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.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.44147752T>A | CA367400612 | GCK | c.*759A>T (n.*759A>T) c.761A>T (p.Asn254Ile) c.764A>T (p.Asn255Ile) c.758A>T (p.Asn253Ile) c.710A>T (p.Asn237Ile) n.82+4T>A | |
| 7 | g.44147752T>C | CA367400613 | GCK | c.*759A>G (n.*759A>G) c.761A>G (p.Asn254Ser) c.764A>G (p.Asn255Ser) c.758A>G (p.Asn253Ser) c.710A>G (p.Asn237Ser) n.82+4T>C | |
| 7 | g.44147752T>G | CA367400614 | GCK | c.*759A>C (n.*759A>C) c.761A>C (p.Asn254Thr) c.764A>C (p.Asn255Thr) c.758A>C (p.Asn253Thr) c.710A>C (p.Asn237Thr) n.82+4T>G | |
| 7 | g.44147753T>A | CA367400616 | GCK | c.*758A>T (n.*758A>T) c.760A>T (p.Asn254Tyr) c.763A>T (p.Asn255Tyr) c.757A>T (p.Asn253Tyr) c.709A>T (p.Asn237Tyr) n.82+5T>A | |
| 7 | g.44147753T>C | CA367400615 | GCK | c.*758A>G (n.*758A>G) c.760A>G (p.Asn254Asp) c.763A>G (p.Asn255Asp) c.757A>G (p.Asn253Asp) c.709A>G (p.Asn237Asp) n.82+5T>C | |
| 7 | g.44147753T>G | CA213846 | GCK | c.*758A>C (n.*758A>C) c.760A>C (p.Asn254His) c.763A>C (p.Asn255His) c.757A>C (p.Asn253His) c.709A>C (p.Asn237His) n.82+5T>G | ClinVar dbSNP gnomAD v4 |
| 7 | g.44147753T= | CA1703634923 | GCK | c.*758A= (n.*758A=) c.760A= (p.Asn254=) c.763A= (p.Asn255=) c.757A= (p.Asn253=) c.709A= (p.Asn237=) n.82+5T= | |
| 7 | g.44147754G>A | CA454608723 | GCK | c.*757C>T (n.*757C>T) c.759C>T (p.Val253=) c.762C>T (p.Val254=) c.756C>T (p.Val252=) c.708C>T (p.Val236=) n.82+6G>A | dbSNP |
| 7 | g.44147754G>C | CA454608724 | GCK | c.*757C>G (n.*757C>G) c.759C>G (p.Val253=) c.762C>G (p.Val254=) c.756C>G (p.Val252=) c.708C>G (p.Val236=) n.82+6G>C | |
| 7 | g.44147754G= | CA1703634924 | GCK | c.*757C= (n.*757C=) c.759C= (p.Val253=) c.762C= (p.Val254=) c.756C= (p.Val252=) c.708C= (p.Val236=) n.82+6G= | |
| 7 | g.44147754G>T | CA454608725 | GCK | c.*757C>A (n.*757C>A) c.759C>A (p.Val253=) c.762C>A (p.Val254=) c.756C>A (p.Val252=) c.708C>A (p.Val236=) n.82+6G>T | |
| 7 | g.44147755A= | CA1703634925 | GCK | c.*756T= (n.*756T=) c.758T= (p.Val253=) c.761T= (p.Val254=) c.755T= (p.Val252=) c.707T= (p.Val236=) n.82+7A= | |
| 7 | g.44147755A>C | CA213844 | GCK | c.*756T>G (n.*756T>G) c.758T>G (p.Val253Gly) c.761T>G (p.Val254Gly) c.755T>G (p.Val252Gly) c.707T>G (p.Val236Gly) n.82+7A>C | ClinVar dbSNP |
| 7 | g.44147755A>G | CA213842 | GCK | c.*756T>C (n.*756T>C) c.758T>C (p.Val253Ala) c.761T>C (p.Val254Ala) c.755T>C (p.Val252Ala) c.707T>C (p.Val236Ala) n.82+7A>G | ClinVar dbSNP |
| 7 | g.44147755A>T | CA367400617 | GCK | c.*756T>A (n.*756T>A) c.758T>A (p.Val253Asp) c.761T>A (p.Val254Asp) c.755T>A (p.Val252Asp) c.707T>A (p.Val236Asp) n.82+7A>T | |
| 7 | g.44147756del | CA2695203108 | GCK | c.*755del (n.*755del) c.757del (p.Val253SerfsTer?) c.760del (p.Val254SerfsTer?) c.754del (p.Val252SerfsTer?) c.706del (p.Val236SerfsTer?) n.82+8del | |
| 7 | g.44147756C>A | CA367400618 | GCK | c.*755G>T (n.*755G>T) c.757G>T (p.Val253Phe) c.760G>T (p.Val254Phe) c.754G>T (p.Val252Phe) c.706G>T (p.Val236Phe) n.82+8C>A | ClinVar dbSNP |
| 7 | g.44147756C= | CA1703634926 | GCK | c.*755G= (n.*755G=) c.757G= (p.Val253=) c.760G= (p.Val254=) c.754G= (p.Val252=) c.706G= (p.Val236=) n.82+8C= | |
| 7 | g.44147756C>G | CA367400619 | GCK | c.*755G>C (n.*755G>C) c.757G>C (p.Val253Leu) c.760G>C (p.Val254Leu) c.754G>C (p.Val252Leu) c.706G>C (p.Val236Leu) n.82+8C>G | gnomAD v4 |
| 7 | g.44147756C>T | CA4239529 | GCK | c.*755G>A (n.*755G>A) c.757G>A (p.Val253Ile) c.760G>A (p.Val254Ile) c.754G>A (p.Val252Ile) c.706G>A (p.Val236Ile) n.82+8C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 7 | g.44147757G>A | CA4239530 | GCK | c.*754C>T (n.*754C>T) c.756C>T (p.Cys252=) c.759C>T (p.Cys253=) c.753C>T (p.Cys251=) c.705C>T (p.Cys235=) n.82+9G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44147757G>C | CA367400620 | GCK | c.*754C>G (n.*754C>G) c.756C>G (p.Cys252Trp) c.759C>G (p.Cys253Trp) c.753C>G (p.Cys251Trp) c.705C>G (p.Cys235Trp) n.82+9G>C | ClinVar |
| 7 | g.44147757G= | CA1703634927 | GCK | c.*754C= (n.*754C=) c.756C= (p.Cys252=) c.759C= (p.Cys253=) c.753C= (p.Cys251=) c.705C= (p.Cys235=) n.82+9G= | |
| 7 | g.44147757G>T | CA367400621 | GCK | c.*754C>A (n.*754C>A) c.756C>A (p.Cys252Ter) c.759C>A (p.Cys253Ter) c.753C>A (p.Cys251Ter) c.705C>A (p.Cys235Ter) n.82+9G>T | gnomAD v4 |
| 7 | g.44147758C>A | CA367400622 | GCK | c.*753G>T (n.*753G>T) c.755G>T (p.Cys252Phe) c.758G>T (p.Cys253Phe) c.752G>T (p.Cys251Phe) c.704G>T (p.Cys235Phe) n.82+10C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.44147758C= | CA1703634928 | GCK | c.*753G= (n.*753G=) c.755G= (p.Cys252=) c.758G= (p.Cys253=) c.752G= (p.Cys251=) c.704G= (p.Cys235=) n.82+10C= | |
| 7 | g.44147758C>G | CA367400623 | GCK | c.*753G>C (n.*753G>C) c.755G>C (p.Cys252Ser) c.758G>C (p.Cys253Ser) c.752G>C (p.Cys251Ser) c.704G>C (p.Cys235Ser) n.82+10C>G | |
| 7 | g.44147758C>T | CA367400624 | GCK | c.*753G>A (n.*753G>A) c.755G>A (p.Cys252Tyr) c.758G>A (p.Cys253Tyr) c.752G>A (p.Cys251Tyr) c.704G>A (p.Cys235Tyr) n.82+10C>T | gnomAD v4 |
| 7 | g.44147759A>C | CA367400627 | GCK | c.*752T>G (n.*752T>G) c.754T>G (p.Cys252Gly) c.757T>G (p.Cys253Gly) c.751T>G (p.Cys251Gly) c.703T>G (p.Cys235Gly) n.82+11A>C | |
| 7 | g.44147759A>G | CA367400626 | GCK | c.*752T>C (n.*752T>C) c.754T>C (p.Cys252Arg) c.757T>C (p.Cys253Arg) c.751T>C (p.Cys251Arg) c.703T>C (p.Cys235Arg) n.82+11A>G | |
| 7 | g.44147759A>T | CA367400625 | GCK | c.*752T>A (n.*752T>A) c.754T>A (p.Cys252Ser) c.757T>A (p.Cys253Ser) c.751T>A (p.Cys251Ser) c.703T>A (p.Cys235Ser) n.82+11A>T | |
| 7 | g.44147760C>A | CA367400628 | GCK | c.*751G>T (n.*751G>T) c.753G>T (p.Met251Ile) c.756G>T (p.Met252Ile) c.750G>T (p.Met250Ile) c.702G>T (p.Met234Ile) n.82+12C>A | |
| 7 | g.44147760C>G | CA367400630 | GCK | c.*751G>C (n.*751G>C) c.753G>C (p.Met251Ile) c.756G>C (p.Met252Ile) c.750G>C (p.Met250Ile) c.702G>C (p.Met234Ile) n.82+12C>G | |
| 7 | g.44147760C>T | CA367400629 | GCK | c.*751G>A (n.*751G>A) c.753G>A (p.Met251Ile) c.756G>A (p.Met252Ile) c.750G>A (p.Met250Ile) c.702G>A (p.Met234Ile) n.82+12C>T | ClinVar |
| 7 | g.44147761A= | CA1703634929 | GCK | c.*750T= (n.*750T=) c.752T= (p.Met251=) c.755T= (p.Met252=) c.749T= (p.Met250=) c.701T= (p.Met234=) n.82+13A= | |
| 7 | g.44147761A>C | CA367400631 | GCK | c.*750T>G (n.*750T>G) c.752T>G (p.Met251Arg) c.755T>G (p.Met252Arg) c.749T>G (p.Met250Arg) c.701T>G (p.Met234Arg) n.82+13A>C | |
| 7 | g.44147761A>G | CA213840 | GCK | c.*750T>C (n.*750T>C) c.752T>C (p.Met251Thr) c.755T>C (p.Met252Thr) c.749T>C (p.Met250Thr) c.701T>C (p.Met234Thr) n.82+13A>G | ClinVar dbSNP gnomAD v4 |
| 7 | g.44147761A>T | CA367400632 | GCK | c.*750T>A (n.*750T>A) c.752T>A (p.Met251Lys) c.755T>A (p.Met252Lys) c.749T>A (p.Met250Lys) c.701T>A (p.Met234Lys) n.82+13A>T | |
| 7 | g.44147762T>A | CA367400633 | GCK | c.*749A>T (n.*749A>T) c.751A>T (p.Met251Leu) c.754A>T (p.Met252Leu) c.748A>T (p.Met250Leu) c.700A>T (p.Met234Leu) n.82+14T>A | |
| 7 | g.44147762T>C | CA367400634 | GCK | c.*749A>G (n.*749A>G) c.751A>G (p.Met251Val) c.754A>G (p.Met252Val) c.748A>G (p.Met250Val) c.700A>G (p.Met234Val) n.82+14T>C | ClinVar dbSNP |
| 7 | g.44147762T>G | CA367400635 | GCK | c.*749A>C (n.*749A>C) c.751A>C (p.Met251Leu) c.754A>C (p.Met252Leu) c.748A>C (p.Met250Leu) c.700A>C (p.Met234Leu) n.82+14T>G | |
| 7 | g.44147763G>A | CA454608726 | GCK | c.*748C>T (n.*748C>T) c.750C>T (p.Arg250=) c.753C>T (p.Arg251=) c.747C>T (p.Arg249=) c.699C>T (p.Arg233=) n.82+15G>A | |
| 7 | g.44147763G>C | CA454608727 | GCK | c.*748C>G (n.*748C>G) c.750C>G (p.Arg250=) c.753C>G (p.Arg251=) c.747C>G (p.Arg249=) c.699C>G (p.Arg233=) n.82+15G>C | |
| 7 | g.44147763G>T | CA454608728 | GCK | c.*748C>A (n.*748C>A) c.750C>A (p.Arg250=) c.753C>A (p.Arg251=) c.747C>A (p.Arg249=) c.699C>A (p.Arg233=) n.82+15G>T | gnomAD v4 |
| 7 | g.44147764C>A | CA367400636 | GCK | c.*747G>T (n.*747G>T) c.749G>T (p.Arg250Leu) c.752G>T (p.Arg251Leu) c.746G>T (p.Arg249Leu) c.698G>T (p.Arg233Leu) n.82+16C>A | |
| 7 | g.44147764C= | CA1703634930 | GCK | c.*747G= (n.*747G=) c.749G= (p.Arg250=) c.752G= (p.Arg251=) c.746G= (p.Arg249=) c.698G= (p.Arg233=) n.82+16C= | |
| 7 | g.44147764C>G | CA367400637 | GCK | c.*747G>C (n.*747G>C) c.749G>C (p.Arg250Pro) c.752G>C (p.Arg251Pro) c.746G>C (p.Arg249Pro) c.698G>C (p.Arg233Pro) n.82+16C>G | ClinVar |
| 7 | g.44147764C>T | CA4239531 | GCK | c.*747G>A (n.*747G>A) c.749G>A (p.Arg250His) c.752G>A (p.Arg251His) c.746G>A (p.Arg249His) c.698G>A (p.Arg233His) n.82+16C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |