Canonical Allele Identifier: CA2146490031
Gene: PSEN1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.73206191_73206192delinsAT , CM000676.2:g.73206191_73206192delinsAT GRCh38
NC_000014.8:g.73672899_73672900delinsAT , CM000676.1:g.73672899_73672900delinsAT GRCh37
NC_000014.7:g.72742652_72742653delinsAT NCBI36
NG_007386.2:g.74721_74722delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000553599.6:c.857-195_857-194delinsAT ENSP00000452477.2:n.857-195_857-194delinsAT
ENST00000554131.6:c.869-195_869-194delinsAT ENSP00000451915.2:n.869-195_869-194delinsAT
ENST00000554995.2:n.1619-195_1619-194delinsAT
ENST00000555386.6:c.857-195_857-194delinsAT ENSP00000450845.1:n.857-195_857-194delinsAT
ENST00000556066.2:n.1295-195_1295-194delinsAT
ENST00000556951.6:c.857-195_857-194delinsAT ENSP00000450551.2:n.857-195_857-194delinsAT
ENST00000557293.6:c.749-195_749-194delinsAT ENSP00000451880.2:n.749-195_749-194delinsAT
ENST00000559361.6:c.*813-195_*813-194delinsAT ENSP00000454156.1:n.*813-195_*813-194delinsAT
ENST00000697912.1:c.857-195_857-194delinsAT ENSP00000513477.1:n.857-195_857-194delinsAT
ENST00000697913.1:n.1123-195_1123-194delinsAT
ENST00000700265.1:c.857-195_857-194delinsAT ENSP00000514901.1:n.857-195_857-194delinsAT
ENST00000700266.1:c.*1081-195_*1081-194delinsAT ENSP00000514902.1:n.*1081-195_*1081-194delinsAT
ENST00000700267.1:c.869-195_869-194delinsAT ENSP00000514903.1:n.869-195_869-194delinsAT
ENST00000700268.1:c.869-195_869-194delinsAT ENSP00000514904.1:n.869-195_869-194delinsAT
ENST00000700269.1:c.869-195_869-194delinsAT ENSP00000514905.1:n.869-195_869-194delinsAT
ENST00000700270.1:n.1125-195_1125-194delinsAT
ENST00000700271.1:c.857-195_857-194delinsAT ENSP00000514906.1:n.857-195_857-194delinsAT
ENST00000700272.1:c.*813-195_*813-194delinsAT ENSP00000514907.1:n.*813-195_*813-194delinsAT
ENST00000700273.1:c.857-195_857-194delinsAT ENSP00000514908.1:n.857-195_857-194delinsAT
ENST00000700302.1:c.869-195_869-194delinsAT ENSP00000514929.1:n.869-195_869-194delinsAT
ENST00000700303.1:c.*531-195_*531-194delinsAT ENSP00000514930.1:n.*531-195_*531-194delinsAT
ENST00000700304.1:c.*813-195_*813-194delinsAT ENSP00000514931.1:n.*813-195_*813-194delinsAT
ENST00000700305.1:c.*427-195_*427-194delinsAT ENSP00000514932.1:n.*427-195_*427-194delinsAT
ENST00000700306.1:c.869-195_869-194delinsAT ENSP00000514933.1:n.869-195_869-194delinsAT
ENST00000700307.1:c.770-195_770-194delinsAT ENSP00000514934.1:n.770-195_770-194delinsAT
ENST00000700308.1:c.*813-195_*813-194delinsAT ENSP00000514935.1:n.*813-195_*813-194delinsAT
ENST00000700309.1:c.*958-195_*958-194delinsAT ENSP00000514936.1:n.*958-195_*958-194delinsAT
ENST00000700310.1:c.758-195_758-194delinsAT ENSP00000514937.1:n.758-195_758-194delinsAT
ENST00000700311.1:c.869-195_869-194delinsAT ENSP00000514938.1:n.869-195_869-194delinsAT
ENST00000700312.1:c.620-195_620-194delinsAT ENSP00000514939.1:n.620-195_620-194delinsAT
ENST00000700313.1:c.857-195_857-194delinsAT ENSP00000514940.1:n.857-195_857-194delinsAT
ENST00000700314.1:c.*808-195_*808-194delinsAT ENSP00000514941.1:n.*808-195_*808-194delinsAT
ENST00000700315.1:c.*427-195_*427-194delinsAT ENSP00000514942.1:n.*427-195_*427-194delinsAT
ENST00000700316.1:c.*649-195_*649-194delinsAT ENSP00000514943.1:n.*649-195_*649-194delinsAT
ENST00000700317.1:c.869-195_869-194delinsAT ENSP00000514944.1:n.869-195_869-194delinsAT
ENST00000700318.1:c.*531-195_*531-194delinsAT ENSP00000514945.1:n.*531-195_*531-194delinsAT
ENST00000700319.1:c.*309-195_*309-194delinsAT ENSP00000514946.1:n.*309-195_*309-194delinsAT
ENST00000700320.1:c.896-195_896-194delinsAT ENSP00000514947.1:n.896-195_896-194delinsAT
ENST00000700321.1:c.869-195_869-194delinsAT ENSP00000514948.1:n.869-195_869-194delinsAT
ENST00000700322.1:c.857-195_857-194delinsAT ENSP00000514949.1:n.857-195_857-194delinsAT
ENST00000700323.1:c.869-195_869-194delinsAT ENSP00000514950.1:n.869-195_869-194delinsAT
ENST00000700324.1:c.857-195_857-194delinsAT ENSP00000514951.1:n.857-195_857-194delinsAT
ENST00000700375.1:c.869-195_869-194delinsAT ENSP00000514966.1:n.869-195_869-194delinsAT
ENST00000700377.1:c.*337-195_*337-194delinsAT ENSP00000514967.1:n.*337-195_*337-194delinsAT
ENST00000700378.1:c.869-195_869-194delinsAT ENSP00000514968.1:n.869-195_869-194delinsAT
ENST00000700379.1:n.1267-195_1267-194delinsAT
ENST00000700389.1:c.857-195_857-194delinsAT ENSP00000514970.1:n.857-195_857-194delinsAT
ENST00000700390.1:n.2580-195_2580-194delinsAT
ENST00000700391.1:n.79+26_79+27delinsAT
ENST00000700404.1:n.1868-195_1868-194delinsAT
ENST00000700433.1:n.1120-195_1120-194delinsAT
ENST00000700434.1:n.1122-195_1122-194delinsAT
ENST00000700435.1:n.1004-195_1004-194delinsAT
ENST00000700436.1:c.869-195_869-194delinsAT ENSP00000514987.1:n.869-195_869-194delinsAT
ENST00000700437.1:c.620-195_620-194delinsAT ENSP00000514988.1:n.620-195_620-194delinsAT
ENST00000700467.1:n.1126-195_1126-194delinsAT
ENST00000700468.1:c.758-195_758-194delinsAT ENSP00000515001.1:n.758-195_758-194delinsAT
ENST00000700469.1:c.857-195_857-194delinsAT ENSP00000515002.1:n.857-195_857-194delinsAT
ENST00000324501.10:c.869-195_869-194delinsAT MANE Select ENSP00000326366.5:n.869-195_869-194delinsAT
ENST00000324501.9:c.869-195_869-194delinsAT ENSP00000326366.5:n.869-195_869-194delinsAT
ENST00000357710.8:c.857-195_857-194delinsAT ENSP00000350342.4:n.857-195_857-194delinsAT
ENST00000394164.5:c.857-195_857-194delinsAT ENSP00000377719.1:n.857-195_857-194delinsAT
ENST00000406768.1:c.593-195_593-194delinsAT ENSP00000385948.1:n.593-195_593-194delinsAT
ENST00000553855.5:c.869-195_869-194delinsAT ENSP00000452242.1:n.869-195_869-194delinsAT
ENST00000554995.1:n.421-195_421-194delinsAT
ENST00000555386.5:c.857-195_857-194delinsAT ENSP00000450845.1:n.857-195_857-194delinsAT
ENST00000555867.1:n.39_40delinsAT
ENST00000557511.5:c.869-195_869-194delinsAT ENSP00000451429.1:n.869-195_869-194delinsAT
NM_000021.3:c.869-195_869-194delinsAT NP_000012.1:n.869-195_869-194delinsAT
NM_007318.2:c.857-195_857-194delinsAT NP_015557.2:n.857-195_857-194delinsAT
XM_005267864.1:c.869-195_869-194delinsAT XP_005267921.1:n.869-195_869-194delinsAT
XM_005267866.1:c.857-195_857-194delinsAT XP_005267923.1:n.857-195_857-194delinsAT
XM_011536971.1:c.869-195_869-194delinsAT XP_011535273.1:n.869-195_869-194delinsAT
XM_011536972.1:c.869-195_869-194delinsAT XP_011535274.1:n.869-195_869-194delinsAT
XM_011536973.1:c.857-195_857-194delinsAT XP_011535275.1:n.857-195_857-194delinsAT
XM_011536974.1:c.857-195_857-194delinsAT XP_011535276.1:n.857-195_857-194delinsAT
XM_005267864.3:c.869-195_869-194delinsAT XP_005267921.1:n.869-195_869-194delinsAT
XM_005267866.2:c.857-195_857-194delinsAT XP_005267923.1:n.857-195_857-194delinsAT
XM_011536972.2:c.869-195_869-194delinsAT XP_011535274.1:n.869-195_869-194delinsAT
XM_011536973.2:c.857-195_857-194delinsAT XP_011535275.1:n.857-195_857-194delinsAT
XM_011536974.2:c.857-195_857-194delinsAT XP_011535276.1:n.857-195_857-194delinsAT
NM_000021.4:c.869-195_869-194delinsAT MANE Select NP_000012.1:n.869-195_869-194delinsAT
NM_007318.3:c.857-195_857-194delinsAT NP_015557.2:n.857-195_857-194delinsAT
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