Canonical Allele Identifier: CA2146494609
Gene: PSEN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.73211273_73211274delinsGC , CM000676.2:g.73211273_73211274delinsGC GRCh38
NC_000014.8:g.73677981_73677982delinsGC , CM000676.1:g.73677981_73677982delinsGC GRCh37
NC_000014.7:g.72747734_72747735delinsGC NCBI36
NG_007386.2:g.79803_79804delinsGC

Transcript Alleles

HGVS Amino-acid change
ENST00000553599.6:c.944-496_944-495delinsGC ENSP00000452477.2:n.944-496_944-495delins...
ENST00000554131.6:c.956-496_956-495delinsGC ENSP00000451915.2:n.956-496_956-495delins...
ENST00000554995.2:n.1706-496_1706-495delinsGC
ENST00000555386.6:c.1036-496_1036-495delinsGC ENSP00000450845.1:n.1036-496_1036-495deli...
ENST00000556066.2:n.1382-496_1382-495delinsGC
ENST00000556951.6:c.944-496_944-495delinsGC ENSP00000450551.2:n.944-496_944-495delins...
ENST00000557293.6:c.836-496_836-495delinsGC ENSP00000451880.2:n.836-496_836-495delins...
ENST00000559361.6:c.*900-496_*900-495delinsGC ENSP00000454156.1:n.*900-496_*900-495deli...
ENST00000697912.1:c.944-496_944-495delinsGC ENSP00000513477.1:n.944-496_944-495delins...
ENST00000697913.1:n.6010_6011delinsGC
ENST00000700265.1:c.944-496_944-495delinsGC ENSP00000514901.1:n.944-496_944-495delins...
ENST00000700266.1:c.*1168-496_*1168-495delinsGC ENSP00000514902.1:n.*1168-496_*1168-495de...
ENST00000700267.1:c.956-496_956-495delinsGC ENSP00000514903.1:n.956-496_956-495delins...
ENST00000700268.1:c.956-496_956-495delinsGC ENSP00000514904.1:n.956-496_956-495delins...
ENST00000700269.1:c.956-496_956-495delinsGC ENSP00000514905.1:n.956-496_956-495delins...
ENST00000700271.1:c.943+4801_943+4802delinsGC ENSP00000514906.1:n.943+4801_943+4802deli...
ENST00000700272.1:c.*900-496_*900-495delinsGC ENSP00000514907.1:n.*900-496_*900-495deli...
ENST00000700273.1:c.944-496_944-495delinsGC ENSP00000514908.1:n.944-496_944-495delins...
ENST00000700302.1:c.956-496_956-495delinsGC ENSP00000514929.1:n.956-496_956-495delins...
ENST00000700303.1:c.*618-496_*618-495delinsGC ENSP00000514930.1:n.*618-496_*618-495deli...
ENST00000700304.1:c.*900-496_*900-495delinsGC ENSP00000514931.1:n.*900-496_*900-495deli...
ENST00000700305.1:c.*514-496_*514-495delinsGC ENSP00000514932.1:n.*514-496_*514-495deli...
ENST00000700306.1:c.956-496_956-495delinsGC ENSP00000514933.1:n.956-496_956-495delins...
ENST00000700307.1:c.857-496_857-495delinsGC ENSP00000514934.1:n.857-496_857-495delins...
ENST00000700308.1:c.*900-496_*900-495delinsGC ENSP00000514935.1:n.*900-496_*900-495deli...
ENST00000700309.1:c.*1045-496_*1045-495delinsGC ENSP00000514936.1:n.*1045-496_*1045-495de...
ENST00000700310.1:c.937-496_937-495delinsGC ENSP00000514937.1:n.937-496_937-495delins...
ENST00000700311.1:c.956-496_956-495delinsGC ENSP00000514938.1:n.956-496_956-495delins...
ENST00000700312.1:c.707-496_707-495delinsGC ENSP00000514939.1:n.707-496_707-495delins...
ENST00000700313.1:c.944-496_944-495delinsGC ENSP00000514940.1:n.944-496_944-495delins...
ENST00000700314.1:c.*895-496_*895-495delinsGC ENSP00000514941.1:n.*895-496_*895-495deli...
ENST00000700315.1:c.*514-496_*514-495delinsGC ENSP00000514942.1:n.*514-496_*514-495deli...
ENST00000700316.1:c.*736-496_*736-495delinsGC ENSP00000514943.1:n.*736-496_*736-495deli...
ENST00000700317.1:c.956-496_956-495delinsGC ENSP00000514944.1:n.956-496_956-495delins...
ENST00000700318.1:c.*618-496_*618-495delinsGC ENSP00000514945.1:n.*618-496_*618-495deli...
ENST00000700319.1:c.*396-496_*396-495delinsGC ENSP00000514946.1:n.*396-496_*396-495deli...
ENST00000700320.1:c.983-496_983-495delinsGC ENSP00000514947.1:n.983-496_983-495delins...
ENST00000700321.1:c.956-496_956-495delinsGC ENSP00000514948.1:n.956-496_956-495delins...
ENST00000700322.1:c.944-496_944-495delinsGC ENSP00000514949.1:n.944-496_944-495delins...
ENST00000700323.1:c.956-496_956-495delinsGC ENSP00000514950.1:n.956-496_956-495delins...
ENST00000700324.1:c.944-496_944-495delinsGC ENSP00000514951.1:n.944-496_944-495delins...
ENST00000700375.1:c.956-496_956-495delinsGC ENSP00000514966.1:n.956-496_956-495delins...
ENST00000700377.1:c.*424-496_*424-495delinsGC ENSP00000514967.1:n.*424-496_*424-495deli...
ENST00000700378.1:c.956-496_956-495delinsGC ENSP00000514968.1:n.956-496_956-495delins...
ENST00000700379.1:n.1354-496_1354-495delinsGC
ENST00000700389.1:c.944-496_944-495delinsGC ENSP00000514970.1:n.944-496_944-495delins...
ENST00000700390.1:n.2667-496_2667-495delinsGC
ENST00000700391.1:n.167-496_167-495delinsGC
ENST00000700404.1:n.1955-496_1955-495delinsGC
ENST00000700435.1:n.1091-496_1091-495delinsGC
ENST00000700436.1:c.1048-496_1048-495delinsGC ENSP00000514987.1:n.1048-496_1048-495deli...
ENST00000700437.1:c.707-496_707-495delinsGC ENSP00000514988.1:n.707-496_707-495delins...
ENST00000700468.1:c.845-496_845-495delinsGC ENSP00000515001.1:n.845-496_845-495delins...
ENST00000700469.1:c.944-496_944-495delinsGC ENSP00000515002.1:n.944-496_944-495delins...
ENST00000324501.10:c.956-496_956-495delinsGC MANE Select ENSP00000326366.5:n.956-496_956-495delins...
ENST00000324501.9:c.956-496_956-495delinsGC ENSP00000326366.5:n.956-496_956-495delins...
ENST00000357710.8:c.944-496_944-495delinsGC ENSP00000350342.4:n.944-496_944-495delins...
ENST00000394164.5:c.944-496_944-495delinsGC ENSP00000377719.1:n.944-496_944-495delins...
ENST00000406768.1:c.680-496_680-495delinsGC ENSP00000385948.1:n.680-496_680-495delins...
ENST00000553855.5:c.1048-496_1048-495delinsGC ENSP00000452242.1:n.1048-496_1048-495deli...
ENST00000554995.1:n.508-496_508-495delinsGC
ENST00000555386.5:c.1036-496_1036-495delinsGC ENSP00000450845.1:n.1036-496_1036-495deli...
ENST00000555867.1:n.321-496_321-495delinsGC
ENST00000557511.5:c.955+4801_955+4802delinsGC ENSP00000451429.1:n.955+4801_955+4802deli...
NM_000021.3:c.956-496_956-495delinsGC NP_000012.1:n.956-496_956-495delinsGC
NM_007318.2:c.944-496_944-495delinsGC NP_015557.2:n.944-496_944-495delinsGC
XM_005267864.1:c.956-496_956-495delinsGC XP_005267921.1:n.956-496_956-495delinsGC
XM_005267866.1:c.944-496_944-495delinsGC XP_005267923.1:n.944-496_944-495delinsGC
XM_011536971.1:c.956-496_956-495delinsGC XP_011535273.1:n.956-496_956-495delinsGC
XM_011536972.1:c.956-496_956-495delinsGC XP_011535274.1:n.956-496_956-495delinsGC
XM_011536973.1:c.944-496_944-495delinsGC XP_011535275.1:n.944-496_944-495delinsGC
XM_011536974.1:c.944-496_944-495delinsGC XP_011535276.1:n.944-496_944-495delinsGC
XM_005267864.3:c.956-496_956-495delinsGC XP_005267921.1:n.956-496_956-495delinsGC
XM_005267866.2:c.944-496_944-495delinsGC XP_005267923.1:n.944-496_944-495delinsGC
XM_011536972.2:c.956-496_956-495delinsGC XP_011535274.1:n.956-496_956-495delinsGC
XM_011536973.2:c.944-496_944-495delinsGC XP_011535275.1:n.944-496_944-495delinsGC
XM_011536974.2:c.944-496_944-495delinsGC XP_011535276.1:n.944-496_944-495delinsGC
NM_000021.4:c.956-496_956-495delinsGC MANE Select NP_000012.1:n.956-496_956-495delinsGC
NM_007318.3:c.944-496_944-495delinsGC NP_015557.2:n.944-496_944-495delinsGC