Canonical Allele Identifier: CA2146483875
Gene: PSEN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.73186551_73186552delinsCG , CM000676.2:g.73186551_73186552delinsCG GRCh38
NC_000014.8:g.73653259_73653260delinsCG , CM000676.1:g.73653259_73653260delinsCG GRCh37
NC_000014.7:g.72723012_72723013delinsCG NCBI36
NG_007386.2:g.55081_55082delinsCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000553599.6:c.469-302_469-301delinsCG ENSP00000452477.2:n.469-302_469-301delinsCG
ENST00000554131.6:c.481-302_481-301delinsCG ENSP00000451915.2:n.481-302_481-301delinsCG
ENST00000555386.6:c.469-302_469-301delinsCG ENSP00000450845.1:n.469-302_469-301delinsCG
ENST00000556066.2:n.907-302_907-301delinsCG
ENST00000556951.6:c.469-302_469-301delinsCG ENSP00000450551.2:n.469-302_469-301delinsCG
ENST00000557293.6:c.481-302_481-301delinsCG ENSP00000451880.2:n.481-302_481-301delinsCG
ENST00000559361.6:c.*425-302_*425-301delinsCG ENSP00000454156.1:n.*425-302_*425-301delinsCG
ENST00000697912.1:c.469-302_469-301delinsCG ENSP00000513477.1:n.469-302_469-301delinsCG
ENST00000697913.1:n.735-302_735-301delinsCG
ENST00000700265.1:c.469-302_469-301delinsCG ENSP00000514901.1:n.469-302_469-301delinsCG
ENST00000700266.1:c.*693-302_*693-301delinsCG ENSP00000514902.1:n.*693-302_*693-301delinsCG
ENST00000700267.1:c.481-302_481-301delinsCG ENSP00000514903.1:n.481-302_481-301delinsCG
ENST00000700268.1:c.481-302_481-301delinsCG ENSP00000514904.1:n.481-302_481-301delinsCG
ENST00000700269.1:c.481-302_481-301delinsCG ENSP00000514905.1:n.481-302_481-301delinsCG
ENST00000700270.1:n.737-302_737-301delinsCG
ENST00000700271.1:c.469-302_469-301delinsCG ENSP00000514906.1:n.469-302_469-301delinsCG
ENST00000700272.1:c.*425-302_*425-301delinsCG ENSP00000514907.1:n.*425-302_*425-301delinsCG
ENST00000700273.1:c.469-302_469-301delinsCG ENSP00000514908.1:n.469-302_469-301delinsCG
ENST00000700302.1:c.481-302_481-301delinsCG ENSP00000514929.1:n.481-302_481-301delinsCG
ENST00000700303.1:c.*143-302_*143-301delinsCG ENSP00000514930.1:n.*143-302_*143-301delinsCG
ENST00000700304.1:c.*425-302_*425-301delinsCG ENSP00000514931.1:n.*425-302_*425-301delinsCG
ENST00000700305.1:c.*39-302_*39-301delinsCG ENSP00000514932.1:n.*39-302_*39-301delinsCG
ENST00000700306.1:c.481-302_481-301delinsCG ENSP00000514933.1:n.481-302_481-301delinsCG
ENST00000700307.1:c.481-302_481-301delinsCG ENSP00000514934.1:n.481-302_481-301delinsCG
ENST00000700308.1:c.*425-302_*425-301delinsCG ENSP00000514935.1:n.*425-302_*425-301delinsCG
ENST00000700309.1:c.*570-302_*570-301delinsCG ENSP00000514936.1:n.*570-302_*570-301delinsCG
ENST00000700310.1:c.469-302_469-301delinsCG ENSP00000514937.1:n.469-302_469-301delinsCG
ENST00000700311.1:c.481-302_481-301delinsCG ENSP00000514938.1:n.481-302_481-301delinsCG
ENST00000700312.1:c.232-302_232-301delinsCG ENSP00000514939.1:n.232-302_232-301delinsCG
ENST00000700313.1:c.469-302_469-301delinsCG ENSP00000514940.1:n.469-302_469-301delinsCG
ENST00000700314.1:c.*420-302_*420-301delinsCG ENSP00000514941.1:n.*420-302_*420-301delinsCG
ENST00000700315.1:c.*39-302_*39-301delinsCG ENSP00000514942.1:n.*39-302_*39-301delinsCG
ENST00000700316.1:c.*261-302_*261-301delinsCG ENSP00000514943.1:n.*261-302_*261-301delinsCG
ENST00000700317.1:c.481-302_481-301delinsCG ENSP00000514944.1:n.481-302_481-301delinsCG
ENST00000700318.1:c.*143-302_*143-301delinsCG ENSP00000514945.1:n.*143-302_*143-301delinsCG
ENST00000700319.1:c.481-6093_481-6092delinsCG ENSP00000514946.1:n.481-6093_481-6092delinsCG
ENST00000700320.1:c.481-302_481-301delinsCG ENSP00000514947.1:n.481-302_481-301delinsCG
ENST00000700321.1:c.481-302_481-301delinsCG ENSP00000514948.1:n.481-302_481-301delinsCG
ENST00000700322.1:c.469-302_469-301delinsCG ENSP00000514949.1:n.469-302_469-301delinsCG
ENST00000700323.1:c.481-302_481-301delinsCG ENSP00000514950.1:n.481-302_481-301delinsCG
ENST00000700324.1:c.469-302_469-301delinsCG ENSP00000514951.1:n.469-302_469-301delinsCG
ENST00000700375.1:c.481-302_481-301delinsCG ENSP00000514966.1:n.481-302_481-301delinsCG
ENST00000700376.1:n.1065-302_1065-301delinsCG
ENST00000700377.1:c.481-302_481-301delinsCG ENSP00000514967.1:n.481-302_481-301delinsCG
ENST00000700378.1:c.481-302_481-301delinsCG ENSP00000514968.1:n.481-302_481-301delinsCG
ENST00000700379.1:n.879-302_879-301delinsCG
ENST00000700388.1:n.728-302_728-301delinsCG
ENST00000700389.1:c.469-302_469-301delinsCG ENSP00000514970.1:n.469-302_469-301delinsCG
ENST00000700390.1:n.2192-302_2192-301delinsCG
ENST00000700404.1:n.1364-302_1364-301delinsCG
ENST00000700432.1:n.838-302_838-301delinsCG
ENST00000700433.1:n.616-302_616-301delinsCG
ENST00000700434.1:n.734-302_734-301delinsCG
ENST00000700435.1:n.616-302_616-301delinsCG
ENST00000700436.1:c.481-302_481-301delinsCG ENSP00000514987.1:n.481-302_481-301delinsCG
ENST00000700437.1:c.232-302_232-301delinsCG ENSP00000514988.1:n.232-302_232-301delinsCG
ENST00000700467.1:n.738-302_738-301delinsCG
ENST00000700468.1:c.469-302_469-301delinsCG ENSP00000515001.1:n.469-302_469-301delinsCG
ENST00000700469.1:c.469-302_469-301delinsCG ENSP00000515002.1:n.469-302_469-301delinsCG
ENST00000324501.10:c.481-302_481-301delinsCG MANE Select ENSP00000326366.5:n.481-302_481-301delinsCG
ENST00000324501.9:c.481-302_481-301delinsCG ENSP00000326366.5:n.481-302_481-301delinsCG
ENST00000357710.8:c.469-302_469-301delinsCG ENSP00000350342.4:n.469-302_469-301delinsCG
ENST00000394164.5:c.469-302_469-301delinsCG ENSP00000377719.1:n.469-302_469-301delinsCG
ENST00000406768.1:c.205-302_205-301delinsCG ENSP00000385948.1:n.205-302_205-301delinsCG
ENST00000553855.5:c.481-302_481-301delinsCG ENSP00000452242.1:n.481-302_481-301delinsCG
ENST00000555386.5:c.469-302_469-301delinsCG ENSP00000450845.1:n.469-302_469-301delinsCG
ENST00000557511.5:c.481-302_481-301delinsCG ENSP00000451429.1:n.481-302_481-301delinsCG
NM_000021.3:c.481-302_481-301delinsCG NP_000012.1:n.481-302_481-301delinsCG
NM_007318.2:c.469-302_469-301delinsCG NP_015557.2:n.469-302_469-301delinsCG
XM_005267864.1:c.481-302_481-301delinsCG XP_005267921.1:n.481-302_481-301delinsCG
XM_005267866.1:c.469-302_469-301delinsCG XP_005267923.1:n.469-302_469-301delinsCG
XM_011536971.1:c.481-302_481-301delinsCG XP_011535273.1:n.481-302_481-301delinsCG
XM_011536972.1:c.481-302_481-301delinsCG XP_011535274.1:n.481-302_481-301delinsCG
XM_011536973.1:c.469-302_469-301delinsCG XP_011535275.1:n.469-302_469-301delinsCG
XM_011536974.1:c.469-302_469-301delinsCG XP_011535276.1:n.469-302_469-301delinsCG
XM_005267864.3:c.481-302_481-301delinsCG XP_005267921.1:n.481-302_481-301delinsCG
XM_005267866.2:c.469-302_469-301delinsCG XP_005267923.1:n.469-302_469-301delinsCG
XM_011536972.2:c.481-302_481-301delinsCG XP_011535274.1:n.481-302_481-301delinsCG
XM_011536973.2:c.469-302_469-301delinsCG XP_011535275.1:n.469-302_469-301delinsCG
XM_011536974.2:c.469-302_469-301delinsCG XP_011535276.1:n.469-302_469-301delinsCG
NM_000021.4:c.481-302_481-301delinsCG MANE Select NP_000012.1:n.481-302_481-301delinsCG
NM_007318.3:c.469-302_469-301delinsCG NP_015557.2:n.469-302_469-301delinsCG
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