Canonical Allele Identifier: CA2146494448
Gene: PSEN1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.73211068_73211072delinsCAGTT , CM000676.2:g.73211068_73211072delinsCAGTT GRCh38
NC_000014.8:g.73677776_73677780delinsCAGTT , CM000676.1:g.73677776_73677780delinsCAGTT GRCh37
NC_000014.7:g.72747529_72747533delinsCAGTT NCBI36
NG_007386.2:g.79598_79602delinsCAGTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000553599.6:c.944-701_944-697delinsCAGTT ENSP00000452477.2:n.944-701_944-697delinsCAGTT
ENST00000554131.6:c.956-701_956-697delinsCAGTT ENSP00000451915.2:n.956-701_956-697delinsCAGTT
ENST00000554995.2:n.1706-701_1706-697delinsCAGTT
ENST00000555386.6:c.1036-701_1036-697delinsCAGTT ENSP00000450845.1:n.1036-701_1036-697delinsCAGTT
ENST00000556066.2:n.1382-701_1382-697delinsCAGTT
ENST00000556951.6:c.944-701_944-697delinsCAGTT ENSP00000450551.2:n.944-701_944-697delinsCAGTT
ENST00000557293.6:c.836-701_836-697delinsCAGTT ENSP00000451880.2:n.836-701_836-697delinsCAGTT
ENST00000559361.6:c.*900-701_*900-697delinsCAGTT ENSP00000454156.1:n.*900-701_*900-697delinsCAGTT
ENST00000697912.1:c.944-701_944-697delinsCAGTT ENSP00000513477.1:n.944-701_944-697delinsCAGTT
ENST00000697913.1:n.5805_5809delinsCAGTT
ENST00000700265.1:c.944-701_944-697delinsCAGTT ENSP00000514901.1:n.944-701_944-697delinsCAGTT
ENST00000700266.1:c.*1168-701_*1168-697delinsCAGTT ENSP00000514902.1:n.*1168-701_*1168-697delinsCAGTT
ENST00000700267.1:c.956-701_956-697delinsCAGTT ENSP00000514903.1:n.956-701_956-697delinsCAGTT
ENST00000700268.1:c.956-701_956-697delinsCAGTT ENSP00000514904.1:n.956-701_956-697delinsCAGTT
ENST00000700269.1:c.956-701_956-697delinsCAGTT ENSP00000514905.1:n.956-701_956-697delinsCAGTT
ENST00000700271.1:c.943+4596_943+4600delinsCAGTT ENSP00000514906.1:n.943+4596_943+4600delinsCAGTT
ENST00000700272.1:c.*900-701_*900-697delinsCAGTT ENSP00000514907.1:n.*900-701_*900-697delinsCAGTT
ENST00000700273.1:c.944-701_944-697delinsCAGTT ENSP00000514908.1:n.944-701_944-697delinsCAGTT
ENST00000700302.1:c.956-701_956-697delinsCAGTT ENSP00000514929.1:n.956-701_956-697delinsCAGTT
ENST00000700303.1:c.*618-701_*618-697delinsCAGTT ENSP00000514930.1:n.*618-701_*618-697delinsCAGTT
ENST00000700304.1:c.*900-701_*900-697delinsCAGTT ENSP00000514931.1:n.*900-701_*900-697delinsCAGTT
ENST00000700305.1:c.*514-701_*514-697delinsCAGTT ENSP00000514932.1:n.*514-701_*514-697delinsCAGTT
ENST00000700306.1:c.956-701_956-697delinsCAGTT ENSP00000514933.1:n.956-701_956-697delinsCAGTT
ENST00000700307.1:c.857-701_857-697delinsCAGTT ENSP00000514934.1:n.857-701_857-697delinsCAGTT
ENST00000700308.1:c.*900-701_*900-697delinsCAGTT ENSP00000514935.1:n.*900-701_*900-697delinsCAGTT
ENST00000700309.1:c.*1045-701_*1045-697delinsCAGTT ENSP00000514936.1:n.*1045-701_*1045-697delinsCAGTT
ENST00000700310.1:c.937-701_937-697delinsCAGTT ENSP00000514937.1:n.937-701_937-697delinsCAGTT
ENST00000700311.1:c.956-701_956-697delinsCAGTT ENSP00000514938.1:n.956-701_956-697delinsCAGTT
ENST00000700312.1:c.707-701_707-697delinsCAGTT ENSP00000514939.1:n.707-701_707-697delinsCAGTT
ENST00000700313.1:c.944-701_944-697delinsCAGTT ENSP00000514940.1:n.944-701_944-697delinsCAGTT
ENST00000700314.1:c.*895-701_*895-697delinsCAGTT ENSP00000514941.1:n.*895-701_*895-697delinsCAGTT
ENST00000700315.1:c.*514-701_*514-697delinsCAGTT ENSP00000514942.1:n.*514-701_*514-697delinsCAGTT
ENST00000700316.1:c.*736-701_*736-697delinsCAGTT ENSP00000514943.1:n.*736-701_*736-697delinsCAGTT
ENST00000700317.1:c.956-701_956-697delinsCAGTT ENSP00000514944.1:n.956-701_956-697delinsCAGTT
ENST00000700318.1:c.*618-701_*618-697delinsCAGTT ENSP00000514945.1:n.*618-701_*618-697delinsCAGTT
ENST00000700319.1:c.*396-701_*396-697delinsCAGTT ENSP00000514946.1:n.*396-701_*396-697delinsCAGTT
ENST00000700320.1:c.983-701_983-697delinsCAGTT ENSP00000514947.1:n.983-701_983-697delinsCAGTT
ENST00000700321.1:c.956-701_956-697delinsCAGTT ENSP00000514948.1:n.956-701_956-697delinsCAGTT
ENST00000700322.1:c.944-701_944-697delinsCAGTT ENSP00000514949.1:n.944-701_944-697delinsCAGTT
ENST00000700323.1:c.956-701_956-697delinsCAGTT ENSP00000514950.1:n.956-701_956-697delinsCAGTT
ENST00000700324.1:c.944-701_944-697delinsCAGTT ENSP00000514951.1:n.944-701_944-697delinsCAGTT
ENST00000700375.1:c.956-701_956-697delinsCAGTT ENSP00000514966.1:n.956-701_956-697delinsCAGTT
ENST00000700377.1:c.*424-701_*424-697delinsCAGTT ENSP00000514967.1:n.*424-701_*424-697delinsCAGTT
ENST00000700378.1:c.956-701_956-697delinsCAGTT ENSP00000514968.1:n.956-701_956-697delinsCAGTT
ENST00000700379.1:n.1354-701_1354-697delinsCAGTT
ENST00000700389.1:c.944-701_944-697delinsCAGTT ENSP00000514970.1:n.944-701_944-697delinsCAGTT
ENST00000700390.1:n.2667-701_2667-697delinsCAGTT
ENST00000700391.1:n.167-701_167-697delinsCAGTT
ENST00000700404.1:n.1955-701_1955-697delinsCAGTT
ENST00000700435.1:n.1091-701_1091-697delinsCAGTT
ENST00000700436.1:c.1048-701_1048-697delinsCAGTT ENSP00000514987.1:n.1048-701_1048-697delinsCAGTT
ENST00000700437.1:c.707-701_707-697delinsCAGTT ENSP00000514988.1:n.707-701_707-697delinsCAGTT
ENST00000700468.1:c.845-701_845-697delinsCAGTT ENSP00000515001.1:n.845-701_845-697delinsCAGTT
ENST00000700469.1:c.944-701_944-697delinsCAGTT ENSP00000515002.1:n.944-701_944-697delinsCAGTT
ENST00000324501.10:c.956-701_956-697delinsCAGTT MANE Select ENSP00000326366.5:n.956-701_956-697delinsCAGTT
ENST00000324501.9:c.956-701_956-697delinsCAGTT ENSP00000326366.5:n.956-701_956-697delinsCAGTT
ENST00000357710.8:c.944-701_944-697delinsCAGTT ENSP00000350342.4:n.944-701_944-697delinsCAGTT
ENST00000394164.5:c.944-701_944-697delinsCAGTT ENSP00000377719.1:n.944-701_944-697delinsCAGTT
ENST00000406768.1:c.680-701_680-697delinsCAGTT ENSP00000385948.1:n.680-701_680-697delinsCAGTT
ENST00000553855.5:c.1048-701_1048-697delinsCAGTT ENSP00000452242.1:n.1048-701_1048-697delinsCAGTT
ENST00000554995.1:n.508-701_508-697delinsCAGTT
ENST00000555386.5:c.1036-701_1036-697delinsCAGTT ENSP00000450845.1:n.1036-701_1036-697delinsCAGTT
ENST00000555867.1:n.321-701_321-697delinsCAGTT
ENST00000557511.5:c.955+4596_955+4600delinsCAGTT ENSP00000451429.1:n.955+4596_955+4600delinsCAGTT
NM_000021.3:c.956-701_956-697delinsCAGTT NP_000012.1:n.956-701_956-697delinsCAGTT
NM_007318.2:c.944-701_944-697delinsCAGTT NP_015557.2:n.944-701_944-697delinsCAGTT
XM_005267864.1:c.956-701_956-697delinsCAGTT XP_005267921.1:n.956-701_956-697delinsCAGTT
XM_005267866.1:c.944-701_944-697delinsCAGTT XP_005267923.1:n.944-701_944-697delinsCAGTT
XM_011536971.1:c.956-701_956-697delinsCAGTT XP_011535273.1:n.956-701_956-697delinsCAGTT
XM_011536972.1:c.956-701_956-697delinsCAGTT XP_011535274.1:n.956-701_956-697delinsCAGTT
XM_011536973.1:c.944-701_944-697delinsCAGTT XP_011535275.1:n.944-701_944-697delinsCAGTT
XM_011536974.1:c.944-701_944-697delinsCAGTT XP_011535276.1:n.944-701_944-697delinsCAGTT
XM_005267864.3:c.956-701_956-697delinsCAGTT XP_005267921.1:n.956-701_956-697delinsCAGTT
XM_005267866.2:c.944-701_944-697delinsCAGTT XP_005267923.1:n.944-701_944-697delinsCAGTT
XM_011536972.2:c.956-701_956-697delinsCAGTT XP_011535274.1:n.956-701_956-697delinsCAGTT
XM_011536973.2:c.944-701_944-697delinsCAGTT XP_011535275.1:n.944-701_944-697delinsCAGTT
XM_011536974.2:c.944-701_944-697delinsCAGTT XP_011535276.1:n.944-701_944-697delinsCAGTT
NM_000021.4:c.956-701_956-697delinsCAGTT MANE Select NP_000012.1:n.956-701_956-697delinsCAGTT
NM_007318.3:c.944-701_944-697delinsCAGTT NP_015557.2:n.944-701_944-697delinsCAGTT
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