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 |
|---|---|---|---|---|---|
| 7 | g.44147702_44147809del | CA2695203087 | GCK | c.*707_*814del (n.*707_*814del) c.709_816del (p.Glu237_Glu272del) c.712_819del (p.Glu238_Glu273del) c.706_813del (p.Glu236_Glu271del) c.658_765del (p.Glu220_Glu255del) n.36_82+61del | |
| 7 | g.44147735_44147751dup | CA658655966 | GCK | c.*761_*777dup (n.*761_*777dup) c.763_779dup (p.Phe260LeufsTer33) c.766_782dup (p.Phe261LeufsTer?) c.763_779dup (p.Phe260LeufsTer?) c.760_776dup (p.Phe259LeufsTer?) c.712_728dup (p.Phe243LeufsTer?) n.69_82+3dup | ClinVar dbSNP |
| 7 | g.44147737_44147739del | CA2695203094 | GCK | c.*773_*775del (n.*773_*775del) c.775_777del (p.Ala259del) c.778_780del (p.Ala260del) c.772_774del (p.Ala258del) c.724_726del (p.Ala242del) n.71_73del | |
| 7 | g.44147739G>A | CA4239525 | GCK | c.*772C>T (n.*772C>T) c.774C>T (p.Gly258=) c.777C>T (p.Gly259=) c.771C>T (p.Gly257=) c.723C>T (p.Gly241=) n.73G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.44147739G>C | CA454608716 | GCK | c.*772C>G (n.*772C>G) c.774C>G (p.Gly258=) c.777C>G (p.Gly259=) c.771C>G (p.Gly257=) c.723C>G (p.Gly241=) n.73G>C | |
| 7 | g.44147739G= | CA1703634914 | GCK | c.*772C= (n.*772C=) c.774C= (p.Gly258=) c.777C= (p.Gly259=) c.771C= (p.Gly257=) c.723C= (p.Gly241=) n.73G= | |
| 7 | g.44147739G>T | CA454608717 | GCK | c.*772C>A (n.*772C>A) c.774C>A (p.Gly258=) c.777C>A (p.Gly259=) c.771C>A (p.Gly257=) c.723C>A (p.Gly241=) n.73G>T | |
| 7 | g.44147740C>A | CA367400585 | GCK | c.*771G>T (n.*771G>T) c.773G>T (p.Gly258Val) c.776G>T (p.Gly259Val) c.770G>T (p.Gly257Val) c.722G>T (p.Gly241Val) n.74C>A | |
| 7 | g.44147740C= | CA1703634915 | GCK | c.*771G= (n.*771G=) c.773G= (p.Gly258=) c.776G= (p.Gly259=) c.770G= (p.Gly257=) c.722G= (p.Gly241=) n.74C= | |
| 7 | g.44147740C>G | CA367400586 | GCK | c.*771G>C (n.*771G>C) c.773G>C (p.Gly258Ala) c.776G>C (p.Gly259Ala) c.770G>C (p.Gly257Ala) c.722G>C (p.Gly241Ala) n.74C>G | |
| 7 | g.44147740C>T | CA4239526 | GCK | c.*771G>A (n.*771G>A) c.773G>A (p.Gly258Asp) c.776G>A (p.Gly259Asp) c.770G>A (p.Gly257Asp) c.722G>A (p.Gly241Asp) n.74C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.44147743dup | CA2695203097 | GCK | c.*771dup (n.*771dup) c.773dup (p.Ala259ArgfsTer16) c.776dup (p.Ala260ArgfsTer16) c.770dup (p.Ala258ArgfsTer16) c.722dup (p.Ala242ArgfsTer16) n.77dup | |
| 7 | g.44147741C>A | CA367400587 | GCK | c.*770G>T (n.*770G>T) c.772G>T (p.Gly258Cys) c.775G>T (p.Gly259Cys) c.769G>T (p.Gly257Cys) c.721G>T (p.Gly241Cys) n.75C>A | ClinVar dbSNP |
| 7 | g.44147741C= | CA1703634916 | GCK | c.*770G= (n.*770G=) c.772G= (p.Gly258=) c.775G= (p.Gly259=) c.769G= (p.Gly257=) c.721G= (p.Gly241=) n.75C= | |
| 7 | g.44147741C>G | CA367400588 | GCK | c.*770G>C (n.*770G>C) c.772G>C (p.Gly258Arg) c.775G>C (p.Gly259Arg) c.769G>C (p.Gly257Arg) c.721G>C (p.Gly241Arg) n.75C>G | |
| 7 | g.44147741C>T | CA367400589 | GCK | c.*770G>A (n.*770G>A) c.772G>A (p.Gly258Ser) c.775G>A (p.Gly259Ser) c.769G>A (p.Gly257Ser) c.721G>A (p.Gly241Ser) n.75C>T | ClinVar dbSNP gnomAD v4 |
| 7 | g.44147742C>A | CA367400592 | GCK | c.*769G>T (n.*769G>T) c.771G>T (p.Trp257Cys) c.774G>T (p.Trp258Cys) c.768G>T (p.Trp256Cys) c.720G>T (p.Trp240Cys) n.76C>A | |
| 7 | g.44147742C>G | CA367400591 | GCK | c.*769G>C (n.*769G>C) c.771G>C (p.Trp257Cys) c.774G>C (p.Trp258Cys) c.768G>C (p.Trp256Cys) c.720G>C (p.Trp240Cys) n.76C>G | |
| 7 | g.44147742C>T | CA367400590 | GCK | c.*769G>A (n.*769G>A) c.771G>A (p.Trp257Ter) c.774G>A (p.Trp258Ter) c.768G>A (p.Trp256Ter) c.720G>A (p.Trp240Ter) n.76C>T | ClinVar dbSNP |
| 7 | g.44147743C>A | CA367400593 | GCK | c.*768G>T (n.*768G>T) c.770G>T (p.Trp257Leu) c.773G>T (p.Trp258Leu) c.767G>T (p.Trp256Leu) c.719G>T (p.Trp240Leu) n.77C>A | |
| 7 | g.44147743C= | CA1703634917 | GCK | c.*768G= (n.*768G=) c.770G= (p.Trp257=) c.773G= (p.Trp258=) c.767G= (p.Trp256=) c.719G= (p.Trp240=) n.77C= | |
| 7 | g.44147743C>G | CA367400594 | GCK | c.*768G>C (n.*768G>C) c.770G>C (p.Trp257Ser) c.773G>C (p.Trp258Ser) c.767G>C (p.Trp256Ser) c.719G>C (p.Trp240Ser) n.77C>G | ClinVar dbSNP |
| 7 | g.44147743C>T | CA367400595 | GCK | c.*768G>A (n.*768G>A) c.770G>A (p.Trp257Ter) c.773G>A (p.Trp258Ter) c.767G>A (p.Trp256Ter) c.719G>A (p.Trp240Ter) n.77C>T | ClinVar dbSNP |
| 7 | g.44147746_44147760del | CA2695203100 | GCK | c.*754_*768del (n.*754_*768del) c.756_770del (p.Cys252_Glu256del) c.759_773del (p.Cys253_Glu257del) c.753_767del (p.Cys251_Glu255del) c.705_719del (p.Cys235_Glu239del) n.80_82+12del | |
| 7 | g.44147744A= | CA1703634918 | GCK | c.*767T= (n.*767T=) c.769T= (p.Trp257=) c.772T= (p.Trp258=) c.766T= (p.Trp256=) c.718T= (p.Trp240=) n.78A= | |
| 7 | g.44147744A>C | CA367400596 | GCK | c.*767T>G (n.*767T>G) c.769T>G (p.Trp257Gly) c.772T>G (p.Trp258Gly) c.766T>G (p.Trp256Gly) c.718T>G (p.Trp240Gly) n.78A>C | |
| 7 | g.44147744A>G | CA367400597 | GCK | c.*767T>C (n.*767T>C) c.769T>C (p.Trp257Arg) c.772T>C (p.Trp258Arg) c.766T>C (p.Trp256Arg) c.718T>C (p.Trp240Arg) n.78A>G | ClinVar dbSNP |
| 7 | g.44147744A>T | CA367400598 | GCK | c.*767T>A (n.*767T>A) c.769T>A (p.Trp257Arg) c.772T>A (p.Trp258Arg) c.766T>A (p.Trp256Arg) c.718T>A (p.Trp240Arg) n.78A>T | |
| 7 | g.44147744dup | CA2695203102 | GCK | c.*767dup (n.*767dup) c.769dup (p.Trp257LeufsTer18) c.772dup (p.Trp258LeufsTer18) c.766dup (p.Trp256LeufsTer18) c.718dup (p.Trp240LeufsTer18) n.78dup | |
| 7 | g.44147745C>A | CA367400599 | GCK | c.*766G>T (n.*766G>T) c.768G>T (p.Glu256Asp) c.771G>T (p.Glu257Asp) c.765G>T (p.Glu255Asp) c.717G>T (p.Glu239Asp) n.79C>A | |
| 7 | g.44147745C= | CA1703634919 | GCK | c.*766G= (n.*766G=) c.768G= (p.Glu256=) c.771G= (p.Glu257=) c.765G= (p.Glu255=) c.717G= (p.Glu239=) n.79C= | |
| 7 | g.44147745C>G | CA213848 | GCK | c.*766G>C (n.*766G>C) c.768G>C (p.Glu256Asp) c.771G>C (p.Glu257Asp) c.765G>C (p.Glu255Asp) c.717G>C (p.Glu239Asp) n.79C>G | ClinVar dbSNP |
| 7 | g.44147745C>T | CA454608718 | GCK | c.*766G>A (n.*766G>A) c.768G>A (p.Glu256=) c.771G>A (p.Glu257=) c.765G>A (p.Glu255=) c.717G>A (p.Glu239=) n.79C>T | |
| 7 | g.44147746T>A | CA367400600 | GCK | c.*765A>T (n.*765A>T) c.767A>T (p.Glu256Val) c.770A>T (p.Glu257Val) c.764A>T (p.Glu255Val) c.716A>T (p.Glu239Val) n.80T>A | |
| 7 | g.44147746T>C | CA367400601 | GCK | c.*765A>G (n.*765A>G) c.767A>G (p.Glu256Gly) c.770A>G (p.Glu257Gly) c.764A>G (p.Glu255Gly) c.716A>G (p.Glu239Gly) n.80T>C | |
| 7 | g.44147746T>G | CA367400602 | GCK | c.*765A>C (n.*765A>C) c.767A>C (p.Glu256Ala) c.770A>C (p.Glu257Ala) c.764A>C (p.Glu255Ala) c.716A>C (p.Glu239Ala) n.80T>G | |
| 7 | g.44147747_44147750dup | CA2695203103 | GCK | c.*762_*765dup (n.*762_*765dup) c.764_767dup (p.Glu256AspfsTer20) c.767_770dup (p.Glu257AspfsTer20) c.761_764dup (p.Glu255AspfsTer20) c.713_716dup (p.Glu239AspfsTer20) n.81_82+2dup | |
| 7 | g.44147747C>A | CA367400603 | GCK | c.*764G>T (n.*764G>T) c.766G>T (p.Glu256Ter) c.769G>T (p.Glu257Ter) c.763G>T (p.Glu255Ter) c.715G>T (p.Glu239Ter) n.81C>A | ClinVar |
| 7 | g.44147747C= | CA1703634920 | GCK | c.*764G= (n.*764G=) c.766G= (p.Glu256=) c.769G= (p.Glu257=) c.763G= (p.Glu255=) c.715G= (p.Glu239=) n.81C= | |
| 7 | g.44147747C>G | CA16618468 | GCK | c.*764G>C (n.*764G>C) c.766G>C (p.Glu256Gln) c.769G>C (p.Glu257Gln) c.763G>C (p.Glu255Gln) c.715G>C (p.Glu239Gln) n.81C>G | ClinVar dbSNP |
| 7 | g.44147747C>T | CA4239527 | GCK | c.*764G>A (n.*764G>A) c.766G>A (p.Glu256Lys) c.769G>A (p.Glu257Lys) c.763G>A (p.Glu255Lys) c.715G>A (p.Glu239Lys) n.81C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.44147748G>A | CA4239528 | GCK | c.*763C>T (n.*763C>T) c.765C>T (p.Thr255=) c.768C>T (p.Thr256=) c.762C>T (p.Thr254=) c.714C>T (p.Thr238=) n.82G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44147748G>C | CA454608720 | GCK | c.*763C>G (n.*763C>G) c.765C>G (p.Thr255=) c.768C>G (p.Thr256=) c.762C>G (p.Thr254=) c.714C>G (p.Thr238=) n.82G>C | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.44147748G= | CA1703634921 | GCK | c.*763C= (n.*763C=) c.765C= (p.Thr255=) c.768C= (p.Thr256=) c.762C= (p.Thr254=) c.714C= (p.Thr238=) n.82G= | |
| 7 | g.44147748G>T | CA454608721 | GCK | c.*763C>A (n.*763C>A) c.765C>A (p.Thr255=) c.768C>A (p.Thr256=) c.762C>A (p.Thr254=) c.714C>A (p.Thr238=) n.82G>T | |
| 7 | g.44147749G>A | CA367400604 | GCK | c.*762C>T (n.*762C>T) c.764C>T (p.Thr255Ile) c.767C>T (p.Thr256Ile) c.761C>T (p.Thr254Ile) c.713C>T (p.Thr238Ile) n.82+1G>A | |
| 7 | g.44147749G>C | CA367400605 | GCK | c.*762C>G (n.*762C>G) c.764C>G (p.Thr255Ser) c.767C>G (p.Thr256Ser) c.761C>G (p.Thr254Ser) c.713C>G (p.Thr238Ser) n.82+1G>C | |
| 7 | g.44147749G>T | CA367400606 | GCK | c.*762C>A (n.*762C>A) c.764C>A (p.Thr255Asn) c.767C>A (p.Thr256Asn) c.761C>A (p.Thr254Asn) c.713C>A (p.Thr238Asn) n.82+1G>T | |
| 7 | g.44147750T>A | CA367400607 | GCK | c.*761A>T (n.*761A>T) c.763A>T (p.Thr255Ser) c.766A>T (p.Thr256Ser) c.760A>T (p.Thr254Ser) c.712A>T (p.Thr238Ser) n.82+2T>A | |
| 7 | g.44147750T>C | CA367400608 | GCK | c.*761A>G (n.*761A>G) c.763A>G (p.Thr255Ala) c.766A>G (p.Thr256Ala) c.760A>G (p.Thr254Ala) c.712A>G (p.Thr238Ala) n.82+2T>C | ClinVar dbSNP |