Allele Registry

Amino-acid Alleles

HGVS (amino-acid)

Transcript change

ENSP00000452477.1:p.Glu68del

ENST00000553599.5:c.[189_191del;195A=;198...

ENST00000553599.5:c.[189_191del;195A>G;19...

ENST00000553599.5:c.[189_191del;198T>A;20...

ENST00000553599.5:c.[189_191del;198T>G;20...

ENST00000553599.5:c.[202_204del;207G>A;20...

ENST00000553599.5:c.[202_204del;207G>A;21...

ENST00000553599.5:c.[202_204del;207G>A;22...

ENST00000553599.5:c.[202_204del;207G>A;23...

ENST00000553599.5:c.[202_204del;207G>A;24...

ENST00000553599.5:c.[202_204del;207G>A;25...

ENST00000553599.5:c.[202_204del;207G>A;26...

ENST00000553599.5:c.[202_204del;207G>A;27...

ENST00000553599.5:c.[202_204del;207G>C;20...

ENST00000553599.5:c.[202_204del;207G>C;21...

ENST00000553599.5:c.[202_204del;207G>C;22...

ENST00000553599.5:c.[202_204del;207G>C;23...

ENST00000553599.5:c.[202_204del;207G>C;24...

ENST00000553599.5:c.[202_204del;207G>C;25...

ENST00000553599.5:c.[202_204del;207G>C;26...

ENST00000553599.5:c.[202_204del;207G>C;27...

ENST00000553599.5:c.[202_204del;207G=;208...

ENST00000553599.5:c.[202_204del;207G=;210...

ENST00000553599.5:c.[202_204del;207G=;211...

ENST00000553599.5:c.[202_204del;207G=;213...

ENST00000553599.5:c.[202_204del;207G=;216...

ENST00000553599.5:c.[202_204del;207G=;218...

ENST00000553599.5:c.[202_204del;207G=;219...

ENST00000553599.5:c.[202_204del;207G=;222...

ENST00000553599.5:c.[202_204del;207G=;223...

ENST00000553599.5:c.[202_204del;207G=;224...

ENST00000553599.5:c.[202_204del;207G=;225...

ENST00000553599.5:c.[202_204del;207G=;227...

ENST00000553599.5:c.[202_204del;207G=;228...

ENST00000553599.5:c.[202_204del;207G=;231...

ENST00000553599.5:c.[202_204del;207G=;232...

ENST00000553599.5:c.[202_204del;207G=;234...

ENST00000553599.5:c.[202_204del;207G=;237...

ENST00000553599.5:c.[202_204del;207G=;238...

ENST00000553599.5:c.[202_204del;207G=;239...

ENST00000553599.5:c.[202_204del;207G=;241...

ENST00000553599.5:c.[202_204del;207G=;242...

ENST00000553599.5:c.[202_204del;207G=;243...

ENST00000553599.5:c.[202_204del;207G=;245...

ENST00000553599.5:c.[202_204del;207G=;246...

ENST00000553599.5:c.[202_204del;207G=;247...

ENST00000553599.5:c.[202_204del;207G=;249...

ENST00000553599.5:c.[202_204del;207G=;250...

ENST00000553599.5:c.[202_204del;207G=;251...

ENST00000553599.5:c.[202_204del;207G=;252...

ENST00000553599.5:c.[202_204del;207G=;253...

ENST00000553599.5:c.[202_204del;207G=;255...

ENST00000553599.5:c.[202_204del;207G=;257...

ENST00000553599.5:c.[202_204del;207G=;258...

ENST00000553599.5:c.[202_204del;207G=;259...

ENST00000553599.5:c.[202_204del;207G=;261...

ENST00000553599.5:c.[202_204del;207G=;263...

ENST00000553599.5:c.[202_204del;207G=;264...

ENST00000553599.5:c.[202_204del;207G=;265...

ENST00000553599.5:c.[202_204del;207G=;267...

ENST00000553599.5:c.[202_204del;207G=;268...

ENST00000553599.5:c.[202_204del;207G=;270...

ENST00000553599.5:c.[202_204del;207G>T;20...

ENST00000553599.5:c.[202_204del;207G>T;21...

ENST00000553599.5:c.[202_204del;207G>T;22...

ENST00000553599.5:c.[202_204del;207G>T;23...

ENST00000553599.5:c.[202_204del;207G>T;24...

ENST00000553599.5:c.[202_204del;207G>T;25...

ENST00000553599.5:c.[202_204del;207G>T;26...

ENST00000553599.5:c.[202_204del;207G>T;27...

ENST00000553599.5:c.[202_204del;208A=]

ENST00000553599.5:c.[202_204del;210A>C]

ENST00000553599.5:c.[202_204del;210A>G]

ENST00000553599.5:c.[202_204del;210A>T]

ENST00000553599.5:c.[202_204del;211T>C]

ENST00000553599.5:c.[202_204del;211T=]

ENST00000553599.5:c.[202_204del;213G>A]

ENST00000553599.5:c.[202_204del;213G=]

ENST00000553599.5:c.[202_204del;216A>G]

ENST00000553599.5:c.[202_204del;218A=]

ENST00000553599.5:c.[202_204del;219T>C]

ENST00000553599.5:c.[202_204del;219T=]

ENST00000553599.5:c.[202_204del;222C>A]

ENST00000553599.5:c.[202_204del;222C=]

ENST00000553599.5:c.[202_204del;222C>G]

ENST00000553599.5:c.[202_204del;222C>T]

ENST00000553599.5:c.[202_204del;223G=]

ENST00000553599.5:c.[202_204del;224C=]

ENST00000553599.5:c.[202_204del;225C>A]

ENST00000553599.5:c.[202_204del;225C>G]

ENST00000553599.5:c.[202_204del;225C>T]

ENST00000553599.5:c.[202_204del;227A=]

ENST00000553599.5:c.[202_204del;228G>A]

ENST00000553599.5:c.[202_204del;228G=]

ENST00000553599.5:c.[202_204del;231T>C]

ENST00000553599.5:c.[202_204del;231T=]

ENST00000553599.5:c.[202_204del;232G=]

ENST00000553599.5:c.[202_204del;232_238de...

ENST00000553599.5:c.[202_204del;234G>A]

ENST00000553599.5:c.[202_204del;234G>C]

ENST00000553599.5:c.[202_204del;234G>T]

ENST00000553599.5:c.[202_204del;237C>A]

ENST00000553599.5:c.[202_204del;237C>T]

ENST00000553599.5:c.[202_204del;238A=]

ENST00000553599.5:c.[202_204del;239T=]

ENST00000553599.5:c.[202_204del;241C>T;24...

ENST00000553599.5:c.[202_204del;242T=]

ENST00000553599.5:c.[202_204del;243C>A]

ENST00000553599.5:c.[202_204del;243C=]

ENST00000553599.5:c.[202_204del;243C>G]

ENST00000553599.5:c.[202_204del;243C>T]

ENST00000553599.5:c.[202_204del;245T=]

ENST00000553599.5:c.[202_204del;246T>C]

ENST00000553599.5:c.[202_204del;247G=]

ENST00000553599.5:c.[202_204del;249C>A]

ENST00000553599.5:c.[202_204del;249C=]

ENST00000553599.5:c.[202_204del;249C>G]

ENST00000553599.5:c.[202_204del;249C>T]

ENST00000553599.5:c.[202_204del;250C=]

ENST00000553599.5:c.[202_204del;251C=]

ENST00000553599.5:c.[202_204del;252T>A]

ENST00000553599.5:c.[202_204del;252T>C]

ENST00000553599.5:c.[202_204del;252T>G]

ENST00000553599.5:c.[202_204del;252T=]

ENST00000553599.5:c.[202_204del;253G=]

ENST00000553599.5:c.[202_204del;255G>A]

ENST00000553599.5:c.[202_204del;255G>C]

ENST00000553599.5:c.[202_204del;255G>T]

ENST00000553599.5:c.[202_204del;257C=]

ENST00000553599.5:c.[202_204del;258T>A]

ENST00000553599.5:c.[202_204del;258T>C]

ENST00000553599.5:c.[202_204del;258T>G]

ENST00000553599.5:c.[202_204del;259C=]

ENST00000553599.5:c.[202_204del;259C>T;26...

ENST00000553599.5:c.[202_204del;261C>A]

ENST00000553599.5:c.[202_204del;261C>G]

ENST00000553599.5:c.[202_204del;261C>T]

ENST00000553599.5:c.[202_204del;263G=]

ENST00000553599.5:c.[202_204del;264C>T]

ENST00000553599.5:c.[202_204del;265A=]

ENST00000553599.5:c.[202_204del;267G=]

ENST00000553599.5:c.[202_204del;268G=]

ENST00000553599.5:c.[202_204del;270G>A]

ENST00000553599.5:c.[202_204del;270G>C]

ENST00000553599.5:c.[202_204del;270G>T]