ile) c.5992C>A (p.Leu1998Ile) | |
| 2 | g.26458088G>A | CA2576699115 | OTOF | c.*150C>T (n.*150C>T) c.3645C>T (p.Phe1215=) c.5946C>T (p.Phe1982=) c.5931C>T (p.Phe1977=) c.5991C>T (p.Phe1997=) | |
| 2 | g.26458088G>C | CA346125135 | OTOF | c.*150C>G (n.*150C>G) c.3645C>G (p.Phe1215Leu) c.5946C>G (p.Phe1982Leu) c.5931C>G (p.Phe1977Leu) c.5991C>G (p.Phe1997Leu) | gnomAD v4 |
| 2 | g.26458088G>T | CA346125138 | OTOF | c.*150C>A (n.*150C>A) c.3645C>A (p.Phe1215Leu) c.5946C>A (p.Phe1982Leu) c.5931C>A (p.Phe1977Leu) c.5991C>A (p.Phe1997Leu) | |
| 2 | g.26458089A= | CA1239822156 | OTOF | c.*149T= (n.*149T=) c.3644T= (p.Phe1215=) c.5945T= (p.Phe1982=) c.5930T= (p.Phe1977=) c.5990T= (p.Phe1997=) | |
| 2 | g.26458089A>C | CA346125153 | OTOF | c.*149T>G (n.*149T>G) c.3644T>G (p.Phe1215Cys) c.5945T>G (p.Phe1982Cys) c.5930T>G (p.Phe1977Cys) c.5990T>G (p.Phe1997Cys) | gnomAD v4 |
| 2 | g.26458089A>G | CA346125151 | OTOF | c.*149T>C (n.*149T>C) c.3644T>C (p.Phe1215Ser) c.5945T>C (p.Phe1982Ser) c.5930T>C (p.Phe1977Ser) c.5990T>C (p.Phe1997Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26458089A>T | CA346125149 | OTOF | c.*149T>A (n.*149T>A) c.3644T>A (p.Phe1215Tyr) c.5945T>A (p.Phe1982Tyr) c.5930T>A (p.Phe1977Tyr) c.5990T>A (p.Phe1997Tyr) | |
| 2 | g.26458090A>C | CA346125155 | OTOF | c.*148T>G (n.*148T>G) c.3643T>G (p.Phe1215Val) c.5944T>G (p.Phe1982Val) c.5929T>G (p.Phe1977Val) c.5989T>G (p.Phe1997Val) | |
| 2 | g.26458090A>G | CA346125157 | OTOF | c.*148T>C (n.*148T>C) c.3643T>C (p.Phe1215Leu) c.5944T>C (p.Phe1982Leu) c.5929T>C (p.Phe1977Leu) c.5989T>C (p.Phe1997Leu) | |
| 2 | g.26458090A>T | CA346125160 | OTOF | c.*148T>A (n.*148T>A) c.3643T>A (p.Phe1215Ile) c.5944T>A (p.Phe1982Ile) c.5929T>A (p.Phe1977Ile) c.5989T>A (p.Phe1997Ile) | |
| 2 | g.26458091G>A | CA44405116 | OTOF | c.*147C>T (n.*147C>T) c.3642C>T (p.Leu1214=) c.5943C>T (p.Leu1981=) c.5928C>T (p.Leu1976=) c.5988C>T (p.Leu1996=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26458091G>C | CA2658232245 | OTOF | c.*147C>G (n.*147C>G) c.3642C>G (p.Leu1214=) c.5943C>G (p.Leu1981=) c.5928C>G (p.Leu1976=) c.5988C>G (p.Leu1996=) | gnomAD v4 |
| 2 | g.26458091G= | CA1239822158 | OTOF | c.*147C= (n.*147C=) c.3642C= (p.Leu1214=) c.5943C= (p.Leu1981=) c.5928C= (p.Leu1976=) c.5988C= (p.Leu1996=) | |
| 2 | g.26458092A>C | CA346125165 | OTOF | c.*146T>G (n.*146T>G) c.3641T>G (p.Leu1214Arg) c.5942T>G (p.Leu1981Arg) c.5927T>G (p.Leu1976Arg) c.5987T>G (p.Leu1996Arg) | |
| 2 | g.26458092A>G | CA346125166 | OTOF | c.*146T>C (n.*146T>C) c.3641T>C (p.Leu1214Pro) c.5942T>C (p.Leu1981Pro) c.5927T>C (p.Leu1976Pro) c.5987T>C (p.Leu1996Pro) | gnomAD v4 |
| 2 | g.26458092A>T | CA346125167 | OTOF | c.*146T>A (n.*146T>A) c.3641T>A (p.Leu1214His) c.5942T>A (p.Leu1981His) c.5927T>A (p.Leu1976His) c.5987T>A (p.Leu1996His) | |
| 2 | g.26458102_26458116dup | CA2658232246 | OTOF | c.*132_*146dup (n.*132_*146dup) c.3627_3641dup (p.Leu1214_Phe1215insLeuMetLeuGlyLeu) c.5928_5942dup (p.Leu1981_Phe1982insLeuMetLeuGlyLeu) c.5913_5927dup (p.Leu1976_Phe1977insLeuMetLeuGlyLeu) c.5973_5987dup (p.Leu1996_Phe1997insLeuMetLeuGlyLeu) | gnomAD v4 |
| 2 | g.26458093G>A | CA346125168 | OTOF | c.*145C>T (n.*145C>T) c.3640C>T (p.Leu1214Phe) c.5941C>T (p.Leu1981Phe) c.5926C>T (p.Leu1976Phe) c.5986C>T (p.Leu1996Phe) | dbSNP gnomAD v2 |
| 2 | g.26458093G>C | CA346125169 | OTOF | c.*145C>G (n.*145C>G) c.3640C>G (p.Leu1214Val) c.5941C>G (p.Leu1981Val) c.5926C>G (p.Leu1976Val) c.5986C>G (p.Leu1996Val) | |
| 2 | g.26458093G= | CA1239822161 | OTOF | c.*145C= (n.*145C=) c.3640C= (p.Leu1214=) c.5941C= (p.Leu1981=) c.5926C= (p.Leu1976=) c.5986C= (p.Leu1996=) | |
| 2 | g.26458093G>T | CA346125170 | OTOF | c.*145C>A (n.*145C>A) c.3640C>A (p.Leu1214Ile) c.5941C>A (p.Leu1981Ile) c.5926C>A (p.Leu1976Ile) c.5986C>A (p.Leu1996Ile) | dbSNP gnomAD v4 |
| 2 | g.26458094C>A | CA1028603159 | OTOF | c.*144G>T (n.*144G>T) c.3639G>T (p.Gly1213=) c.5940G>T (p.Gly1980=) c.5925G>T (p.Gly1975=) c.5985G>T (p.Gly1995=) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.26458094C= | CA1239822165 | OTOF | c.*144G= (n.*144G=) c.3639G= (p.Gly1213=) c.5940G= (p.Gly1980=) c.5925G= (p.Gly1975=) c.5985G= (p.Gly1995=) | |
| 2 | g.26458094C>G | CA2739799960 | OTOF | c.*144G>C (n.*144G>C) c.3639G>C (p.Gly1213=) c.5940G>C (p.Gly1980=) c.5925G>C (p.Gly1975=) c.5985G>C (p.Gly1995=) | |
| 2 | g.26458094C>T | CA2739799961 | OTOF | c.*144G>A (n.*144G>A) c.3639G>A (p.Gly1213=) c.5940G>A (p.Gly1980=) c.5925G>A (p.Gly1975=) c.5985G>A (p.Gly1995=) | |
| 2 | g.26458095C>A | CA346125174 | OTOF | c.*143G>T (n.*143G>T) c.3638G>T (p.Gly1213Val) c.5939G>T (p.Gly1980Val) c.5924G>T (p.Gly1975Val) c.5984G>T (p.Gly1995Val) | |
| 2 | g.26458095C>G | CA346125177 | OTOF | c.*143G>C (n.*143G>C) c.3638G>C (p.Gly1213Ala) c.5939G>C (p.Gly1980Ala) c.5924G>C (p.Gly1975Ala) c.5984G>C (p.Gly1995Ala) | |
| 2 | g.26458095C>T | CA346125189 | OTOF | c.*143G>A (n.*143G>A) c.3638G>A (p.Gly1213Glu) c.5939G>A (p.Gly1980Glu) c.5924G>A (p.Gly1975Glu) c.5984G>A (p.Gly1995Glu) | |
| 2 | g.26458096C>A | CA346125194 | OTOF | c.*142G>T (n.*142G>T) c.3637G>T (p.Gly1213Trp) c.5938G>T (p.Gly1980Trp) c.5923G>T (p.Gly1975Trp) c.5983G>T (p.Gly1995Trp) | |
| 2 | g.26458096C>G | CA346125193 | OTOF | c.*142G>C (n.*142G>C) c.3637G>C (p.Gly1213Arg) c.5938G>C (p.Gly1980Arg) c.5923G>C (p.Gly1975Arg) c.5983G>C (p.Gly1995Arg) | |
| 2 | g.26458096C>T | CA346125192 | OTOF | c.*142G>A (n.*142G>A) c.3637G>A (p.Gly1213Arg) c.5938G>A (p.Gly1980Arg) c.5923G>A (p.Gly1975Arg) c.5983G>A (p.Gly1995Arg) | |
| 2 | g.26458097C>A | CA346125196 | OTOF | c.*141G>T (n.*141G>T) c.3636G>T (p.Leu1212Phe) c.5937G>T (p.Leu1979Phe) c.5922G>T (p.Leu1974Phe) c.5982G>T (p.Leu1994Phe) | |
| 2 | g.26458097C>G | CA346125203 | OTOF | c.*141G>C (n.*141G>C) c.3636G>C (p.Leu1212Phe) c.5937G>C (p.Leu1979Phe) c.5922G>C (p.Leu1974Phe) c.5982G>C (p.Leu1994Phe) | |
| 2 | g.26458098A= | CA1239822167 | OTOF | c.*140T= (n.*140T=) c.3635T= (p.Leu1212=) c.5936T= (p.Leu1979=) c.5921T= (p.Leu1974=) c.5981T= (p.Leu1994=) | |
| 2 | g.26458098A>C | CA346125205 | OTOF | c.*140T>G (n.*140T>G) c.3635T>G (p.Leu1212Trp) c.5936T>G (p.Leu1979Trp) c.5921T>G (p.Leu1974Trp) c.5981T>G (p.Leu1994Trp) | |
| 2 | g.26458098A>G | CA346125208 | OTOF | c.*140T>C (n.*140T>C) c.3635T>C (p.Leu1212Ser) c.5936T>C (p.Leu1979Ser) c.5921T>C (p.Leu1974Ser) c.5981T>C (p.Leu1994Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.26458098A>T | CA346125212 | OTOF | c.*140T>A (n.*140T>A) c.3635T>A (p.Leu1212Ter) c.5936T>A (p.Leu1979Ter) c.5921T>A (p.Leu1974Ter) c.5981T>A (p.Leu1994Ter) | |
| 2 | g.26458099A>C | CA346125216 | OTOF | c.*139T>G (n.*139T>G) c.3634T>G (p.Leu1212Val) c.5935T>G (p.Leu1979Val) c.5920T>G (p.Leu1974Val) c.5980T>G (p.Leu1994Val) | |
| 2 | g.26458099A>G | CA2576699116 | OTOF | c.*139T>C (n.*139T>C) c.3634T>C (p.Leu1212=) c.5935T>C (p.Leu1979=) c.5920T>C (p.Leu1974=) c.5980T>C (p.Leu1994=) | |
| 2 | g.26458099A>T | CA346125219 | OTOF | c.*139T>A (n.*139T>A) c.3634T>A (p.Leu1212Met) c.5935T>A (p.Leu1979Met) c.5920T>A (p.Leu1974Met) c.5980T>A (p.Leu1994Met) | |
| 2 | g.26458100C>A | CA346125222 | OTOF | c.*138G>T (n.*138G>T) c.3633G>T (p.Met1211Ile) c.5934G>T (p.Met1978Ile) c.5919G>T (p.Met1973Ile) c.5979G>T (p.Met1993Ile) | gnomAD v4 |
| 2 | g.26458100C= | CA1239822173 | OTOF | c.*138G= (n.*138G=) c.3633G= (p.Met1211=) c.5934G= (p.Met1978=) c.5919G= (p.Met1973=) c.5979G= (p.Met1993=) | |
| 2 | g.26458100C>G | CA44405117 | OTOF | c.*138G>C (n.*138G>C) c.3633G>C (p.Met1211Ile) c.5934G>C (p.Met1978Ile) c.5919G>C (p.Met1973Ile) c.5979G>C (p.Met1993Ile) | dbSNP |
| 2 | g.26458100C>T | CA346125226 | OTOF | c.*138G>A (n.*138G>A) c.3633G>A (p.Met1211Ile) c.5934G>A (p.Met1978Ile) c.5919G>A (p.Met1973Ile) c.5979G>A (p.Met1993Ile) | gnomAD v4 |
| 2 | g.26458101A= | CA1239822176 | OTOF | c.*137T= (n.*137T=) c.3632T= (p.Met1211=) c.5933T= (p.Met1978=) c.5918T= (p.Met1973=) c.5978T= (p.Met1993=) | |
| 2 | g.26458101A>C | CA346125230 | OTOF | c.*137T>G (n.*137T>G) c.3632T>G (p.Met1211Arg) c.5933T>G (p.Met1978Arg) c.5918T>G (p.Met1973Arg) c.5978T>G (p.Met1993Arg) |