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.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.26475981_26476000delinsGCGGCAAAGAGGCTGCGGGC | CA1239827751 | OTOF | c.2905_2924delinsGCCCGCAGCCTCTTTGCCGC (p.Ala969=) c.664_683delinsGCCCGCAGCCTCTTTGCCGC (p.Ala222=) c.835_854delinsGCCCGCAGCCTCTTTGCCGC (p.Ala279=) c.2950_2969delinsGCCCGCAGCCTCTTTGCCGC (p.Ala984=) | |
| 2 | g.26475982_26476000delinsTGCGCTCGGAG | CA345111 | OTOF | c.2905_2923delinsCTCCGAGCGCA (p.Ala969LeufsTer30) c.664_682delinsCTCCGAGCGCA (p.Ala222LeufsTer30) c.835_853delinsCTCCGAGCGCA (p.Ala279LeufsTer30) c.2950_2968delinsCTCCGAGCGCA (p.Ala984LeufsTer30) | ClinVar dbSNP |
| 2 | g.26475988dup | CA2586968812 | OTOF | c.2919dup (p.Ala974CysfsTer28) c.678dup (p.Ala227CysfsTer28) c.849dup (p.Ala284CysfsTer28) c.2964dup (p.Ala989CysfsTer28) | |
| 2 | g.26475987_26475988del | CA346113188 | OTOF | c.2918_2919del (p.Phe973CysfsTer28) c.677_678del (p.Phe226CysfsTer28) c.848_849del (p.Phe283CysfsTer28) c.2963_2964del (p.Phe988CysfsTer28) | dbSNP |
| 2 | g.26475988A>C | CA346113197 | OTOF | c.2917T>G (p.Phe973Val) c.676T>G (p.Phe226Val) c.847T>G (p.Phe283Val) c.2962T>G (p.Phe988Val) | |
| 2 | g.26475988A>G | CA346113201 | OTOF | c.2917T>C (p.Phe973Leu) c.676T>C (p.Phe226Leu) c.847T>C (p.Phe283Leu) c.2962T>C (p.Phe988Leu) | |
| 2 | g.26475988A>T | CA346113207 | OTOF | c.2917T>A (p.Phe973Ile) c.676T>A (p.Phe226Ile) c.847T>A (p.Phe283Ile) c.2962T>A (p.Phe988Ile) | |
| 2 | g.26475989G>A | CA425359999 | OTOF | c.2916C>T (p.Leu972=) c.675C>T (p.Leu225=) c.846C>T (p.Leu282=) c.2961C>T (p.Leu987=) | gnomAD v4 |
| 2 | g.26475989G>C | CA425360000 | OTOF | c.2916C>G (p.Leu972=) c.675C>G (p.Leu225=) c.846C>G (p.Leu282=) c.2961C>G (p.Leu987=) | gnomAD v4 |
| 2 | g.26475989G>T | CA425360001 | OTOF | c.2916C>A (p.Leu972=) c.675C>A (p.Leu225=) c.846C>A (p.Leu282=) c.2961C>A (p.Leu987=) | |
| 2 | g.26475990A>C | CA346113212 | OTOF | c.2915T>G (p.Leu972Arg) c.674T>G (p.Leu225Arg) c.845T>G (p.Leu282Arg) c.2960T>G (p.Leu987Arg) | |
| 2 | g.26475990A>G | CA346113216 | OTOF | c.2915T>C (p.Leu972Pro) c.674T>C (p.Leu225Pro) c.845T>C (p.Leu282Pro) c.2960T>C (p.Leu987Pro) | |
| 2 | g.26475990A>T | CA346113221 | OTOF | c.2915T>A (p.Leu972His) c.674T>A (p.Leu225His) c.845T>A (p.Leu282His) c.2960T>A (p.Leu987His) | |
| 2 | g.26475991G>A | CA346113232 | OTOF | c.2914C>T (p.Leu972Phe) c.673C>T (p.Leu225Phe) c.844C>T (p.Leu282Phe) c.2959C>T (p.Leu987Phe) | |
| 2 | g.26475991G>C | CA346113235 | OTOF | c.2914C>G (p.Leu972Val) c.673C>G (p.Leu225Val) c.844C>G (p.Leu282Val) c.2959C>G (p.Leu987Val) | |
| 2 | g.26475991G>T | CA346113261 | OTOF | c.2914C>A (p.Leu972Ile) c.673C>A (p.Leu225Ile) c.844C>A (p.Leu282Ile) c.2959C>A (p.Leu987Ile) | |
| 2 | g.26475992G>A | CA425360006 | OTOF | c.2913C>T (p.Ser971=) c.672C>T (p.Ser224=) c.843C>T (p.Ser281=) c.2958C>T (p.Ser986=) | gnomAD v4 |
| 2 | g.26475992G>C | CA44397845 | OTOF | c.2913C>G (p.Ser971Arg) c.672C>G (p.Ser224Arg) c.843C>G (p.Ser281Arg) c.2958C>G (p.Ser986Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26475992G= | CA1239827767 | OTOF | c.2913C= (p.Ser971=) c.672C= (p.Ser224=) c.843C= (p.Ser281=) c.2958C= (p.Ser986=) | |
| 2 | g.26475992G>T | CA346113270 | OTOF | c.2913C>A (p.Ser971Arg) c.672C>A (p.Ser224Arg) c.843C>A (p.Ser281Arg) c.2958C>A (p.Ser986Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.26475993C>A | CA346113284 | OTOF | c.2912G>T (p.Ser971Ile) c.671G>T (p.Ser224Ile) c.842G>T (p.Ser281Ile) c.2957G>T (p.Ser986Ile) | |
| 2 | g.26475993C>G | CA346113305 | OTOF | c.2912G>C (p.Ser971Thr) c.671G>C (p.Ser224Thr) c.842G>C (p.Ser281Thr) c.2957G>C (p.Ser986Thr) | |
| 2 | g.26475993C>T | CA346113316 | OTOF | c.2912G>A (p.Ser971Asn) c.671G>A (p.Ser224Asn) c.842G>A (p.Ser281Asn) c.2957G>A (p.Ser986Asn) | |
| 2 | g.26475994T>A | CA346113322 | OTOF | c.2911A>T (p.Ser971Cys) c.670A>T (p.Ser224Cys) c.841A>T (p.Ser281Cys) c.2956A>T (p.Ser986Cys) | |
| 2 | g.26475994T>C | CA346113324 | OTOF | c.2911A>G (p.Ser971Gly) c.670A>G (p.Ser224Gly) c.841A>G (p.Ser281Gly) c.2956A>G (p.Ser986Gly) | gnomAD v4 |
| 2 | g.26475994T>G | CA346113325 | OTOF | c.2911A>C (p.Ser971Arg) c.670A>C (p.Ser224Arg) c.841A>C (p.Ser281Arg) c.2956A>C (p.Ser986Arg) | |
| 2 | g.26475995G>A | CA425360011 | OTOF | c.2910C>T (p.Arg970=) c.669C>T (p.Arg223=) c.840C>T (p.Arg280=) c.2955C>T (p.Arg985=) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.26475995G>C | CA425360012 | OTOF | c.2910C>G (p.Arg970=) c.669C>G (p.Arg223=) c.840C>G (p.Arg280=) c.2955C>G (p.Arg985=) | |
| 2 | g.26475995G= | CA1239827768 | OTOF | c.2910C= (p.Arg970=) c.669C= (p.Arg223=) c.840C= (p.Arg280=) c.2955C= (p.Arg985=) | |
| 2 | g.26475995G>T | CA425360014 | OTOF | c.2910C>A (p.Arg970=) c.669C>A (p.Arg223=) c.840C>A (p.Arg280=) c.2955C>A (p.Arg985=) | |
| 2 | g.26475996C>A | CA346113335 | OTOF | c.2909G>T (p.Arg970Leu) c.668G>T (p.Arg223Leu) c.839G>T (p.Arg280Leu) c.2954G>T (p.Arg985Leu) | |
| 2 | g.26475996C= | CA1239827771 | OTOF | c.2909G= (p.Arg970=) c.668G= (p.Arg223=) c.839G= (p.Arg280=) c.2954G= (p.Arg985=) | |
| 2 | g.26475996C>G | CA346113337 | OTOF | c.2909G>C (p.Arg970Pro) c.668G>C (p.Arg223Pro) c.839G>C (p.Arg280Pro) c.2954G>C (p.Arg985Pro) | |
| 2 | g.26475996C>T | CA346113339 | OTOF | c.2909G>A (p.Arg970His) c.668G>A (p.Arg223His) c.839G>A (p.Arg280His) c.2954G>A (p.Arg985His) | dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
| 2 | g.26475997G>A | CA142832 | OTOF | c.2908C>T (p.Arg970Cys) c.667C>T (p.Arg223Cys) c.838C>T (p.Arg280Cys) c.2953C>T (p.Arg985Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26475997G>C | CA346113345 | OTOF | c.2908C>G (p.Arg970Gly) c.667C>G (p.Arg223Gly) c.838C>G (p.Arg280Gly) c.2953C>G (p.Arg985Gly) | |
| 2 | g.26475997G= | CA1239827773 | OTOF | c.2908C= (p.Arg970=) c.667C= (p.Arg223=) c.838C= (p.Arg280=) c.2953C= (p.Arg985=) | |
| 2 | g.26475997G>T | CA346113370 | OTOF | c.2908C>A (p.Arg970Ser) c.667C>A (p.Arg223Ser) c.838C>A (p.Arg280Ser) c.2953C>A (p.Arg985Ser) | |
| 2 | g.26475998G>A | CA425360023 | OTOF | c.2907C>T (p.Ala969=) c.666C>T (p.Ala222=) c.837C>T (p.Ala279=) c.2952C>T (p.Ala984=) | |
| 2 | g.26475998G>C | CA425360024 | OTOF | c.2907C>G (p.Ala969=) c.666C>G (p.Ala222=) c.837C>G (p.Ala279=) c.2952C>G (p.Ala984=) | |
| 2 | g.26475998G>T | CA425360026 | OTOF | c.2907C>A (p.Ala969=) c.666C>A (p.Ala222=) c.837C>A (p.Ala279=) c.2952C>A (p.Ala984=) | |
| 2 | g.26475999G>A | CA346113382 | OTOF | c.2906C>T (p.Ala969Val) c.665C>T (p.Ala222Val) c.836C>T (p.Ala279Val) c.2951C>T (p.Ala984Val) | |
| 2 | g.26475999G>C | CA346113378 | OTOF | c.2906C>G (p.Ala969Gly) c.665C>G (p.Ala222Gly) c.836C>G (p.Ala279Gly) c.2951C>G (p.Ala984Gly) | |
| 2 | g.26475999G>T | CA346113374 | OTOF | c.2906C>A (p.Ala969Asp) c.665C>A (p.Ala222Asp) c.836C>A (p.Ala279Asp) c.2951C>A (p.Ala984Asp) | |
| 2 | g.26476000C>A | CA346113384 | OTOF | c.2905G>T (p.Ala969Ser) c.664G>T (p.Ala222Ser) c.835G>T (p.Ala279Ser) c.2950G>T (p.Ala984Ser) | |
| 2 | g.26476000C>G | CA346113385 | OTOF | c.2905G>C (p.Ala969Pro) c.664G>C (p.Ala222Pro) c.835G>C (p.Ala279Pro) c.2950G>C (p.Ala984Pro) | |
| 2 | g.26476000C>T | CA346113391 | OTOF | c.2905G>A (p.Ala969Thr) c.664G>A (p.Ala222Thr) c.835G>A (p.Ala279Thr) c.2950G>A (p.Ala984Thr) | |
| 2 | g.26476001C>A | CA346113396 | OTOF | c.2904G>T (p.Gln968His) c.663G>T (p.Gln221His) c.834G>T (p.Gln278His) c.2949G>T (p.Gln983His) | |
| 2 | g.26476001C>G | CA346113401 | OTOF | c.2904G>C (p.Gln968His) c.663G>C (p.Gln221His) c.834G>C (p.Gln278His) c.2949G>C (p.Gln983His) |