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.71085201A>G | CA10631459 | SHANK2 | c.912+7221T>C (n.912+7221T>C) c.320+7221T>C c.*475+7221T>C (n.*475+7221T>C) c.56+7221T>C | |
| 11 | g.71085204C= | CA1981315293 | SHANK2 | c.912+7218G= (n.912+7218G=) c.320+7218G= c.*475+7218G= (n.*475+7218G=) c.56+7218G= | |
| 11 | g.71085204C>G | CA1981315294 | SHANK2 | c.912+7218G>C (n.912+7218G>C) c.320+7218G>C c.*475+7218G>C (n.*475+7218G>C) c.56+7218G>C | dbSNP |
| 11 | g.71085209C>A | CA679879537 | SHANK2 | c.912+7213G>T (n.912+7213G>T) c.320+7213G>T c.*475+7213G>T (n.*475+7213G>T) c.56+7213G>T | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.71085209C= | CA1981315295 | SHANK2 | c.912+7213G= (n.912+7213G=) c.320+7213G= c.*475+7213G= (n.*475+7213G=) c.56+7213G= | |
| 11 | g.71085217G>A | CA224326785 | SHANK2 | c.912+7205C>T (n.912+7205C>T) c.320+7205C>T c.*475+7205C>T (n.*475+7205C>T) c.56+7205C>T | dbSNP |
| 11 | g.71085217G= | CA1981315296 | SHANK2 | c.912+7205C= (n.912+7205C=) c.320+7205C= c.*475+7205C= (n.*475+7205C=) c.56+7205C= | |
| 11 | g.71085219G>A | CA224326786 | SHANK2 | c.912+7203C>T (n.912+7203C>T) c.320+7203C>T c.*475+7203C>T (n.*475+7203C>T) c.56+7203C>T | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.71085219G= | CA1981315297 | SHANK2 | c.912+7203C= (n.912+7203C=) c.320+7203C= c.*475+7203C= (n.*475+7203C=) c.56+7203C= | |
| 11 | g.71085221T>C | CA224326811 | SHANK2 | c.912+7201A>G (n.912+7201A>G) c.320+7201A>G c.*475+7201A>G (n.*475+7201A>G) c.56+7201A>G | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.71085221T= | CA1981315298 | SHANK2 | c.912+7201A= (n.912+7201A=) c.320+7201A= c.*475+7201A= (n.*475+7201A=) c.56+7201A= | |
| 11 | g.71085222T>C | CA939359008 | SHANK2 | c.912+7200A>G (n.912+7200A>G) c.320+7200A>G c.*475+7200A>G (n.*475+7200A>G) c.56+7200A>G | gnomAD v3 gnomAD v4 |
| 11 | g.71085223G>A | CA939359010 | SHANK2 | c.912+7199C>T (n.912+7199C>T) c.320+7199C>T c.*475+7199C>T (n.*475+7199C>T) c.56+7199C>T | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.71085223G= | CA1981315299 | SHANK2 | c.912+7199C= (n.912+7199C=) c.320+7199C= c.*475+7199C= (n.*475+7199C=) c.56+7199C= | |
| 11 | g.71085225G>C | CA224326822 | SHANK2 | c.912+7197C>G (n.912+7197C>G) c.320+7197C>G c.*475+7197C>G (n.*475+7197C>G) c.56+7197C>G | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.71085225G= | CA1981315300 | SHANK2 | c.912+7197C= (n.912+7197C=) c.320+7197C= c.*475+7197C= (n.*475+7197C=) c.56+7197C= | |
| 11 | g.71085227A>C | CA939359012 | SHANK2 | c.912+7195T>G (n.912+7195T>G) c.320+7195T>G c.*475+7195T>G (n.*475+7195T>G) c.56+7195T>G | gnomAD v3 gnomAD v4 |
| 11 | g.71085227A>T | CA939359013 | SHANK2 | c.912+7195T>A (n.912+7195T>A) c.320+7195T>A c.*475+7195T>A (n.*475+7195T>A) c.56+7195T>A | gnomAD v3 gnomAD v4 |
| 11 | g.71085228G>A | CA939359014 | SHANK2 | c.912+7194C>T (n.912+7194C>T) c.320+7194C>T c.*475+7194C>T (n.*475+7194C>T) c.56+7194C>T | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.71085228G>C | CA939359015 | SHANK2 | c.912+7194C>G (n.912+7194C>G) c.320+7194C>G c.*475+7194C>G (n.*475+7194C>G) c.56+7194C>G | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.71085228G= | CA1981315301 | SHANK2 | c.912+7194C= (n.912+7194C=) c.320+7194C= c.*475+7194C= (n.*475+7194C=) c.56+7194C= | |
| 11 | g.71085230G>A | CA2564844445 | SHANK2 | c.912+7192C>T (n.912+7192C>T) c.320+7192C>T c.*475+7192C>T (n.*475+7192C>T) c.56+7192C>T | |
| 11 | g.71085230G>C | CA224326823 | SHANK2 | c.912+7192C>G (n.912+7192C>G) c.320+7192C>G c.*475+7192C>G (n.*475+7192C>G) c.56+7192C>G | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.71085230G= | CA1981315302 | SHANK2 | c.912+7192C= (n.912+7192C=) c.320+7192C= c.*475+7192C= (n.*475+7192C=) c.56+7192C= | |
| 11 | g.71085231C>A | CA1981315304 | SHANK2 | c.912+7191G>T (n.912+7191G>T) c.320+7191G>T c.*475+7191G>T (n.*475+7191G>T) c.56+7191G>T | dbSNP |
| 11 | g.71085231C= | CA1981315303 | SHANK2 | c.912+7191G= (n.912+7191G=) c.320+7191G= c.*475+7191G= (n.*475+7191G=) c.56+7191G= | |
| 11 | g.71085232A>G | CA939359016 | SHANK2 | c.912+7190T>C (n.912+7190T>C) c.320+7190T>C c.*475+7190T>C (n.*475+7190T>C) c.56+7190T>C | gnomAD v3 gnomAD v4 |
| 11 | g.71085234_71085236delinsATC | CA1981315305 | SHANK2 | c.912+7186_912+7188delinsGAT (n.912+7186_912+7188delinsGAT) c.320+7186_320+7188delinsGAT c.*475+7186_*475+7188delinsGAT (n.*475+7186_*475+7188delinsGAT) c.56+7186_56+7188delinsGAT | |
| 11 | g.71085235T>A | CA679879542 | SHANK2 | c.912+7187A>T (n.912+7187A>T) c.320+7187A>T c.*475+7187A>T (n.*475+7187A>T) c.56+7187A>T | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.71085235T>C | CA1981315307 | SHANK2 | c.912+7187A>G (n.912+7187A>G) c.320+7187A>G c.*475+7187A>G (n.*475+7187A>G) c.56+7187A>G | dbSNP |
| 11 | g.71085235T= | CA1981315306 | SHANK2 | c.912+7187A= (n.912+7187A=) c.320+7187A= c.*475+7187A= (n.*475+7187A=) c.56+7187A= | |
| 11 | g.71085235_71085236del | CA1981315308 | SHANK2 | c.912+7186_912+7187del (n.912+7186_912+7187del) c.320+7186_320+7187del c.*475+7186_*475+7187del (n.*475+7186_*475+7187del) c.56+7186_56+7187del | dbSNP |
| 11 | g.71085236C>A | CA224326836 | SHANK2 | c.912+7186G>T (n.912+7186G>T) c.320+7186G>T c.*475+7186G>T (n.*475+7186G>T) c.56+7186G>T | dbSNP |
| 11 | g.71085236C= | CA1981315309 | SHANK2 | c.912+7186G= (n.912+7186G=) c.320+7186G= c.*475+7186G= (n.*475+7186G=) c.56+7186G= | |
| 11 | g.71085241G>A | CA939359017 | SHANK2 | c.912+7181C>T (n.912+7181C>T) c.320+7181C>T c.*475+7181C>T (n.*475+7181C>T) c.56+7181C>T | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.71085241G>C | CA1981315311 | SHANK2 | c.912+7181C>G (n.912+7181C>G) c.320+7181C>G c.*475+7181C>G (n.*475+7181C>G) c.56+7181C>G | dbSNP |
| 11 | g.71085241G= | CA1981315310 | SHANK2 | c.912+7181C= (n.912+7181C=) c.320+7181C= c.*475+7181C= (n.*475+7181C=) c.56+7181C= | |
| 11 | g.71085242A= | CA1981315312 | SHANK2 | c.912+7180T= (n.912+7180T=) c.320+7180T= c.*475+7180T= (n.*475+7180T=) c.56+7180T= | |
| 11 | g.71085242A>T | CA939359018 | SHANK2 | c.912+7180T>A (n.912+7180T>A) c.320+7180T>A c.*475+7180T>A (n.*475+7180T>A) c.56+7180T>A | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.71085243G>A | CA1981315314 | SHANK2 | c.912+7179C>T (n.912+7179C>T) c.320+7179C>T c.*475+7179C>T (n.*475+7179C>T) c.56+7179C>T | dbSNP |
| 11 | g.71085243G= | CA1981315313 | SHANK2 | c.912+7179C= (n.912+7179C=) c.320+7179C= c.*475+7179C= (n.*475+7179C=) c.56+7179C= | |
| 11 | g.71085246C= | CA1981315315 | SHANK2 | c.912+7176G= (n.912+7176G=) c.320+7176G= c.*475+7176G= (n.*475+7176G=) c.56+7176G= | |
| 11 | g.71085246C>T | CA1981315316 | SHANK2 | c.912+7176G>A (n.912+7176G>A) c.320+7176G>A c.*475+7176G>A (n.*475+7176G>A) c.56+7176G>A | dbSNP |
| 11 | g.71085248G>A | CA2792612917 | SHANK2 | c.912+7174C>T (n.912+7174C>T) c.320+7174C>T c.*475+7174C>T (n.*475+7174C>T) c.56+7174C>T | |
| 11 | g.71085249G>A | CA1981315318 | SHANK2 | c.912+7173C>T (n.912+7173C>T) c.320+7173C>T c.*475+7173C>T (n.*475+7173C>T) c.56+7173C>T | dbSNP |
| 11 | g.71085249G= | CA1981315317 | SHANK2 | c.912+7173C= (n.912+7173C=) c.320+7173C= c.*475+7173C= (n.*475+7173C=) c.56+7173C= | |
| 11 | g.71085251G= | CA1981315319 | SHANK2 | c.912+7171C= (n.912+7171C=) c.320+7171C= c.*475+7171C= (n.*475+7171C=) c.56+7171C= | |
| 11 | g.71085251G>T | CA224326846 | SHANK2 | c.912+7171C>A (n.912+7171C>A) c.320+7171C>A c.*475+7171C>A (n.*475+7171C>A) c.56+7171C>A | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.71085252T>A | CA2792612918 | SHANK2 | c.912+7170A>T (n.912+7170A>T) c.320+7170A>T c.*475+7170A>T (n.*475+7170A>T) c.56+7170A>T | |
| 11 | g.71085252T>C | CA224326858 | SHANK2 | c.912+7170A>G (n.912+7170A>G) c.320+7170A>G c.*475+7170A>G (n.*475+7170A>G) c.56+7170A>G | dbSNP gnomAD v3 gnomAD v4 |