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
ENSP00000514934.1:p.Leu174del
ENST00000700307.1:c.517_519del

ENST00000700307.1:c.[517_519del;521T=]

ENST00000700307.1:c.[517_519del;521T=;524...

ENST00000700307.1:c.[517_519del;521T=;525...

ENST00000700307.1:c.[517_519del;521T=;525...

ENST00000700307.1:c.[517_519del;522G>A]

ENST00000700307.1:c.[517_519del;522G>A;52...

ENST00000700307.1:c.[517_519del;522G>A;52...

ENST00000700307.1:c.[517_519del;522G>A;52...

ENST00000700307.1:c.[517_519del;522G>C]

ENST00000700307.1:c.[517_519del;522G>C;52...

ENST00000700307.1:c.[517_519del;522G>C;52...

ENST00000700307.1:c.[517_519del;522G>C;52...

ENST00000700307.1:c.[517_519del;522G=]

ENST00000700307.1:c.[517_519del;522G=;524...

ENST00000700307.1:c.[517_519del;522G=;525...

ENST00000700307.1:c.[517_519del;522G=;525...

ENST00000700307.1:c.[517_519del;522G>T]

ENST00000700307.1:c.[517_519del;522G>T;52...

ENST00000700307.1:c.[517_519del;522G>T;52...

ENST00000700307.1:c.[517_519del;522G>T;52...

ENST00000700307.1:c.[517_519del;524T=]

ENST00000700307.1:c.[517_519del;525C=]

ENST00000700307.1:c.[517_519del;525C>T]

ENST00000700307.1:c.520_522del

ENST00000700307.1:c.[520_522del;524T=]

ENST00000700307.1:c.[520_522del;525C=]

ENST00000700307.1:c.[520_522del;525C>T]