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.26475934_26475937del | CA2658237121 | OTOF | c.2972_2975del (p.Asn991ArgfsTer8) c.731_734del (p.Asn244ArgfsTer8) c.902_905del (p.Asn301ArgfsTer8) c.3017_3020del (p.Asn1006ArgfsTer8) | gnomAD v4 |
| 2 | g.26475933_26475953del | CA2658237122 | OTOF | c.2953_2973del (p.Ala985_Asn991del) c.712_732del (p.Ala238_Asn244del) c.883_903del (p.Ala295_Asn301del) c.2998_3018del (p.Ala1000_Asn1006del) | gnomAD v4 |
| 2 | g.26475933T>A | CA346112515 | OTOF | c.2972A>T (p.Asn991Ile) c.731A>T (p.Asn244Ile) c.902A>T (p.Asn301Ile) c.3017A>T (p.Asn1006Ile) | |
| 2 | g.26475933T>C | CA142836 | OTOF | c.2972A>G (p.Asn991Ser) c.731A>G (p.Asn244Ser) c.902A>G (p.Asn301Ser) c.3017A>G (p.Asn1006Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26475933T>G | CA346112524 | OTOF | c.2972A>C (p.Asn991Thr) c.731A>C (p.Asn244Thr) c.902A>C (p.Asn301Thr) c.3017A>C (p.Asn1006Thr) | |
| 2 | g.26475933T= | CA1239827690 | OTOF | c.2972A= (p.Asn991=) c.731A= (p.Asn244=) c.902A= (p.Asn301=) c.3017A= (p.Asn1006=) | |
| 2 | g.26475934T>A | CA346112528 | OTOF | c.2971A>T (p.Asn991Tyr) c.730A>T (p.Asn244Tyr) c.901A>T (p.Asn301Tyr) c.3016A>T (p.Asn1006Tyr) | |
| 2 | g.26475934T>C | CA346112537 | OTOF | c.2971A>G (p.Asn991Asp) c.730A>G (p.Asn244Asp) c.901A>G (p.Asn301Asp) c.3016A>G (p.Asn1006Asp) | |
| 2 | g.26475934T>G | CA346112540 | OTOF | c.2971A>C (p.Asn991His) c.730A>C (p.Asn244His) c.901A>C (p.Asn301His) c.3016A>C (p.Asn1006His) | |
| 2 | g.26475935G>A | CA425359879 | OTOF | c.2970C>T (p.Ile990=) c.729C>T (p.Ile243=) c.900C>T (p.Ile300=) c.3015C>T (p.Ile1005=) | |
| 2 | g.26475935G>C | CA346112543 | OTOF | c.2970C>G (p.Ile990Met) c.729C>G (p.Ile243Met) c.900C>G (p.Ile300Met) c.3015C>G (p.Ile1005Met) | gnomAD v4 |
| 2 | g.26475935G>T | CA425359881 | OTOF | c.2970C>A (p.Ile990=) c.729C>A (p.Ile243=) c.900C>A (p.Ile300=) c.3015C>A (p.Ile1005=) | |
| 2 | g.26475936A>C | CA346112550 | OTOF | c.2969T>G (p.Ile990Ser) c.728T>G (p.Ile243Ser) c.899T>G (p.Ile300Ser) c.3014T>G (p.Ile1005Ser) | |
| 2 | g.26475936A>G | CA346112548 | OTOF | c.2969T>C (p.Ile990Thr) c.728T>C (p.Ile243Thr) c.899T>C (p.Ile300Thr) c.3014T>C (p.Ile1005Thr) | |
| 2 | g.26475936A>T | CA346112549 | OTOF | c.2969T>A (p.Ile990Asn) c.728T>A (p.Ile243Asn) c.899T>A (p.Ile300Asn) c.3014T>A (p.Ile1005Asn) | |
| 2 | g.26475937T>A | CA346112551 | OTOF | c.2968A>T (p.Ile990Phe) c.727A>T (p.Ile243Phe) c.898A>T (p.Ile300Phe) c.3013A>T (p.Ile1005Phe) | |
| 2 | g.26475937T>C | CA346112554 | OTOF | c.2968A>G (p.Ile990Val) c.727A>G (p.Ile243Val) c.898A>G (p.Ile300Val) c.3013A>G (p.Ile1005Val) | |
| 2 | g.26475937T>G | CA346112558 | OTOF | c.2968A>C (p.Ile990Leu) c.727A>C (p.Ile243Leu) c.898A>C (p.Ile300Leu) c.3013A>C (p.Ile1005Leu) | |
| 2 | g.26475937_26475940delinsTGAA | CA1239827695 | OTOF | c.2965_2968delinsTTCA (p.Phe989=) c.724_727delinsTTCA (p.Phe242=) c.895_898delinsTTCA (p.Phe299=) c.3010_3013delinsTTCA (p.Phe1004=) | |
| 2 | g.26475938G>A | CA425359892 | OTOF | c.2967C>T (p.Phe989=) c.726C>T (p.Phe242=) c.897C>T (p.Phe299=) c.3012C>T (p.Phe1004=) | |
| 2 | g.26475938G>C | CA346112562 | OTOF | c.2967C>G (p.Phe989Leu) c.726C>G (p.Phe242Leu) c.897C>G (p.Phe299Leu) c.3012C>G (p.Phe1004Leu) | |
| 2 | g.26475938G>T | CA346112563 | OTOF | c.2967C>A (p.Phe989Leu) c.726C>A (p.Phe242Leu) c.897C>A (p.Phe299Leu) c.3012C>A (p.Phe1004Leu) | |
| 2 | g.26475943_26475945del | CA425359896 | OTOF | c.2965_2967del (p.Phe989del) c.724_726del (p.Phe242del) c.895_897del (p.Phe299del) c.3010_3012del (p.Phe1004del) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.26475939A>C | CA346112566 | OTOF | c.2966T>G (p.Phe989Cys) c.725T>G (p.Phe242Cys) c.896T>G (p.Phe299Cys) c.3011T>G (p.Phe1004Cys) | |
| 2 | g.26475939A>G | CA346112568 | OTOF | c.2966T>C (p.Phe989Ser) c.725T>C (p.Phe242Ser) c.896T>C (p.Phe299Ser) c.3011T>C (p.Phe1004Ser) | |
| 2 | g.26475939A>T | CA346112570 | OTOF | c.2966T>A (p.Phe989Tyr) c.725T>A (p.Phe242Tyr) c.896T>A (p.Phe299Tyr) c.3011T>A (p.Phe1004Tyr) | |
| 2 | g.26475940A>C | CA346112572 | OTOF | c.2965T>G (p.Phe989Val) c.724T>G (p.Phe242Val) c.895T>G (p.Phe299Val) c.3010T>G (p.Phe1004Val) | |
| 2 | g.26475940A>G | CA346112583 | OTOF | c.2965T>C (p.Phe989Leu) c.724T>C (p.Phe242Leu) c.895T>C (p.Phe299Leu) c.3010T>C (p.Phe1004Leu) | |
| 2 | g.26475940A>T | CA346112598 | OTOF | c.2965T>A (p.Phe989Ile) c.724T>A (p.Phe242Ile) c.895T>A (p.Phe299Ile) c.3010T>A (p.Phe1004Ile) | gnomAD v4 |
| 2 | g.26475941G>A | CA425359903 | OTOF | c.2964C>T (p.Phe988=) c.723C>T (p.Phe241=) c.894C>T (p.Phe298=) c.3009C>T (p.Phe1003=) | ClinVar dbSNP |
| 2 | g.26475941G>C | CA1563713 | OTOF | c.2964C>G (p.Phe988Leu) c.723C>G (p.Phe241Leu) c.894C>G (p.Phe298Leu) c.3009C>G (p.Phe1003Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.26475941G= | CA1239827698 | OTOF | c.2964C= (p.Phe988=) c.723C= (p.Phe241=) c.894C= (p.Phe298=) c.3009C= (p.Phe1003=) | |
| 2 | g.26475941G>T | CA346112607 | OTOF | c.2964C>A (p.Phe988Leu) c.723C>A (p.Phe241Leu) c.894C>A (p.Phe298Leu) c.3009C>A (p.Phe1003Leu) | |
| 2 | g.26475942A= | CA1239827699 | OTOF | c.2963T= (p.Phe988=) c.722T= (p.Phe241=) c.893T= (p.Phe298=) c.3008T= (p.Phe1003=) | |
| 2 | g.26475942A>C | CA1563714 | OTOF | c.2963T>G (p.Phe988Cys) c.722T>G (p.Phe241Cys) c.893T>G (p.Phe298Cys) c.3008T>G (p.Phe1003Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.26475942A>G | CA346112609 | OTOF | c.2963T>C (p.Phe988Ser) c.722T>C (p.Phe241Ser) c.893T>C (p.Phe298Ser) c.3008T>C (p.Phe1003Ser) | |
| 2 | g.26475942A>T | CA346112612 | OTOF | c.2963T>A (p.Phe988Tyr) c.722T>A (p.Phe241Tyr) c.893T>A (p.Phe298Tyr) c.3008T>A (p.Phe1003Tyr) | |
| 2 | g.26475943A= | CA1239827701 | OTOF | c.2962T= (p.Phe988=) c.721T= (p.Phe241=) c.892T= (p.Phe298=) c.3007T= (p.Phe1003=) | |
| 2 | g.26475943A>C | CA44397821 | OTOF | c.2962T>G (p.Phe988Val) c.721T>G (p.Phe241Val) c.892T>G (p.Phe298Val) c.3007T>G (p.Phe1003Val) | dbSNP gnomAD v4 |
| 2 | g.26475943A>G | CA346112618 | OTOF | c.2962T>C (p.Phe988Leu) c.721T>C (p.Phe241Leu) c.892T>C (p.Phe298Leu) c.3007T>C (p.Phe1003Leu) | |
| 2 | g.26475943A>T | CA346112622 | OTOF | c.2962T>A (p.Phe988Ile) c.721T>A (p.Phe241Ile) c.892T>A (p.Phe298Ile) c.3007T>A (p.Phe1003Ile) | |
| 2 | g.26475944G>A | CA425359910 | OTOF | c.2961C>T (p.Val987=) c.720C>T (p.Val240=) c.891C>T (p.Val297=) c.3006C>T (p.Val1002=) | |
| 2 | g.26475944G>C | CA425359911 | OTOF | c.2961C>G (p.Val987=) c.720C>G (p.Val240=) c.891C>G (p.Val297=) c.3006C>G (p.Val1002=) | |
| 2 | g.26475944G>T | CA425359912 | OTOF | c.2961C>A (p.Val987=) c.720C>A (p.Val240=) c.891C>A (p.Val297=) c.3006C>A (p.Val1002=) | |
| 2 | g.26475945A>C | CA346112627 | OTOF | c.2960T>G (p.Val987Gly) c.719T>G (p.Val240Gly) c.890T>G (p.Val297Gly) c.3005T>G (p.Val1002Gly) | |
| 2 | g.26475945A>G | CA346112631 | OTOF | c.2960T>C (p.Val987Ala) c.719T>C (p.Val240Ala) c.890T>C (p.Val297Ala) c.3005T>C (p.Val1002Ala) | |
| 2 | g.26475945A>T | CA346112634 | OTOF | c.2960T>A (p.Val987Asp) c.719T>A (p.Val240Asp) c.890T>A (p.Val297Asp) c.3005T>A (p.Val1002Asp) | |
| 2 | g.26475946C>A | CA346112636 | OTOF | c.2959G>T (p.Val987Phe) c.718G>T (p.Val240Phe) c.889G>T (p.Val297Phe) c.3004G>T (p.Val1002Phe) | |
| 2 | g.26475946C= | CA1239827704 | OTOF | c.2959G= (p.Val987=) c.718G= (p.Val240=) c.889G= (p.Val297=) c.3004G= (p.Val1002=) | |
| 2 | g.26475946C>G | CA346112640 | OTOF | c.2959G>C (p.Val987Leu) c.718G>C (p.Val240Leu) c.889G>C (p.Val297Leu) c.3004G>C (p.Val1002Leu) |