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 |
|---|---|---|---|---|---|
| 11 | g.67490444C>A | CA475509312 | AIP | c.751C>A c.585C>A (p.Leu195=) n.1286C>A c.469-553C>A (n.469-553C>A) c.405C>A (p.Leu135=) c.774C>A (p.Leu258=) c.597C>A (p.Leu199=) c.594C>A (p.Leu198=) c.426C>A (p.Leu142=) | ClinVar gnomAD v4 |
| 11 | g.67490444C= | CA1980172466 | AIP | c.751C= c.585C= (p.Leu195=) n.1286C= c.469-553C= (n.469-553C=) c.405C= (p.Leu135=) c.774C= (p.Leu258=) c.597C= (p.Leu199=) c.594C= (p.Leu198=) c.426C= (p.Leu142=) | |
| 11 | g.67490444C>G | CA475509313 | AIP | c.751C>G c.585C>G (p.Leu195=) n.1286C>G c.469-553C>G (n.469-553C>G) c.405C>G (p.Leu135=) c.774C>G (p.Leu258=) c.597C>G (p.Leu199=) c.594C>G (p.Leu198=) c.426C>G (p.Leu142=) | |
| 11 | g.67490444C>T | CA224165448 | AIP | c.751C>T c.585C>T (p.Leu195=) n.1286C>T c.469-553C>T (n.469-553C>T) c.405C>T (p.Leu135=) c.774C>T (p.Leu258=) c.597C>T (p.Leu199=) c.594C>T (p.Leu198=) c.426C>T (p.Leu142=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.67490445A= | CA1980172467 | AIP | c.752A= c.586A= (p.Asn196=) n.1287A= c.469-552A= (n.469-552A=) c.406A= (p.Asn136=) c.775A= (p.Asn259=) c.598A= (p.Asn200=) c.595A= (p.Asn199=) c.427A= (p.Asn143=) | |
| 11 | g.67490445A>C | CA381551929 | AIP | c.752A>C c.586A>C (p.Asn196His) n.1287A>C c.469-552A>C (n.469-552A>C) c.406A>C (p.Asn136His) c.775A>C (p.Asn259His) c.598A>C (p.Asn200His) c.595A>C (p.Asn199His) c.427A>C (p.Asn143His) | |
| 11 | g.67490445A>G | CA381551930 | AIP | c.752A>G c.586A>G (p.Asn196Asp) n.1287A>G c.469-552A>G (n.469-552A>G) c.406A>G (p.Asn136Asp) c.775A>G (p.Asn259Asp) c.598A>G (p.Asn200Asp) c.595A>G (p.Asn199Asp) c.427A>G (p.Asn143Asp) | dbSNP gnomAD v4 |
| 11 | g.67490445A>T | CA381551931 | AIP | c.752A>T c.586A>T (p.Asn196Tyr) n.1287A>T c.469-552A>T (n.469-552A>T) c.406A>T (p.Asn136Tyr) c.775A>T (p.Asn259Tyr) c.598A>T (p.Asn200Tyr) c.595A>T (p.Asn199Tyr) c.427A>T (p.Asn143Tyr) | |
| 11 | g.67490446A>C | CA381551934 | AIP | c.753A>C c.587A>C (p.Asn196Thr) n.1288A>C c.469-551A>C (n.469-551A>C) c.407A>C (p.Asn136Thr) c.776A>C (p.Asn259Thr) c.599A>C (p.Asn200Thr) c.596A>C (p.Asn199Thr) c.428A>C (p.Asn143Thr) | |
| 11 | g.67490446A>G | CA381551933 | AIP | c.753A>G c.587A>G (p.Asn196Ser) n.1288A>G c.469-551A>G (n.469-551A>G) c.407A>G (p.Asn136Ser) c.776A>G (p.Asn259Ser) c.599A>G (p.Asn200Ser) c.596A>G (p.Asn199Ser) c.428A>G (p.Asn143Ser) | ClinVar dbSNP gnomAD v4 |
| 11 | g.67490446A>T | CA381551932 | AIP | c.753A>T c.587A>T (p.Asn196Ile) n.1288A>T c.469-551A>T (n.469-551A>T) c.407A>T (p.Asn136Ile) c.776A>T (p.Asn259Ile) c.599A>T (p.Asn200Ile) c.596A>T (p.Asn199Ile) c.428A>T (p.Asn143Ile) | |
| 11 | g.67490447C>A | CA381551935 | AIP | c.754C>A c.588C>A (p.Asn196Lys) n.1289C>A c.469-550C>A (n.469-550C>A) c.408C>A (p.Asn136Lys) c.777C>A (p.Asn259Lys) c.600C>A (p.Asn200Lys) c.597C>A (p.Asn199Lys) c.429C>A (p.Asn143Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.67490447C= | CA1980172468 | AIP | c.754C= c.588C= (p.Asn196=) n.1289C= c.469-550C= (n.469-550C=) c.408C= (p.Asn136=) c.777C= (p.Asn259=) c.600C= (p.Asn200=) c.597C= (p.Asn199=) c.429C= (p.Asn143=) | |
| 11 | g.67490447C>G | CA381551936 | AIP | c.754C>G c.588C>G (p.Asn196Lys) n.1289C>G c.469-550C>G (n.469-550C>G) c.408C>G (p.Asn136Lys) c.777C>G (p.Asn259Lys) c.600C>G (p.Asn200Lys) c.597C>G (p.Asn199Lys) c.429C>G (p.Asn143Lys) | ClinVar |
| 11 | g.67490447C>T | CA475509318 | AIP | c.754C>T c.588C>T (p.Asn196=) n.1289C>T c.469-550C>T (n.469-550C>T) c.408C>T (p.Asn136=) c.777C>T (p.Asn259=) c.600C>T (p.Asn200=) c.597C>T (p.Asn199=) c.429C>T (p.Asn143=) | ClinVar gnomAD v4 |
| 11 | g.67490448A>C | CA381551937 | AIP | c.755A>C c.589A>C (p.Lys197Gln) n.1290A>C c.469-549A>C (n.469-549A>C) c.409A>C (p.Lys137Gln) c.778A>C (p.Lys260Gln) c.601A>C (p.Lys201Gln) c.598A>C (p.Lys200Gln) c.430A>C (p.Lys144Gln) | |
| 11 | g.67490448A>G | CA381551938 | AIP | c.755A>G c.589A>G (p.Lys197Glu) n.1290A>G c.469-549A>G (n.469-549A>G) c.409A>G (p.Lys137Glu) c.778A>G (p.Lys260Glu) c.601A>G (p.Lys201Glu) c.598A>G (p.Lys200Glu) c.430A>G (p.Lys144Glu) | |
| 11 | g.67490448A>T | CA381551939 | AIP | c.755A>T c.589A>T (p.Lys197Ter) n.1290A>T c.469-549A>T (n.469-549A>T) c.409A>T (p.Lys137Ter) c.778A>T (p.Lys260Ter) c.601A>T (p.Lys201Ter) c.598A>T (p.Lys200Ter) c.430A>T (p.Lys144Ter) | |
| 11 | g.67490449del | CA2695214806 | AIP | c.756del c.590del (p.Lys197SerfsTer?) n.1291del c.469-548del (n.469-548del) c.410del (p.Lys137SerfsTer?) c.779del (p.Lys260SerfsTer?) c.779del (p.Lys260AsnfsTer?) c.602del (p.Lys201SerfsTer?) c.599del (p.Lys200SerfsTer?) c.431del (p.Lys144SerfsTer?) | |
| 11 | g.67490449A>C | CA381551940 | AIP | c.756A>C c.590A>C (p.Lys197Thr) n.1291A>C c.469-548A>C (n.469-548A>C) c.410A>C (p.Lys137Thr) c.779A>C (p.Lys260Thr) c.602A>C (p.Lys201Thr) c.599A>C (p.Lys200Thr) c.431A>C (p.Lys144Thr) | |
| 11 | g.67490449A>G | CA381551941 | AIP | c.756A>G c.590A>G (p.Lys197Arg) n.1291A>G c.469-548A>G (n.469-548A>G) c.410A>G (p.Lys137Arg) c.779A>G (p.Lys260Arg) c.602A>G (p.Lys201Arg) c.599A>G (p.Lys200Arg) c.431A>G (p.Lys144Arg) | |
| 11 | g.67490449A>T | CA381551942 | AIP | c.756A>T c.590A>T (p.Lys197Met) n.1291A>T c.469-548A>T (n.469-548A>T) c.410A>T (p.Lys137Met) c.779A>T (p.Lys260Met) c.779A>T (p.Lys260Ile) c.602A>T (p.Lys201Met) c.599A>T (p.Lys200Met) c.431A>T (p.Lys144Met) | |
| 11 | g.67490450G>A | CA475509320 | AIP | c.757G>A c.591G>A (p.Lys197=) n.1292G>A c.469-547G>A (n.469-547G>A) c.411G>A (p.Lys137=) c.780G>A (p.Lys260=) c.779+1G>A (n.779+1G>A) c.603G>A (p.Lys201=) c.600G>A (p.Lys200=) c.432G>A (p.Lys144=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.67490450G>C | CA6140933 | AIP | c.757G>C c.591G>C (p.Lys197Asn) n.1292G>C c.469-547G>C (n.469-547G>C) c.411G>C (p.Lys137Asn) c.780G>C (p.Lys260Asn) c.779+1G>C (n.779+1G>C) c.603G>C (p.Lys201Asn) c.600G>C (p.Lys200Asn) c.432G>C (p.Lys144Asn) | ClinVar dbSNP ExAC gnomAD v2 |
| 11 | g.67490450G= | CA1980172469 | AIP | c.757G= c.591G= (p.Lys197=) n.1292G= c.469-547G= (n.469-547G=) c.411G= (p.Lys137=) c.780G= (p.Lys260=) c.779+1G= (n.779+1G=) c.603G= (p.Lys201=) c.600G= (p.Lys200=) c.432G= (p.Lys144=) | |
| 11 | g.67490450G>T | CA381551943 | AIP | c.757G>T c.591G>T (p.Lys197Asn) n.1292G>T c.469-547G>T (n.469-547G>T) c.411G>T (p.Lys137Asn) c.780G>T (p.Lys260Asn) c.779+1G>T (n.779+1G>T) c.603G>T (p.Lys201Asn) c.600G>T (p.Lys200Asn) c.432G>T (p.Lys144Asn) | |
| 11 | g.67490451T>A | CA381551944 | AIP | c.758T>A c.592T>A (p.Tyr198Asn) n.1293T>A c.469-546T>A (n.469-546T>A) c.412T>A (p.Tyr138Asn) c.781T>A (p.Tyr261Asn) c.779+2T>A (n.779+2T>A) c.604T>A (p.Tyr202Asn) c.601T>A (p.Tyr201Asn) c.433T>A (p.Tyr145Asn) | |
| 11 | g.67490451T>C | CA381551945 | AIP | c.758T>C c.592T>C (p.Tyr198His) n.1293T>C c.469-546T>C (n.469-546T>C) c.412T>C (p.Tyr138His) c.781T>C (p.Tyr261His) c.779+2T>C (n.779+2T>C) c.604T>C (p.Tyr202His) c.601T>C (p.Tyr201His) c.433T>C (p.Tyr145His) | gnomAD v4 COSMIC |
| 11 | g.67490451T>G | CA381551946 | AIP | c.758T>G c.592T>G (p.Tyr198Asp) n.1293T>G c.469-546T>G (n.469-546T>G) c.412T>G (p.Tyr138Asp) c.781T>G (p.Tyr261Asp) c.779+2T>G (n.779+2T>G) c.604T>G (p.Tyr202Asp) c.601T>G (p.Tyr201Asp) c.433T>G (p.Tyr145Asp) | |
| 11 | g.67490451_67490454delinsTACG | CA1980172470 | AIP | c.758_761delinsTACG c.592_595delinsTACG (p.Tyr198=) n.1293_1296delinsTACG c.469-546_469-543delinsTACG (n.469-546_469-543delinsTACG) c.412_415delinsTACG (p.Tyr138=) c.781_784delinsTACG (p.Tyr261=) c.779+2_779+5delinsTACG (n.779+2_779+5delinsTACG) c.604_607delinsTACG (p.Tyr202=) c.601_604delinsTACG (p.Tyr201=) c.433_436delinsTACG (p.Tyr145=) | |
| 11 | g.67490452A= | CA1980172471 | AIP | c.759A= c.593A= (p.Tyr198=) n.1294A= c.469-545A= (n.469-545A=) c.413A= (p.Tyr138=) c.782A= (p.Tyr261=) c.779+3A= (n.779+3A=) c.605A= (p.Tyr202=) c.602A= (p.Tyr201=) c.434A= (p.Tyr145=) | |
| 11 | g.67490452A>C | CA381551948 | AIP | c.759A>C c.593A>C (p.Tyr198Ser) n.1294A>C c.469-545A>C (n.469-545A>C) c.413A>C (p.Tyr138Ser) c.782A>C (p.Tyr261Ser) c.779+3A>C (n.779+3A>C) c.605A>C (p.Tyr202Ser) c.602A>C (p.Tyr201Ser) c.434A>C (p.Tyr145Ser) | |
| 11 | g.67490452A>G | CA224165453 | AIP | c.759A>G c.593A>G (p.Tyr198Cys) n.1294A>G c.469-545A>G (n.469-545A>G) c.413A>G (p.Tyr138Cys) c.782A>G (p.Tyr261Cys) c.779+3A>G (n.779+3A>G) c.605A>G (p.Tyr202Cys) c.602A>G (p.Tyr201Cys) c.434A>G (p.Tyr145Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.67490452A>T | CA381551947 | AIP | c.759A>T c.593A>T (p.Tyr198Phe) n.1294A>T c.469-545A>T (n.469-545A>T) c.413A>T (p.Tyr138Phe) c.782A>T (p.Tyr261Phe) c.779+3A>T (n.779+3A>T) c.605A>T (p.Tyr202Phe) c.602A>T (p.Tyr201Phe) c.434A>T (p.Tyr145Phe) | |
| 11 | g.67490452dup | CA2614624261 | AIP | c.759dup c.593dup (p.Tyr198Ter) n.1294dup c.469-545dup (n.469-545dup) c.413dup (p.Tyr138Ter) c.782dup (p.Tyr261Ter) c.779+3dup (n.779+3dup) c.605dup (p.Tyr202Ter) c.602dup (p.Tyr201Ter) c.434dup (p.Tyr145Ter) | gnomAD v4 |
| 11 | g.67490455_67490457del | CA6140934 | AIP | c.762_764del c.596_598del (p.Asp200del) n.1297_1299del c.469-542_469-540del (n.469-542_469-540del) c.416_418del (p.Asp140del) c.785_787del (p.Asp263del) c.779+6_779+8del (n.779+6_779+8del) c.608_610del (p.Asp204del) c.785_787del (p.Asp262del) c.605_607del (p.Asp203del) c.437_439del (p.Asp146del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.67490453C>A | CA381551949 | AIP | c.760C>A c.594C>A (p.Tyr198Ter) n.1295C>A c.469-544C>A (n.469-544C>A) c.414C>A (p.Tyr138Ter) c.783C>A (p.Tyr261Ter) c.779+4C>A (n.779+4C>A) c.606C>A (p.Tyr202Ter) c.603C>A (p.Tyr201Ter) c.435C>A (p.Tyr145Ter) | |
| 11 | g.67490453C= | CA1980172472 | AIP | c.760C= c.594C= (p.Tyr198=) n.1295C= c.469-544C= (n.469-544C=) c.414C= (p.Tyr138=) c.783C= (p.Tyr261=) c.779+4C= (n.779+4C=) c.606C= (p.Tyr202=) c.603C= (p.Tyr201=) c.435C= (p.Tyr145=) | |
| 11 | g.67490453C>G | CA381551950 | AIP | c.760C>G c.594C>G (p.Tyr198Ter) n.1295C>G c.469-544C>G (n.469-544C>G) c.414C>G (p.Tyr138Ter) c.783C>G (p.Tyr261Ter) c.779+4C>G (n.779+4C>G) c.606C>G (p.Tyr202Ter) c.603C>G (p.Tyr201Ter) c.435C>G (p.Tyr145Ter) | ClinVar COSMIC |
| 11 | g.67490453C>T | CA344183 | AIP | c.760C>T c.594C>T (p.Tyr198=) n.1295C>T c.469-544C>T (n.469-544C>T) c.414C>T (p.Tyr138=) c.783C>T (p.Tyr261=) c.779+4C>T (n.779+4C>T) c.606C>T (p.Tyr202=) c.603C>T (p.Tyr201=) c.435C>T (p.Tyr145=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.67490454G>A | CA6140935 | AIP | c.761G>A c.595G>A (p.Asp199Asn) n.1296G>A c.469-543G>A (n.469-543G>A) c.415G>A (p.Asp139Asn) c.784G>A (p.Asp262Asn) c.779+5G>A (n.779+5G>A) c.607G>A (p.Asp203Asn) c.604G>A (p.Asp202Asn) c.436G>A (p.Asp146Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.67490454G>C | CA381551951 | AIP | c.761G>C c.595G>C (p.Asp199His) n.1296G>C c.469-543G>C (n.469-543G>C) c.415G>C (p.Asp139His) c.784G>C (p.Asp262His) c.779+5G>C (n.779+5G>C) c.607G>C (p.Asp203His) c.604G>C (p.Asp202His) c.436G>C (p.Asp146His) | |
| 11 | g.67490454G= | CA1980172473 | AIP | c.761G= c.595G= (p.Asp199=) n.1296G= c.469-543G= (n.469-543G=) c.415G= (p.Asp139=) c.784G= (p.Asp262=) c.779+5G= (n.779+5G=) c.607G= (p.Asp203=) c.604G= (p.Asp202=) c.436G= (p.Asp146=) | |
| 11 | g.67490454G>T | CA381551952 | AIP | c.761G>T c.595G>T (p.Asp199Tyr) n.1296G>T c.469-543G>T (n.469-543G>T) c.415G>T (p.Asp139Tyr) c.784G>T (p.Asp262Tyr) c.779+5G>T (n.779+5G>T) c.607G>T (p.Asp203Tyr) c.604G>T (p.Asp202Tyr) c.436G>T (p.Asp146Tyr) | gnomAD v4 |
| 11 | g.67490455A>C | CA381551953 | AIP | c.762A>C c.596A>C (p.Asp199Ala) n.1297A>C c.469-542A>C (n.469-542A>C) c.416A>C (p.Asp139Ala) c.785A>C (p.Asp262Ala) c.779+6A>C (n.779+6A>C) c.608A>C (p.Asp203Ala) c.605A>C (p.Asp202Ala) c.437A>C (p.Asp146Ala) | |
| 11 | g.67490455A>G | CA381551954 | AIP | c.762A>G c.596A>G (p.Asp199Gly) n.1297A>G c.469-542A>G (n.469-542A>G) c.416A>G (p.Asp139Gly) c.785A>G (p.Asp262Gly) c.779+6A>G (n.779+6A>G) c.608A>G (p.Asp203Gly) c.605A>G (p.Asp202Gly) c.437A>G (p.Asp146Gly) | |
| 11 | g.67490455A>T | CA381551955 | AIP | c.762A>T c.596A>T (p.Asp199Val) n.1297A>T c.469-542A>T (n.469-542A>T) c.416A>T (p.Asp139Val) c.785A>T (p.Asp262Val) c.779+6A>T (n.779+6A>T) c.608A>T (p.Asp203Val) c.605A>T (p.Asp202Val) c.437A>T (p.Asp146Val) | |
| 11 | g.67490456C>A | CA6140937 | AIP | c.763C>A c.597C>A (p.Asp199Glu) n.1298C>A c.469-541C>A (n.469-541C>A) c.417C>A (p.Asp139Glu) c.786C>A (p.Asp262Glu) c.779+7C>A (n.779+7C>A) c.609C>A (p.Asp203Glu) c.606C>A (p.Asp202Glu) c.438C>A (p.Asp146Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.67490456C= | CA1980172474 | AIP | c.763C= c.597C= (p.Asp199=) n.1298C= c.469-541C= (n.469-541C=) c.417C= (p.Asp139=) c.786C= (p.Asp262=) c.779+7C= (n.779+7C=) c.609C= (p.Asp203=) c.606C= (p.Asp202=) c.438C= (p.Asp146=) | |
| 11 | g.67490456C>G | CA381551956 | AIP | c.763C>G c.597C>G (p.Asp199Glu) n.1298C>G c.469-541C>G (n.469-541C>G) c.417C>G (p.Asp139Glu) c.786C>G (p.Asp262Glu) c.779+7C>G (n.779+7C>G) c.609C>G (p.Asp203Glu) c.606C>G (p.Asp202Glu) c.438C>G (p.Asp146Glu) |