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 |
|---|---|---|---|---|---|
| 5 | g.148994659_148994663delinsGTTAA | CA1590297816 | SH3TC2 | c.*10048_*10052delinsTTAAC (n.*10048_*10052delinsTTAAC) c.*12+9063_*12+9067delinsTTAAC (n.*12+9063_*12+9067delinsTTAAC) n.231+12218_231+12222delinsTTAAC | |
| 5 | g.148994662_148994665del | CA1590297820 | SH3TC2 | c.*10048_*10051del (n.*10048_*10051del) c.*12+9063_*12+9066del (n.*12+9063_*12+9066del) n.231+12218_231+12221del | dbSNP |
| 5 | g.148994660_148994668delinsTTAATTGGC | CA1590297821 | SH3TC2 | c.*10043_*10051delinsGCCAATTAA (n.*10043_*10051delinsGCCAATTAA) c.*12+9058_*12+9066delinsGCCAATTAA (n.*12+9058_*12+9066delinsGCCAATTAA) n.231+12213_231+12221delinsGCCAATTAA | |
| 5 | g.148994662_148994669del | CA1590297824 | SH3TC2 | c.*10043_*10050del (n.*10043_*10050del) c.*12+9058_*12+9065del (n.*12+9058_*12+9065del) n.231+12213_231+12220del | dbSNP |
| 5 | g.148994662A>G | CA1082791835 | SH3TC2 | c.*10049T>C (n.*10049T>C) c.*12+9064T>C (n.*12+9064T>C) n.231+12219T>C | gnomAD v3 gnomAD v4 |
| 5 | g.148994663A= | CA1590297825 | SH3TC2 | c.*10048T= (n.*10048T=) c.*12+9063T= (n.*12+9063T=) n.231+12218T= | |
| 5 | g.148994663A>G | CA1082791836 | SH3TC2 | c.*10048T>C (n.*10048T>C) c.*12+9063T>C (n.*12+9063T>C) n.231+12218T>C | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.148994664T>C | CA1082791837 | SH3TC2 | c.*10047A>G (n.*10047A>G) c.*12+9062A>G (n.*12+9062A>G) n.231+12217A>G | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.148994664T= | CA1590297826 | SH3TC2 | c.*10047A= (n.*10047A=) c.*12+9062A= (n.*12+9062A=) n.231+12217A= | |
| 5 | g.148994667G>C | CA128989080 | SH3TC2 | c.*10044C>G (n.*10044C>G) c.*12+9059C>G (n.*12+9059C>G) n.231+12214C>G | dbSNP |
| 5 | g.148994667G= | CA1590297827 | SH3TC2 | c.*10044C= (n.*10044C=) c.*12+9059C= (n.*12+9059C=) n.231+12214C= | |
| 5 | g.148994668C>A | CA1590297829 | SH3TC2 | c.*10043G>T (n.*10043G>T) c.*12+9058G>T (n.*12+9058G>T) n.231+12213G>T | dbSNP |
| 5 | g.148994668C= | CA1590297828 | SH3TC2 | c.*10043G= (n.*10043G=) c.*12+9058G= (n.*12+9058G=) n.231+12213G= | |
| 5 | g.148994670G= | CA1590297830 | SH3TC2 | c.*10041C= (n.*10041C=) c.*12+9056C= (n.*12+9056C=) n.231+12211C= | |
| 5 | g.148994670G>T | CA563537168 | SH3TC2 | c.*10041C>A (n.*10041C>A) c.*12+9056C>A (n.*12+9056C>A) n.231+12211C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.148994672_148994674dup | CA1082791838 | SH3TC2 | c.*10038_*10040dup (n.*10038_*10040dup) c.*12+9053_*12+9055dup (n.*12+9053_*12+9055dup) n.231+12208_231+12210dup | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.148994672T>C | CA1082791839 | SH3TC2 | c.*10039A>G (n.*10039A>G) c.*12+9054A>G (n.*12+9054A>G) n.231+12209A>G | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.148994672T= | CA1590297831 | SH3TC2 | c.*10039A= (n.*10039A=) c.*12+9054A= (n.*12+9054A=) n.231+12209A= | |
| 5 | g.148994673T>C | CA1590297833 | SH3TC2 | c.*10038A>G (n.*10038A>G) c.*12+9053A>G (n.*12+9053A>G) n.231+12208A>G | dbSNP |
| 5 | g.148994673T= | CA1590297832 | SH3TC2 | c.*10038A= (n.*10038A=) c.*12+9053A= (n.*12+9053A=) n.231+12208A= | |
| 5 | g.148994675G>A | CA1082791841 | SH3TC2 | c.*10036C>T (n.*10036C>T) c.*12+9051C>T (n.*12+9051C>T) n.231+12206C>T | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.148994675G= | CA1590297834 | SH3TC2 | c.*10036C= (n.*10036C=) c.*12+9051C= (n.*12+9051C=) n.231+12206C= | |
| 5 | g.148994675G>T | CA1082791843 | SH3TC2 | c.*10036C>A (n.*10036C>A) c.*12+9051C>A (n.*12+9051C>A) n.231+12206C>A | gnomAD v3 gnomAD v4 |
| 5 | g.148994678A= | CA1590297835 | SH3TC2 | c.*10033T= (n.*10033T=) c.*12+9048T= (n.*12+9048T=) n.231+12203T= | |
| 5 | g.148994678A>C | CA2710111539 | SH3TC2 | c.*10033T>G (n.*10033T>G) c.*12+9048T>G (n.*12+9048T>G) n.231+12203T>G | dbSNP |
| 5 | g.148994678A>G | CA1590297836 | SH3TC2 | c.*10033T>C (n.*10033T>C) c.*12+9048T>C (n.*12+9048T>C) n.231+12203T>C | dbSNP |
| 5 | g.148994679A= | CA1590297837 | SH3TC2 | c.*10032T= (n.*10032T=) c.*12+9047T= (n.*12+9047T=) n.231+12202T= | |
| 5 | g.148994679A>G | CA1082791846 | SH3TC2 | c.*10032T>C (n.*10032T>C) c.*12+9047T>C (n.*12+9047T>C) n.231+12202T>C | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.148994681T>A | CA563537169 | SH3TC2 | c.*10030A>T (n.*10030A>T) c.*12+9045A>T (n.*12+9045A>T) n.231+12200A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.148994681T>C | CA1590297839 | SH3TC2 | c.*10030A>G (n.*10030A>G) c.*12+9045A>G (n.*12+9045A>G) n.231+12200A>G | dbSNP |
| 5 | g.148994681T= | CA1590297838 | SH3TC2 | c.*10030A= (n.*10030A=) c.*12+9045A= (n.*12+9045A=) n.231+12200A= | |
| 5 | g.148994682G>A | CA650763960 | SH3TC2 | c.*10029C>T (n.*10029C>T) c.*12+9044C>T (n.*12+9044C>T) n.231+12199C>T | COSMIC |
| 5 | g.148994683A= | CA1590297840 | SH3TC2 | c.*10028T= (n.*10028T=) c.*12+9043T= (n.*12+9043T=) n.231+12198T= | |
| 5 | g.148994683A>C | CA1590297841 | SH3TC2 | c.*10028T>G (n.*10028T>G) c.*12+9043T>G (n.*12+9043T>G) n.231+12198T>G | dbSNP |
| 5 | g.148994683A>G | CA805483770 | SH3TC2 | c.*10028T>C (n.*10028T>C) c.*12+9043T>C (n.*12+9043T>C) n.231+12198T>C | dbSNP |
| 5 | g.148994683_148994699delinsAATGGATGGATGGAAGG | CA1590297842 | SH3TC2 | c.*10012_*10028delinsCCTTCCATCCATCCATT (n.*10012_*10028delinsCCTTCCATCCATCCATT) c.*12+9027_*12+9043delinsCCTTCCATCCATCCATT (n.*12+9027_*12+9043delinsCCTTCCATCCATCCATT) n.231+12182_231+12198delinsCCTTCCATCCATCCATT | |
| 5 | g.148994683_148994727delinsAATGGATGGATGGAAGGATGGATGGATGGATGGATGGATGGATGG | CA1590297843 | SH3TC2 | c.*9984_*10028delinsCCATCCATCCATCCATCCATCCATCCATCCTTCCATCCATCCATT (n.*9984_*10028delinsCCATCCATCCATCCATCCATCCATCCATCCTTCCATCCATCCATT) c.*12+8999_*12+9043delinsCCATCCATCCATCCATCCATCCATCCATCCTTCCATCCATCCATT (n.*12+8999_*12+9043delinsCCATCCATCCATCCATCCATCCATCCATCCTTCCATCCATCCATT) n.231+12154_231+12198delinsCCATCCATCCATCCATCCATCCATCCATCCTTCCATCCATCCATT | |
| 5 | g.148994693_148994696dup | CA1590297844 | SH3TC2 | c.*10024_*10027dup (n.*10024_*10027dup) c.*12+9039_*12+9042dup (n.*12+9039_*12+9042dup) n.231+12194_231+12197dup | dbSNP |
| 5 | g.148994689_148994696dup | CA1590297847 | SH3TC2 | c.*10020_*10027dup (n.*10020_*10027dup) c.*12+9035_*12+9042dup (n.*12+9035_*12+9042dup) n.231+12190_231+12197dup | dbSNP |
| 5 | g.148994697_148994712del | CA1590297846 | SH3TC2 | c.*10012_*10027del (n.*10012_*10027del) c.*12+9027_*12+9042del (n.*12+9027_*12+9042del) n.231+12182_231+12197del | dbSNP |
| 5 | g.148994695_148994738del | CA1590297845 | SH3TC2 | c.*9984_*10027del (n.*9984_*10027del) c.*12+8999_*12+9042del (n.*12+8999_*12+9042del) n.231+12154_231+12197del | dbSNP |
| 5 | g.148994685T>A | CA805483771 | SH3TC2 | c.*10026A>T (n.*10026A>T) c.*12+9041A>T (n.*12+9041A>T) n.231+12196A>T | dbSNP |
| 5 | g.148994685T= | CA1590297848 | SH3TC2 | c.*10026A= (n.*10026A=) c.*12+9041A= (n.*12+9041A=) n.231+12196A= | |
| 5 | g.148994685_148994697delinsTGGATGGATGGAA | CA1590297849 | SH3TC2 | c.*10014_*10026delinsTTCCATCCATCCA (n.*10014_*10026delinsTTCCATCCATCCA) c.*12+9029_*12+9041delinsTTCCATCCATCCA (n.*12+9029_*12+9041delinsTTCCATCCATCCA) n.231+12184_231+12196delinsTTCCATCCATCCA | |
| 5 | g.148994689_148994690insTGATGGAAGGAT | CA1082791849 | SH3TC2 | c.*10025_*10026insTTCCATCAATCC (n.*10025_*10026insTTCCATCAATCC) c.*12+9040_*12+9041insTTCCATCAATCC (n.*12+9040_*12+9041insTTCCATCAATCC) n.231+12195_231+12196insTTCCATCAATCC | gnomAD v3 gnomAD v4 |
| 5 | g.148994697_148994708del | CA563537171 | SH3TC2 | c.*10014_*10025del (n.*10014_*10025del) c.*12+9029_*12+9040del (n.*12+9029_*12+9040del) n.231+12184_231+12195del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.148994689T>A | CA10623379 | SH3TC2 | c.*10022A>T (n.*10022A>T) c.*12+9037A>T (n.*12+9037A>T) n.231+12192A>T | ClinVar dbSNP COSMIC |
| 5 | g.148994689T= | CA1590297850 | SH3TC2 | c.*10022A= (n.*10022A=) c.*12+9037A= (n.*12+9037A=) n.231+12192A= | |
| 5 | g.148994692A= | CA1590297851 | SH3TC2 | c.*10019T= (n.*10019T=) c.*12+9034T= (n.*12+9034T=) n.231+12189T= | |
| 5 | g.148994692A>G | CA128989101 | SH3TC2 | c.*10019T>C (n.*10019T>C) c.*12+9034T>C (n.*12+9034T>C) n.231+12189T>C | dbSNP |