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 |
|---|---|---|---|---|---|
| 4 | g.6291576_6291577insAGT | CA2760284110 | WFS1 | c.631+209_631+210insAGT (n.631+209_631+210insAGT) c.608+222_608+223insAGT c.*135_*136insAGT (n.*135_*136insAGT) c.382+209_382+210insAGT (n.382+209_382+210insAGT) c.430+209_430+210insAGT (n.430+209_430+210insAGT) c.228+209_228+210insAGT n.816+209_816+210insAGT c.640+209_640+210insAGT (n.640+209_640+210insAGT) | |
| 4 | g.6291579G>A | CA1435768766 | WFS1 | c.631+212G>A (n.631+212G>A) c.608+225G>A c.*138G>A (n.*138G>A) c.382+212G>A (n.382+212G>A) c.430+212G>A (n.430+212G>A) c.228+212G>A n.816+212G>A c.640+212G>A (n.640+212G>A) | dbSNP |
| 4 | g.6291579G= | CA1435768765 | WFS1 | c.631+212G= (n.631+212G=) c.608+225G= c.*138G= (n.*138G=) c.382+212G= (n.382+212G=) c.430+212G= (n.430+212G=) c.228+212G= n.816+212G= c.640+212G= (n.640+212G=) | |
| 4 | g.6291581T>A | CA2760284111 | WFS1 | c.631+214T>A (n.631+214T>A) c.608+227T>A c.*140T>A (n.*140T>A) c.382+214T>A (n.382+214T>A) c.430+214T>A (n.430+214T>A) c.228+214T>A n.816+214T>A c.640+214T>A (n.640+214T>A) | |
| 4 | g.6291581_6291582insA | CA2760284112 | WFS1 | c.631+214_631+215insA (n.631+214_631+215insA) c.608+227_608+228insA c.*140_*141insA (n.*140_*141insA) c.382+214_382+215insA (n.382+214_382+215insA) c.430+214_430+215insA (n.430+214_430+215insA) c.228+214_228+215insA n.816+214_816+215insA c.640+214_640+215insA (n.640+214_640+215insA) | |
| 4 | g.6291582G>A | CA91794612 | WFS1 | c.631+215G>A (n.631+215G>A) c.608+228G>A c.*141G>A (n.*141G>A) c.382+215G>A (n.382+215G>A) c.430+215G>A (n.430+215G>A) c.228+215G>A n.816+215G>A c.640+215G>A (n.640+215G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6291582G>C | CA2760284113 | WFS1 | c.631+215G>C (n.631+215G>C) c.608+228G>C c.*141G>C (n.*141G>C) c.382+215G>C (n.382+215G>C) c.430+215G>C (n.430+215G>C) c.228+215G>C n.816+215G>C c.640+215G>C (n.640+215G>C) | |
| 4 | g.6291582G= | CA1435768767 | WFS1 | c.631+215G= (n.631+215G=) c.608+228G= c.*141G= (n.*141G=) c.382+215G= (n.382+215G=) c.430+215G= (n.430+215G=) c.228+215G= n.816+215G= c.640+215G= (n.640+215G=) | |
| 4 | g.6291583G>A | CA2760284117 | WFS1 | c.631+216G>A (n.631+216G>A) c.608+229G>A c.*142G>A (n.*142G>A) c.382+216G>A (n.382+216G>A) c.430+216G>A (n.430+216G>A) c.228+216G>A n.816+216G>A c.640+216G>A (n.640+216G>A) | |
| 4 | g.6291583G>C | CA2760284116 | WFS1 | c.631+216G>C (n.631+216G>C) c.608+229G>C c.*142G>C (n.*142G>C) c.382+216G>C (n.382+216G>C) c.430+216G>C (n.430+216G>C) c.228+216G>C n.816+216G>C c.640+216G>C (n.640+216G>C) | |
| 4 | g.6291583G>T | CA2760284115 | WFS1 | c.631+216G>T (n.631+216G>T) c.608+229G>T c.*142G>T (n.*142G>T) c.382+216G>T (n.382+216G>T) c.430+216G>T (n.430+216G>T) c.228+216G>T n.816+216G>T c.640+216G>T (n.640+216G>T) | |
| 4 | g.6291584_6291590del | CA2760284118 | WFS1 | c.631+217_631+223del (n.631+217_631+223del) c.608+230_608+236del c.*143_*149del (n.*143_*149del) c.382+217_382+223del (n.382+217_382+223del) c.430+217_430+223del (n.430+217_430+223del) c.228+217_228+223del n.816+217_816+223del c.640+217_640+223del (n.640+217_640+223del) | |
| 4 | g.6291583_6291584insACA | CA2760284119 | WFS1 | c.631+216_631+217insACA (n.631+216_631+217insACA) c.608+229_608+230insACA c.*142_*143insACA (n.*142_*143insACA) c.382+216_382+217insACA (n.382+216_382+217insACA) c.430+216_430+217insACA (n.430+216_430+217insACA) c.228+216_228+217insACA n.816+216_816+217insACA c.640+216_640+217insACA (n.640+216_640+217insACA) | |
| 4 | g.6291584C>A | CA2760284121 | WFS1 | c.631+217C>A (n.631+217C>A) c.608+230C>A c.*143C>A (n.*143C>A) c.382+217C>A (n.382+217C>A) c.430+217C>A (n.430+217C>A) c.228+217C>A n.816+217C>A c.640+217C>A (n.640+217C>A) | |
| 4 | g.6291585A>C | CA2760284122 | WFS1 | c.631+218A>C (n.631+218A>C) c.608+231A>C c.*144A>C (n.*144A>C) c.382+218A>C (n.382+218A>C) c.430+218A>C (n.430+218A>C) c.228+218A>C n.816+218A>C c.640+218A>C (n.640+218A>C) | |
| 4 | g.6291585_6291586delinsAT | CA1435768768 | WFS1 | c.631+218_631+219delinsAT (n.631+218_631+219delinsAT) c.608+231_608+232delinsAT c.*144_*145delinsAT (n.*144_*145delinsAT) c.382+218_382+219delinsAT (n.382+218_382+219delinsAT) c.430+218_430+219delinsAT (n.430+218_430+219delinsAT) c.228+218_228+219delinsAT n.816+218_816+219delinsAT c.640+218_640+219delinsAT (n.640+218_640+219delinsAT) | |
| 4 | g.6291589del | CA797128060 | WFS1 | c.631+222del (n.631+222del) c.608+235del c.*148del (n.*148del) c.382+222del (n.382+222del) c.430+222del (n.430+222del) c.228+222del n.816+222del c.640+222del (n.640+222del) | dbSNP |
| 4 | g.6291587_6291590del | CA2760284123 | WFS1 | c.631+220_631+223del (n.631+220_631+223del) c.608+233_608+236del c.*146_*149del (n.*146_*149del) c.382+220_382+223del (n.382+220_382+223del) c.430+220_430+223del (n.430+220_430+223del) c.228+220_228+223del n.816+220_816+223del c.640+220_640+223del (n.640+220_640+223del) | |
| 4 | g.6291587_6291588insAC | CA2760284124 | WFS1 | c.631+220_631+221insAC (n.631+220_631+221insAC) c.608+233_608+234insAC c.*146_*147insAC (n.*146_*147insAC) c.382+220_382+221insAC (n.382+220_382+221insAC) c.430+220_430+221insAC (n.430+220_430+221insAC) c.228+220_228+221insAC n.816+220_816+221insAC c.640+220_640+221insAC (n.640+220_640+221insAC) | |
| 4 | g.6291588_6291590del | CA2760284125 | WFS1 | c.631+221_631+223del (n.631+221_631+223del) c.608+234_608+236del c.*147_*149del (n.*147_*149del) c.382+221_382+223del (n.382+221_382+223del) c.430+221_430+223del (n.430+221_430+223del) c.228+221_228+223del n.816+221_816+223del c.640+221_640+223del (n.640+221_640+223del) | |
| 4 | g.6291591A= | CA1435768769 | WFS1 | c.631+224A= (n.631+224A=) c.608+237A= c.*150A= (n.*150A=) c.382+224A= (n.382+224A=) c.430+224A= (n.430+224A=) c.228+224A= n.816+224A= c.640+224A= (n.640+224A=) | |
| 4 | g.6291591A>G | CA1435768770 | WFS1 | c.631+224A>G (n.631+224A>G) c.608+237A>G c.*150A>G (n.*150A>G) c.382+224A>G (n.382+224A>G) c.430+224A>G (n.430+224A>G) c.228+224A>G n.816+224A>G c.640+224A>G (n.640+224A>G) | dbSNP |
| 4 | g.6291592C>G | CA2760284126 | WFS1 | c.631+225C>G (n.631+225C>G) c.608+238C>G c.*151C>G (n.*151C>G) c.382+225C>G (n.382+225C>G) c.430+225C>G (n.430+225C>G) c.228+225C>G n.816+225C>G c.640+225C>G (n.640+225C>G) | |
| 4 | g.6291594G>A | CA1435768772 | WFS1 | c.631+227G>A (n.631+227G>A) c.608+240G>A c.*153G>A (n.*153G>A) c.382+227G>A (n.382+227G>A) c.430+227G>A (n.430+227G>A) c.228+227G>A n.816+227G>A c.640+227G>A (n.640+227G>A) | dbSNP |
| 4 | g.6291594G= | CA1435768771 | WFS1 | c.631+227G= (n.631+227G=) c.608+240G= c.*153G= (n.*153G=) c.382+227G= (n.382+227G=) c.430+227G= (n.430+227G=) c.228+227G= n.816+227G= c.640+227G= (n.640+227G=) | |
| 4 | g.6291599_6291617del | CA2760284127 | WFS1 | c.631+232_631+250del (n.631+232_631+250del) c.608+245_608+263del c.*158_*176del (n.*158_*176del) c.382+232_382+250del (n.382+232_382+250del) c.430+232_430+250del (n.430+232_430+250del) c.228+232_228+250del n.816+232_816+250del c.640+232_640+250del (n.640+232_640+250del) | |
| 4 | g.6291598C= | CA1435768773 | WFS1 | c.631+231C= (n.631+231C=) c.608+244C= c.*157C= (n.*157C=) c.382+231C= (n.382+231C=) c.430+231C= (n.430+231C=) c.228+231C= n.816+231C= c.640+231C= (n.640+231C=) | |
| 4 | g.6291598C>G | CA1435768774 | WFS1 | c.631+231C>G (n.631+231C>G) c.608+244C>G c.*157C>G (n.*157C>G) c.382+231C>G (n.382+231C>G) c.430+231C>G (n.430+231C>G) c.228+231C>G n.816+231C>G c.640+231C>G (n.640+231C>G) | dbSNP |
| 4 | g.6291598_6291599insAG | CA2760284128 | WFS1 | c.631+231_631+232insAG (n.631+231_631+232insAG) c.608+244_608+245insAG c.*157_*158insAG (n.*157_*158insAG) c.382+231_382+232insAG (n.382+231_382+232insAG) c.430+231_430+232insAG (n.430+231_430+232insAG) c.228+231_228+232insAG n.816+231_816+232insAG c.640+231_640+232insAG (n.640+231_640+232insAG) | |
| 4 | g.6291599_6291600insA | CA2760284129 | WFS1 | c.631+232_631+233insA (n.631+232_631+233insA) c.608+245_608+246insA c.*158_*159insA (n.*158_*159insA) c.382+232_382+233insA (n.382+232_382+233insA) c.430+232_430+233insA (n.430+232_430+233insA) c.228+232_228+233insA n.816+232_816+233insA c.640+232_640+233insA (n.640+232_640+233insA) | |
| 4 | g.6291599_6291600insAGA | CA2760284130 | WFS1 | c.631+232_631+233insAGA (n.631+232_631+233insAGA) c.608+245_608+246insAGA c.*158_*159insAGA (n.*158_*159insAGA) c.382+232_382+233insAGA (n.382+232_382+233insAGA) c.430+232_430+233insAGA (n.430+232_430+233insAGA) c.228+232_228+233insAGA n.816+232_816+233insAGA c.640+232_640+233insAGA (n.640+232_640+233insAGA) | |
| 4 | g.6291600G= | CA1435768775 | WFS1 | c.631+233G= (n.631+233G=) c.608+246G= c.*159G= (n.*159G=) c.382+233G= (n.382+233G=) c.430+233G= (n.430+233G=) c.228+233G= n.816+233G= c.640+233G= (n.640+233G=) | |
| 4 | g.6291600G>T | CA91794613 | WFS1 | c.631+233G>T (n.631+233G>T) c.608+246G>T c.*159G>T (n.*159G>T) c.382+233G>T (n.382+233G>T) c.430+233G>T (n.430+233G>T) c.228+233G>T n.816+233G>T c.640+233G>T (n.640+233G>T) | dbSNP |
| 4 | g.6291602_6291607del | CA2760284131 | WFS1 | c.631+235_631+240del (n.631+235_631+240del) c.608+248_608+253del c.*161_*166del (n.*161_*166del) c.382+235_382+240del (n.382+235_382+240del) c.430+235_430+240del (n.430+235_430+240del) c.228+235_228+240del n.816+235_816+240del c.640+235_640+240del (n.640+235_640+240del) | |
| 4 | g.6291600_6291601insACA | CA2760284133 | WFS1 | c.631+233_631+234insACA (n.631+233_631+234insACA) c.608+246_608+247insACA c.*159_*160insACA (n.*159_*160insACA) c.382+233_382+234insACA (n.382+233_382+234insACA) c.430+233_430+234insACA (n.430+233_430+234insACA) c.228+233_228+234insACA n.816+233_816+234insACA c.640+233_640+234insACA (n.640+233_640+234insACA) | |
| 4 | g.6291600_6291601insAGT | CA2760284134 | WFS1 | c.631+233_631+234insAGT (n.631+233_631+234insAGT) c.608+246_608+247insAGT c.*159_*160insAGT (n.*159_*160insAGT) c.382+233_382+234insAGT (n.382+233_382+234insAGT) c.430+233_430+234insAGT (n.430+233_430+234insAGT) c.228+233_228+234insAGT n.816+233_816+234insAGT c.640+233_640+234insAGT (n.640+233_640+234insAGT) | |
| 4 | g.6291601C>A | CA2760284135 | WFS1 | c.631+234C>A (n.631+234C>A) c.608+247C>A c.*160C>A (n.*160C>A) c.382+234C>A (n.382+234C>A) c.430+234C>A (n.430+234C>A) c.228+234C>A n.816+234C>A c.640+234C>A (n.640+234C>A) | |
| 4 | g.6291601C= | CA1435768776 | WFS1 | c.631+234C= (n.631+234C=) c.608+247C= c.*160C= (n.*160C=) c.382+234C= (n.382+234C=) c.430+234C= (n.430+234C=) c.228+234C= n.816+234C= c.640+234C= (n.640+234C=) | |
| 4 | g.6291601C>T | CA1435768777 | WFS1 | c.631+234C>T (n.631+234C>T) c.608+247C>T c.*160C>T (n.*160C>T) c.382+234C>T (n.382+234C>T) c.430+234C>T (n.430+234C>T) c.228+234C>T n.816+234C>T c.640+234C>T (n.640+234C>T) | dbSNP |
| 4 | g.6291602C>A | CA2760284137 | WFS1 | c.631+235C>A (n.631+235C>A) c.608+248C>A c.*161C>A (n.*161C>A) c.382+235C>A (n.382+235C>A) c.430+235C>A (n.430+235C>A) c.228+235C>A n.816+235C>A c.640+235C>A (n.640+235C>A) | |
| 4 | g.6291602_6291603insAGA | CA2760284138 | WFS1 | c.631+235_631+236insAGA (n.631+235_631+236insAGA) c.608+248_608+249insAGA c.*161_*162insAGA (n.*161_*162insAGA) c.382+235_382+236insAGA (n.382+235_382+236insAGA) c.430+235_430+236insAGA (n.430+235_430+236insAGA) c.228+235_228+236insAGA n.816+235_816+236insAGA c.640+235_640+236insAGA (n.640+235_640+236insAGA) | |
| 4 | g.6291603C= | CA1435768778 | WFS1 | c.631+236C= (n.631+236C=) c.608+249C= c.*162C= (n.*162C=) c.382+236C= (n.382+236C=) c.430+236C= (n.430+236C=) c.228+236C= n.816+236C= c.640+236C= (n.640+236C=) | |
| 4 | g.6291603C>G | CA1435768779 | WFS1 | c.631+236C>G (n.631+236C>G) c.608+249C>G c.*162C>G (n.*162C>G) c.382+236C>G (n.382+236C>G) c.430+236C>G (n.430+236C>G) c.228+236C>G n.816+236C>G c.640+236C>G (n.640+236C>G) | dbSNP |
| 4 | g.6291603C>T | CA2760284139 | WFS1 | c.631+236C>T (n.631+236C>T) c.608+249C>T c.*162C>T (n.*162C>T) c.382+236C>T (n.382+236C>T) c.430+236C>T (n.430+236C>T) c.228+236C>T n.816+236C>T c.640+236C>T (n.640+236C>T) | |
| 4 | g.6291604T>A | CA2760284140 | WFS1 | c.631+237T>A (n.631+237T>A) c.608+250T>A c.*163T>A (n.*163T>A) c.382+237T>A (n.382+237T>A) c.430+237T>A (n.430+237T>A) c.228+237T>A n.816+237T>A c.640+237T>A (n.640+237T>A) | |
| 4 | g.6291604_6291610del | CA2760284141 | WFS1 | c.631+237_631+243del (n.631+237_631+243del) c.608+250_608+256del c.*163_*169del (n.*163_*169del) c.382+237_382+243del (n.382+237_382+243del) c.430+237_430+243del (n.430+237_430+243del) c.228+237_228+243del n.816+237_816+243del c.640+237_640+243del (n.640+237_640+243del) | |
| 4 | g.6291605_6291606insAGTA | CA2760284142 | WFS1 | c.631+238_631+239insAGTA (n.631+238_631+239insAGTA) c.608+251_608+252insAGTA c.*164_*165insAGTA (n.*164_*165insAGTA) c.382+238_382+239insAGTA (n.382+238_382+239insAGTA) c.430+238_430+239insAGTA (n.430+238_430+239insAGTA) c.228+238_228+239insAGTA n.816+238_816+239insAGTA c.640+238_640+239insAGTA (n.640+238_640+239insAGTA) | |
| 4 | g.6291606_6291618delinsGCTCAAGTGCTCA | CA1435768780 | WFS1 | c.631+239_631+251delinsGCTCAAGTGCTCA (n.631+239_631+251delinsGCTCAAGTGCTCA) c.608+252_608+264delinsGCTCAAGTGCTCA c.*165_*177delinsGCTCAAGTGCTCA (n.*165_*177delinsGCTCAAGTGCTCA) c.382+239_382+251delinsGCTCAAGTGCTCA (n.382+239_382+251delinsGCTCAAGTGCTCA) c.430+239_430+251delinsGCTCAAGTGCTCA (n.430+239_430+251delinsGCTCAAGTGCTCA) c.228+239_228+251delinsGCTCAAGTGCTCA n.816+239_816+251delinsGCTCAAGTGCTCA c.640+239_640+251delinsGCTCAAGTGCTCA (n.640+239_640+251delinsGCTCAAGTGCTCA) | |
| 4 | g.6291607C= | CA1435768782 | WFS1 | c.631+240C= (n.631+240C=) c.608+253C= c.*166C= (n.*166C=) c.382+240C= (n.382+240C=) c.430+240C= (n.430+240C=) c.228+240C= n.816+240C= c.640+240C= (n.640+240C=) | |
| 4 | g.6291607C>T | CA1058888873 | WFS1 | c.631+240C>T (n.631+240C>T) c.608+253C>T c.*166C>T (n.*166C>T) c.382+240C>T (n.382+240C>T) c.430+240C>T (n.430+240C>T) c.228+240C>T n.816+240C>T c.640+240C>T (n.640+240C>T) | dbSNP gnomAD v3 gnomAD v4 |