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.44146464_44146482del | CA2682585935 | GCK | c.*998_*1016del (n.*998_*1016del) c.*120_*138del (n.*120_*138del) n.226_244del c.1003_1021del (p.Phe335AlafsTer13) c.1000_1018del (p.Phe334AlafsTer13) c.1063_1081del (p.Phe355AlafsTer13) c.997_1015del (p.Phe333AlafsTer13) c.949_967del (p.Phe317AlafsTer13) n.298_316del c.8+137_8+155del (n.8+137_8+155del) | gnomAD v4 |
| 7 | g.44146471C>A | CA367399709 | GCK | c.*1009G>T (n.*1009G>T) c.*131G>T (n.*131G>T) n.237G>T c.1014G>T (p.Gln338His) c.1011G>T (p.Gln337His) c.1074G>T (p.Gln358His) c.1008G>T (p.Gln336His) c.960G>T (p.Gln320His) n.309G>T c.8+148G>T (n.8+148G>T) | gnomAD v4 COSMIC COSMIC |
| 7 | g.44146471C>G | CA367399710 | GCK | c.*1009G>C (n.*1009G>C) c.*131G>C (n.*131G>C) n.237G>C c.1014G>C (p.Gln338His) c.1011G>C (p.Gln337His) c.1074G>C (p.Gln358His) c.1008G>C (p.Gln336His) c.960G>C (p.Gln320His) n.309G>C c.8+148G>C (n.8+148G>C) | |
| 7 | g.44146471C>T | CA454607720 | GCK | c.*1009G>A (n.*1009G>A) c.*131G>A (n.*131G>A) n.237G>A c.1014G>A (p.Gln338=) c.1011G>A (p.Gln337=) c.1074G>A (p.Gln358=) c.1008G>A (p.Gln336=) c.960G>A (p.Gln320=) n.309G>A c.8+148G>A (n.8+148G>A) | gnomAD v4 |
| 7 | g.44146472del | CA2695203060 | GCK | c.*1008del (n.*1008del) c.*130del (n.*130del) n.236del c.1013del (p.Gln338ArgfsTer16) c.1010del (p.Gln337ArgfsTer16) c.1073del (p.Gln358ArgfsTer16) c.1007del (p.Gln336ArgfsTer16) c.959del (p.Gln320ArgfsTer16) n.308del c.8+147del (n.8+147del) | |
| 7 | g.44146472T>A | CA367399712 | GCK | c.*1008A>T (n.*1008A>T) c.*130A>T (n.*130A>T) n.236A>T c.1013A>T (p.Gln338Leu) c.1010A>T (p.Gln337Leu) c.1073A>T (p.Gln358Leu) c.1007A>T (p.Gln336Leu) c.959A>T (p.Gln320Leu) n.308A>T c.8+147A>T (n.8+147A>T) | gnomAD v4 |
| 7 | g.44146472T>C | CA367399715 | GCK | c.*1008A>G (n.*1008A>G) c.*130A>G (n.*130A>G) n.236A>G c.1013A>G (p.Gln338Arg) c.1010A>G (p.Gln337Arg) c.1073A>G (p.Gln358Arg) c.1007A>G (p.Gln336Arg) c.959A>G (p.Gln320Arg) n.308A>G c.8+147A>G (n.8+147A>G) | |
| 7 | g.44146472T>G | CA367399714 | GCK | c.*1008A>C (n.*1008A>C) c.*130A>C (n.*130A>C) n.236A>C c.1013A>C (p.Gln338Pro) c.1010A>C (p.Gln337Pro) c.1073A>C (p.Gln358Pro) c.1007A>C (p.Gln336Pro) c.959A>C (p.Gln320Pro) n.308A>C c.8+147A>C (n.8+147A>C) | |
| 7 | g.44146473G>A | CA367399716 | GCK | c.*1007C>T (n.*1007C>T) c.*129C>T (n.*129C>T) n.235C>T c.1012C>T (p.Gln338Ter) c.1009C>T (p.Gln337Ter) c.1072C>T (p.Gln358Ter) c.1006C>T (p.Gln336Ter) c.958C>T (p.Gln320Ter) n.307C>T c.8+146C>T (n.8+146C>T) | |
| 7 | g.44146473G>C | CA367399717 | GCK | c.*1007C>G (n.*1007C>G) c.*129C>G (n.*129C>G) n.235C>G c.1012C>G (p.Gln338Glu) c.1009C>G (p.Gln337Glu) c.1072C>G (p.Gln358Glu) c.1006C>G (p.Gln336Glu) c.958C>G (p.Gln320Glu) n.307C>G c.8+146C>G (n.8+146C>G) | |
| 7 | g.44146473G>T | CA367399719 | GCK | c.*1007C>A (n.*1007C>A) c.*129C>A (n.*129C>A) n.235C>A c.1012C>A (p.Gln338Lys) c.1009C>A (p.Gln337Lys) c.1072C>A (p.Gln358Lys) c.1006C>A (p.Gln336Lys) c.958C>A (p.Gln320Lys) n.307C>A c.8+146C>A (n.8+146C>A) | |
| 7 | g.44146474C>A | CA454607724 | GCK | c.*1006G>T (n.*1006G>T) c.*128G>T (n.*128G>T) n.234G>T c.1011G>T (p.Ser337=) c.1008G>T (p.Ser336=) c.1071G>T (p.Ser357=) c.1005G>T (p.Ser335=) c.957G>T (p.Ser319=) n.306G>T c.8+145G>T (n.8+145G>T) | |
| 7 | g.44146474C>G | CA454607725 | GCK | c.*1006G>C (n.*1006G>C) c.*128G>C (n.*128G>C) n.234G>C c.1011G>C (p.Ser337=) c.1008G>C (p.Ser336=) c.1071G>C (p.Ser357=) c.1005G>C (p.Ser335=) c.957G>C (p.Ser319=) n.306G>C c.8+145G>C (n.8+145G>C) | |
| 7 | g.44146474C>T | CA454607726 | GCK | c.*1006G>A (n.*1006G>A) c.*128G>A (n.*128G>A) n.234G>A c.1011G>A (p.Ser337=) c.1008G>A (p.Ser336=) c.1071G>A (p.Ser357=) c.1005G>A (p.Ser335=) c.957G>A (p.Ser319=) n.306G>A c.8+145G>A (n.8+145G>A) | gnomAD v4 |
| 7 | g.44146475G>A | CA367399721 | GCK | c.*1005C>T (n.*1005C>T) c.*127C>T (n.*127C>T) n.233C>T c.1010C>T (p.Ser337Leu) c.1007C>T (p.Ser336Leu) c.1070C>T (p.Ser357Leu) c.1004C>T (p.Ser335Leu) c.956C>T (p.Ser319Leu) n.305C>T c.8+144C>T (n.8+144C>T) | |
| 7 | g.44146475G>C | CA367399723 | GCK | c.*1005C>G (n.*1005C>G) c.*127C>G (n.*127C>G) n.233C>G c.1010C>G (p.Ser337Trp) c.1007C>G (p.Ser336Trp) c.1070C>G (p.Ser357Trp) c.1004C>G (p.Ser335Trp) c.956C>G (p.Ser319Trp) n.305C>G c.8+144C>G (n.8+144C>G) | |
| 7 | g.44146475G>T | CA367399724 | GCK | c.*1005C>A (n.*1005C>A) c.*127C>A (n.*127C>A) n.233C>A c.1010C>A (p.Ser337Ter) c.1007C>A (p.Ser336Ter) c.1070C>A (p.Ser357Ter) c.1004C>A (p.Ser335Ter) c.956C>A (p.Ser319Ter) n.305C>A c.8+144C>A (n.8+144C>A) | ClinVar gnomAD v4 |
| 7 | g.44146476A>C | CA367399725 | GCK | c.*1004T>G (n.*1004T>G) c.*126T>G (n.*126T>G) n.232T>G c.1009T>G (p.Ser337Ala) c.1006T>G (p.Ser336Ala) c.1069T>G (p.Ser357Ala) c.1003T>G (p.Ser335Ala) c.955T>G (p.Ser319Ala) n.304T>G c.8+143T>G (n.8+143T>G) | |
| 7 | g.44146476A>G | CA367399727 | GCK | c.*1004T>C (n.*1004T>C) c.*126T>C (n.*126T>C) n.232T>C c.1009T>C (p.Ser337Pro) c.1006T>C (p.Ser336Pro) c.1069T>C (p.Ser357Pro) c.1003T>C (p.Ser335Pro) c.955T>C (p.Ser319Pro) n.304T>C c.8+143T>C (n.8+143T>C) | |
| 7 | g.44146476A>T | CA367399729 | GCK | c.*1004T>A (n.*1004T>A) c.*126T>A (n.*126T>A) n.232T>A c.1009T>A (p.Ser337Thr) c.1006T>A (p.Ser336Thr) c.1069T>A (p.Ser357Thr) c.1003T>A (p.Ser335Thr) c.955T>A (p.Ser319Thr) n.304T>A c.8+143T>A (n.8+143T>A) | |
| 7 | g.44146477C>A | CA454607731 | GCK | c.*1003G>T (n.*1003G>T) c.*125G>T (n.*125G>T) n.231G>T c.1008G>T (p.Val336=) c.1005G>T (p.Val335=) c.1068G>T (p.Val356=) c.1002G>T (p.Val334=) c.954G>T (p.Val318=) n.303G>T c.8+142G>T (n.8+142G>T) | |
| 7 | g.44146477C>G | CA454607734 | GCK | c.*1003G>C (n.*1003G>C) c.*125G>C (n.*125G>C) n.231G>C c.1008G>C (p.Val336=) c.1005G>C (p.Val335=) c.1068G>C (p.Val356=) c.1002G>C (p.Val334=) c.954G>C (p.Val318=) n.303G>C c.8+142G>C (n.8+142G>C) | |
| 7 | g.44146477C>T | CA454607733 | GCK | c.*1003G>A (n.*1003G>A) c.*125G>A (n.*125G>A) n.231G>A c.1008G>A (p.Val336=) c.1005G>A (p.Val335=) c.1068G>A (p.Val356=) c.1002G>A (p.Val334=) c.954G>A (p.Val318=) n.303G>A c.8+142G>A (n.8+142G>A) | |
| 7 | g.44146478A= | CA1703613458 | GCK | c.*1002T= (n.*1002T=) c.*124T= (n.*124T=) n.230T= c.1007T= (p.Val336=) c.1004T= (p.Val335=) c.1067T= (p.Val356=) c.1001T= (p.Val334=) c.953T= (p.Val318=) n.302T= c.8+141T= (n.8+141T=) | |
| 7 | g.44146478A>C | CA367399730 | GCK | c.*1002T>G (n.*1002T>G) c.*124T>G (n.*124T>G) n.230T>G c.1007T>G (p.Val336Gly) c.1004T>G (p.Val335Gly) c.1067T>G (p.Val356Gly) c.1001T>G (p.Val334Gly) c.953T>G (p.Val318Gly) n.302T>G c.8+141T>G (n.8+141T>G) | |
| 7 | g.44146478A>G | CA367399732 | GCK | c.*1002T>C (n.*1002T>C) c.*124T>C (n.*124T>C) n.230T>C c.1007T>C (p.Val336Ala) c.1004T>C (p.Val335Ala) c.1067T>C (p.Val356Ala) c.1001T>C (p.Val334Ala) c.953T>C (p.Val318Ala) n.302T>C c.8+141T>C (n.8+141T>C) | gnomAD v4 |
| 7 | g.44146478A>T | CA367399733 | GCK | c.*1002T>A (n.*1002T>A) c.*124T>A (n.*124T>A) n.230T>A c.1007T>A (p.Val336Glu) c.1004T>A (p.Val335Glu) c.1067T>A (p.Val356Glu) c.1001T>A (p.Val334Glu) c.953T>A (p.Val318Glu) n.302T>A c.8+141T>A (n.8+141T>A) | ClinVar |
| 7 | g.44146478_44146479delinsAC | CA1703613459 | GCK | c.*1001_*1002delinsGT (n.*1001_*1002delinsGT) c.*123_*124delinsGT (n.*123_*124delinsGT) n.229_230delinsGT c.1006_1007delinsGT (p.Val336=) c.1003_1004delinsGT (p.Val335=) c.1066_1067delinsGT (p.Val356=) c.1000_1001delinsGT (p.Val334=) c.952_953delinsGT (p.Val318=) n.301_302delinsGT c.8+140_8+141delinsGT (n.8+140_8+141delinsGT) | |
| 7 | g.44146478_44146479insTT | CA213698 | GCK | c.*1001_*1002insAA (n.*1001_*1002insAA) c.*123_*124insAA (n.*123_*124insAA) n.229_230insAA c.1006_1007insAA (p.Val336GlufsTer19) c.1003_1004insAA (p.Val335GlufsTer19) c.1066_1067insAA (p.Val356GlufsTer19) c.1000_1001insAA (p.Val334GlufsTer19) c.952_953insAA (p.Val318GlufsTer19) n.301_302insAA c.8+140_8+141insAA (n.8+140_8+141insAA) | ClinVar dbSNP |
| 7 | g.44146479del | CA213699 | GCK | c.*1001del (n.*1001del) c.*123del (n.*123del) n.229del c.1006del (p.Val336CysfsTer18) c.1003del (p.Val335CysfsTer18) c.1066del (p.Val356CysfsTer18) c.1000del (p.Val334CysfsTer18) c.952del (p.Val318CysfsTer18) n.301del c.8+140del (n.8+140del) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.44146479C>A | CA367399739 | GCK | c.*1001G>T (n.*1001G>T) c.*123G>T (n.*123G>T) n.229G>T c.1006G>T (p.Val336Leu) c.1003G>T (p.Val335Leu) c.1066G>T (p.Val356Leu) c.1000G>T (p.Val334Leu) c.952G>T (p.Val318Leu) n.301G>T c.8+140G>T (n.8+140G>T) | gnomAD v4 |
| 7 | g.44146479C= | CA1703613461 | GCK | c.*1001G= (n.*1001G=) c.*123G= (n.*123G=) n.229G= c.1006G= (p.Val336=) c.1003G= (p.Val335=) c.1066G= (p.Val356=) c.1000G= (p.Val334=) c.952G= (p.Val318=) n.301G= c.8+140G= (n.8+140G=) | |
| 7 | g.44146479C>G | CA367399737 | GCK | c.*1001G>C (n.*1001G>C) c.*123G>C (n.*123G>C) n.229G>C c.1006G>C (p.Val336Leu) c.1003G>C (p.Val335Leu) c.1066G>C (p.Val356Leu) c.1000G>C (p.Val334Leu) c.952G>C (p.Val318Leu) n.301G>C c.8+140G>C (n.8+140G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44146479C>T | CA367399740 | GCK | c.*1001G>A (n.*1001G>A) c.*123G>A (n.*123G>A) n.229G>A c.1006G>A (p.Val336Met) c.1003G>A (p.Val335Met) c.1066G>A (p.Val356Met) c.1000G>A (p.Val334Met) c.952G>A (p.Val318Met) n.301G>A c.8+140G>A (n.8+140G>A) | |
| 7 | g.44146479_44146480delinsCG | CA1703613460 | GCK | c.*1000_*1001delinsCG (n.*1000_*1001delinsCG) c.*122_*123delinsCG (n.*122_*123delinsCG) n.228_229delinsCG c.1005_1006delinsCG (p.Phe335=) c.1002_1003delinsCG (p.Phe334=) c.1065_1066delinsCG (p.Phe355=) c.999_1000delinsCG (p.Phe333=) c.951_952delinsCG (p.Phe317=) n.300_301delinsCG c.8+139_8+140delinsCG (n.8+139_8+140delinsCG) | |
| 7 | g.44146479_44146480delinsTT | CA213696 | GCK | c.*1000_*1001delinsAA (n.*1000_*1001delinsAA) c.*122_*123delinsAA (n.*122_*123delinsAA) n.228_229delinsAA c.1005_1006delinsAA (p.Phe335_Val336delinsLeuMet) c.1002_1003delinsAA (p.Phe334_Val335delinsLeuMet) c.1065_1066delinsAA (p.Phe355_Val356delinsLeuMet) c.999_1000delinsAA (p.Phe333_Val334delinsLeuMet) c.951_952delinsAA (p.Phe317_Val318delinsLeuMet) n.300_301delinsAA c.8+139_8+140delinsAA (n.8+139_8+140delinsAA) | ClinVar dbSNP |
| 7 | g.44146480G>A | CA454607737 | GCK | c.*1000C>T (n.*1000C>T) c.*122C>T (n.*122C>T) n.228C>T c.1005C>T (p.Phe335=) c.1002C>T (p.Phe334=) c.1065C>T (p.Phe355=) c.999C>T (p.Phe333=) c.951C>T (p.Phe317=) n.300C>T c.8+139C>T (n.8+139C>T) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 7 | g.44146480G>C | CA367399742 | GCK | c.*1000C>G (n.*1000C>G) c.*122C>G (n.*122C>G) n.228C>G c.1005C>G (p.Phe335Leu) c.1002C>G (p.Phe334Leu) c.1065C>G (p.Phe355Leu) c.999C>G (p.Phe333Leu) c.951C>G (p.Phe317Leu) n.300C>G c.8+139C>G (n.8+139C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.44146480G= | CA1703613462 | GCK | c.*1000C= (n.*1000C=) c.*122C= (n.*122C=) n.228C= c.1005C= (p.Phe335=) c.1002C= (p.Phe334=) c.1065C= (p.Phe355=) c.999C= (p.Phe333=) c.951C= (p.Phe317=) n.300C= c.8+139C= (n.8+139C=) | |
| 7 | g.44146480G>T | CA367399743 | GCK | c.*1000C>A (n.*1000C>A) c.*122C>A (n.*122C>A) n.228C>A c.1005C>A (p.Phe335Leu) c.1002C>A (p.Phe334Leu) c.1065C>A (p.Phe355Leu) c.999C>A (p.Phe333Leu) c.951C>A (p.Phe317Leu) n.300C>A c.8+139C>A (n.8+139C>A) | gnomAD v4 |
| 7 | g.44146481A>C | CA367399746 | GCK | c.*999T>G (n.*999T>G) c.*121T>G (n.*121T>G) n.227T>G c.1004T>G (p.Phe335Cys) c.1001T>G (p.Phe334Cys) c.1064T>G (p.Phe355Cys) c.998T>G (p.Phe333Cys) c.950T>G (p.Phe317Cys) n.299T>G c.8+138T>G (n.8+138T>G) | |
| 7 | g.44146481A>G | CA367399747 | GCK | c.*999T>C (n.*999T>C) c.*121T>C (n.*121T>C) n.227T>C c.1004T>C (p.Phe335Ser) c.1001T>C (p.Phe334Ser) c.1064T>C (p.Phe355Ser) c.998T>C (p.Phe333Ser) c.950T>C (p.Phe317Ser) n.299T>C c.8+138T>C (n.8+138T>C) | |
| 7 | g.44146481A>T | CA367399749 | GCK | c.*999T>A (n.*999T>A) c.*121T>A (n.*121T>A) n.227T>A c.1004T>A (p.Phe335Tyr) c.1001T>A (p.Phe334Tyr) c.1064T>A (p.Phe355Tyr) c.998T>A (p.Phe333Tyr) c.950T>A (p.Phe317Tyr) n.299T>A c.8+138T>A (n.8+138T>A) | |
| 7 | g.44146482A>C | CA367399750 | GCK | c.*998T>G (n.*998T>G) c.*120T>G (n.*120T>G) n.226T>G c.1003T>G (p.Phe335Val) c.1000T>G (p.Phe334Val) c.1063T>G (p.Phe355Val) c.997T>G (p.Phe333Val) c.949T>G (p.Phe317Val) n.298T>G c.8+137T>G (n.8+137T>G) | |
| 7 | g.44146482A>G | CA367399751 | GCK | c.*998T>C (n.*998T>C) c.*120T>C (n.*120T>C) n.226T>C c.1003T>C (p.Phe335Leu) c.1000T>C (p.Phe334Leu) c.1063T>C (p.Phe355Leu) c.997T>C (p.Phe333Leu) c.949T>C (p.Phe317Leu) n.298T>C c.8+137T>C (n.8+137T>C) | |
| 7 | g.44146482A>T | CA367399753 | GCK | c.*998T>A (n.*998T>A) c.*120T>A (n.*120T>A) n.226T>A c.1003T>A (p.Phe335Ile) c.1000T>A (p.Phe334Ile) c.1063T>A (p.Phe355Ile) c.997T>A (p.Phe333Ile) c.949T>A (p.Phe317Ile) n.298T>A c.8+137T>A (n.8+137T>A) | |
| 7 | g.44146483G>A | CA454607746 | GCK | c.*997C>T (n.*997C>T) c.*119C>T (n.*119C>T) n.225C>T c.1002C>T (p.Arg334=) c.999C>T (p.Arg333=) c.1062C>T (p.Arg354=) c.996C>T (p.Arg332=) c.948C>T (p.Arg316=) n.297C>T c.8+136C>T (n.8+136C>T) | |
| 7 | g.44146483G>C | CA454607747 | GCK | c.*997C>G (n.*997C>G) c.*119C>G (n.*119C>G) n.225C>G c.1002C>G (p.Arg334=) c.999C>G (p.Arg333=) c.1062C>G (p.Arg354=) c.996C>G (p.Arg332=) c.948C>G (p.Arg316=) n.297C>G c.8+136C>G (n.8+136C>G) | |
| 7 | g.44146483G>T | CA454607749 | GCK | c.*997C>A (n.*997C>A) c.*119C>A (n.*119C>A) n.225C>A c.1002C>A (p.Arg334=) c.999C>A (p.Arg333=) c.1062C>A (p.Arg354=) c.996C>A (p.Arg332=) c.948C>A (p.Arg316=) n.297C>A c.8+136C>A (n.8+136C>A) | gnomAD v4 |
| 7 | g.44146484C>A | CA367399755 | GCK | c.*996G>T (n.*996G>T) c.*118G>T (n.*118G>T) n.224G>T c.1001G>T (p.Arg334Leu) c.998G>T (p.Arg333Leu) c.1061G>T (p.Arg354Leu) c.995G>T (p.Arg332Leu) c.947G>T (p.Arg316Leu) n.296G>T c.8+135G>T (n.8+135G>T) | gnomAD v4 |