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.26460005_26460010delinsGACCCA | CA1239823946 | OTOF | c.*15_*17+3delinsTGGGTC c.3512+637_3512+642delinsTGGGTC (n.3512+637_3512+642delinsTGGGTC) c.5813+637_5813+642delinsTGGGTC (n.5813+637_5813+642delinsTGGGTC) c.5798+637_5798+642delinsTGGGTC (n.5798+637_5798+642delinsTGGGTC) c.5858+637_5858+642delinsTGGGTC (n.5858+637_5858+642delinsTGGGTC) | |
| 2 | g.26460006_26460010del | CA1028604286 | OTOF | c.*15_*17+2del c.3512+637_3512+641del (n.3512+637_3512+641del) c.5813+637_5813+641del (n.5813+637_5813+641del) c.5798+637_5798+641del (n.5798+637_5798+641del) c.5858+637_5858+641del (n.5858+637_5858+641del) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.26460009C>A | CA2576698609 | OTOF | c.*16G>T (n.*16G>T) c.3512+638G>T (n.3512+638G>T) c.5813+638G>T (n.5813+638G>T) c.5798+638G>T (n.5798+638G>T) c.5858+638G>T (n.5858+638G>T) | gnomAD v4 |
| 2 | g.26460009_26460012delinsCAGG | CA1239823950 | OTOF | c.*13_*16delinsCCTG (n.*13_*16delinsCCTG) c.3512+635_3512+638delinsCCTG (n.3512+635_3512+638delinsCCTG) c.5813+635_5813+638delinsCCTG (n.5813+635_5813+638delinsCCTG) c.5798+635_5798+638delinsCCTG (n.5798+635_5798+638delinsCCTG) c.5858+635_5858+638delinsCCTG (n.5858+635_5858+638delinsCCTG) | |
| 2 | g.26460010A>G | CA2658232630 | OTOF | c.*15T>C (n.*15T>C) c.3512+637T>C (n.3512+637T>C) c.5813+637T>C (n.5813+637T>C) c.5798+637T>C (n.5798+637T>C) c.5858+637T>C (n.5858+637T>C) | gnomAD v4 |
| 2 | g.26460010A>T | CA2658232629 | OTOF | c.*15T>A (n.*15T>A) c.3512+637T>A (n.3512+637T>A) c.5813+637T>A (n.5813+637T>A) c.5798+637T>A (n.5798+637T>A) c.5858+637T>A (n.5858+637T>A) | gnomAD v4 |
| 2 | g.26460013_26460015del | CA1562646 | OTOF | c.*13_*15del (n.*13_*15del) c.3512+635_3512+637del (n.3512+635_3512+637del) c.5813+635_5813+637del (n.5813+635_5813+637del) c.5798+635_5798+637del (n.5798+635_5798+637del) c.5858+635_5858+637del (n.5858+635_5858+637del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26460011G>A | CA2658232631 | OTOF | c.*14C>T (n.*14C>T) c.3512+636C>T (n.3512+636C>T) c.5813+636C>T (n.5813+636C>T) c.5798+636C>T (n.5798+636C>T) c.5858+636C>T (n.5858+636C>T) | gnomAD v4 |
| 2 | g.26460012G>A | CA2658232632 | OTOF | c.*13C>T (n.*13C>T) c.3512+635C>T (n.3512+635C>T) c.5813+635C>T (n.5813+635C>T) c.5798+635C>T (n.5798+635C>T) c.5858+635C>T (n.5858+635C>T) | gnomAD v4 |
| 2 | g.26460013A>C | CA2658232634 | OTOF | c.*12T>G (n.*12T>G) c.3512+634T>G (n.3512+634T>G) c.5813+634T>G (n.5813+634T>G) c.5798+634T>G (n.5798+634T>G) c.5858+634T>G (n.5858+634T>G) | gnomAD v4 |
| 2 | g.26460018_26460031del | CA2658232633 | OTOF | c.5993_*12del (n.[c.5993_*12del;Ter1998SerextTer?]) c.3512+621_3512+634del (n.3512+621_3512+634del) c.3752_*12del (n.[c.3752_*12del;Ter1251SerextTer?]) c.3692_*12del (n.[c.3692_*12del;Ter1231SerextTer?]) c.3923_*12del (n.[c.3923_*12del;Ter1308SerextTer?]) c.5813+621_5813+634del (n.5813+621_5813+634del) c.5798+621_5798+634del (n.5798+621_5798+634del) c.5858+621_5858+634del (n.5858+621_5858+634del) | gnomAD v4 |
| 2 | g.26460014G>A | CA2658232635 | OTOF | c.*11C>T (n.*11C>T) c.3512+633C>T (n.3512+633C>T) c.5813+633C>T (n.5813+633C>T) c.5798+633C>T (n.5798+633C>T) c.5858+633C>T (n.5858+633C>T) | gnomAD v4 |
| 2 | g.26460014G>T | CA2658232636 | OTOF | c.*11C>A (n.*11C>A) c.3512+633C>A (n.3512+633C>A) c.5813+633C>A (n.5813+633C>A) c.5798+633C>A (n.5798+633C>A) c.5858+633C>A (n.5858+633C>A) | gnomAD v4 |
| 2 | g.26460015G>A | CA2576698610 | OTOF | c.*10C>T (n.*10C>T) c.3512+632C>T (n.3512+632C>T) c.5813+632C>T (n.5813+632C>T) c.5798+632C>T (n.5798+632C>T) c.5858+632C>T (n.5858+632C>T) | gnomAD v4 |
| 2 | g.26460015G>T | CA2658232637 | OTOF | c.*10C>A (n.*10C>A) c.3512+632C>A (n.3512+632C>A) c.5813+632C>A (n.5813+632C>A) c.5798+632C>A (n.5798+632C>A) c.5858+632C>A (n.5858+632C>A) | gnomAD v4 |
| 2 | g.26460016C>A | CA2658232638 | OTOF | c.*9G>T (n.*9G>T) c.3512+631G>T (n.3512+631G>T) c.5813+631G>T (n.5813+631G>T) c.5798+631G>T (n.5798+631G>T) c.5858+631G>T (n.5858+631G>T) | gnomAD v4 |
| 2 | g.26460016C>G | CA2658232639 | OTOF | c.*9G>C (n.*9G>C) c.3512+631G>C (n.3512+631G>C) c.5813+631G>C (n.5813+631G>C) c.5798+631G>C (n.5798+631G>C) c.5858+631G>C (n.5858+631G>C) | gnomAD v4 |
| 2 | g.26460017C>A | CA2658232640 | OTOF | c.*8G>T (n.*8G>T) c.3512+630G>T (n.3512+630G>T) c.5813+630G>T (n.5813+630G>T) c.5798+630G>T (n.5798+630G>T) c.5858+630G>T (n.5858+630G>T) | gnomAD v4 |
| 2 | g.26460018A>G | CA2658232641 | OTOF | c.*7T>C (n.*7T>C) c.3512+629T>C (n.3512+629T>C) c.5813+629T>C (n.5813+629T>C) c.5798+629T>C (n.5798+629T>C) c.5858+629T>C (n.5858+629T>C) | gnomAD v4 |
| 2 | g.26460019C>A | CA2576698611 | OTOF | c.*6G>T (n.*6G>T) c.3512+628G>T (n.3512+628G>T) c.5813+628G>T (n.5813+628G>T) c.5798+628G>T (n.5798+628G>T) c.5858+628G>T (n.5858+628G>T) | gnomAD v4 |
| 2 | g.26460019C>G | CA2749240266 | OTOF | c.*6G>C (n.*6G>C) c.3512+628G>C (n.3512+628G>C) c.5813+628G>C (n.5813+628G>C) c.5798+628G>C (n.5798+628G>C) c.5858+628G>C (n.5858+628G>C) | |
| 2 | g.26460019C>T | CA2658232642 | OTOF | c.*6G>A (n.*6G>A) c.3512+628G>A (n.3512+628G>A) c.5813+628G>A (n.5813+628G>A) c.5798+628G>A (n.5798+628G>A) c.5858+628G>A (n.5858+628G>A) | gnomAD v4 |
| 2 | g.26460020T>G | CA1239823952 | OTOF | c.*5A>C (n.*5A>C) c.3512+627A>C (n.3512+627A>C) c.5813+627A>C (n.5813+627A>C) c.5798+627A>C (n.5798+627A>C) c.5858+627A>C (n.5858+627A>C) | dbSNP gnomAD v4 |
| 2 | g.26460020T= | CA1239823953 | OTOF | c.*5A= (n.*5A=) c.3512+627A= (n.3512+627A=) c.5813+627A= (n.5813+627A=) c.5798+627A= (n.5798+627A=) c.5858+627A= (n.5858+627A=) | |
| 2 | g.26460021G>A | CA2658232643 | OTOF | c.*4C>T (n.*4C>T) c.3512+626C>T (n.3512+626C>T) c.5813+626C>T (n.5813+626C>T) c.5798+626C>T (n.5798+626C>T) c.5858+626C>T (n.5858+626C>T) | gnomAD v4 |
| 2 | g.26460021G>T | CA2658232644 | OTOF | c.*4C>A (n.*4C>A) c.3512+626C>A (n.3512+626C>A) c.5813+626C>A (n.5813+626C>A) c.5798+626C>A (n.5798+626C>A) c.5858+626C>A (n.5858+626C>A) | gnomAD v4 |
| 2 | g.26460022G>A | CA531394702 | OTOF | c.*3C>T (n.*3C>T) c.3512+625C>T (n.3512+625C>T) c.5813+625C>T (n.5813+625C>T) c.5798+625C>T (n.5798+625C>T) c.5858+625C>T (n.5858+625C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.26460022G= | CA1239823954 | OTOF | c.*3C= (n.*3C=) c.3512+625C= (n.3512+625C=) c.5813+625C= (n.5813+625C=) c.5798+625C= (n.5798+625C=) c.5858+625C= (n.5858+625C=) | |
| 2 | g.26460023G>A | CA2658232646 | OTOF | c.*2C>T (n.*2C>T) c.3512+624C>T (n.3512+624C>T) c.5813+624C>T (n.5813+624C>T) c.5798+624C>T (n.5798+624C>T) c.5858+624C>T (n.5858+624C>T) | gnomAD v4 |
| 2 | g.26460023G>T | CA2658232645 | OTOF | c.*2C>A (n.*2C>A) c.3512+624C>A (n.3512+624C>A) c.5813+624C>A (n.5813+624C>A) c.5798+624C>A (n.5798+624C>A) c.5858+624C>A (n.5858+624C>A) | gnomAD v4 |
| 2 | g.26460024C>A | CA2658232648 | OTOF | c.*1G>T (n.*1G>T) c.3512+623G>T (n.3512+623G>T) c.5813+623G>T (n.5813+623G>T) c.5798+623G>T (n.5798+623G>T) c.5858+623G>T (n.5858+623G>T) | gnomAD v4 |
| 2 | g.26460024C>T | CA2658232647 | OTOF | c.*1G>A (n.*1G>A) c.3512+623G>A (n.3512+623G>A) c.5813+623G>A (n.5813+623G>A) c.5798+623G>A (n.5798+623G>A) c.5858+623G>A (n.5858+623G>A) | gnomAD v4 |
| 2 | g.26460025T>A | CA346127256 | OTOF | c.5994A>T (p.Ter1998Cys) c.3512+622A>T (n.3512+622A>T) c.3753A>T (p.Ter1251Cys) c.3693A>T (p.Ter1231Cys) c.3924A>T (p.Ter1308Cys) c.5813+622A>T (n.5813+622A>T) c.5798+622A>T (n.5798+622A>T) c.5858+622A>T (n.5858+622A>T) c.5934A>T (p.Ter1978Cys) | |
| 2 | g.26460025T>C | CA346127254 | OTOF | c.5994A>G (p.Ter1998Trp) c.3512+622A>G (n.3512+622A>G) c.3753A>G (p.Ter1251Trp) c.3693A>G (p.Ter1231Trp) c.3924A>G (p.Ter1308Trp) c.5813+622A>G (n.5813+622A>G) c.5798+622A>G (n.5798+622A>G) c.5858+622A>G (n.5858+622A>G) c.5934A>G (p.Ter1978Trp) | gnomAD v4 |
| 2 | g.26460025T>G | CA346127259 | OTOF | c.5994A>C (p.Ter1998Cys) c.3512+622A>C (n.3512+622A>C) c.3753A>C (p.Ter1251Cys) c.3693A>C (p.Ter1231Cys) c.3924A>C (p.Ter1308Cys) c.5813+622A>C (n.5813+622A>C) c.5798+622A>C (n.5798+622A>C) c.5858+622A>C (n.5858+622A>C) c.5934A>C (p.Ter1978Cys) | |
| 2 | g.26460026C>A | CA346127260 | OTOF | c.5993G>T (p.Ter1998Leu) c.3512+621G>T (n.3512+621G>T) c.3752G>T (p.Ter1251Leu) c.3692G>T (p.Ter1231Leu) c.3923G>T (p.Ter1308Leu) c.5813+621G>T (n.5813+621G>T) c.5798+621G>T (n.5798+621G>T) c.5858+621G>T (n.5858+621G>T) c.5933G>T (p.Ter1978Leu) | gnomAD v4 |
| 2 | g.26460026C= | CA1239823956 | OTOF | c.5993G= (p.Ter1998=) c.3512+621G= (n.3512+621G=) c.3752G= (p.Ter1251=) c.3692G= (p.Ter1231=) c.3923G= (p.Ter1308=) c.5813+621G= (n.5813+621G=) c.5798+621G= (n.5798+621G=) c.5858+621G= (n.5858+621G=) c.5933G= (p.Ter1978=) | |
| 2 | g.26460026C>G | CA346127264 | OTOF | c.5993G>C (p.Ter1998Ser) c.3512+621G>C (n.3512+621G>C) c.3752G>C (p.Ter1251Ser) c.3692G>C (p.Ter1231Ser) c.3923G>C (p.Ter1308Ser) c.5813+621G>C (n.5813+621G>C) c.5798+621G>C (n.5798+621G>C) c.5858+621G>C (n.5858+621G>C) c.5933G>C (p.Ter1978Ser) | |
| 2 | g.26460026C>T | CA44406130 | OTOF | c.5993G>A (p.Ter1998=) c.3512+621G>A (n.3512+621G>A) c.3752G>A (p.Ter1251=) c.3692G>A (p.Ter1231=) c.3923G>A (p.Ter1308=) c.5813+621G>A (n.5813+621G>A) c.5798+621G>A (n.5798+621G>A) c.5858+621G>A (n.5858+621G>A) c.5933G>A (p.Ter1978=) | dbSNP gnomAD v4 |
| 2 | g.26460027A= | CA1239823958 | OTOF | c.5992T= (p.Ter1998=) c.3512+620T= (n.3512+620T=) c.3751T= (p.Ter1251=) c.3691T= (p.Ter1231=) c.3922T= (p.Ter1308=) c.5813+620T= (n.5813+620T=) c.5798+620T= (n.5798+620T=) c.5858+620T= (n.5858+620T=) c.5932T= (p.Ter1978=) | |
| 2 | g.26460027A>C | CA346127267 | OTOF | c.5992T>G (p.Ter1998Gly) c.3512+620T>G (n.3512+620T>G) c.3751T>G (p.Ter1251Gly) c.3691T>G (p.Ter1231Gly) c.3922T>G (p.Ter1308Gly) c.5813+620T>G (n.5813+620T>G) c.5798+620T>G (n.5798+620T>G) c.5858+620T>G (n.5858+620T>G) c.5932T>G (p.Ter1978Gly) | gnomAD v4 |
| 2 | g.26460027A>G | CA346127269 | OTOF | c.5992T>C (p.Ter1998Arg) c.3512+620T>C (n.3512+620T>C) c.3751T>C (p.Ter1251Arg) c.3691T>C (p.Ter1231Arg) c.3922T>C (p.Ter1308Arg) c.5813+620T>C (n.5813+620T>C) c.5798+620T>C (n.5798+620T>C) c.5858+620T>C (n.5858+620T>C) c.5932T>C (p.Ter1978Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.26460027A>T | CA346127270 | OTOF | c.5992T>A (p.Ter1998Arg) c.3512+620T>A (n.3512+620T>A) c.3751T>A (p.Ter1251Arg) c.3691T>A (p.Ter1231Arg) c.3922T>A (p.Ter1308Arg) c.5813+620T>A (n.5813+620T>A) c.5798+620T>A (n.5798+620T>A) c.5858+620T>A (n.5858+620T>A) c.5932T>A (p.Ter1978Arg) | gnomAD v4 |
| 2 | g.26460028G>A | CA1562647 | OTOF | c.5991C>T (p.Ala1997=) c.3512+619C>T (n.3512+619C>T) c.3750C>T (p.Ala1250=) c.3690C>T (p.Ala1230=) c.3921C>T (p.Ala1307=) c.5813+619C>T (n.5813+619C>T) c.5798+619C>T (n.5798+619C>T) c.5858+619C>T (n.5858+619C>T) c.5931C>T (p.Ala1977=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26460028G>C | CA425206425 | OTOF | c.5991C>G (p.Ala1997=) c.3512+619C>G (n.3512+619C>G) c.3750C>G (p.Ala1250=) c.3690C>G (p.Ala1230=) c.3921C>G (p.Ala1307=) c.5813+619C>G (n.5813+619C>G) c.5798+619C>G (n.5798+619C>G) c.5858+619C>G (n.5858+619C>G) c.5931C>G (p.Ala1977=) | |
| 2 | g.26460028G= | CA1239823960 | OTOF | c.5991C= (p.Ala1997=) c.3512+619C= (n.3512+619C=) c.3750C= (p.Ala1250=) c.3690C= (p.Ala1230=) c.3921C= (p.Ala1307=) c.5813+619C= (n.5813+619C=) c.5798+619C= (n.5798+619C=) c.5858+619C= (n.5858+619C=) c.5931C= (p.Ala1977=) | |
| 2 | g.26460028G>T | CA425206426 | OTOF | c.5991C>A (p.Ala1997=) c.3512+619C>A (n.3512+619C>A) c.3750C>A (p.Ala1250=) c.3690C>A (p.Ala1230=) c.3921C>A (p.Ala1307=) c.5813+619C>A (n.5813+619C>A) c.5798+619C>A (n.5798+619C>A) c.5858+619C>A (n.5858+619C>A) c.5931C>A (p.Ala1977=) | gnomAD v4 |
| 2 | g.26460029G>A | CA346127271 | OTOF | c.5990C>T (p.Ala1997Val) c.3512+618C>T (n.3512+618C>T) c.3749C>T (p.Ala1250Val) c.3689C>T (p.Ala1230Val) c.3920C>T (p.Ala1307Val) c.5813+618C>T (n.5813+618C>T) c.5798+618C>T (n.5798+618C>T) c.5858+618C>T (n.5858+618C>T) c.5930C>T (p.Ala1977Val) | gnomAD v4 |
| 2 | g.26460029G>C | CA346127272 | OTOF | c.5990C>G (p.Ala1997Gly) c.3512+618C>G (n.3512+618C>G) c.3749C>G (p.Ala1250Gly) c.3689C>G (p.Ala1230Gly) c.3920C>G (p.Ala1307Gly) c.5813+618C>G (n.5813+618C>G) c.5798+618C>G (n.5798+618C>G) c.5858+618C>G (n.5858+618C>G) c.5930C>G (p.Ala1977Gly) | |
| 2 | g.26460029G= | CA1239823963 | OTOF | c.5990C= (p.Ala1997=) c.3512+618C= (n.3512+618C=) c.3749C= (p.Ala1250=) c.3689C= (p.Ala1230=) c.3920C= (p.Ala1307=) c.5813+618C= (n.5813+618C=) c.5798+618C= (n.5798+618C=) c.5858+618C= (n.5858+618C=) c.5930C= (p.Ala1977=) |