Canonical Allele Identifier: CA2146453829
Gene: PSEN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.73136432C= , CM000676.2:g.73136432C= GRCh38
NC_000014.8:g.73603140C= , CM000676.1:g.73603140C= GRCh37
NC_000014.7:g.72672893C= NCBI36
NG_007386.2:g.4962C=

Transcript Alleles

HGVS Amino-acid change
ENST00000700265.1:c.-120C= ENSP00000514901.1:n.-120C=
ENST00000700266.1:c.-287C= ENSP00000514902.1:n.-287C=
ENST00000700267.1:c.-152C= ENSP00000514903.1:n.-152C=
ENST00000557356.5:c.-152C= ENSP00000451498.1:n.-152C=
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