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 |
|---|---|---|---|---|---|
| X | g.67711384_67711484del | CA2693950049 | AR | c.*234-18_*316del c.1886-18_1968del c.513-18_595del c.290-18_372del c.1316-18_1398del | gnomAD v4 |
| X | g.67711444A>C | CA413423038 | AR | c.*276A>C (n.*276A>C) c.1928A>C (p.Glu643Ala) c.555A>C (n.555A>C) c.332A>C (p.Glu111Ala) c.1358A>C (p.Glu453Ala) | |
| X | g.67711444A>G | CA413423039 | AR | c.*276A>G (n.*276A>G) c.1928A>G (p.Glu643Gly) c.555A>G (n.555A>G) c.332A>G (p.Glu111Gly) c.1358A>G (p.Glu453Gly) | dbSNP |
| X | g.67711444A>T | CA413423040 | AR | c.*276A>T (n.*276A>T) c.1928A>T (p.Glu643Val) c.555A>T (n.555A>T) c.332A>T (p.Glu111Val) c.1358A>T (p.Glu453Val) | dbSNP |
| X | g.67711445A>C | CA413423041 | AR | c.*277A>C (n.*277A>C) c.1929A>C (p.Glu643Asp) c.556A>C (n.556A>C) c.333A>C (p.Glu111Asp) c.1359A>C (p.Glu453Asp) | |
| X | g.67711445A>G | CA517048123 | AR | c.*277A>G (n.*277A>G) c.1929A>G (p.Glu643=) c.556A>G (n.556A>G) c.333A>G (p.Glu111=) c.1359A>G (p.Glu453=) | dbSNP |
| X | g.67711445A>T | CA413423042 | AR | c.*277A>T (n.*277A>T) c.1929A>T (p.Glu643Asp) c.556A>T (n.556A>T) c.333A>T (p.Glu111Asp) c.1359A>T (p.Glu453Asp) | dbSNP |
| X | g.67711446G>A | CA413423043 | AR | c.*278G>A (n.*278G>A) c.1930G>A (p.Gly644Arg) c.557G>A (n.557G>A) c.334G>A (p.Gly112Arg) c.1360G>A (p.Gly454Arg) | dbSNP |
| X | g.67711446G>C | CA413423044 | AR | c.*278G>C (n.*278G>C) c.1930G>C (p.Gly644Arg) c.557G>C (n.557G>C) c.334G>C (p.Gly112Arg) c.1360G>C (p.Gly454Arg) | dbSNP |
| X | g.67711446G>T | CA413423045 | AR | c.*278G>T (n.*278G>T) c.1930G>T (p.Gly644Ter) c.557G>T (n.557G>T) c.334G>T (p.Gly112Ter) c.1360G>T (p.Gly454Ter) | dbSNP |
| X | g.67711447G>A | CA413423046 | AR | c.*279G>A (n.*279G>A) c.1931G>A (p.Gly644Glu) c.558G>A (n.558G>A) c.335G>A (p.Gly112Glu) c.1361G>A (p.Gly454Glu) | dbSNP |
| X | g.67711447G>C | CA413423047 | AR | c.*279G>C (n.*279G>C) c.1931G>C (p.Gly644Ala) c.558G>C (n.558G>C) c.335G>C (p.Gly112Ala) c.1361G>C (p.Gly454Ala) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.67711447G= | CA2435130442 | AR | c.*279G= (n.*279G=) c.1931G= (p.Gly644=) c.558G= (n.558G=) c.335G= (p.Gly112=) c.1361G= (p.Gly454=) | |
| X | g.67711447G>T | CA413423048 | AR | c.*279G>T (n.*279G>T) c.1931G>T (p.Gly644Val) c.558G>T (n.558G>T) c.335G>T (p.Gly112Val) c.1361G>T (p.Gly454Val) | |
| X | g.67711448A>C | CA517048136 | AR | c.*280A>C (n.*280A>C) c.1932A>C (p.Gly644=) c.559A>C (n.559A>C) c.336A>C (p.Gly112=) c.1362A>C (p.Gly454=) | |
| X | g.67711448A>G | CA517048139 | AR | c.*280A>G (n.*280A>G) c.1932A>G (p.Gly644=) c.559A>G (n.559A>G) c.336A>G (p.Gly112=) c.1362A>G (p.Gly454=) | dbSNP |
| X | g.67711448A>T | CA517048141 | AR | c.*280A>T (n.*280A>T) c.1932A>T (p.Gly644=) c.559A>T (n.559A>T) c.336A>T (p.Gly112=) c.1362A>T (p.Gly454=) | dbSNP |
| X | g.67711449G>A | CA413423049 | AR | c.*281G>A (n.*281G>A) c.1933G>A (p.Glu645Lys) c.560G>A (n.560G>A) c.337G>A (p.Glu113Lys) c.1363G>A (p.Glu455Lys) | dbSNP COSMIC COSMIC |
| X | g.67711449G>C | CA413423051 | AR | c.*281G>C (n.*281G>C) c.1933G>C (p.Glu645Gln) c.560G>C (n.560G>C) c.337G>C (p.Glu113Gln) c.1363G>C (p.Glu455Gln) | dbSNP |
| X | g.67711449G>T | CA413423050 | AR | c.*281G>T (n.*281G>T) c.1933G>T (p.Glu645Ter) c.560G>T (n.560G>T) c.337G>T (p.Glu113Ter) c.1363G>T (p.Glu455Ter) | ClinVar dbSNP |
| X | g.67711450A= | CA2435130443 | AR | c.*282A= (n.*282A=) c.1934A= (p.Glu645=) c.561A= (n.561A=) c.338A= (p.Glu113=) c.1364A= (p.Glu455=) | |
| X | g.67711450A>C | CA413423052 | AR | c.*282A>C (n.*282A>C) c.1934A>C (p.Glu645Ala) c.561A>C (n.561A>C) c.338A>C (p.Glu113Ala) c.1364A>C (p.Glu455Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.67711450A>G | CA413423054 | AR | c.*282A>G (n.*282A>G) c.1934A>G (p.Glu645Gly) c.561A>G (n.561A>G) c.338A>G (p.Glu113Gly) c.1364A>G (p.Glu455Gly) | dbSNP |
| X | g.67711450A>T | CA413423053 | AR | c.*282A>T (n.*282A>T) c.1934A>T (p.Glu645Val) c.561A>T (n.561A>T) c.338A>T (p.Glu113Val) c.1364A>T (p.Glu455Val) | dbSNP |
| X | g.67711451G>A | CA517048143 | AR | c.*283G>A (n.*283G>A) c.1935G>A (p.Glu645=) c.562G>A (n.562G>A) c.339G>A (p.Glu113=) c.1365G>A (p.Glu455=) | dbSNP |
| X | g.67711451G>C | CA413423055 | AR | c.*283G>C (n.*283G>C) c.1935G>C (p.Glu645Asp) c.562G>C (n.562G>C) c.339G>C (p.Glu113Asp) c.1365G>C (p.Glu455Asp) | dbSNP |
| X | g.67711451G>T | CA413423056 | AR | c.*283G>T (n.*283G>T) c.1935G>T (p.Glu645Asp) c.562G>T (n.562G>T) c.339G>T (p.Glu113Asp) c.1365G>T (p.Glu455Asp) | dbSNP |
| X | g.67711452G>A | CA413423057 | AR | c.*284G>A (n.*284G>A) c.1936G>A (p.Ala646Thr) c.563G>A (n.563G>A) c.340G>A (p.Ala114Thr) c.1366G>A (p.Ala456Thr) | dbSNP |
| X | g.67711452G>C | CA413423058 | AR | c.*284G>C (n.*284G>C) c.1936G>C (p.Ala646Pro) c.563G>C (n.563G>C) c.340G>C (p.Ala114Pro) c.1366G>C (p.Ala456Pro) | dbSNP |
| X | g.67711452G>T | CA413423059 | AR | c.*284G>T (n.*284G>T) c.1936G>T (p.Ala646Ser) c.563G>T (n.563G>T) c.340G>T (p.Ala114Ser) c.1366G>T (p.Ala456Ser) | gnomAD v4 |
| X | g.67711453C>A | CA120795 | AR | c.*285C>A (n.*285C>A) c.1937C>A (p.Ala646Asp) c.564C>A (n.564C>A) c.341C>A (p.Ala114Asp) c.1367C>A (p.Ala456Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.67711453C= | CA2435130444 | AR | c.*285C= (n.*285C=) c.1937C= (p.Ala646=) c.564C= (n.564C=) c.341C= (p.Ala114=) c.1367C= (p.Ala456=) | |
| X | g.67711453C>G | CA413423060 | AR | c.*285C>G (n.*285C>G) c.1937C>G (p.Ala646Gly) c.564C>G (n.564C>G) c.341C>G (p.Ala114Gly) c.1367C>G (p.Ala456Gly) | dbSNP |
| X | g.67711453C>T | CA413423061 | AR | c.*285C>T (n.*285C>T) c.1937C>T (p.Ala646Val) c.564C>T (n.564C>T) c.341C>T (p.Ala114Val) c.1367C>T (p.Ala456Val) | dbSNP |
| X | g.67711454T>A | CA517048153 | AR | c.*286T>A (n.*286T>A) c.1938T>A (p.Ala646=) c.565T>A (n.565T>A) c.342T>A (p.Ala114=) c.1368T>A (p.Ala456=) | dbSNP |
| X | g.67711454T>C | CA517048154 | AR | c.*286T>C (n.*286T>C) c.1938T>C (p.Ala646=) c.565T>C (n.565T>C) c.342T>C (p.Ala114=) c.1368T>C (p.Ala456=) | dbSNP |
| X | g.67711454T>G | CA517048157 | AR | c.*286T>G (n.*286T>G) c.1938T>G (p.Ala646=) c.565T>G (n.565T>G) c.342T>G (p.Ala114=) c.1368T>G (p.Ala456=) | dbSNP |
| X | g.67711455T>A | CA413423062 | AR | c.*287T>A (n.*287T>A) c.1939T>A (p.Ser647Thr) c.566T>A (n.566T>A) c.343T>A (p.Ser115Thr) c.1369T>A (p.Ser457Thr) | |
| X | g.67711455T>C | CA413423063 | AR | c.*287T>C (n.*287T>C) c.1939T>C (p.Ser647Pro) c.566T>C (n.566T>C) c.343T>C (p.Ser115Pro) c.1369T>C (p.Ser457Pro) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.67711455T>G | CA413423064 | AR | c.*287T>G (n.*287T>G) c.1939T>G (p.Ser647Ala) c.566T>G (n.566T>G) c.343T>G (p.Ser115Ala) c.1369T>G (p.Ser457Ala) | |
| X | g.67711455T= | CA2435130445 | AR | c.*287T= (n.*287T=) c.1939T= (p.Ser647=) c.566T= (n.566T=) c.343T= (p.Ser115=) c.1369T= (p.Ser457=) | |
| X | g.67711456C>A | CA413423067 | AR | c.*288C>A (n.*288C>A) c.1940C>A (p.Ser647Tyr) c.567C>A (n.567C>A) c.344C>A (p.Ser115Tyr) c.1370C>A (p.Ser457Tyr) | |
| X | g.67711456C>G | CA413423065 | AR | c.*288C>G (n.*288C>G) c.1940C>G (p.Ser647Cys) c.567C>G (n.567C>G) c.344C>G (p.Ser115Cys) c.1370C>G (p.Ser457Cys) | |
| X | g.67711456C>T | CA413423066 | AR | c.*288C>T (n.*288C>T) c.1940C>T (p.Ser647Phe) c.567C>T (n.567C>T) c.344C>T (p.Ser115Phe) c.1370C>T (p.Ser457Phe) | dbSNP |
| X | g.67711457C>A | CA517048161 | AR | c.*289C>A (n.*289C>A) c.1941C>A (p.Ser647=) c.568C>A (n.568C>A) c.345C>A (p.Ser115=) c.1371C>A (p.Ser457=) | dbSNP gnomAD v4 |
| X | g.67711457C>G | CA517048162 | AR | c.*289C>G (n.*289C>G) c.1941C>G (p.Ser647=) c.568C>G (n.568C>G) c.345C>G (p.Ser115=) c.1371C>G (p.Ser457=) | |
| X | g.67711457C>T | CA517048166 | AR | c.*289C>T (n.*289C>T) c.1941C>T (p.Ser647=) c.568C>T (n.568C>T) c.345C>T (p.Ser115=) c.1371C>T (p.Ser457=) | dbSNP |
| X | g.67711458A= | CA2435130446 | AR | c.*290A= (n.*290A=) c.1942A= (p.Ser648=) c.569A= (n.569A=) c.346A= (p.Ser116=) c.1372A= (p.Ser458=) | |
| X | g.67711458A>C | CA413423068 | AR | c.*290A>C (n.*290A>C) c.1942A>C (p.Ser648Arg) c.569A>C (n.569A>C) c.346A>C (p.Ser116Arg) c.1372A>C (p.Ser458Arg) | |
| X | g.67711458A>G | CA413423069 | AR | c.*290A>G (n.*290A>G) c.1942A>G (p.Ser648Gly) c.569A>G (n.569A>G) c.346A>G (p.Ser116Gly) c.1372A>G (p.Ser458Gly) | dbSNP |