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 |
|---|---|---|---|---|---|
| 3 | g.24127603_24127604del | CA2755547029 | THRB | c.1041_1042del (p.Val348GlyfsTer7) c.*1670_*1671del (n.*1670_*1671del) c.1086_1087del (p.Val363GlyfsTer7) c.948_949del (p.Val317GlyfsTer7) c.973+68_973+69del (n.973+68_973+69del) | |
| 3 | g.24127604C>A | CA351888706 | THRB | c.1039G>T (p.Gly347Trp) c.*1668G>T (n.*1668G>T) c.1084G>T (p.Gly362Trp) c.946G>T (p.Gly316Trp) c.973+66G>T (n.973+66G>T) | ClinVar |
| 3 | g.24127604C>G | CA351888705 | THRB | c.1039G>C (p.Gly347Arg) c.*1668G>C (n.*1668G>C) c.1084G>C (p.Gly362Arg) c.946G>C (p.Gly316Arg) c.973+66G>C (n.973+66G>C) | |
| 3 | g.24127604C>T | CA351888704 | THRB | c.1039G>A (p.Gly347Arg) c.*1668G>A (n.*1668G>A) c.1084G>A (p.Gly362Arg) c.946G>A (p.Gly316Arg) c.973+66G>A (n.973+66G>A) | |
| 3 | g.24127605A= | CA1351825309 | THRB | c.1038T= (p.Leu346=) c.*1667T= (n.*1667T=) c.1083T= (p.Leu361=) c.945T= (p.Leu315=) c.973+65T= (n.973+65T=) | |
| 3 | g.24127605A>C | CA2287134 | THRB | c.1038T>G (p.Leu346=) c.*1667T>G (n.*1667T>G) c.1083T>G (p.Leu361=) c.945T>G (p.Leu315=) c.973+65T>G (n.973+65T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.24127605A>G | CA432916323 | THRB | c.1038T>C (p.Leu346=) c.*1667T>C (n.*1667T>C) c.1083T>C (p.Leu361=) c.945T>C (p.Leu315=) c.973+65T>C (n.973+65T>C) | |
| 3 | g.24127605A>T | CA432916325 | THRB | c.1038T>A (p.Leu346=) c.*1667T>A (n.*1667T>A) c.1083T>A (p.Leu361=) c.945T>A (p.Leu315=) c.973+65T>A (n.973+65T>A) | |
| 3 | g.24127606A>C | CA351888707 | THRB | c.1037T>G (p.Leu346Arg) c.*1666T>G (n.*1666T>G) c.1082T>G (p.Leu361Arg) c.944T>G (p.Leu315Arg) c.973+64T>G (n.973+64T>G) | |
| 3 | g.24127606A>G | CA351888708 | THRB | c.1037T>C (p.Leu346Pro) c.*1666T>C (n.*1666T>C) c.1082T>C (p.Leu361Pro) c.944T>C (p.Leu315Pro) c.973+64T>C (n.973+64T>C) | |
| 3 | g.24127606A>T | CA351888709 | THRB | c.1037T>A (p.Leu346His) c.*1666T>A (n.*1666T>A) c.1082T>A (p.Leu361His) c.944T>A (p.Leu315His) c.973+64T>A (n.973+64T>A) | |
| 3 | g.24127607G>A | CA351888710 | THRB | c.1036C>T (p.Leu346Phe) c.*1665C>T (n.*1665C>T) c.1081C>T (p.Leu361Phe) c.943C>T (p.Leu315Phe) c.973+63C>T (n.973+63C>T) | |
| 3 | g.24127607G>C | CA351888711 | THRB | c.1036C>G (p.Leu346Val) c.*1665C>G (n.*1665C>G) c.1081C>G (p.Leu361Val) c.943C>G (p.Leu315Val) c.973+63C>G (n.973+63C>G) | |
| 3 | g.24127607G>T | CA351888712 | THRB | c.1036C>A (p.Leu346Ile) c.*1665C>A (n.*1665C>A) c.1081C>A (p.Leu361Ile) c.943C>A (p.Leu315Ile) c.973+63C>A (n.973+63C>A) | |
| 3 | g.24127608A>C | CA432916326 | THRB | c.1035T>G (p.Gly345=) c.*1664T>G (n.*1664T>G) c.1080T>G (p.Gly360=) c.942T>G (p.Gly314=) c.973+62T>G (n.973+62T>G) | |
| 3 | g.24127608A>G | CA432916327 | THRB | c.1035T>C (p.Gly345=) c.*1664T>C (n.*1664T>C) c.1080T>C (p.Gly360=) c.942T>C (p.Gly314=) c.973+62T>C (n.973+62T>C) | |
| 3 | g.24127608A>T | CA432916330 | THRB | c.1035T>A (p.Gly345=) c.*1664T>A (n.*1664T>A) c.1080T>A (p.Gly360=) c.942T>A (p.Gly314=) c.973+62T>A (n.973+62T>A) | |
| 3 | g.24127609C>A | CA122473 | THRB | c.1034G>T (p.Gly345Val) c.*1663G>T (n.*1663G>T) c.1079G>T (p.Gly360Val) c.941G>T (p.Gly314Val) c.973+61G>T (n.973+61G>T) | ClinVar dbSNP |
| 3 | g.24127609C= | CA1351825314 | THRB | c.1034G= (p.Gly345=) c.*1663G= (n.*1663G=) c.1079G= (p.Gly360=) c.941G= (p.Gly314=) c.973+61G= (n.973+61G=) | |
| 3 | g.24127609C>G | CA351888713 | THRB | c.1034G>C (p.Gly345Ala) c.*1663G>C (n.*1663G>C) c.1079G>C (p.Gly360Ala) c.941G>C (p.Gly314Ala) c.973+61G>C (n.973+61G>C) | |
| 3 | g.24127609C>T | CA122471 | THRB | c.1034G>A (p.Gly345Asp) c.*1663G>A (n.*1663G>A) c.1079G>A (p.Gly360Asp) c.941G>A (p.Gly314Asp) c.973+61G>A (n.973+61G>A) | ClinVar dbSNP |
| 3 | g.24127610C>A | CA351888714 | THRB | c.1033G>T (p.Gly345Cys) c.*1662G>T (n.*1662G>T) c.1078G>T (p.Gly360Cys) c.940G>T (p.Gly314Cys) c.973+60G>T (n.973+60G>T) | ClinVar dbSNP |
| 3 | g.24127610C= | CA1351825315 | THRB | c.1033G= (p.Gly345=) c.*1662G= (n.*1662G=) c.1078G= (p.Gly360=) c.940G= (p.Gly314=) c.973+60G= (n.973+60G=) | |
| 3 | g.24127610C>G | CA122452 | THRB | c.1033G>C (p.Gly345Arg) c.*1662G>C (n.*1662G>C) c.1078G>C (p.Gly360Arg) c.940G>C (p.Gly314Arg) c.973+60G>C (n.973+60G>C) | ClinVar dbSNP |
| 3 | g.24127610C>T | CA122485 | THRB | c.1033G>A (p.Gly345Ser) c.*1662G>A (n.*1662G>A) c.1078G>A (p.Gly360Ser) c.940G>A (p.Gly314Ser) c.973+60G>A (n.973+60G>A) | ClinVar dbSNP |
| 3 | g.24127611C>A | CA432916334 | THRB | c.1032G>T (p.Gly344=) c.*1661G>T (n.*1661G>T) c.1077G>T (p.Gly359=) c.939G>T (p.Gly313=) c.973+59G>T (n.973+59G>T) | |
| 3 | g.24127611C>G | CA432916336 | THRB | c.1032G>C (p.Gly344=) c.*1661G>C (n.*1661G>C) c.1077G>C (p.Gly359=) c.939G>C (p.Gly313=) c.973+59G>C (n.973+59G>C) | |
| 3 | g.24127611C>T | CA432916337 | THRB | c.1032G>A (p.Gly344=) c.*1661G>A (n.*1661G>A) c.1077G>A (p.Gly359=) c.939G>A (p.Gly313=) c.973+59G>A (n.973+59G>A) | |
| 3 | g.24127612C>A | CA351888717 | THRB | c.1031G>T (p.Gly344Val) c.*1660G>T (n.*1660G>T) c.1076G>T (p.Gly359Val) c.938G>T (p.Gly313Val) c.973+58G>T (n.973+58G>T) | |
| 3 | g.24127612C= | CA1351825316 | THRB | c.1031G= (p.Gly344=) c.*1660G= (n.*1660G=) c.1076G= (p.Gly359=) c.938G= (p.Gly313=) c.973+58G= (n.973+58G=) | |
| 3 | g.24127612C>G | CA351888715 | THRB | c.1031G>C (p.Gly344Ala) c.*1660G>C (n.*1660G>C) c.1076G>C (p.Gly359Ala) c.938G>C (p.Gly313Ala) c.973+58G>C (n.973+58G>C) | |
| 3 | g.24127612C>T | CA351888716 | THRB | c.1031G>A (p.Gly344Glu) c.*1660G>A (n.*1660G>A) c.1076G>A (p.Gly359Glu) c.938G>A (p.Gly313Glu) c.973+58G>A (n.973+58G>A) | ClinVar dbSNP |
| 3 | g.24127613C>A | CA351888718 | THRB | c.1030G>T (p.Gly344Trp) c.*1659G>T (n.*1659G>T) c.1075G>T (p.Gly359Trp) c.937G>T (p.Gly313Trp) c.973+57G>T (n.973+57G>T) | |
| 3 | g.24127613C>G | CA351888719 | THRB | c.1030G>C (p.Gly344Arg) c.*1659G>C (n.*1659G>C) c.1075G>C (p.Gly359Arg) c.937G>C (p.Gly313Arg) c.973+57G>C (n.973+57G>C) | |
| 3 | g.24127613C>T | CA351888720 | THRB | c.1030G>A (p.Gly344Arg) c.*1659G>A (n.*1659G>A) c.1075G>A (p.Gly359Arg) c.937G>A (p.Gly313Arg) c.973+57G>A (n.973+57G>A) | ClinVar |
| 3 | g.24127614A= | CA1351825318 | THRB | c.1029T= (p.Asn343=) c.*1658T= (n.*1658T=) c.1074T= (p.Asn358=) c.936T= (p.Asn312=) c.973+56T= (n.973+56T=) | |
| 3 | g.24127614A>C | CA351888721 | THRB | c.1029T>G (p.Asn343Lys) c.*1658T>G (n.*1658T>G) c.1074T>G (p.Asn358Lys) c.936T>G (p.Asn312Lys) c.973+56T>G (n.973+56T>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.24127614A>G | CA432916340 | THRB | c.1029T>C (p.Asn343=) c.*1658T>C (n.*1658T>C) c.1074T>C (p.Asn358=) c.936T>C (p.Asn312=) c.973+56T>C (n.973+56T>C) | gnomAD v4 |
| 3 | g.24127614A>T | CA351888722 | THRB | c.1029T>A (p.Asn343Lys) c.*1658T>A (n.*1658T>A) c.1074T>A (p.Asn358Lys) c.936T>A (p.Asn312Lys) c.973+56T>A (n.973+56T>A) | |
| 3 | g.24127615T>A | CA351888723 | THRB | c.1028A>T (p.Asn343Ile) c.*1657A>T (n.*1657A>T) c.1073A>T (p.Asn358Ile) c.935A>T (p.Asn312Ile) c.973+55A>T (n.973+55A>T) | |
| 3 | g.24127615T>C | CA351888724 | THRB | c.1028A>G (p.Asn343Ser) c.*1657A>G (n.*1657A>G) c.1073A>G (p.Asn358Ser) c.935A>G (p.Asn312Ser) c.973+55A>G (n.973+55A>G) | |
| 3 | g.24127615T>G | CA351888725 | THRB | c.1028A>C (p.Asn343Thr) c.*1657A>C (n.*1657A>C) c.1073A>C (p.Asn358Thr) c.935A>C (p.Asn312Thr) c.973+55A>C (n.973+55A>C) | ClinVar dbSNP |
| 3 | g.24127615T= | CA1351825320 | THRB | c.1028A= (p.Asn343=) c.*1657A= (n.*1657A=) c.1073A= (p.Asn358=) c.935A= (p.Asn312=) c.973+55A= (n.973+55A=) | |
| 3 | g.24127616T>A | CA351888726 | THRB | c.1027A>T (p.Asn343Tyr) c.*1656A>T (n.*1656A>T) c.1072A>T (p.Asn358Tyr) c.934A>T (p.Asn312Tyr) c.973+54A>T (n.973+54A>T) | |
| 3 | g.24127616T>C | CA351888727 | THRB | c.1027A>G (p.Asn343Asp) c.*1656A>G (n.*1656A>G) c.1072A>G (p.Asn358Asp) c.934A>G (p.Asn312Asp) c.973+54A>G (n.973+54A>G) | |
| 3 | g.24127616T>G | CA351888728 | THRB | c.1027A>C (p.Asn343His) c.*1656A>C (n.*1656A>C) c.1072A>C (p.Asn358His) c.934A>C (p.Asn312His) c.973+54A>C (n.973+54A>C) | |
| 3 | g.24127617T>A | CA351888729 | THRB | c.1026A>T (p.Lys342Asn) c.*1655A>T (n.*1655A>T) c.1071A>T (p.Lys357Asn) c.933A>T (p.Lys311Asn) c.973+53A>T (n.973+53A>T) | |
| 3 | g.24127617T>C | CA432916341 | THRB | c.1026A>G (p.Lys342=) c.*1655A>G (n.*1655A>G) c.1071A>G (p.Lys357=) c.933A>G (p.Lys311=) c.973+53A>G (n.973+53A>G) | |
| 3 | g.24127617T>G | CA351888730 | THRB | c.1026A>C (p.Lys342Asn) c.*1655A>C (n.*1655A>C) c.1071A>C (p.Lys357Asn) c.933A>C (p.Lys311Asn) c.973+53A>C (n.973+53A>C) | |
| 3 | g.24127618T>A | CA351888732 | THRB | c.1025A>T (p.Lys342Ile) c.*1654A>T (n.*1654A>T) c.1070A>T (p.Lys357Ile) c.932A>T (p.Lys311Ile) c.973+52A>T (n.973+52A>T) |