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.26477420T>A | CA1563935 | OTOF | c.2402A>T (p.Glu801Val) c.161A>T (p.Glu54Val) c.332A>T (p.Glu111Val) c.2447A>T (p.Glu816Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26477420T>C | CA346122955 | OTOF | c.2402A>G (p.Glu801Gly) c.161A>G (p.Glu54Gly) c.332A>G (p.Glu111Gly) c.2447A>G (p.Glu816Gly) | |
| 2 | g.26477420T>G | CA346122959 | OTOF | c.2402A>C (p.Glu801Ala) c.161A>C (p.Glu54Ala) c.332A>C (p.Glu111Ala) c.2447A>C (p.Glu816Ala) | |
| 2 | g.26477420T= | CA1239830048 | OTOF | c.2402A= (p.Glu801=) c.161A= (p.Glu54=) c.332A= (p.Glu111=) c.2447A= (p.Glu816=) | |
| 2 | g.26477420_26477421delinsAA | CA142800 | OTOF | c.2401_2402delinsTT (p.Glu801Leu) c.160_161delinsTT (p.Glu54Leu) c.331_332delinsTT (p.Glu111Leu) c.2446_2447delinsTT (p.Glu816Leu) | ClinVar dbSNP |
| 2 | g.26477420_26477421delinsTC | CA1239830050 | OTOF | c.2401_2402delinsGA (p.Glu801=) c.160_161delinsGA (p.Glu54=) c.331_332delinsGA (p.Glu111=) c.2446_2447delinsGA (p.Glu816=) | |
| 2 | g.26477421C>A | CA1563936 | OTOF | c.2401G>T (p.Glu801Ter) c.160G>T (p.Glu54Ter) c.331G>T (p.Glu111Ter) c.2446G>T (p.Glu816Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26477421C= | CA1239830055 | OTOF | c.2401G= (p.Glu801=) c.160G= (p.Glu54=) c.331G= (p.Glu111=) c.2446G= (p.Glu816=) | |
| 2 | g.26477421C>G | CA346122971 | OTOF | c.2401G>C (p.Glu801Gln) c.160G>C (p.Glu54Gln) c.331G>C (p.Glu111Gln) c.2446G>C (p.Glu816Gln) | |
| 2 | g.26477421C>T | CA346122973 | OTOF | c.2401G>A (p.Glu801Lys) c.160G>A (p.Glu54Lys) c.331G>A (p.Glu111Lys) c.2446G>A (p.Glu816Lys) | |
| 2 | g.26477422C>A | CA346122977 | OTOF | c.2400G>T (p.Arg800Ser) c.159G>T (p.Arg53Ser) c.330G>T (p.Arg110Ser) c.2445G>T (p.Arg815Ser) | |
| 2 | g.26477422C= | CA1239830059 | OTOF | c.2400G= (p.Arg800=) c.159G= (p.Arg53=) c.330G= (p.Arg110=) c.2445G= (p.Arg815=) | |
| 2 | g.26477422C>G | CA346122979 | OTOF | c.2400G>C (p.Arg800Ser) c.159G>C (p.Arg53Ser) c.330G>C (p.Arg110Ser) c.2445G>C (p.Arg815Ser) | gnomAD v4 |
| 2 | g.26477422C>T | CA425360033 | OTOF | c.2400G>A (p.Arg800=) c.159G>A (p.Arg53=) c.330G>A (p.Arg110=) c.2445G>A (p.Arg815=) | dbSNP |
| 2 | g.26477423C>A | CA346122982 | OTOF | c.2399G>T (p.Arg800Met) c.158G>T (p.Arg53Met) c.329G>T (p.Arg110Met) c.2444G>T (p.Arg815Met) | gnomAD v4 |
| 2 | g.26477423C= | CA1239830062 | OTOF | c.2399G= (p.Arg800=) c.158G= (p.Arg53=) c.329G= (p.Arg110=) c.2444G= (p.Arg815=) | |
| 2 | g.26477423C>G | CA346122984 | OTOF | c.2399G>C (p.Arg800Thr) c.158G>C (p.Arg53Thr) c.329G>C (p.Arg110Thr) c.2444G>C (p.Arg815Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.26477423C>T | CA346122985 | OTOF | c.2399G>A (p.Arg800Lys) c.158G>A (p.Arg53Lys) c.329G>A (p.Arg110Lys) c.2444G>A (p.Arg815Lys) | |
| 2 | g.26477424T>A | CA346122988 | OTOF | c.2398A>T (p.Arg800Trp) c.157A>T (p.Arg53Trp) c.328A>T (p.Arg110Trp) c.2443A>T (p.Arg815Trp) | |
| 2 | g.26477424T>C | CA346122989 | OTOF | c.2398A>G (p.Arg800Gly) c.157A>G (p.Arg53Gly) c.328A>G (p.Arg110Gly) c.2443A>G (p.Arg815Gly) | gnomAD v4 |
| 2 | g.26477424T>G | CA425360036 | OTOF | c.2398A>C (p.Arg800=) c.157A>C (p.Arg53=) c.328A>C (p.Arg110=) c.2443A>C (p.Arg815=) | |
| 2 | g.26477425C>A | CA346122991 | OTOF | c.2397G>T (p.Met799Ile) c.156G>T (p.Met52Ile) c.327G>T (p.Met109Ile) c.2442G>T (p.Met814Ile) | gnomAD v4 |
| 2 | g.26477425C>G | CA346122993 | OTOF | c.2397G>C (p.Met799Ile) c.156G>C (p.Met52Ile) c.327G>C (p.Met109Ile) c.2442G>C (p.Met814Ile) | |
| 2 | g.26477425C>T | CA346122995 | OTOF | c.2397G>A (p.Met799Ile) c.156G>A (p.Met52Ile) c.327G>A (p.Met109Ile) c.2442G>A (p.Met814Ile) | |
| 2 | g.26477426A>C | CA346122997 | OTOF | c.2396T>G (p.Met799Arg) c.155T>G (p.Met52Arg) c.326T>G (p.Met109Arg) c.2441T>G (p.Met814Arg) | |
| 2 | g.26477426A>G | CA346122998 | OTOF | c.2396T>C (p.Met799Thr) c.155T>C (p.Met52Thr) c.326T>C (p.Met109Thr) c.2441T>C (p.Met814Thr) | |
| 2 | g.26477426A>T | CA346122999 | OTOF | c.2396T>A (p.Met799Lys) c.155T>A (p.Met52Lys) c.326T>A (p.Met109Lys) c.2441T>A (p.Met814Lys) | gnomAD v4 |
| 2 | g.26477427T>A | CA346123003 | OTOF | c.2395A>T (p.Met799Leu) c.154A>T (p.Met52Leu) c.325A>T (p.Met109Leu) c.2440A>T (p.Met814Leu) | |
| 2 | g.26477427T>C | CA346123006 | OTOF | c.2395A>G (p.Met799Val) c.154A>G (p.Met52Val) c.325A>G (p.Met109Val) c.2440A>G (p.Met814Val) | gnomAD v4 |
| 2 | g.26477427T>G | CA346123010 | OTOF | c.2395A>C (p.Met799Leu) c.154A>C (p.Met52Leu) c.325A>C (p.Met109Leu) c.2440A>C (p.Met814Leu) | |
| 2 | g.26477428G>A | CA425360043 | OTOF | c.2394C>T (p.Cys798=) c.153C>T (p.Cys51=) c.324C>T (p.Cys108=) c.2439C>T (p.Cys813=) | gnomAD v4 |
| 2 | g.26477428G>C | CA346123024 | OTOF | c.2394C>G (p.Cys798Trp) c.153C>G (p.Cys51Trp) c.324C>G (p.Cys108Trp) c.2439C>G (p.Cys813Trp) | |
| 2 | g.26477428G>T | CA346123028 | OTOF | c.2394C>A (p.Cys798Ter) c.153C>A (p.Cys51Ter) c.324C>A (p.Cys108Ter) c.2439C>A (p.Cys813Ter) | gnomAD v4 COSMIC COSMIC COSMIC |
| 2 | g.26477429C>A | CA1563937 | OTOF | c.2393G>T (p.Cys798Phe) c.152G>T (p.Cys51Phe) c.323G>T (p.Cys108Phe) c.2438G>T (p.Cys813Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.26477429C= | CA1239830065 | OTOF | c.2393G= (p.Cys798=) c.152G= (p.Cys51=) c.323G= (p.Cys108=) c.2438G= (p.Cys813=) | |
| 2 | g.26477429C>G | CA346123039 | OTOF | c.2393G>C (p.Cys798Ser) c.152G>C (p.Cys51Ser) c.323G>C (p.Cys108Ser) c.2438G>C (p.Cys813Ser) | |
| 2 | g.26477429C>T | CA346123040 | OTOF | c.2393G>A (p.Cys798Tyr) c.152G>A (p.Cys51Tyr) c.323G>A (p.Cys108Tyr) c.2438G>A (p.Cys813Tyr) | gnomAD v4 |
| 2 | g.26477430A= | CA1239830067 | OTOF | c.2392T= (p.Cys798=) c.151T= (p.Cys51=) c.322T= (p.Cys108=) c.2437T= (p.Cys813=) | |
| 2 | g.26477430A>C | CA346123041 | OTOF | c.2392T>G (p.Cys798Gly) c.151T>G (p.Cys51Gly) c.322T>G (p.Cys108Gly) c.2437T>G (p.Cys813Gly) | |
| 2 | g.26477430A>G | CA44398468 | OTOF | c.2392T>C (p.Cys798Arg) c.151T>C (p.Cys51Arg) c.322T>C (p.Cys108Arg) c.2437T>C (p.Cys813Arg) | ClinVar dbSNP gnomAD v4 |
| 2 | g.26477430A>T | CA346123051 | OTOF | c.2392T>A (p.Cys798Ser) c.151T>A (p.Cys51Ser) c.322T>A (p.Cys108Ser) c.2437T>A (p.Cys813Ser) | gnomAD v4 |
| 2 | g.26477431G>A | CA425360048 | OTOF | c.2391C>T (p.Ser797=) c.150C>T (p.Ser50=) c.321C>T (p.Ser107=) c.2436C>T (p.Ser812=) | gnomAD v4 |
| 2 | g.26477431G>C | CA425360050 | OTOF | c.2391C>G (p.Ser797=) c.150C>G (p.Ser50=) c.321C>G (p.Ser107=) c.2436C>G (p.Ser812=) | |
| 2 | g.26477431G>T | CA425360052 | OTOF | c.2391C>A (p.Ser797=) c.150C>A (p.Ser50=) c.321C>A (p.Ser107=) c.2436C>A (p.Ser812=) | gnomAD v4 |
| 2 | g.26477432G>A | CA346123063 | OTOF | c.2390C>T (p.Ser797Phe) c.149C>T (p.Ser50Phe) c.320C>T (p.Ser107Phe) c.2435C>T (p.Ser812Phe) | |
| 2 | g.26477432G>C | CA346123066 | OTOF | c.2390C>G (p.Ser797Cys) c.149C>G (p.Ser50Cys) c.320C>G (p.Ser107Cys) c.2435C>G (p.Ser812Cys) | |
| 2 | g.26477432G>T | CA346123069 | OTOF | c.2390C>A (p.Ser797Tyr) c.149C>A (p.Ser50Tyr) c.320C>A (p.Ser107Tyr) c.2435C>A (p.Ser812Tyr) | |
| 2 | g.26477433A>C | CA346123073 | OTOF | c.2389T>G (p.Ser797Ala) c.148T>G (p.Ser50Ala) c.319T>G (p.Ser107Ala) c.2434T>G (p.Ser812Ala) | |
| 2 | g.26477433A>G | CA346123074 | OTOF | c.2389T>C (p.Ser797Pro) c.148T>C (p.Ser50Pro) c.319T>C (p.Ser107Pro) c.2434T>C (p.Ser812Pro) | |
| 2 | g.26477433A>T | CA346123075 | OTOF | c.2389T>A (p.Ser797Thr) c.148T>A (p.Ser50Thr) c.319T>A (p.Ser107Thr) c.2434T>A (p.Ser812Thr) |