Canonical Allele Identifier: CA224985
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 98006
ClinVar RCV Id: RCV000084283
dbSNP Id: rs63750307

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.73170956_73170961del , CM000676.2:g.73170956_73170961del GRCh38
NC_000014.8:g.73637664_73637669del , CM000676.1:g.73637664_73637669del GRCh37
NC_000014.7:g.72707417_72707422del NCBI36
NG_007386.2:g.39486_39491del

Transcript Alleles

HGVS Amino-acid change
ENST00000324501.10:c.247_252del MANE Select ENSP00000326366.5:p.Ile83_Met84del
ENST00000324501.9:c.247_252del ENSP00000326366.5:p.Ile83_Met84del
ENST00000357710.8:c.235_240del ENSP00000350342.4:p.Ile79_Met80del
ENST00000394157.7:c.247_252del ENSP00000377712.3:p.Ile83_Met84del
ENST00000394164.5:c.235_240del ENSP00000377719.1:p.Ile79_Met80del
ENST00000406768.1:c.-30_-25del ENSP00000385948.1:n.-30_-25del
ENST00000553599.5:c.235_240del ENSP00000452477.1:p.Ile79_Met80del
ENST00000553719.5:c.235_240del ENSP00000451674.1:p.Ile79_Met80del
ENST00000553855.5:n.247_252del ENSP00000452242.1:p.Ile83_Met84del
ENST00000554131.5:c.247_252del ENSP00000451915.1:p.Ile83_Met84del
ENST00000555254.5:c.247_252del ENSP00000450652.1:p.Ile83_Met84del
ENST00000555386.5:n.235_240del ENSP00000450845.1:p.Ile79_Met80del
ENST00000556533.5:c.235_240del ENSP00000452128.1:p.Ile79_Met80del
ENST00000556951.5:c.235_240del ENSP00000450551.1:p.Ile79_Met80del
ENST00000557293.5:c.247_252del ENSP00000451880.1:p.Ile83_Met84del
ENST00000557356.5:c.235_240del ENSP00000451498.1:p.Ile79_Met80del
ENST00000557511.5:n.247_252del ENSP00000451429.1:p.Ile83_Met84del
ENST00000559361.5:c.*191_*196del ENSP00000454156.1:n.*191_*196del
ENST00000560005.6:c.235_240del ENSP00000453466.1:p.Ile79_Met80del
NM_000021.3:c.247_252del NP_000012.1:p.Ile83_Met84del
NM_007318.2:c.235_240del NP_015557.2:p.Ile79_Met80del
XM_005267864.1:c.247_252del XP_005267921.1:p.Ile83_Met84del
XM_005267866.1:c.235_240del XP_005267923.1:p.Ile79_Met80del
XM_011536971.1:c.247_252del XP_011535273.1:p.Ile83_Met84del
XM_011536972.1:c.247_252del XP_011535274.1:p.Ile83_Met84del
XM_011536973.1:c.235_240del XP_011535275.1:p.Ile79_Met80del
XM_011536974.1:c.235_240del XP_011535276.1:p.Ile79_Met80del
XM_005267864.3:c.247_252del XP_005267921.1:p.Ile83_Met84del
XM_005267866.2:c.235_240del XP_005267923.1:p.Ile79_Met80del
XM_011536972.2:c.247_252del XP_011535274.1:p.Ile83_Met84del
XM_011536973.2:c.235_240del XP_011535275.1:p.Ile79_Met80del
XM_011536974.2:c.235_240del XP_011535276.1:p.Ile79_Met80del
NM_000021.4:c.247_252del MANE Select NP_000012.1:p.Ile83_Met84del
NM_007318.3:c.235_240del NP_015557.2:p.Ile79_Met80del