Canonical Allele Identifier: CA2146453897
Gene: PSEN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.73136516_73136519delinsACAG , CM000676.2:g.73136516_73136519delinsACAG GRCh38
NC_000014.8:g.73603224_73603227delinsACAG , CM000676.1:g.73603224_73603227delinsACAG GRCh37
NC_000014.7:g.72672977_72672980delinsACAG NCBI36
NG_007386.2:g.5046_5049delinsACAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000553447.7:c.-240_-237delinsACAG ENSP00000514869.1:n.-240_-237delinsACAG
ENST00000553599.6:c.-245_-242delinsACAG ENSP00000452477.2:n.-245_-242delinsACAG
ENST00000554131.6:c.-244_-241delinsACAG ENSP00000451915.2:n.-244_-241delinsACAG
ENST00000555386.6:c.-203_-200delinsACAG ENSP00000450845.1:n.-203_-200delinsACAG
ENST00000556011.6:c.-245_-242delinsACAG ENSP00000451662.2:n.-245_-242delinsACAG
ENST00000556951.6:c.-199_-196delinsACAG ENSP00000450551.2:n.-199_-196delinsACAG
ENST00000557293.6:c.-199_-196delinsACAG ENSP00000451880.2:n.-199_-196delinsACAG
ENST00000697912.1:c.-203_-200delinsACAG ENSP00000513477.1:n.-203_-200delinsACAG
ENST00000697913.1:n.52_55delinsACAG
ENST00000697914.1:n.10_13delinsACAG
ENST00000700265.1:c.-104+68_-104+71delinsACAG ENSP00000514901.1:n.-104+68_-104+71delinsACAG
ENST00000700266.1:c.-203_-200delinsACAG ENSP00000514902.1:n.-203_-200delinsACAG
ENST00000700267.1:c.-136+68_-136+71delinsACAG ENSP00000514903.1:n.-136+68_-136+71delinsACAG
ENST00000700268.1:c.-199_-196delinsACAG ENSP00000514904.1:n.-199_-196delinsACAG
ENST00000700269.1:c.-245_-242delinsACAG ENSP00000514905.1:n.-245_-242delinsACAG
ENST00000700270.1:n.66_69delinsACAG
ENST00000700271.1:c.-203_-200delinsACAG ENSP00000514906.1:n.-203_-200delinsACAG
ENST00000700272.1:c.-199_-196delinsACAG ENSP00000514907.1:n.-199_-196delinsACAG
ENST00000700273.1:c.-245_-242delinsACAG ENSP00000514908.1:n.-245_-242delinsACAG
ENST00000700302.1:c.-203_-200delinsACAG ENSP00000514929.1:n.-203_-200delinsACAG
ENST00000700303.1:c.-203_-200delinsACAG ENSP00000514930.1:n.-203_-200delinsACAG
ENST00000700304.1:c.-203_-200delinsACAG ENSP00000514931.1:n.-203_-200delinsACAG
ENST00000700305.1:c.-203_-200delinsACAG ENSP00000514932.1:n.-203_-200delinsACAG
ENST00000700306.1:c.-245_-242delinsACAG ENSP00000514933.1:n.-245_-242delinsACAG
ENST00000700307.1:c.-203_-200delinsACAG ENSP00000514934.1:n.-203_-200delinsACAG
ENST00000700308.1:c.-203_-200delinsACAG ENSP00000514935.1:n.-203_-200delinsACAG
ENST00000700309.1:c.-203_-200delinsACAG ENSP00000514936.1:n.-203_-200delinsACAG
ENST00000700310.1:c.-203_-200delinsACAG ENSP00000514937.1:n.-203_-200delinsACAG
ENST00000700311.1:c.-244_-241delinsACAG ENSP00000514938.1:n.-244_-241delinsACAG
ENST00000700312.1:c.-352_-349delinsACAG ENSP00000514939.1:n.-352_-349delinsACAG
ENST00000700313.1:c.-240_-237delinsACAG ENSP00000514940.1:n.-240_-237delinsACAG
ENST00000700314.1:c.-203_-200delinsACAG ENSP00000514941.1:n.-203_-200delinsACAG
ENST00000700315.1:c.-203_-200delinsACAG ENSP00000514942.1:n.-203_-200delinsACAG
ENST00000700316.1:c.-203_-200delinsACAG ENSP00000514943.1:n.-203_-200delinsACAG
ENST00000700317.1:c.-171_-168delinsACAG ENSP00000514944.1:n.-171_-168delinsACAG
ENST00000700318.1:c.-203_-200delinsACAG ENSP00000514945.1:n.-203_-200delinsACAG
ENST00000700319.1:c.-203_-200delinsACAG ENSP00000514946.1:n.-203_-200delinsACAG
ENST00000700320.1:c.-203_-200delinsACAG ENSP00000514947.1:n.-203_-200delinsACAG
ENST00000700321.1:c.-205_-202delinsACAG ENSP00000514948.1:n.-205_-202delinsACAG
ENST00000700322.1:c.-171_-168delinsACAG ENSP00000514949.1:n.-171_-168delinsACAG
ENST00000700323.1:c.-249_-246delinsACAG ENSP00000514950.1:n.-249_-246delinsACAG
ENST00000700374.1:n.56_59delinsACAG
ENST00000700388.1:n.45_48delinsACAG
ENST00000700389.1:c.-368_-365delinsACAG ENSP00000514970.1:n.-368_-365delinsACAG
ENST00000324501.10:c.-203_-200delinsACAG MANE Select ENSP00000326366.5:n.-203_-200delinsACAG
ENST00000324501.9:c.-203_-200delinsACAG ENSP00000326366.5:n.-203_-200delinsACAG
ENST00000357710.8:c.-203_-200delinsACAG ENSP00000350342.4:n.-203_-200delinsACAG
ENST00000394157.7:c.-203_-200delinsACAG ENSP00000377712.3:n.-203_-200delinsACAG
ENST00000553447.6:n.40_43delinsACAG
ENST00000553599.5:c.-245_-242delinsACAG ENSP00000452477.1:n.-245_-242delinsACAG
ENST00000553719.5:c.-199_-196delinsACAG ENSP00000451674.1:n.-199_-196delinsACAG
ENST00000554131.5:c.-244_-241delinsACAG ENSP00000451915.1:n.-244_-241delinsACAG
ENST00000555254.5:c.-227_-224delinsACAG ENSP00000450652.1:n.-227_-224delinsACAG
ENST00000556011.5:c.-245_-242delinsACAG ENSP00000451662.1:n.-245_-242delinsACAG
ENST00000556533.5:c.-192_-189delinsACAG ENSP00000452128.1:n.-192_-189delinsACAG
ENST00000556864.5:c.-302_-299delinsACAG ENSP00000451588.1:n.-302_-299delinsACAG
ENST00000556951.5:c.-199_-196delinsACAG ENSP00000450551.1:n.-199_-196delinsACAG
ENST00000557293.5:c.-199_-196delinsACAG ENSP00000451880.1:n.-199_-196delinsACAG
ENST00000557356.5:c.-136+68_-136+71delinsACAG ENSP00000451498.1:n.-136+68_-136+71delinsACAG
ENST00000560005.6:c.-305_-302delinsACAG ENSP00000453466.1:n.-305_-302delinsACAG
NM_000021.3:c.-203_-200delinsACAG NP_000012.1:n.-203_-200delinsACAG
NM_007318.2:c.-203_-200delinsACAG NP_015557.2:n.-203_-200delinsACAG
XM_005267864.1:c.-199_-196delinsACAG XP_005267921.1:n.-199_-196delinsACAG
XM_005267866.1:c.-199_-196delinsACAG XP_005267923.1:n.-199_-196delinsACAG
XM_005267864.3:c.-199_-196delinsACAG XP_005267921.1:n.-199_-196delinsACAG
XM_005267866.2:c.-199_-196delinsACAG XP_005267923.1:n.-199_-196delinsACAG
NM_000021.4:c.-203_-200delinsACAG MANE Select NP_000012.1:n.-203_-200delinsACAG
NM_007318.3:c.-203_-200delinsACAG NP_015557.2:n.-203_-200delinsACAG