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 |
|---|---|---|---|---|---|
| 22 | g.50730936_50730938del | CA1026676138 | SHANK3 | c.4448_4450del (p.Thr1483del) n.5032_5034del c.3500_3502del (p.Thr1167del) c.2990_2992del (p.Thr997del) c.*3446_*3448del (n.*3446_*3448del) c.263_265del (p.Thr88del) c.4817_4819del (p.Thr1606del) c.4799_4801del (p.Thr1600del) | gnomAD v3 gnomAD v4 |
| 22 | g.50730938A>C | CA515266905 | SHANK3 | c.4450A>C (p.Ile1484Leu) n.5034A>C c.3502A>C (p.Ile1168Leu) c.2992A>C (p.Ile998Leu) c.*3448A>C (n.*3448A>C) c.265A>C (p.Ile89Leu) c.4819A>C (p.Ile1607Leu) c.4801A>C (p.Ile1601Leu) | |
| 22 | g.50730938A>G | CA515266906 | SHANK3 | c.4450A>G (p.Ile1484Val) n.5034A>G c.3502A>G (p.Ile1168Val) c.2992A>G (p.Ile998Val) c.*3448A>G (n.*3448A>G) c.265A>G (p.Ile89Val) c.4819A>G (p.Ile1607Val) c.4801A>G (p.Ile1601Val) | |
| 22 | g.50730938A>T | CA515266907 | SHANK3 | c.4450A>T (p.Ile1484Phe) n.5034A>T c.3502A>T (p.Ile1168Phe) c.2992A>T (p.Ile998Phe) c.*3448A>T (n.*3448A>T) c.265A>T (p.Ile89Phe) c.4819A>T (p.Ile1607Phe) c.4801A>T (p.Ile1601Phe) | |
| 22 | g.50730939T>A | CA515266909 | SHANK3 | c.4451T>A (p.Ile1484Asn) n.5035T>A c.3503T>A (p.Ile1168Asn) c.2993T>A (p.Ile998Asn) c.*3449T>A (n.*3449T>A) c.266T>A (p.Ile89Asn) c.4820T>A (p.Ile1607Asn) c.4802T>A (p.Ile1601Asn) | gnomAD v4 |
| 22 | g.50730939T>C | CA515266910 | SHANK3 | c.4451T>C (p.Ile1484Thr) n.5035T>C c.3503T>C (p.Ile1168Thr) c.2993T>C (p.Ile998Thr) c.*3449T>C (n.*3449T>C) c.266T>C (p.Ile89Thr) c.4820T>C (p.Ile1607Thr) c.4802T>C (p.Ile1601Thr) | gnomAD v4 |
| 22 | g.50730939T>G | CA515266908 | SHANK3 | c.4451T>G (p.Ile1484Ser) n.5035T>G c.3503T>G (p.Ile1168Ser) c.2993T>G (p.Ile998Ser) c.*3449T>G (n.*3449T>G) c.266T>G (p.Ile89Ser) c.4820T>G (p.Ile1607Ser) c.4802T>G (p.Ile1601Ser) | |
| 22 | g.50730940C>A | CA515266911 | SHANK3 | c.4452C>A (p.Ile1484=) n.5036C>A c.3504C>A (p.Ile1168=) c.2994C>A (p.Ile998=) c.*3450C>A (n.*3450C>A) c.267C>A (p.Ile89=) c.4821C>A (p.Ile1607=) c.4803C>A (p.Ile1601=) | gnomAD v4 |
| 22 | g.50730940C= | CA2411013111 | SHANK3 | c.4452C= (p.Ile1484=) n.5036C= c.3504C= (p.Ile1168=) c.2994C= (p.Ile998=) c.*3450C= (n.*3450C=) c.267C= (p.Ile89=) c.4821C= (p.Ile1607=) c.4803C= (p.Ile1601=) | |
| 22 | g.50730940C>G | CA515266912 | SHANK3 | c.4452C>G (p.Ile1484Met) n.5036C>G c.3504C>G (p.Ile1168Met) c.2994C>G (p.Ile998Met) c.*3450C>G (n.*3450C>G) c.267C>G (p.Ile89Met) c.4821C>G (p.Ile1607Met) c.4803C>G (p.Ile1601Met) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50730940C>T | CA515266913 | SHANK3 | c.4452C>T (p.Ile1484=) n.5036C>T c.3504C>T (p.Ile1168=) c.2994C>T (p.Ile998=) c.*3450C>T (n.*3450C>T) c.267C>T (p.Ile89=) c.4821C>T (p.Ile1607=) c.4803C>T (p.Ile1601=) | gnomAD v4 |
| 22 | g.50730941del | CA2657583034 | SHANK3 | c.4453del (p.Leu1485SerfsTer22) n.5037del c.3505del (p.Leu1169SerfsTer22) c.2995del (p.Leu999SerfsTer22) c.*3451del (n.*3451del) c.268del (p.Leu90SerfsTer22) c.4822del (p.Leu1608SerfsTer22) c.4804del (p.Leu1602SerfsTer22) | gnomAD v4 |
| 22 | g.50730941C>A | CA515266914 | SHANK3 | c.4453C>A (p.Leu1485Ile) n.5037C>A c.3505C>A (p.Leu1169Ile) c.2995C>A (p.Leu999Ile) c.*3451C>A (n.*3451C>A) c.268C>A (p.Leu90Ile) c.4822C>A (p.Leu1608Ile) c.4804C>A (p.Leu1602Ile) | gnomAD v4 |
| 22 | g.50730941C= | CA2411013112 | SHANK3 | c.4453C= (p.Leu1485=) n.5037C= c.3505C= (p.Leu1169=) c.2995C= (p.Leu999=) c.*3451C= (n.*3451C=) c.268C= (p.Leu90=) c.4822C= (p.Leu1608=) c.4804C= (p.Leu1602=) | |
| 22 | g.50730941C>G | CA515266915 | SHANK3 | c.4453C>G (p.Leu1485Val) n.5037C>G c.3505C>G (p.Leu1169Val) c.2995C>G (p.Leu999Val) c.*3451C>G (n.*3451C>G) c.268C>G (p.Leu90Val) c.4822C>G (p.Leu1608Val) c.4804C>G (p.Leu1602Val) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50730941C>T | CA515266916 | SHANK3 | c.4453C>T (p.Leu1485Phe) n.5037C>T c.3505C>T (p.Leu1169Phe) c.2995C>T (p.Leu999Phe) c.*3451C>T (n.*3451C>T) c.268C>T (p.Leu90Phe) c.4822C>T (p.Leu1608Phe) c.4804C>T (p.Leu1602Phe) | gnomAD v4 |
| 22 | g.50730942T>A | CA515266919 | SHANK3 | c.4454T>A (p.Leu1485His) n.5038T>A c.3506T>A (p.Leu1169His) c.2996T>A (p.Leu999His) c.*3452T>A (n.*3452T>A) c.269T>A (p.Leu90His) c.4823T>A (p.Leu1608His) c.4805T>A (p.Leu1602His) | gnomAD v4 |
| 22 | g.50730942T>C | CA515266917 | SHANK3 | c.4454T>C (p.Leu1485Pro) n.5038T>C c.3506T>C (p.Leu1169Pro) c.2996T>C (p.Leu999Pro) c.*3452T>C (n.*3452T>C) c.269T>C (p.Leu90Pro) c.4823T>C (p.Leu1608Pro) c.4805T>C (p.Leu1602Pro) | gnomAD v4 |
| 22 | g.50730942T>G | CA515266918 | SHANK3 | c.4454T>G (p.Leu1485Arg) n.5038T>G c.3506T>G (p.Leu1169Arg) c.2996T>G (p.Leu999Arg) c.*3452T>G (n.*3452T>G) c.269T>G (p.Leu90Arg) c.4823T>G (p.Leu1608Arg) c.4805T>G (p.Leu1602Arg) | |
| 22 | g.50730943C>A | CA515266920 | SHANK3 | c.4455C>A (p.Leu1485=) n.5039C>A c.3507C>A (p.Leu1169=) c.2997C>A (p.Leu999=) c.*3453C>A (n.*3453C>A) c.270C>A (p.Leu90=) c.4824C>A (p.Leu1608=) c.4806C>A (p.Leu1602=) | gnomAD v4 |
| 22 | g.50730943C>G | CA515266921 | SHANK3 | c.4455C>G (p.Leu1485=) n.5039C>G c.3507C>G (p.Leu1169=) c.2997C>G (p.Leu999=) c.*3453C>G (n.*3453C>G) c.270C>G (p.Leu90=) c.4824C>G (p.Leu1608=) c.4806C>G (p.Leu1602=) | gnomAD v4 |
| 22 | g.50730943C>T | CA515266922 | SHANK3 | c.4455C>T (p.Leu1485=) n.5039C>T c.3507C>T (p.Leu1169=) c.2997C>T (p.Leu999=) c.*3453C>T (n.*3453C>T) c.270C>T (p.Leu90=) c.4824C>T (p.Leu1608=) c.4806C>T (p.Leu1602=) | gnomAD v4 |
| 22 | g.50730944A>C | CA515266923 | SHANK3 | c.4456A>C (p.Lys1486Gln) n.5040A>C c.3508A>C (p.Lys1170Gln) c.2998A>C (p.Lys1000Gln) c.*3454A>C (n.*3454A>C) c.271A>C (p.Lys91Gln) c.4825A>C (p.Lys1609Gln) c.4807A>C (p.Lys1603Gln) | |
| 22 | g.50730944A>G | CA515266924 | SHANK3 | c.4456A>G (p.Lys1486Glu) n.5040A>G c.3508A>G (p.Lys1170Glu) c.2998A>G (p.Lys1000Glu) c.*3454A>G (n.*3454A>G) c.271A>G (p.Lys91Glu) c.4825A>G (p.Lys1609Glu) c.4807A>G (p.Lys1603Glu) | gnomAD v4 |
| 22 | g.50730944A>T | CA515266925 | SHANK3 | c.4456A>T (p.Lys1486Ter) n.5040A>T c.3508A>T (p.Lys1170Ter) c.2998A>T (p.Lys1000Ter) c.*3454A>T (n.*3454A>T) c.271A>T (p.Lys91Ter) c.4825A>T (p.Lys1609Ter) c.4807A>T (p.Lys1603Ter) | gnomAD v4 |
| 22 | g.50730945A>C | CA515266926 | SHANK3 | c.4457A>C (p.Lys1486Thr) n.5041A>C c.3509A>C (p.Lys1170Thr) c.2999A>C (p.Lys1000Thr) c.*3455A>C (n.*3455A>C) c.272A>C (p.Lys91Thr) c.4826A>C (p.Lys1609Thr) c.4808A>C (p.Lys1603Thr) | gnomAD v4 |
| 22 | g.50730945A>G | CA515266929 | SHANK3 | c.4457A>G (p.Lys1486Arg) n.5041A>G c.3509A>G (p.Lys1170Arg) c.2999A>G (p.Lys1000Arg) c.*3455A>G (n.*3455A>G) c.272A>G (p.Lys91Arg) c.4826A>G (p.Lys1609Arg) c.4808A>G (p.Lys1603Arg) | gnomAD v4 |
| 22 | g.50730945A>T | CA515266928 | SHANK3 | c.4457A>T (p.Lys1486Met) n.5041A>T c.3509A>T (p.Lys1170Met) c.2999A>T (p.Lys1000Met) c.*3455A>T (n.*3455A>T) c.272A>T (p.Lys91Met) c.4826A>T (p.Lys1609Met) c.4808A>T (p.Lys1603Met) | gnomAD v4 |
| 22 | g.50730946G>A | CA515266930 | SHANK3 | c.4458G>A (p.Lys1486=) n.5042G>A c.3510G>A (p.Lys1170=) c.3000G>A (p.Lys1000=) c.*3456G>A (n.*3456G>A) c.273G>A (p.Lys91=) c.4827G>A (p.Lys1609=) c.4809G>A (p.Lys1603=) | gnomAD v4 |
| 22 | g.50730946G>C | CA515266931 | SHANK3 | c.4458G>C (p.Lys1486Asn) n.5042G>C c.3510G>C (p.Lys1170Asn) c.3000G>C (p.Lys1000Asn) c.*3456G>C (n.*3456G>C) c.273G>C (p.Lys91Asn) c.4827G>C (p.Lys1609Asn) c.4809G>C (p.Lys1603Asn) | gnomAD v4 |
| 22 | g.50730946G>T | CA515266932 | SHANK3 | c.4458G>T (p.Lys1486Asn) n.5042G>T c.3510G>T (p.Lys1170Asn) c.3000G>T (p.Lys1000Asn) c.*3456G>T (n.*3456G>T) c.273G>T (p.Lys91Asn) c.4827G>T (p.Lys1609Asn) c.4809G>T (p.Lys1603Asn) | gnomAD v4 |
| 22 | g.50730947T>A | CA515266933 | SHANK3 | c.4459T>A (p.Ser1487Thr) n.5043T>A c.3511T>A (p.Ser1171Thr) c.3001T>A (p.Ser1001Thr) c.*3457T>A (n.*3457T>A) c.274T>A (p.Ser92Thr) c.4828T>A (p.Ser1610Thr) c.4810T>A (p.Ser1604Thr) | gnomAD v4 |
| 22 | g.50730947T>C | CA515266934 | SHANK3 | c.4459T>C (p.Ser1487Pro) n.5043T>C c.3511T>C (p.Ser1171Pro) c.3001T>C (p.Ser1001Pro) c.*3457T>C (n.*3457T>C) c.274T>C (p.Ser92Pro) c.4828T>C (p.Ser1610Pro) c.4810T>C (p.Ser1604Pro) | gnomAD v4 |
| 22 | g.50730947T>G | CA515266935 | SHANK3 | c.4459T>G (p.Ser1487Ala) n.5043T>G c.3511T>G (p.Ser1171Ala) c.3001T>G (p.Ser1001Ala) c.*3457T>G (n.*3457T>G) c.274T>G (p.Ser92Ala) c.4828T>G (p.Ser1610Ala) c.4810T>G (p.Ser1604Ala) | |
| 22 | g.50730948C>A | CA515266936 | SHANK3 | c.4460C>A (p.Ser1487Ter) n.5044C>A c.3512C>A (p.Ser1171Ter) c.3002C>A (p.Ser1001Ter) c.*3458C>A (n.*3458C>A) c.275C>A (p.Ser92Ter) c.4829C>A (p.Ser1610Ter) c.4811C>A (p.Ser1604Ter) | gnomAD v4 |
| 22 | g.50730948C= | CA2411013113 | SHANK3 | c.4460C= (p.Ser1487=) n.5044C= c.3512C= (p.Ser1171=) c.3002C= (p.Ser1001=) c.*3458C= (n.*3458C=) c.275C= (p.Ser92=) c.4829C= (p.Ser1610=) c.4811C= (p.Ser1604=) | |
| 22 | g.50730948C>G | CA515266937 | SHANK3 | c.4460C>G (p.Ser1487Trp) n.5044C>G c.3512C>G (p.Ser1171Trp) c.3002C>G (p.Ser1001Trp) c.*3458C>G (n.*3458C>G) c.275C>G (p.Ser92Trp) c.4829C>G (p.Ser1610Trp) c.4811C>G (p.Ser1604Trp) | ClinVar dbSNP gnomAD v4 |
| 22 | g.50730948C>T | CA515266938 | SHANK3 | c.4460C>T (p.Ser1487Leu) n.5044C>T c.3512C>T (p.Ser1171Leu) c.3002C>T (p.Ser1001Leu) c.*3458C>T (n.*3458C>T) c.275C>T (p.Ser92Leu) c.4829C>T (p.Ser1610Leu) c.4811C>T (p.Ser1604Leu) | gnomAD v3 gnomAD v4 |
| 22 | g.50730949G>A | CA515266940 | SHANK3 | c.4461G>A (p.Ser1487=) n.5045G>A c.3513G>A (p.Ser1171=) c.3003G>A (p.Ser1001=) c.*3459G>A (n.*3459G>A) c.276G>A (p.Ser92=) c.4830G>A (p.Ser1610=) c.4812G>A (p.Ser1604=) | gnomAD v4 |
| 22 | g.50730949G>C | CA515266941 | SHANK3 | c.4461G>C (p.Ser1487=) n.5045G>C c.3513G>C (p.Ser1171=) c.3003G>C (p.Ser1001=) c.*3459G>C (n.*3459G>C) c.276G>C (p.Ser92=) c.4830G>C (p.Ser1610=) c.4812G>C (p.Ser1604=) | gnomAD v4 |
| 22 | g.50730949G>T | CA515266943 | SHANK3 | c.4461G>T (p.Ser1487=) n.5045G>T c.3513G>T (p.Ser1171=) c.3003G>T (p.Ser1001=) c.*3459G>T (n.*3459G>T) c.276G>T (p.Ser92=) c.4830G>T (p.Ser1610=) c.4812G>T (p.Ser1604=) | gnomAD v4 |
| 22 | g.50730950T>A | CA515266944 | SHANK3 | c.4462T>A (p.Ser1488Thr) n.5046T>A c.3514T>A (p.Ser1172Thr) c.3004T>A (p.Ser1002Thr) c.*3460T>A (n.*3460T>A) c.277T>A (p.Ser93Thr) c.4831T>A (p.Ser1611Thr) c.4813T>A (p.Ser1605Thr) | |
| 22 | g.50730950T>C | CA515266948 | SHANK3 | c.4462T>C (p.Ser1488Pro) n.5046T>C c.3514T>C (p.Ser1172Pro) c.3004T>C (p.Ser1002Pro) c.*3460T>C (n.*3460T>C) c.277T>C (p.Ser93Pro) c.4831T>C (p.Ser1611Pro) c.4813T>C (p.Ser1605Pro) | gnomAD v4 |
| 22 | g.50730950T>G | CA515266946 | SHANK3 | c.4462T>G (p.Ser1488Ala) n.5046T>G c.3514T>G (p.Ser1172Ala) c.3004T>G (p.Ser1002Ala) c.*3460T>G (n.*3460T>G) c.277T>G (p.Ser93Ala) c.4831T>G (p.Ser1611Ala) c.4813T>G (p.Ser1605Ala) | |
| 22 | g.50730951C>A | CA515266949 | SHANK3 | c.4463C>A (p.Ser1488Tyr) n.5047C>A c.3515C>A (p.Ser1172Tyr) c.3005C>A (p.Ser1002Tyr) c.*3461C>A (n.*3461C>A) c.278C>A (p.Ser93Tyr) c.4832C>A (p.Ser1611Tyr) c.4814C>A (p.Ser1605Tyr) | gnomAD v4 |
| 22 | g.50730951C>G | CA515266950 | SHANK3 | c.4463C>G (p.Ser1488Cys) n.5047C>G c.3515C>G (p.Ser1172Cys) c.3005C>G (p.Ser1002Cys) c.*3461C>G (n.*3461C>G) c.278C>G (p.Ser93Cys) c.4832C>G (p.Ser1611Cys) c.4814C>G (p.Ser1605Cys) | |
| 22 | g.50730951C>T | CA515266951 | SHANK3 | c.4463C>T (p.Ser1488Phe) n.5047C>T c.3515C>T (p.Ser1172Phe) c.3005C>T (p.Ser1002Phe) c.*3461C>T (n.*3461C>T) c.278C>T (p.Ser93Phe) c.4832C>T (p.Ser1611Phe) c.4814C>T (p.Ser1605Phe) | gnomAD v4 |
| 22 | g.50730952del | CA2657583043 | SHANK3 | c.4464del (p.Ser1489AlafsTer18) n.5048del c.3516del (p.Ser1173AlafsTer18) c.3006del (p.Ser1003AlafsTer18) c.*3462del (n.*3462del) c.279del (p.Ser94AlafsTer18) c.4833del (p.Ser1612AlafsTer18) c.4815del (p.Ser1606AlafsTer18) | gnomAD v4 |
| 22 | g.50730952C>A | CA515266952 | SHANK3 | c.4464C>A (p.Ser1488=) n.5048C>A c.3516C>A (p.Ser1172=) c.3006C>A (p.Ser1002=) c.*3462C>A (n.*3462C>A) c.279C>A (p.Ser93=) c.4833C>A (p.Ser1611=) c.4815C>A (p.Ser1605=) | gnomAD v4 |
| 22 | g.50730952C>G | CA515266953 | SHANK3 | c.4464C>G (p.Ser1488=) n.5048C>G c.3516C>G (p.Ser1172=) c.3006C>G (p.Ser1002=) c.*3462C>G (n.*3462C>G) c.279C>G (p.Ser93=) c.4833C>G (p.Ser1611=) c.4815C>G (p.Ser1605=) | gnomAD v4 |