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: PSEN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Transcript change
ENSP00000452477.1:p.Ile79_Met80del
ENST00000553599.5:c.[235_240del;242T=;245...

ENST00000553599.5:c.[235_240del;242T=;246...

ENST00000553599.5:c.[235_240del;242T=;247...

ENST00000553599.5:c.[235_240del;242T=;249...

ENST00000553599.5:c.[235_240del;242T=;249...

ENST00000553599.5:c.[235_240del;242T=;249...

ENST00000553599.5:c.[235_240del;242T=;249...

ENST00000553599.5:c.[235_240del;242T=;250...

ENST00000553599.5:c.[235_240del;242T=;251...

ENST00000553599.5:c.[235_240del;242T=;252...

ENST00000553599.5:c.[235_240del;242T=;252...

ENST00000553599.5:c.[235_240del;242T=;252...

ENST00000553599.5:c.[235_240del;242T=;252...

ENST00000553599.5:c.[235_240del;242T=;253...

ENST00000553599.5:c.[235_240del;242T=;255...

ENST00000553599.5:c.[235_240del;242T=;255...

ENST00000553599.5:c.[235_240del;242T=;255...

ENST00000553599.5:c.[235_240del;242T=;257...

ENST00000553599.5:c.[235_240del;242T=;258...

ENST00000553599.5:c.[235_240del;242T=;258...

ENST00000553599.5:c.[235_240del;242T=;258...

ENST00000553599.5:c.[235_240del;242T=;259...

ENST00000553599.5:c.[235_240del;242T=;259...

ENST00000553599.5:c.[235_240del;242T=;259...

ENST00000553599.5:c.[235_240del;242T=;261...

ENST00000553599.5:c.[235_240del;242T=;261...

ENST00000553599.5:c.[235_240del;242T=;261...

ENST00000553599.5:c.[235_240del;242T=;263...

ENST00000553599.5:c.[235_240del;242T=;264...

ENST00000553599.5:c.[235_240del;242T=;265...

ENST00000553599.5:c.[235_240del;242T=;267...

ENST00000553599.5:c.[235_240del;242T=;268...

ENST00000553599.5:c.[235_240del;242T=;270...

ENST00000553599.5:c.[235_240del;242T=;270...

ENST00000553599.5:c.[235_240del;242T=;270...

ENST00000553599.5:c.[235_240del;243C>A;24...

ENST00000553599.5:c.[235_240del;243C>A;24...

ENST00000553599.5:c.[235_240del;243C>A;24...

ENST00000553599.5:c.[235_240del;243C>A;24...

ENST00000553599.5:c.[235_240del;243C>A;24...

ENST00000553599.5:c.[235_240del;243C>A;24...

ENST00000553599.5:c.[235_240del;243C>A;24...

ENST00000553599.5:c.[235_240del;243C>A;25...

ENST00000553599.5:c.[235_240del;243C>A;25...

ENST00000553599.5:c.[235_240del;243C>A;25...

ENST00000553599.5:c.[235_240del;243C>A;25...

ENST00000553599.5:c.[235_240del;243C>A;25...

ENST00000553599.5:c.[235_240del;243C>A;25...

ENST00000553599.5:c.[235_240del;243C>A;25...

ENST00000553599.5:c.[235_240del;243C>A;25...

ENST00000553599.5:c.[235_240del;243C>A;25...

ENST00000553599.5:c.[235_240del;243C>A;25...

ENST00000553599.5:c.[235_240del;243C>A;25...

ENST00000553599.5:c.[235_240del;243C>A;25...

ENST00000553599.5:c.[235_240del;243C>A;25...

ENST00000553599.5:c.[235_240del;243C>A;25...

ENST00000553599.5:c.[235_240del;243C>A;25...

ENST00000553599.5:c.[235_240del;243C>A;25...

ENST00000553599.5:c.[235_240del;243C>A;25...

ENST00000553599.5:c.[235_240del;243C>A;26...

ENST00000553599.5:c.[235_240del;243C>A;26...

ENST00000553599.5:c.[235_240del;243C>A;26...

ENST00000553599.5:c.[235_240del;243C>A;26...

ENST00000553599.5:c.[235_240del;243C>A;26...

ENST00000553599.5:c.[235_240del;243C>A;26...

ENST00000553599.5:c.[235_240del;243C>A;26...

ENST00000553599.5:c.[235_240del;243C>A;26...

ENST00000553599.5:c.[235_240del;243C>A;27...

ENST00000553599.5:c.[235_240del;243C>A;27...

ENST00000553599.5:c.[235_240del;243C>A;27...

ENST00000553599.5:c.[235_240del;243C=;245...

ENST00000553599.5:c.[235_240del;243C=;246...

ENST00000553599.5:c.[235_240del;243C=;247...

ENST00000553599.5:c.[235_240del;243C=;249...

ENST00000553599.5:c.[235_240del;243C=;249...

ENST00000553599.5:c.[235_240del;243C=;249...

ENST00000553599.5:c.[235_240del;243C=;249...

ENST00000553599.5:c.[235_240del;243C=;250...

ENST00000553599.5:c.[235_240del;243C=;251...

ENST00000553599.5:c.[235_240del;243C=;252...

ENST00000553599.5:c.[235_240del;243C=;252...

ENST00000553599.5:c.[235_240del;243C=;252...

ENST00000553599.5:c.[235_240del;243C=;252...

ENST00000553599.5:c.[235_240del;243C=;253...

ENST00000553599.5:c.[235_240del;243C=;255...

ENST00000553599.5:c.[235_240del;243C=;255...

ENST00000553599.5:c.[235_240del;243C=;255...

ENST00000553599.5:c.[235_240del;243C=;257...

ENST00000553599.5:c.[235_240del;243C=;258...

ENST00000553599.5:c.[235_240del;243C=;258...

ENST00000553599.5:c.[235_240del;243C=;258...

ENST00000553599.5:c.[235_240del;243C=;259...

ENST00000553599.5:c.[235_240del;243C=;259...

ENST00000553599.5:c.[235_240del;243C=;259...

ENST00000553599.5:c.[235_240del;243C=;261...

ENST00000553599.5:c.[235_240del;243C=;261...

ENST00000553599.5:c.[235_240del;243C=;261...

ENST00000553599.5:c.[235_240del;243C=;263...

ENST00000553599.5:c.[235_240del;243C=;264...

ENST00000553599.5:c.[235_240del;243C=;265...

ENST00000553599.5:c.[235_240del;243C=;267...

ENST00000553599.5:c.[235_240del;243C=;268...

ENST00000553599.5:c.[235_240del;243C=;270...

ENST00000553599.5:c.[235_240del;243C=;270...

ENST00000553599.5:c.[235_240del;243C=;270...

ENST00000553599.5:c.[235_240del;243C>G;24...

ENST00000553599.5:c.[235_240del;243C>G;24...

ENST00000553599.5:c.[235_240del;243C>G;24...

ENST00000553599.5:c.[235_240del;243C>G;24...

ENST00000553599.5:c.[235_240del;243C>G;24...

ENST00000553599.5:c.[235_240del;243C>G;24...

ENST00000553599.5:c.[235_240del;243C>G;24...

ENST00000553599.5:c.[235_240del;243C>G;25...

ENST00000553599.5:c.[235_240del;243C>G;25...

ENST00000553599.5:c.[235_240del;243C>G;25...

ENST00000553599.5:c.[235_240del;243C>G;25...

ENST00000553599.5:c.[235_240del;243C>G;25...

ENST00000553599.5:c.[235_240del;243C>G;25...

ENST00000553599.5:c.[235_240del;243C>G;25...

ENST00000553599.5:c.[235_240del;243C>G;25...

ENST00000553599.5:c.[235_240del;243C>G;25...

ENST00000553599.5:c.[235_240del;243C>G;25...

ENST00000553599.5:c.[235_240del;243C>G;25...

ENST00000553599.5:c.[235_240del;243C>G;25...

ENST00000553599.5:c.[235_240del;243C>G;25...

ENST00000553599.5:c.[235_240del;243C>G;25...

ENST00000553599.5:c.[235_240del;243C>G;25...

ENST00000553599.5:c.[235_240del;243C>G;25...

ENST00000553599.5:c.[235_240del;243C>G;25...

ENST00000553599.5:c.[235_240del;243C>G;26...

ENST00000553599.5:c.[235_240del;243C>G;26...

ENST00000553599.5:c.[235_240del;243C>G;26...

ENST00000553599.5:c.[235_240del;243C>G;26...

ENST00000553599.5:c.[235_240del;243C>G;26...

ENST00000553599.5:c.[235_240del;243C>G;26...

ENST00000553599.5:c.[235_240del;243C>G;26...

ENST00000553599.5:c.[235_240del;243C>G;26...

ENST00000553599.5:c.[235_240del;243C>G;27...

ENST00000553599.5:c.[235_240del;243C>G;27...

ENST00000553599.5:c.[235_240del;243C>G;27...

ENST00000553599.5:c.[235_240del;243C>T;24...

ENST00000553599.5:c.[235_240del;243C>T;24...

ENST00000553599.5:c.[235_240del;243C>T;24...

ENST00000553599.5:c.[235_240del;243C>T;24...

ENST00000553599.5:c.[235_240del;243C>T;24...

ENST00000553599.5:c.[235_240del;243C>T;24...

ENST00000553599.5:c.[235_240del;243C>T;24...

ENST00000553599.5:c.[235_240del;243C>T;25...

ENST00000553599.5:c.[235_240del;243C>T;25...

ENST00000553599.5:c.[235_240del;243C>T;25...

ENST00000553599.5:c.[235_240del;243C>T;25...

ENST00000553599.5:c.[235_240del;243C>T;25...

ENST00000553599.5:c.[235_240del;243C>T;25...

ENST00000553599.5:c.[235_240del;243C>T;25...

ENST00000553599.5:c.[235_240del;243C>T;25...

ENST00000553599.5:c.[235_240del;243C>T;25...

ENST00000553599.5:c.[235_240del;243C>T;25...

ENST00000553599.5:c.[235_240del;243C>T;25...

ENST00000553599.5:c.[235_240del;243C>T;25...

ENST00000553599.5:c.[235_240del;243C>T;25...

ENST00000553599.5:c.[235_240del;243C>T;25...

ENST00000553599.5:c.[235_240del;243C>T;25...

ENST00000553599.5:c.[235_240del;243C>T;25...

ENST00000553599.5:c.[235_240del;243C>T;25...

ENST00000553599.5:c.[235_240del;243C>T;26...

ENST00000553599.5:c.[235_240del;243C>T;26...

ENST00000553599.5:c.[235_240del;243C>T;26...

ENST00000553599.5:c.[235_240del;243C>T;26...

ENST00000553599.5:c.[235_240del;243C>T;26...

ENST00000553599.5:c.[235_240del;243C>T;26...

ENST00000553599.5:c.[235_240del;243C>T;26...

ENST00000553599.5:c.[235_240del;243C>T;26...

ENST00000553599.5:c.[235_240del;243C>T;27...

ENST00000553599.5:c.[235_240del;243C>T;27...

ENST00000553599.5:c.[235_240del;243C>T;27...

ENST00000553599.5:c.[235_240del;245T=]

ENST00000553599.5:c.[235_240del;246T>C]

ENST00000553599.5:c.[235_240del;247G=]

ENST00000553599.5:c.[235_240del;249C>A]

ENST00000553599.5:c.[235_240del;249C=]

ENST00000553599.5:c.[235_240del;249C>G]

ENST00000553599.5:c.[235_240del;249C>T]

ENST00000553599.5:c.[235_240del;250C=]

ENST00000553599.5:c.[235_240del;251C=]

ENST00000553599.5:c.[235_240del;252T>A]

ENST00000553599.5:c.[235_240del;252T>C]

ENST00000553599.5:c.[235_240del;252T>G]

ENST00000553599.5:c.[235_240del;252T=]

ENST00000553599.5:c.[235_240del;253G=]

ENST00000553599.5:c.[235_240del;255G>A]

ENST00000553599.5:c.[235_240del;255G>C]

ENST00000553599.5:c.[235_240del;255G>T]

ENST00000553599.5:c.[235_240del;257C=]

ENST00000553599.5:c.[235_240del;258T>A]

ENST00000553599.5:c.[235_240del;258T>C]

ENST00000553599.5:c.[235_240del;258T>G]

ENST00000553599.5:c.[235_240del;259C=]

ENST00000553599.5:c.[235_240del;259C>T;26...

ENST00000553599.5:c.[235_240del;259C>T;26...

ENST00000553599.5:c.[235_240del;261C>A]

ENST00000553599.5:c.[235_240del;261C>G]

ENST00000553599.5:c.[235_240del;261C>T]

ENST00000553599.5:c.[235_240del;263G=]

ENST00000553599.5:c.[235_240del;264C>T]

ENST00000553599.5:c.[235_240del;265A=]

ENST00000553599.5:c.[235_240del;267G=]

ENST00000553599.5:c.[235_240del;268G=]

ENST00000553599.5:c.[235_240del;270G>A]

ENST00000553599.5:c.[235_240del;270G>C]

ENST00000553599.5:c.[235_240del;270G>T]