Canonical Allele Identifier: CA2146453832

Gene: PSEN1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73136438_73136441delinsTGAC , CM000676.2:g.73136438_73136441delinsTGAC	GRCh38
NC_000014.8:g.73603146_73603149delinsTGAC , CM000676.1:g.73603146_73603149delinsTGAC	GRCh37
NC_000014.7:g.72672899_72672902delinsTGAC	NCBI36
NG_007386.2:g.4968_4971delinsTGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556951.6:c.-277_-274delinsTGAC	ENSP00000450551.2:n.-277_-274delinsTGAC
ENST00000557293.6:c.-277_-274delinsTGAC	ENSP00000451880.2:n.-277_-274delinsTGAC
ENST00000700265.1:c.-114_-111delinsTGAC	ENSP00000514901.1:n.-114_-111delinsTGAC
ENST00000700266.1:c.-281_-278delinsTGAC	ENSP00000514902.1:n.-281_-278delinsTGAC
ENST00000700267.1:c.-146_-143delinsTGAC	ENSP00000514903.1:n.-146_-143delinsTGAC
ENST00000556533.5:c.-270_-267delinsTGAC	ENSP00000452128.1:n.-270_-267delinsTGAC
ENST00000556864.5:c.-380_-377delinsTGAC	ENSP00000451588.1:n.-380_-377delinsTGAC
ENST00000556951.5:c.-277_-274delinsTGAC	ENSP00000450551.1:n.-277_-274delinsTGAC
ENST00000557293.5:c.-277_-274delinsTGAC	ENSP00000451880.1:n.-277_-274delinsTGAC
ENST00000557356.5:c.-146_-143delinsTGAC	ENSP00000451498.1:n.-146_-143delinsTGAC
NM_000021.3:c.-281_-278delinsTGAC	NP_000012.1:n.-281_-278delinsTGAC
NM_007318.2:c.-281_-278delinsTGAC	NP_015557.2:n.-281_-278delinsTGAC
XM_005267864.1:c.-277_-274delinsTGAC	XP_005267921.1:n.-277_-274delinsTGAC
XM_005267866.1:c.-277_-274delinsTGAC	XP_005267923.1:n.-277_-274delinsTGAC
XM_005267866.2:c.-277_-274delinsTGAC	XP_005267923.1:n.-277_-274delinsTGAC