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.26475965_26475987delinsGAGTCCGCTGCTGTCGGCGGCAA | CA1239827727 | OTOF | c.2918_2940delinsTTGCCGCCGACAGCAGCGGACTC (p.Phe973=) c.677_699delinsTTGCCGCCGACAGCAGCGGACTC (p.Phe226=) c.848_870delinsTTGCCGCCGACAGCAGCGGACTC (p.Phe283=) c.2963_2985delinsTTGCCGCCGACAGCAGCGGACTC (p.Phe988=) | |
| 2 | g.26475968_26475989del | CA531761809 | OTOF | c.2918_2939del (p.Phe973SerfsTer20) c.677_698del (p.Phe226SerfsTer20) c.848_869del (p.Phe283SerfsTer20) c.2963_2984del (p.Phe988SerfsTer20) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.26475968T>A | CA425359959 | OTOF | c.2937A>T (p.Gly979=) c.696A>T (p.Gly232=) c.867A>T (p.Gly289=) c.2982A>T (p.Gly994=) | |
| 2 | g.26475968T>C | CA425359960 | OTOF | c.2937A>G (p.Gly979=) c.696A>G (p.Gly232=) c.867A>G (p.Gly289=) c.2982A>G (p.Gly994=) | |
| 2 | g.26475968T>G | CA425359961 | OTOF | c.2937A>C (p.Gly979=) c.696A>C (p.Gly232=) c.867A>C (p.Gly289=) c.2982A>C (p.Gly994=) | |
| 2 | g.26475969C>A | CA346112881 | OTOF | c.2936G>T (p.Gly979Val) c.695G>T (p.Gly232Val) c.866G>T (p.Gly289Val) c.2981G>T (p.Gly994Val) | |
| 2 | g.26475969C= | CA1239827730 | OTOF | c.2936G= (p.Gly979=) c.695G= (p.Gly232=) c.866G= (p.Gly289=) c.2981G= (p.Gly994=) | |
| 2 | g.26475969C>G | CA346112883 | OTOF | c.2936G>C (p.Gly979Ala) c.695G>C (p.Gly232Ala) c.866G>C (p.Gly289Ala) c.2981G>C (p.Gly994Ala) | |
| 2 | g.26475969C>T | CA346112882 | OTOF | c.2936G>A (p.Gly979Glu) c.695G>A (p.Gly232Glu) c.866G>A (p.Gly289Glu) c.2981G>A (p.Gly994Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.26475970C>A | CA346112887 | OTOF | c.2935G>T (p.Gly979Ter) c.694G>T (p.Gly232Ter) c.865G>T (p.Gly289Ter) c.2980G>T (p.Gly994Ter) | |
| 2 | g.26475970C= | CA1239827732 | OTOF | c.2935G= (p.Gly979=) c.694G= (p.Gly232=) c.865G= (p.Gly289=) c.2980G= (p.Gly994=) | |
| 2 | g.26475970C>G | CA346112895 | OTOF | c.2935G>C (p.Gly979Arg) c.694G>C (p.Gly232Arg) c.865G>C (p.Gly289Arg) c.2980G>C (p.Gly994Arg) | gnomAD v4 |
| 2 | g.26475970C>T | CA346112908 | OTOF | c.2935G>A (p.Gly979Arg) c.694G>A (p.Gly232Arg) c.865G>A (p.Gly289Arg) c.2980G>A (p.Gly994Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26475971G>A | CA1563720 | OTOF | c.2934C>T (p.Ser978=) c.693C>T (p.Ser231=) c.864C>T (p.Ser288=) c.2979C>T (p.Ser993=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26475971G>C | CA346112940 | OTOF | c.2934C>G (p.Ser978Arg) c.693C>G (p.Ser231Arg) c.864C>G (p.Ser288Arg) c.2979C>G (p.Ser993Arg) | |
| 2 | g.26475971G= | CA1239827734 | OTOF | c.2934C= (p.Ser978=) c.693C= (p.Ser231=) c.864C= (p.Ser288=) c.2979C= (p.Ser993=) | |
| 2 | g.26475971G>T | CA346112941 | OTOF | c.2934C>A (p.Ser978Arg) c.693C>A (p.Ser231Arg) c.864C>A (p.Ser288Arg) c.2979C>A (p.Ser993Arg) | |
| 2 | g.26475972C>A | CA346112942 | OTOF | c.2933G>T (p.Ser978Ile) c.692G>T (p.Ser231Ile) c.863G>T (p.Ser288Ile) c.2978G>T (p.Ser993Ile) | |
| 2 | g.26475972C= | CA1239827736 | OTOF | c.2933G= (p.Ser978=) c.692G= (p.Ser231=) c.863G= (p.Ser288=) c.2978G= (p.Ser993=) | |
| 2 | g.26475972C>G | CA346112949 | OTOF | c.2933G>C (p.Ser978Thr) c.692G>C (p.Ser231Thr) c.863G>C (p.Ser288Thr) c.2978G>C (p.Ser993Thr) | |
| 2 | g.26475972C>T | CA44397833 | OTOF | c.2933G>A (p.Ser978Asn) c.692G>A (p.Ser231Asn) c.863G>A (p.Ser288Asn) c.2978G>A (p.Ser993Asn) | dbSNP |
| 2 | g.26475973T>A | CA346112956 | OTOF | c.2932A>T (p.Ser978Cys) c.691A>T (p.Ser231Cys) c.862A>T (p.Ser288Cys) c.2977A>T (p.Ser993Cys) | |
| 2 | g.26475973T>C | CA346112959 | OTOF | c.2932A>G (p.Ser978Gly) c.691A>G (p.Ser231Gly) c.862A>G (p.Ser288Gly) c.2977A>G (p.Ser993Gly) | |
| 2 | g.26475973T>G | CA346112993 | OTOF | c.2932A>C (p.Ser978Arg) c.691A>C (p.Ser231Arg) c.862A>C (p.Ser288Arg) c.2977A>C (p.Ser993Arg) | |
| 2 | g.26475974G>A | CA1563721 | OTOF | c.2931C>T (p.Ser977=) c.690C>T (p.Ser230=) c.861C>T (p.Ser287=) c.2976C>T (p.Ser992=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.26475974G>C | CA346113008 | OTOF | c.2931C>G (p.Ser977Arg) c.690C>G (p.Ser230Arg) c.861C>G (p.Ser287Arg) c.2976C>G (p.Ser992Arg) | |
| 2 | g.26475974G= | CA1239827738 | OTOF | c.2931C= (p.Ser977=) c.690C= (p.Ser230=) c.861C= (p.Ser287=) c.2976C= (p.Ser992=) | |
| 2 | g.26475974G>T | CA346112998 | OTOF | c.2931C>A (p.Ser977Arg) c.690C>A (p.Ser230Arg) c.861C>A (p.Ser287Arg) c.2976C>A (p.Ser992Arg) | |
| 2 | g.26475976_26475982del | CA2658237139 | OTOF | c.2925_2931del (p.Asp976AlafsTer22) c.684_690del (p.Asp229AlafsTer22) c.855_861del (p.Asp286AlafsTer22) c.2970_2976del (p.Asp991AlafsTer22) | gnomAD v4 |
| 2 | g.26475975C>A | CA346113015 | OTOF | c.2930G>T (p.Ser977Ile) c.689G>T (p.Ser230Ile) c.860G>T (p.Ser287Ile) c.2975G>T (p.Ser992Ile) | |
| 2 | g.26475975C= | CA1239827740 | OTOF | c.2930G= (p.Ser977=) c.689G= (p.Ser230=) c.860G= (p.Ser287=) c.2975G= (p.Ser992=) | |
| 2 | g.26475975C>G | CA346113017 | OTOF | c.2930G>C (p.Ser977Thr) c.689G>C (p.Ser230Thr) c.860G>C (p.Ser287Thr) c.2975G>C (p.Ser992Thr) | |
| 2 | g.26475975C>T | CA346113030 | OTOF | c.2930G>A (p.Ser977Asn) c.689G>A (p.Ser230Asn) c.860G>A (p.Ser287Asn) c.2975G>A (p.Ser992Asn) | dbSNP |
| 2 | g.26475976T>A | CA346113032 | OTOF | c.2929A>T (p.Ser977Cys) c.688A>T (p.Ser230Cys) c.859A>T (p.Ser287Cys) c.2974A>T (p.Ser992Cys) | |
| 2 | g.26475976T>C | CA346113035 | OTOF | c.2929A>G (p.Ser977Gly) c.688A>G (p.Ser230Gly) c.859A>G (p.Ser287Gly) c.2974A>G (p.Ser992Gly) | |
| 2 | g.26475976T>G | CA346113040 | OTOF | c.2929A>C (p.Ser977Arg) c.688A>C (p.Ser230Arg) c.859A>C (p.Ser287Arg) c.2974A>C (p.Ser992Arg) | |
| 2 | g.26475977G>A | CA1563722 | OTOF | c.2928C>T (p.Asp976=) c.687C>T (p.Asp229=) c.858C>T (p.Asp286=) c.2973C>T (p.Asp991=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26475977G>C | CA346113046 | OTOF | c.2928C>G (p.Asp976Glu) c.687C>G (p.Asp229Glu) c.858C>G (p.Asp286Glu) c.2973C>G (p.Asp991Glu) | |
| 2 | g.26475977G= | CA1239827744 | OTOF | c.2928C= (p.Asp976=) c.687C= (p.Asp229=) c.858C= (p.Asp286=) c.2973C= (p.Asp991=) | |
| 2 | g.26475977G>T | CA346113059 | OTOF | c.2928C>A (p.Asp976Glu) c.687C>A (p.Asp229Glu) c.858C>A (p.Asp286Glu) c.2973C>A (p.Asp991Glu) | dbSNP |
| 2 | g.26475978T>A | CA346113066 | OTOF | c.2927A>T (p.Asp976Val) c.686A>T (p.Asp229Val) c.857A>T (p.Asp286Val) c.2972A>T (p.Asp991Val) | |
| 2 | g.26475978T>C | CA346113073 | OTOF | c.2927A>G (p.Asp976Gly) c.686A>G (p.Asp229Gly) c.857A>G (p.Asp286Gly) c.2972A>G (p.Asp991Gly) | |
| 2 | g.26475978T>G | CA346113089 | OTOF | c.2927A>C (p.Asp976Ala) c.686A>C (p.Asp229Ala) c.857A>C (p.Asp286Ala) c.2972A>C (p.Asp991Ala) | |
| 2 | g.26475979C>A | CA346113106 | OTOF | c.2926G>T (p.Asp976Tyr) c.685G>T (p.Asp229Tyr) c.856G>T (p.Asp286Tyr) c.2971G>T (p.Asp991Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26475979C= | CA1239827747 | OTOF | c.2926G= (p.Asp976=) c.685G= (p.Asp229=) c.856G= (p.Asp286=) c.2971G= (p.Asp991=) | |
| 2 | g.26475979C>G | CA346113105 | OTOF | c.2926G>C (p.Asp976His) c.685G>C (p.Asp229His) c.856G>C (p.Asp286His) c.2971G>C (p.Asp991His) | gnomAD v4 COSMIC COSMIC COSMIC |
| 2 | g.26475979C>T | CA1563723 | OTOF | c.2926G>A (p.Asp976Asn) c.685G>A (p.Asp229Asn) c.856G>A (p.Asp286Asn) c.2971G>A (p.Asp991Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26475980G>A | CA1563724 | OTOF | c.2925C>T (p.Ala975=) c.684C>T (p.Ala228=) c.855C>T (p.Ala285=) c.2970C>T (p.Ala990=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 2 | g.26475980G>C | CA425359979 | OTOF | c.2925C>G (p.Ala975=) c.684C>G (p.Ala228=) c.855C>G (p.Ala285=) c.2970C>G (p.Ala990=) | |
| 2 | g.26475980G= | CA1239827749 | OTOF | c.2925C= (p.Ala975=) c.684C= (p.Ala228=) c.855C= (p.Ala285=) c.2970C= (p.Ala990=) |