Canonical Allele Identifier: CA2625553032
Gene: PSEN1 HGNC NCBI

Linked Data

gnomAD v4: 14-73136417-CAACG-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.73136419_73136422del , CM000676.2:g.73136419_73136422del GRCh38
NC_000014.8:g.73603127_73603130del , CM000676.1:g.73603127_73603130del GRCh37
NC_000014.7:g.72672880_72672883del NCBI36
NG_007386.2:g.4949_4952del

Transcript Alleles

HGVS Amino-acid Change
ENST00000557356.5:c.-165_-162del ENSP00000451498.1:n.-165_-162del
Search 100 bp 5'
Search 100 bp 3'