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.71084213T>C | CA939358855 | SHANK2 | c.912+8209A>G (n.912+8209A>G) c.320+8209A>G c.*475+8209A>G (n.*475+8209A>G) c.56+8209A>G | gnomAD v3 gnomAD v4 |
| 11 | g.71084214G>A | CA939358856 | SHANK2 | c.912+8208C>T (n.912+8208C>T) c.320+8208C>T c.*475+8208C>T (n.*475+8208C>T) c.56+8208C>T | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.71084214G= | CA1981314861 | SHANK2 | c.912+8208C= (n.912+8208C=) c.320+8208C= c.*475+8208C= (n.*475+8208C=) c.56+8208C= | |
| 11 | g.71084215C= | CA1981314863 | SHANK2 | c.912+8207G= (n.912+8207G=) c.320+8207G= c.*475+8207G= (n.*475+8207G=) c.56+8207G= | |
| 11 | g.71084215C>T | CA1981314862 | SHANK2 | c.912+8207G>A (n.912+8207G>A) c.320+8207G>A c.*475+8207G>A (n.*475+8207G>A) c.56+8207G>A | dbSNP |
| 11 | g.71084217C= | CA1981314864 | SHANK2 | c.912+8205G= (n.912+8205G=) c.320+8205G= c.*475+8205G= (n.*475+8205G=) c.56+8205G= | |
| 11 | g.71084217C>G | CA2724354471 | SHANK2 | c.912+8205G>C (n.912+8205G>C) c.320+8205G>C c.*475+8205G>C (n.*475+8205G>C) c.56+8205G>C | dbSNP |
| 11 | g.71084217C>T | CA939358857 | SHANK2 | c.912+8205G>A (n.912+8205G>A) c.320+8205G>A c.*475+8205G>A (n.*475+8205G>A) c.56+8205G>A | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.71084218G>A | CA679878876 | SHANK2 | c.912+8204C>T (n.912+8204C>T) c.320+8204C>T c.*475+8204C>T (n.*475+8204C>T) c.56+8204C>T | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.71084218G= | CA1981314865 | SHANK2 | c.912+8204C= (n.912+8204C=) c.320+8204C= c.*475+8204C= (n.*475+8204C=) c.56+8204C= | |
| 11 | g.71084218G>T | CA679878880 | SHANK2 | c.912+8204C>A (n.912+8204C>A) c.320+8204C>A c.*475+8204C>A (n.*475+8204C>A) c.56+8204C>A | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.71084222T>C | CA939358859 | SHANK2 | c.912+8200A>G (n.912+8200A>G) c.320+8200A>G c.*475+8200A>G (n.*475+8200A>G) c.56+8200A>G | gnomAD v3 gnomAD v4 |
| 11 | g.71084225T>C | CA939358860 | SHANK2 | c.912+8197A>G (n.912+8197A>G) c.320+8197A>G c.*475+8197A>G (n.*475+8197A>G) c.56+8197A>G | gnomAD v3 gnomAD v4 |
| 11 | g.71084235T>C | CA679878885 | SHANK2 | c.912+8187A>G (n.912+8187A>G) c.320+8187A>G c.*475+8187A>G (n.*475+8187A>G) c.56+8187A>G | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.71084235T= | CA1981314866 | SHANK2 | c.912+8187A= (n.912+8187A=) c.320+8187A= c.*475+8187A= (n.*475+8187A=) c.56+8187A= | |
| 11 | g.71084239G>A | CA1981314868 | SHANK2 | c.912+8183C>T (n.912+8183C>T) c.320+8183C>T c.*475+8183C>T (n.*475+8183C>T) c.56+8183C>T | dbSNP |
| 11 | g.71084239G= | CA1981314867 | SHANK2 | c.912+8183C= (n.912+8183C=) c.320+8183C= c.*475+8183C= (n.*475+8183C=) c.56+8183C= | |
| 11 | g.71084240del | CA2792612888 | SHANK2 | c.912+8182del (n.912+8182del) c.320+8182del c.*475+8182del (n.*475+8182del) c.56+8182del | |
| 11 | g.71084240C= | CA1981314869 | SHANK2 | c.912+8182G= (n.912+8182G=) c.320+8182G= c.*475+8182G= (n.*475+8182G=) c.56+8182G= | |
| 11 | g.71084240C>G | CA224326253 | SHANK2 | c.912+8182G>C (n.912+8182G>C) c.320+8182G>C c.*475+8182G>C (n.*475+8182G>C) c.56+8182G>C | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.71084240C>T | CA939358864 | SHANK2 | c.912+8182G>A (n.912+8182G>A) c.320+8182G>A c.*475+8182G>A (n.*475+8182G>A) c.56+8182G>A | dbSNP |
| 11 | g.71084241G= | CA1981314870 | SHANK2 | c.912+8181C= (n.912+8181C=) c.320+8181C= c.*475+8181C= (n.*475+8181C=) c.56+8181C= | |
| 11 | g.71084241G>T | CA1981314871 | SHANK2 | c.912+8181C>A (n.912+8181C>A) c.320+8181C>A c.*475+8181C>A (n.*475+8181C>A) c.56+8181C>A | dbSNP |
| 11 | g.71084242A= | CA1981314872 | SHANK2 | c.912+8180T= (n.912+8180T=) c.320+8180T= c.*475+8180T= (n.*475+8180T=) c.56+8180T= | |
| 11 | g.71084242A>T | CA679878888 | SHANK2 | c.912+8180T>A (n.912+8180T>A) c.320+8180T>A c.*475+8180T>A (n.*475+8180T>A) c.56+8180T>A | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.71084243T>C | CA679878899 | SHANK2 | c.912+8179A>G (n.912+8179A>G) c.320+8179A>G c.*475+8179A>G (n.*475+8179A>G) c.56+8179A>G | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.71084243T= | CA1981314873 | SHANK2 | c.912+8179A= (n.912+8179A=) c.320+8179A= c.*475+8179A= (n.*475+8179A=) c.56+8179A= | |
| 11 | g.71084244T>C | CA224326260 | SHANK2 | c.912+8178A>G (n.912+8178A>G) c.320+8178A>G c.*475+8178A>G (n.*475+8178A>G) c.56+8178A>G | dbSNP |
| 11 | g.71084244T= | CA1981314874 | SHANK2 | c.912+8178A= (n.912+8178A=) c.320+8178A= c.*475+8178A= (n.*475+8178A=) c.56+8178A= | |
| 11 | g.71084245A= | CA1981314875 | SHANK2 | c.912+8177T= (n.912+8177T=) c.320+8177T= c.*475+8177T= (n.*475+8177T=) c.56+8177T= | |
| 11 | g.71084245A>G | CA1981314876 | SHANK2 | c.912+8177T>C (n.912+8177T>C) c.320+8177T>C c.*475+8177T>C (n.*475+8177T>C) c.56+8177T>C | dbSNP |
| 11 | g.71084246C= | CA1981314878 | SHANK2 | c.912+8176G= (n.912+8176G=) c.320+8176G= c.*475+8176G= (n.*475+8176G=) c.56+8176G= | |
| 11 | g.71084246C>T | CA679878902 | SHANK2 | c.912+8176G>A (n.912+8176G>A) c.320+8176G>A c.*475+8176G>A (n.*475+8176G>A) c.56+8176G>A | dbSNP |
| 11 | g.71084248_71084251dup | CA1981314877 | SHANK2 | c.912+8173_912+8176dup (n.912+8173_912+8176dup) c.320+8173_320+8176dup c.*475+8173_*475+8176dup (n.*475+8173_*475+8176dup) c.56+8173_56+8176dup | dbSNP |
| 11 | g.71084248G>A | CA2792612889 | SHANK2 | c.912+8174C>T (n.912+8174C>T) c.320+8174C>T c.*475+8174C>T (n.*475+8174C>T) c.56+8174C>T | |
| 11 | g.71084249G>A | CA224326261 | SHANK2 | c.912+8173C>T (n.912+8173C>T) c.320+8173C>T c.*475+8173C>T (n.*475+8173C>T) c.56+8173C>T | dbSNP |
| 11 | g.71084249G= | CA1981314879 | SHANK2 | c.912+8173C= (n.912+8173C=) c.320+8173C= c.*475+8173C= (n.*475+8173C=) c.56+8173C= | |
| 11 | g.71084249_71084256delinsGCATAAGC | CA1981314880 | SHANK2 | c.912+8166_912+8173delinsGCTTATGC (n.912+8166_912+8173delinsGCTTATGC) c.320+8166_320+8173delinsGCTTATGC c.*475+8166_*475+8173delinsGCTTATGC (n.*475+8166_*475+8173delinsGCTTATGC) c.56+8166_56+8173delinsGCTTATGC | |
| 11 | g.71084252_71084258del | CA939358866 | SHANK2 | c.912+8166_912+8172del (n.912+8166_912+8172del) c.320+8166_320+8172del c.*475+8166_*475+8172del (n.*475+8166_*475+8172del) c.56+8166_56+8172del | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.71084251A>G | CA939358868 | SHANK2 | c.912+8171T>C (n.912+8171T>C) c.320+8171T>C c.*475+8171T>C (n.*475+8171T>C) c.56+8171T>C | gnomAD v3 gnomAD v4 |
| 11 | g.71084252T>C | CA224326263 | SHANK2 | c.912+8170A>G (n.912+8170A>G) c.320+8170A>G c.*475+8170A>G (n.*475+8170A>G) c.56+8170A>G | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.71084252T= | CA1981314881 | SHANK2 | c.912+8170A= (n.912+8170A=) c.320+8170A= c.*475+8170A= (n.*475+8170A=) c.56+8170A= | |
| 11 | g.71084253A= | CA1981314882 | SHANK2 | c.912+8169T= (n.912+8169T=) c.320+8169T= c.*475+8169T= (n.*475+8169T=) c.56+8169T= | |
| 11 | g.71084253A>G | CA2501695142 | SHANK2 | c.912+8169T>C (n.912+8169T>C) c.320+8169T>C c.*475+8169T>C (n.*475+8169T>C) c.56+8169T>C | |
| 11 | g.71084253A>T | CA679878908 | SHANK2 | c.912+8169T>A (n.912+8169T>A) c.320+8169T>A c.*475+8169T>A (n.*475+8169T>A) c.56+8169T>A | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.71084255G>T | CA2598832556 | SHANK2 | c.912+8167C>A (n.912+8167C>A) c.320+8167C>A c.*475+8167C>A (n.*475+8167C>A) c.56+8167C>A | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.71084256C= | CA1981314883 | SHANK2 | c.912+8166G= (n.912+8166G=) c.320+8166G= c.*475+8166G= (n.*475+8166G=) c.56+8166G= | |
| 11 | g.71084256C>T | CA679878911 | SHANK2 | c.912+8166G>A (n.912+8166G>A) c.320+8166G>A c.*475+8166G>A (n.*475+8166G>A) c.56+8166G>A | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.71084257C>A | CA939358870 | SHANK2 | c.912+8165G>T (n.912+8165G>T) c.320+8165G>T c.*475+8165G>T (n.*475+8165G>T) c.56+8165G>T | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.71084257C= | CA1981314884 | SHANK2 | c.912+8165G= (n.912+8165G=) c.320+8165G= c.*475+8165G= (n.*475+8165G=) c.56+8165G= |