This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: CDKL5 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Transcript change
ENSP00000485184.1:p.Leu220Pro
ENST00000463994.4:c.[659T>C;661T=]

ENST00000463994.4:c.[659T>C;663T>C]

ENST00000463994.4:c.[659T>C;665C=]

ENST00000463994.4:c.[659T>C;665_666delins...

ENST00000463994.4:c.[659T>C;666T>A]

ENST00000463994.4:c.[659T>C;666T>C]

ENST00000463994.4:c.[659T>C;666T>G]

ENST00000463994.4:c.[659T>C;669T>A]

ENST00000463994.4:c.[659T>C;669T>C]

ENST00000463994.4:c.[659T>C;670C=]

ENST00000463994.4:c.[659T>C;672G>A]

ENST00000463994.4:c.[659T>C;674A=]

ENST00000463994.4:c.[659T>C;675G>A]

ENST00000463994.4:c.[659T>C;678G>A]

ENST00000463994.4:c.[659T>C;678G>C]

ENST00000463994.4:c.[659T>C;678G>T]

ENST00000463994.4:c.[659T>C;678_691delins...

ENST00000463994.4:c.[659T>C;679C>T]

ENST00000463994.4:c.[659T>C;680T=]

ENST00000463994.4:c.[659T>C;681A=]

ENST00000463994.4:c.[659T>C;681A>C]

ENST00000463994.4:c.[659T>C;681A>G]

ENST00000463994.4:c.[659T>C;681A>T]

ENST00000463994.4:c.[659T>C;684A>C]

ENST00000463994.4:c.[659T>C;684A>G]

ENST00000463994.4:c.[659T>C;684A>T]

ENST00000463994.4:c.[659T>C;686C=]

ENST00000463994.4:c.[659T>C;687A=]

ENST00000463994.4:c.[659T>C;687A>C]

ENST00000463994.4:c.[659T>C;687A>G]

ENST00000463994.4:c.[659T>C;687A>T]

ENST00000463994.4:c.[659T>C;688C=]

ENST00000463994.4:c.[659T>C;688C>T;690T>A...

ENST00000463994.4:c.[659T>C;688C>T;690T>G...

ENST00000463994.4:c.[659T>C;689T=]

ENST00000463994.4:c.[659T>C;690T>A]

ENST00000463994.4:c.[659T>C;690T>C]

ENST00000463994.4:c.[659T>C;690T>G]

ENST00000463994.4:c.[659T>C;692_693delins...

ENST00000463994.4:c.[659T>C;693A>C]

ENST00000463994.4:c.[659T>C;693A>G]

ENST00000463994.4:c.[659T>C;693A>T]

ENST00000463994.4:c.[659T>C;694T=]

ENST00000463994.4:c.[659T>C;696T>A]

ENST00000463994.4:c.[659T>C;696T>C]

ENST00000463994.4:c.[659T>C;696T>G]

ENST00000463994.4:c.[659T>C;697G=]

ENST00000463994.4:c.[659T>C;699G>A]

ENST00000463994.4:c.[659T>C;700C=]

ENST00000463994.4:c.[659T>C;702G>A]

ENST00000463994.4:c.[659T>C;703A=]

ENST00000463994.4:c.[659T>C;708G>A]

ENST00000463994.4:c.[659T>C;709C>T;711T>A...

ENST00000463994.4:c.[659T>C;709C>T;711T>G...

ENST00000463994.4:c.[659T>C;709_710delins...

ENST00000463994.4:c.[659T>C;711T>A]

ENST00000463994.4:c.[659T>C;711T>C]

ENST00000463994.4:c.[659T>C;711T>G]

ENST00000463994.4:c.[659T>C;714C>T]

ENST00000463994.4:c.[659T>C;717C>T]

ENST00000463994.4:c.[659T>C;718A=]

ENST00000463994.4:c.[659T>C;719G=]

ENST00000463994.4:c.[659T>C;720T>C]

ENST00000463994.4:c.[659T>C;723T>C]

ENST00000463994.4:c.[659T>C;723T=]

ENST00000463994.4:c.[659T>C;723_724delins...

ENST00000463994.4:c.[659T>C;724C=]

ENST00000463994.4:c.[659T>C;726T>A]

ENST00000463994.4:c.[659T>C;726T>C]

ENST00000463994.4:c.[659T>C;726T>G]

ENST00000463994.4:c.[659T>C;727C>A;729C>A...

ENST00000463994.4:c.[659T>C;727C>A;729C>G...

ENST00000463994.4:c.[659T>C;727C=]

ENST00000463994.4:c.[659T>C;728G=]

ENST00000463994.4:c.[659T>C;729C>A]

ENST00000463994.4:c.[659T>C;729C=]

ENST00000463994.4:c.[659T>C;729C>G]

ENST00000463994.4:c.[659T>C;729C>T]

ENST00000463994.4:c.[659T>C;732C=]

ENST00000463994.4:c.[659T>C;732C>T]

ENST00000463994.4:c.[659T>C;734A=]

ENST00000463994.4:c.[659T>C;735T>C]

ENST00000463994.4:c.[659T>C;738G>A]

ENST00000463994.4:c.[659T>C;738G>C]

ENST00000463994.4:c.[659T>C;738G>T]

ENST00000463994.4:c.[659T>C;739C>T;741C>A...

ENST00000463994.4:c.[659T>C;739C>T;741C>G...

ENST00000463994.4:c.[659T>C;741C>A]

ENST00000463994.4:c.[659T>C;741C=]

ENST00000463994.4:c.[659T>C;741C>G]

ENST00000463994.4:c.[659T>C;741C>T]