Canonical Allele Identifier: CA2146453850

Gene: PSEN1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73136460_73136461delinsCG , CM000676.2:g.73136460_73136461delinsCG	GRCh38
NC_000014.8:g.73603168_73603169delinsCG , CM000676.1:g.73603168_73603169delinsCG	GRCh37
NC_000014.7:g.72672921_72672922delinsCG	NCBI36
NG_007386.2:g.4990_4991delinsCG

Transcript Alleles

HGVS	Amino-acid change
ENST00000553599.6:c.-301_-300delinsCG	ENSP00000452477.2:n.-301_-300delinsCG
ENST00000555386.6:c.-259_-258delinsCG	ENSP00000450845.1:n.-259_-258delinsCG
ENST00000556011.6:c.-301_-300delinsCG	ENSP00000451662.2:n.-301_-300delinsCG
ENST00000556951.6:c.-255_-254delinsCG	ENSP00000450551.2:n.-255_-254delinsCG
ENST00000557293.6:c.-255_-254delinsCG	ENSP00000451880.2:n.-255_-254delinsCG
ENST00000697912.1:c.-259_-258delinsCG	ENSP00000513477.1:n.-259_-258delinsCG
ENST00000700265.1:c.-104+12_-104+13delinsCG	ENSP00000514901.1:n.-104+12_-104+13delins...
ENST00000700266.1:c.-259_-258delinsCG	ENSP00000514902.1:n.-259_-258delinsCG
ENST00000700267.1:c.-136+12_-136+13delinsCG	ENSP00000514903.1:n.-136+12_-136+13delins...
ENST00000700268.1:c.-255_-254delinsCG	ENSP00000514904.1:n.-255_-254delinsCG
ENST00000700269.1:c.-301_-300delinsCG	ENSP00000514905.1:n.-301_-300delinsCG
ENST00000700270.1:n.10_11delinsCG
ENST00000700271.1:c.-259_-258delinsCG	ENSP00000514906.1:n.-259_-258delinsCG
ENST00000700272.1:c.-255_-254delinsCG	ENSP00000514907.1:n.-255_-254delinsCG
ENST00000700273.1:c.-301_-300delinsCG	ENSP00000514908.1:n.-301_-300delinsCG
ENST00000700302.1:c.-259_-258delinsCG	ENSP00000514929.1:n.-259_-258delinsCG
ENST00000700303.1:c.-259_-258delinsCG	ENSP00000514930.1:n.-259_-258delinsCG
ENST00000324501.9:c.-259_-258delinsCG	ENSP00000326366.5:n.-259_-258delinsCG
ENST00000357710.8:c.-259_-258delinsCG	ENSP00000350342.4:n.-259_-258delinsCG
ENST00000394157.7:c.-259_-258delinsCG	ENSP00000377712.3:n.-259_-258delinsCG
ENST00000553599.5:c.-301_-300delinsCG	ENSP00000452477.1:n.-301_-300delinsCG
ENST00000553719.5:c.-255_-254delinsCG	ENSP00000451674.1:n.-255_-254delinsCG
ENST00000555254.5:c.-283_-282delinsCG	ENSP00000450652.1:n.-283_-282delinsCG
ENST00000556011.5:c.-301_-300delinsCG	ENSP00000451662.1:n.-301_-300delinsCG
ENST00000556533.5:c.-248_-247delinsCG	ENSP00000452128.1:n.-248_-247delinsCG
ENST00000556864.5:c.-358_-357delinsCG	ENSP00000451588.1:n.-358_-357delinsCG
ENST00000556951.5:c.-255_-254delinsCG	ENSP00000450551.1:n.-255_-254delinsCG
ENST00000557293.5:c.-255_-254delinsCG	ENSP00000451880.1:n.-255_-254delinsCG
ENST00000557356.5:c.-136+12_-136+13delinsCG	ENSP00000451498.1:n.-136+12_-136+13delins...
ENST00000560005.6:c.-361_-360delinsCG	ENSP00000453466.1:n.-361_-360delinsCG
NM_000021.3:c.-259_-258delinsCG	NP_000012.1:n.-259_-258delinsCG
NM_007318.2:c.-259_-258delinsCG	NP_015557.2:n.-259_-258delinsCG
XM_005267864.1:c.-255_-254delinsCG	XP_005267921.1:n.-255_-254delinsCG
XM_005267866.1:c.-255_-254delinsCG	XP_005267923.1:n.-255_-254delinsCG
XM_005267864.3:c.-255_-254delinsCG	XP_005267921.1:n.-255_-254delinsCG
XM_005267866.2:c.-255_-254delinsCG	XP_005267923.1:n.-255_-254delinsCG