Canonical Allele Identifier: CA2146453834

Gene: PSEN1

Linked Data

• dbSNP Id: rs1896742008

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73136442_73136444del , CM000676.2:g.73136442_73136444del	GRCh38
NC_000014.8:g.73603150_73603152del , CM000676.1:g.73603150_73603152del	GRCh37
NC_000014.7:g.72672903_72672905del	NCBI36
NG_007386.2:g.4972_4974del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556951.6:c.-273_-271del	ENSP00000450551.2:n.-273_-271del
ENST00000557293.6:c.-273_-271del	ENSP00000451880.2:n.-273_-271del
ENST00000700265.1:c.-110_-108del	ENSP00000514901.1:n.-110_-108del
ENST00000700266.1:c.-277_-275del	ENSP00000514902.1:n.-277_-275del
ENST00000700267.1:c.-142_-140del	ENSP00000514903.1:n.-142_-140del
ENST00000700268.1:c.-273_-271del	ENSP00000514904.1:n.-273_-271del
ENST00000556533.5:c.-266_-264del	ENSP00000452128.1:n.-266_-264del
ENST00000556864.5:c.-376_-374del	ENSP00000451588.1:n.-376_-374del
ENST00000556951.5:c.-273_-271del	ENSP00000450551.1:n.-273_-271del
ENST00000557293.5:c.-273_-271del	ENSP00000451880.1:n.-273_-271del
ENST00000557356.5:c.-142_-140del	ENSP00000451498.1:n.-142_-140del
NM_000021.3:c.-277_-275del	NP_000012.1:n.-277_-275del
NM_007318.2:c.-277_-275del	NP_015557.2:n.-277_-275del
XM_005267864.1:c.-273_-271del	XP_005267921.1:n.-273_-271del
XM_005267866.1:c.-273_-271del	XP_005267923.1:n.-273_-271del
XM_005267866.2:c.-273_-271del	XP_005267923.1:n.-273_-271del