Canonical Allele Identifier: CA2146470583
Gene: PSEN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.73186783_73186787delinsGAAAA , CM000676.2:g.73186783_73186787delinsGAAAA GRCh38
NC_000014.8:g.73653491_73653495delinsGAAAA , CM000676.1:g.73653491_73653495delinsGAAAA GRCh37
NC_000014.7:g.72723244_72723248delinsGAAAA NCBI36
NG_007386.2:g.55313_55317delinsGAAAA

Transcript Alleles

HGVS Amino-acid change
ENST00000553599.6:c.469-70_469-66delinsGAAAA ENSP00000452477.2:n.469-70_469-66delinsGA...
ENST00000554131.6:c.481-70_481-66delinsGAAAA ENSP00000451915.2:n.481-70_481-66delinsGA...
ENST00000555386.6:c.469-70_469-66delinsGAAAA ENSP00000450845.1:n.469-70_469-66delinsGA...
ENST00000556066.2:n.907-70_907-66delinsGAAAA
ENST00000556951.6:c.469-70_469-66delinsGAAAA ENSP00000450551.2:n.469-70_469-66delinsGA...
ENST00000557293.6:c.481-70_481-66delinsGAAAA ENSP00000451880.2:n.481-70_481-66delinsGA...
ENST00000559361.6:c.*425-70_*425-66delinsGAAAA ENSP00000454156.1:n.*425-70_*425-66delins...
ENST00000697912.1:c.469-70_469-66delinsGAAAA ENSP00000513477.1:n.469-70_469-66delinsGA...
ENST00000697913.1:n.735-70_735-66delinsGAAAA
ENST00000700265.1:c.469-70_469-66delinsGAAAA ENSP00000514901.1:n.469-70_469-66delinsGA...
ENST00000700266.1:c.*693-70_*693-66delinsGAAAA ENSP00000514902.1:n.*693-70_*693-66delins...
ENST00000700267.1:c.481-70_481-66delinsGAAAA ENSP00000514903.1:n.481-70_481-66delinsGA...
ENST00000700268.1:c.481-70_481-66delinsGAAAA ENSP00000514904.1:n.481-70_481-66delinsGA...
ENST00000700269.1:c.481-70_481-66delinsGAAAA ENSP00000514905.1:n.481-70_481-66delinsGA...
ENST00000700270.1:n.737-70_737-66delinsGAAAA
ENST00000700271.1:c.469-70_469-66delinsGAAAA ENSP00000514906.1:n.469-70_469-66delinsGA...
ENST00000700272.1:c.*425-70_*425-66delinsGAAAA ENSP00000514907.1:n.*425-70_*425-66delins...
ENST00000700273.1:c.469-70_469-66delinsGAAAA ENSP00000514908.1:n.469-70_469-66delinsGA...
ENST00000700302.1:c.481-70_481-66delinsGAAAA ENSP00000514929.1:n.481-70_481-66delinsGA...
ENST00000700303.1:c.*143-70_*143-66delinsGAAAA ENSP00000514930.1:n.*143-70_*143-66delins...
ENST00000700304.1:c.*425-70_*425-66delinsGAAAA ENSP00000514931.1:n.*425-70_*425-66delins...
ENST00000700305.1:c.*39-70_*39-66delinsGAAAA ENSP00000514932.1:n.*39-70_*39-66delinsGA...
ENST00000700306.1:c.481-70_481-66delinsGAAAA ENSP00000514933.1:n.481-70_481-66delinsGA...
ENST00000700307.1:c.481-70_481-66delinsGAAAA ENSP00000514934.1:n.481-70_481-66delinsGA...
ENST00000700308.1:c.*425-70_*425-66delinsGAAAA ENSP00000514935.1:n.*425-70_*425-66delins...
ENST00000700309.1:c.*570-70_*570-66delinsGAAAA ENSP00000514936.1:n.*570-70_*570-66delins...
ENST00000700310.1:c.469-70_469-66delinsGAAAA ENSP00000514937.1:n.469-70_469-66delinsGA...
ENST00000700311.1:c.481-70_481-66delinsGAAAA ENSP00000514938.1:n.481-70_481-66delinsGA...
ENST00000700312.1:c.232-70_232-66delinsGAAAA ENSP00000514939.1:n.232-70_232-66delinsGA...
ENST00000700313.1:c.469-70_469-66delinsGAAAA ENSP00000514940.1:n.469-70_469-66delinsGA...
ENST00000700314.1:c.*420-70_*420-66delinsGAAAA ENSP00000514941.1:n.*420-70_*420-66delins...
ENST00000700315.1:c.*39-70_*39-66delinsGAAAA ENSP00000514942.1:n.*39-70_*39-66delinsGA...
ENST00000700316.1:c.*261-70_*261-66delinsGAAAA ENSP00000514943.1:n.*261-70_*261-66delins...
ENST00000700317.1:c.481-70_481-66delinsGAAAA ENSP00000514944.1:n.481-70_481-66delinsGA...
ENST00000700318.1:c.*143-70_*143-66delinsGAAAA ENSP00000514945.1:n.*143-70_*143-66delins...
ENST00000700319.1:c.481-5861_481-5857delinsGAAAA ENSP00000514946.1:n.481-5861_481-5857deli...
ENST00000700320.1:c.481-70_481-66delinsGAAAA ENSP00000514947.1:n.481-70_481-66delinsGA...
ENST00000700321.1:c.481-70_481-66delinsGAAAA ENSP00000514948.1:n.481-70_481-66delinsGA...
ENST00000700322.1:c.469-70_469-66delinsGAAAA ENSP00000514949.1:n.469-70_469-66delinsGA...
ENST00000700323.1:c.481-70_481-66delinsGAAAA ENSP00000514950.1:n.481-70_481-66delinsGA...
ENST00000700324.1:c.469-70_469-66delinsGAAAA ENSP00000514951.1:n.469-70_469-66delinsGA...
ENST00000700375.1:c.481-70_481-66delinsGAAAA ENSP00000514966.1:n.481-70_481-66delinsGA...
ENST00000700376.1:n.1065-70_1065-66delinsGAAAA
ENST00000700377.1:c.481-70_481-66delinsGAAAA ENSP00000514967.1:n.481-70_481-66delinsGA...
ENST00000700378.1:c.481-70_481-66delinsGAAAA ENSP00000514968.1:n.481-70_481-66delinsGA...
ENST00000700379.1:n.879-70_879-66delinsGAAAA
ENST00000700388.1:n.728-70_728-66delinsGAAAA
ENST00000700389.1:c.469-70_469-66delinsGAAAA ENSP00000514970.1:n.469-70_469-66delinsGA...
ENST00000700390.1:n.2192-70_2192-66delinsGAAAA
ENST00000700404.1:n.1364-70_1364-66delinsGAAAA
ENST00000700432.1:n.838-70_838-66delinsGAAAA
ENST00000700433.1:n.616-70_616-66delinsGAAAA
ENST00000700434.1:n.734-70_734-66delinsGAAAA
ENST00000700435.1:n.616-70_616-66delinsGAAAA
ENST00000700436.1:c.481-70_481-66delinsGAAAA ENSP00000514987.1:n.481-70_481-66delinsGA...
ENST00000700437.1:c.232-70_232-66delinsGAAAA ENSP00000514988.1:n.232-70_232-66delinsGA...
ENST00000700467.1:n.738-70_738-66delinsGAAAA
ENST00000700468.1:c.469-70_469-66delinsGAAAA ENSP00000515001.1:n.469-70_469-66delinsGA...
ENST00000700469.1:c.469-70_469-66delinsGAAAA ENSP00000515002.1:n.469-70_469-66delinsGA...
ENST00000324501.10:c.481-70_481-66delinsGAAAA MANE Select ENSP00000326366.5:n.481-70_481-66delinsGA...
ENST00000324501.9:c.481-70_481-66delinsGAAAA ENSP00000326366.5:n.481-70_481-66delinsGA...
ENST00000357710.8:c.469-70_469-66delinsGAAAA ENSP00000350342.4:n.469-70_469-66delinsGA...
ENST00000394164.5:c.469-70_469-66delinsGAAAA ENSP00000377719.1:n.469-70_469-66delinsGA...
ENST00000406768.1:c.205-70_205-66delinsGAAAA ENSP00000385948.1:n.205-70_205-66delinsGA...
ENST00000553855.5:c.481-70_481-66delinsGAAAA ENSP00000452242.1:n.481-70_481-66delinsGA...
ENST00000555386.5:c.469-70_469-66delinsGAAAA ENSP00000450845.1:n.469-70_469-66delinsGA...
ENST00000557511.5:c.481-70_481-66delinsGAAAA ENSP00000451429.1:n.481-70_481-66delinsGA...
NM_000021.3:c.481-70_481-66delinsGAAAA NP_000012.1:n.481-70_481-66delinsGAAAA
NM_007318.2:c.469-70_469-66delinsGAAAA NP_015557.2:n.469-70_469-66delinsGAAAA
XM_005267864.1:c.481-70_481-66delinsGAAAA XP_005267921.1:n.481-70_481-66delinsGAAAA...
XM_005267866.1:c.469-70_469-66delinsGAAAA XP_005267923.1:n.469-70_469-66delinsGAAAA...
XM_011536971.1:c.481-70_481-66delinsGAAAA XP_011535273.1:n.481-70_481-66delinsGAAAA...
XM_011536972.1:c.481-70_481-66delinsGAAAA XP_011535274.1:n.481-70_481-66delinsGAAAA...
XM_011536973.1:c.469-70_469-66delinsGAAAA XP_011535275.1:n.469-70_469-66delinsGAAAA...
XM_011536974.1:c.469-70_469-66delinsGAAAA XP_011535276.1:n.469-70_469-66delinsGAAAA...
XM_005267864.3:c.481-70_481-66delinsGAAAA XP_005267921.1:n.481-70_481-66delinsGAAAA...
XM_005267866.2:c.469-70_469-66delinsGAAAA XP_005267923.1:n.469-70_469-66delinsGAAAA...
XM_011536972.2:c.481-70_481-66delinsGAAAA XP_011535274.1:n.481-70_481-66delinsGAAAA...
XM_011536973.2:c.469-70_469-66delinsGAAAA XP_011535275.1:n.469-70_469-66delinsGAAAA...
XM_011536974.2:c.469-70_469-66delinsGAAAA XP_011535276.1:n.469-70_469-66delinsGAAAA...
NM_000021.4:c.481-70_481-66delinsGAAAA MANE Select NP_000012.1:n.481-70_481-66delinsGAAAA
NM_007318.3:c.469-70_469-66delinsGAAAA NP_015557.2:n.469-70_469-66delinsGAAAA