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.44153381_44153403del | CA2695203024 | GCK | c.*107_*129del (n.*107_*129del) c.109_131del (p.Met37ProfsTer7) n.595_617del c.112_134del (p.Met38ProfsTer7) c.106_128del (p.Met36ProfsTer7) | |
| 7 | g.44153402C>A | CA367403558 | GCK | c.*105G>T (n.*105G>T) c.107G>T (p.Arg36Leu) n.593G>T c.110G>T (p.Arg37Leu) c.104G>T (p.Arg35Leu) n.542G>T | |
| 7 | g.44153402C= | CA1703637563 | GCK | c.*105G= (n.*105G=) c.107G= (p.Arg36=) n.593G= c.110G= (p.Arg37=) c.104G= (p.Arg35=) n.542G= | |
| 7 | g.44153402C>G | CA213709 | GCK | c.*105G>C (n.*105G>C) c.107G>C (p.Arg36Pro) n.593G>C c.110G>C (p.Arg37Pro) c.104G>C (p.Arg35Pro) n.542G>C | ClinVar dbSNP |
| 7 | g.44153402C>T | CA367403564 | GCK | c.*105G>A (n.*105G>A) c.107G>A (p.Arg36Gln) n.593G>A c.110G>A (p.Arg37Gln) c.104G>A (p.Arg35Gln) n.542G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 7 | g.44153403G>A | CA4239720 | GCK | c.*104C>T (n.*104C>T) c.106C>T (p.Arg36Trp) n.592C>T c.109C>T (p.Arg37Trp) c.103C>T (p.Arg35Trp) n.541C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 7 | g.44153403G>C | CA367403568 | GCK | c.*104C>G (n.*104C>G) c.106C>G (p.Arg36Gly) n.592C>G c.109C>G (p.Arg37Gly) c.103C>G (p.Arg35Gly) n.541C>G | |
| 7 | g.44153403G= | CA1703637564 | GCK | c.*104C= (n.*104C=) c.106C= (p.Arg36=) n.592C= c.109C= (p.Arg37=) c.103C= (p.Arg35=) n.541C= | |
| 7 | g.44153403G>T | CA454610627 | GCK | c.*104C>A (n.*104C>A) c.106C>A (p.Arg36=) n.592C>A c.109C>A (p.Arg37=) c.103C>A (p.Arg35=) n.541C>A | gnomAD v4 |
| 7 | g.44153404T>A | CA367403569 | GCK | c.*103A>T (n.*103A>T) c.105A>T (p.Arg35Ser) n.591A>T c.108A>T (p.Arg36Ser) c.102A>T (p.Arg34Ser) n.540A>T | |
| 7 | g.44153404T>C | CA454610629 | GCK | c.*103A>G (n.*103A>G) c.105A>G (p.Arg35=) n.591A>G c.108A>G (p.Arg36=) c.102A>G (p.Arg34=) n.540A>G | |
| 7 | g.44153404T>G | CA367403571 | GCK | c.*103A>C (n.*103A>C) c.105A>C (p.Arg35Ser) n.591A>C c.108A>C (p.Arg36Ser) c.102A>C (p.Arg34Ser) n.540A>C | |
| 7 | g.44153405C>A | CA367403573 | GCK | c.*102G>T (n.*102G>T) c.104G>T (p.Arg35Ile) n.590G>T c.107G>T (p.Arg36Ile) c.101G>T (p.Arg34Ile) n.539G>T | |
| 7 | g.44153405C= | CA1703637565 | GCK | c.*102G= (n.*102G=) c.104G= (p.Arg35=) n.590G= c.107G= (p.Arg36=) c.101G= (p.Arg34=) n.539G= | |
| 7 | g.44153405C>G | CA367403576 | GCK | c.*102G>C (n.*102G>C) c.104G>C (p.Arg35Thr) n.590G>C c.107G>C (p.Arg36Thr) c.101G>C (p.Arg34Thr) n.539G>C | gnomAD v4 |
| 7 | g.44153405C>T | CA367403578 | GCK | c.*102G>A (n.*102G>A) c.104G>A (p.Arg35Lys) n.590G>A c.107G>A (p.Arg36Lys) c.101G>A (p.Arg34Lys) n.539G>A | dbSNP gnomAD v2 |
| 7 | g.44153406T>A | CA213705 | GCK | c.*101A>T (n.*101A>T) c.103A>T (p.Arg35Ter) n.589A>T c.106A>T (p.Arg36Ter) c.100A>T (p.Arg34Ter) n.538A>T | ClinVar dbSNP |
| 7 | g.44153406T>C | CA367403581 | GCK | c.*101A>G (n.*101A>G) c.103A>G (p.Arg35Gly) n.589A>G c.106A>G (p.Arg36Gly) c.100A>G (p.Arg34Gly) n.538A>G | |
| 7 | g.44153406T>G | CA454610630 | GCK | c.*101A>C (n.*101A>C) c.103A>C (p.Arg35=) n.589A>C c.106A>C (p.Arg36=) c.100A>C (p.Arg34=) n.538A>C | |
| 7 | g.44153406T= | CA1703637566 | GCK | c.*101A= (n.*101A=) c.103A= (p.Arg35=) n.589A= c.106A= (p.Arg36=) c.100A= (p.Arg34=) n.538A= | |
| 7 | g.44153407C>A | CA367403583 | GCK | c.*100G>T (n.*100G>T) c.102G>T (p.Met34Ile) n.588G>T c.105G>T (p.Met35Ile) c.99G>T (p.Met33Ile) n.537G>T | |
| 7 | g.44153407C= | CA1703637567 | GCK | c.*100G= (n.*100G=) c.102G= (p.Met34=) n.588G= c.105G= (p.Met35=) c.99G= (p.Met33=) n.537G= | |
| 7 | g.44153407C>G | CA367403585 | GCK | c.*100G>C (n.*100G>C) c.102G>C (p.Met34Ile) n.588G>C c.105G>C (p.Met35Ile) c.99G>C (p.Met33Ile) n.537G>C | |
| 7 | g.44153407C>T | CA367403586 | GCK | c.*100G>A (n.*100G>A) c.102G>A (p.Met34Ile) n.588G>A c.105G>A (p.Met35Ile) c.99G>A (p.Met33Ile) n.537G>A | ClinVar dbSNP |
| 7 | g.44153408A>C | CA367403589 | GCK | c.*99T>G (n.*99T>G) c.101T>G (p.Met34Arg) n.587T>G c.104T>G (p.Met35Arg) c.98T>G (p.Met33Arg) n.536T>G | |
| 7 | g.44153408A>G | CA367403591 | GCK | c.*99T>C (n.*99T>C) c.101T>C (p.Met34Thr) n.587T>C c.104T>C (p.Met35Thr) c.98T>C (p.Met33Thr) n.536T>C | gnomAD v4 |
| 7 | g.44153408A>T | CA367403593 | GCK | c.*99T>A (n.*99T>A) c.101T>A (p.Met34Lys) n.587T>A c.104T>A (p.Met35Lys) c.98T>A (p.Met33Lys) n.536T>A | |
| 7 | g.44153409T>A | CA367403601 | GCK | c.*98A>T (n.*98A>T) c.100A>T (p.Met34Leu) n.586A>T c.103A>T (p.Met35Leu) c.97A>T (p.Met33Leu) n.535A>T | |
| 7 | g.44153409T>C | CA367403596 | GCK | c.*98A>G (n.*98A>G) c.100A>G (p.Met34Val) n.586A>G c.103A>G (p.Met35Val) c.97A>G (p.Met33Val) n.535A>G | |
| 7 | g.44153409T>G | CA367403598 | GCK | c.*98A>C (n.*98A>C) c.100A>C (p.Met34Leu) n.586A>C c.103A>C (p.Met35Leu) c.97A>C (p.Met33Leu) n.535A>C | |
| 7 | g.44153410C>A | CA454610633 | GCK | c.*97G>T (n.*97G>T) c.99G>T (p.Val33=) n.585G>T c.102G>T (p.Val34=) c.96G>T (p.Val32=) n.534G>T | |
| 7 | g.44153410C= | CA1703637568 | GCK | c.*97G= (n.*97G=) c.99G= (p.Val33=) n.585G= c.102G= (p.Val34=) c.96G= (p.Val32=) n.534G= | |
| 7 | g.44153410C>G | CA454610634 | GCK | c.*97G>C (n.*97G>C) c.99G>C (p.Val33=) n.585G>C c.102G>C (p.Val34=) c.96G>C (p.Val32=) n.534G>C | |
| 7 | g.44153410C>T | CA157920076 | GCK | c.*97G>A (n.*97G>A) c.99G>A (p.Val33=) n.585G>A c.102G>A (p.Val34=) c.96G>A (p.Val32=) n.534G>A | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.44153411A= | CA1703637569 | GCK | c.*96T= (n.*96T=) c.98T= (p.Val33=) n.584T= c.101T= (p.Val34=) c.95T= (p.Val32=) n.533T= | |
| 7 | g.44153411A>C | CA367403603 | GCK | c.*96T>G (n.*96T>G) c.98T>G (p.Val33Gly) n.584T>G c.101T>G (p.Val34Gly) c.95T>G (p.Val32Gly) n.533T>G | ClinVar dbSNP |
| 7 | g.44153411A>G | CA367403604 | GCK | c.*96T>C (n.*96T>C) c.98T>C (p.Val33Ala) n.584T>C c.101T>C (p.Val34Ala) c.95T>C (p.Val32Ala) n.533T>C | ClinVar dbSNP |
| 7 | g.44153411A>T | CA367403606 | GCK | c.*96T>A (n.*96T>A) c.98T>A (p.Val33Glu) n.584T>A c.101T>A (p.Val34Glu) c.95T>A (p.Val32Glu) n.533T>A | ClinVar dbSNP |
| 7 | g.44153412C>A | CA367403609 | GCK | c.*95G>T (n.*95G>T) c.97G>T (p.Val33Leu) n.583G>T c.100G>T (p.Val34Leu) c.94G>T (p.Val32Leu) n.532G>T | gnomAD v4 |
| 7 | g.44153412C>G | CA367403611 | GCK | c.*95G>C (n.*95G>C) c.97G>C (p.Val33Leu) n.583G>C c.100G>C (p.Val34Leu) c.94G>C (p.Val32Leu) n.532G>C | |
| 7 | g.44153412C>T | CA367403613 | GCK | c.*95G>A (n.*95G>A) c.97G>A (p.Val33Met) n.583G>A c.100G>A (p.Val34Met) c.94G>A (p.Val32Met) n.532G>A | |
| 7 | g.44153413C>A | CA367403615 | GCK | c.*94G>T (n.*94G>T) c.96G>T (p.Lys32Asn) n.582G>T c.99G>T (p.Lys33Asn) c.93G>T (p.Lys31Asn) n.531G>T | |
| 7 | g.44153413C>G | CA367403617 | GCK | c.*94G>C (n.*94G>C) c.96G>C (p.Lys32Asn) n.582G>C c.99G>C (p.Lys33Asn) c.93G>C (p.Lys31Asn) n.531G>C | |
| 7 | g.44153413C>T | CA454610639 | GCK | c.*94G>A (n.*94G>A) c.96G>A (p.Lys32=) n.582G>A c.99G>A (p.Lys33=) c.93G>A (p.Lys31=) n.531G>A | gnomAD v4 |
| 7 | g.44153417_44153419del | CA2695203029 | GCK | c.*92_*94del (n.*92_*94del) c.94_96del (p.Lys32del) n.580_582del c.97_99del (p.Lys33del) c.91_93del (p.Lys31del) n.529_531del | |
| 7 | g.44153414T>A | CA367403619 | GCK | c.*93A>T (n.*93A>T) c.95A>T (p.Lys32Met) n.581A>T c.98A>T (p.Lys33Met) c.92A>T (p.Lys31Met) n.530A>T | |
| 7 | g.44153414T>C | CA367403622 | GCK | c.*93A>G (n.*93A>G) c.95A>G (p.Lys32Arg) n.581A>G c.98A>G (p.Lys33Arg) c.92A>G (p.Lys31Arg) n.530A>G | |
| 7 | g.44153414T>G | CA367403624 | GCK | c.*93A>C (n.*93A>C) c.95A>C (p.Lys32Thr) n.581A>C c.98A>C (p.Lys33Thr) c.92A>C (p.Lys31Thr) n.530A>C | |
| 7 | g.44153415T>A | CA367403626 | GCK | c.*92A>T (n.*92A>T) c.94A>T (p.Lys32Ter) n.580A>T c.97A>T (p.Lys33Ter) c.91A>T (p.Lys31Ter) n.529A>T | |
| 7 | g.44153415T>C | CA367403628 | GCK | c.*92A>G (n.*92A>G) c.94A>G (p.Lys32Glu) n.580A>G c.97A>G (p.Lys33Glu) c.91A>G (p.Lys31Glu) n.529A>G | gnomAD v4 |