Canonical Allele Identifier: CA2500155598
Gene: PSEN1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.73211268_73211269insAT , CM000676.2:g.73211268_73211269insAT GRCh38
NC_000014.8:g.73677976_73677977insAT , CM000676.1:g.73677976_73677977insAT GRCh37
NC_000014.7:g.72747729_72747730insAT NCBI36
NG_007386.2:g.79798_79799insAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000553599.6:c.944-501_944-500insAT ENSP00000452477.2:n.944-501_944-500insAT
ENST00000554131.6:c.956-501_956-500insAT ENSP00000451915.2:n.956-501_956-500insAT
ENST00000554995.2:n.1706-501_1706-500insAT
ENST00000555386.6:c.1036-501_1036-500insAT ENSP00000450845.1:n.1036-501_1036-500insAT
ENST00000556066.2:n.1382-501_1382-500insAT
ENST00000556951.6:c.944-501_944-500insAT ENSP00000450551.2:n.944-501_944-500insAT
ENST00000557293.6:c.836-501_836-500insAT ENSP00000451880.2:n.836-501_836-500insAT
ENST00000559361.6:c.*900-501_*900-500insAT ENSP00000454156.1:n.*900-501_*900-500insAT
ENST00000697912.1:c.944-501_944-500insAT ENSP00000513477.1:n.944-501_944-500insAT
ENST00000697913.1:n.6005_6006insAT
ENST00000700265.1:c.944-501_944-500insAT ENSP00000514901.1:n.944-501_944-500insAT
ENST00000700266.1:c.*1168-501_*1168-500insAT ENSP00000514902.1:n.*1168-501_*1168-500insAT
ENST00000700267.1:c.956-501_956-500insAT ENSP00000514903.1:n.956-501_956-500insAT
ENST00000700268.1:c.956-501_956-500insAT ENSP00000514904.1:n.956-501_956-500insAT
ENST00000700269.1:c.956-501_956-500insAT ENSP00000514905.1:n.956-501_956-500insAT
ENST00000700271.1:c.943+4796_943+4797insAT ENSP00000514906.1:n.943+4796_943+4797insAT
ENST00000700272.1:c.*900-501_*900-500insAT ENSP00000514907.1:n.*900-501_*900-500insAT
ENST00000700273.1:c.944-501_944-500insAT ENSP00000514908.1:n.944-501_944-500insAT
ENST00000700302.1:c.956-501_956-500insAT ENSP00000514929.1:n.956-501_956-500insAT
ENST00000700303.1:c.*618-501_*618-500insAT ENSP00000514930.1:n.*618-501_*618-500insAT
ENST00000700304.1:c.*900-501_*900-500insAT ENSP00000514931.1:n.*900-501_*900-500insAT
ENST00000700305.1:c.*514-501_*514-500insAT ENSP00000514932.1:n.*514-501_*514-500insAT
ENST00000700306.1:c.956-501_956-500insAT ENSP00000514933.1:n.956-501_956-500insAT
ENST00000700307.1:c.857-501_857-500insAT ENSP00000514934.1:n.857-501_857-500insAT
ENST00000700308.1:c.*900-501_*900-500insAT ENSP00000514935.1:n.*900-501_*900-500insAT
ENST00000700309.1:c.*1045-501_*1045-500insAT ENSP00000514936.1:n.*1045-501_*1045-500insAT
ENST00000700310.1:c.937-501_937-500insAT ENSP00000514937.1:n.937-501_937-500insAT
ENST00000700311.1:c.956-501_956-500insAT ENSP00000514938.1:n.956-501_956-500insAT
ENST00000700312.1:c.707-501_707-500insAT ENSP00000514939.1:n.707-501_707-500insAT
ENST00000700313.1:c.944-501_944-500insAT ENSP00000514940.1:n.944-501_944-500insAT
ENST00000700314.1:c.*895-501_*895-500insAT ENSP00000514941.1:n.*895-501_*895-500insAT
ENST00000700315.1:c.*514-501_*514-500insAT ENSP00000514942.1:n.*514-501_*514-500insAT
ENST00000700316.1:c.*736-501_*736-500insAT ENSP00000514943.1:n.*736-501_*736-500insAT
ENST00000700317.1:c.956-501_956-500insAT ENSP00000514944.1:n.956-501_956-500insAT
ENST00000700318.1:c.*618-501_*618-500insAT ENSP00000514945.1:n.*618-501_*618-500insAT
ENST00000700319.1:c.*396-501_*396-500insAT ENSP00000514946.1:n.*396-501_*396-500insAT
ENST00000700320.1:c.983-501_983-500insAT ENSP00000514947.1:n.983-501_983-500insAT
ENST00000700321.1:c.956-501_956-500insAT ENSP00000514948.1:n.956-501_956-500insAT
ENST00000700322.1:c.944-501_944-500insAT ENSP00000514949.1:n.944-501_944-500insAT
ENST00000700323.1:c.956-501_956-500insAT ENSP00000514950.1:n.956-501_956-500insAT
ENST00000700324.1:c.944-501_944-500insAT ENSP00000514951.1:n.944-501_944-500insAT
ENST00000700375.1:c.956-501_956-500insAT ENSP00000514966.1:n.956-501_956-500insAT
ENST00000700377.1:c.*424-501_*424-500insAT ENSP00000514967.1:n.*424-501_*424-500insAT
ENST00000700378.1:c.956-501_956-500insAT ENSP00000514968.1:n.956-501_956-500insAT
ENST00000700379.1:n.1354-501_1354-500insAT
ENST00000700389.1:c.944-501_944-500insAT ENSP00000514970.1:n.944-501_944-500insAT
ENST00000700390.1:n.2667-501_2667-500insAT
ENST00000700391.1:n.167-501_167-500insAT
ENST00000700404.1:n.1955-501_1955-500insAT
ENST00000700435.1:n.1091-501_1091-500insAT
ENST00000700436.1:c.1048-501_1048-500insAT ENSP00000514987.1:n.1048-501_1048-500insAT
ENST00000700437.1:c.707-501_707-500insAT ENSP00000514988.1:n.707-501_707-500insAT
ENST00000700468.1:c.845-501_845-500insAT ENSP00000515001.1:n.845-501_845-500insAT
ENST00000700469.1:c.944-501_944-500insAT ENSP00000515002.1:n.944-501_944-500insAT
ENST00000324501.10:c.956-501_956-500insAT MANE Select ENSP00000326366.5:n.956-501_956-500insAT
ENST00000324501.9:c.956-501_956-500insAT ENSP00000326366.5:n.956-501_956-500insAT
ENST00000357710.8:c.944-501_944-500insAT ENSP00000350342.4:n.944-501_944-500insAT
ENST00000394164.5:c.944-501_944-500insAT ENSP00000377719.1:n.944-501_944-500insAT
ENST00000406768.1:c.680-501_680-500insAT ENSP00000385948.1:n.680-501_680-500insAT
ENST00000553855.5:c.1048-501_1048-500insAT ENSP00000452242.1:n.1048-501_1048-500insAT
ENST00000554995.1:n.508-501_508-500insAT
ENST00000555386.5:c.1036-501_1036-500insAT ENSP00000450845.1:n.1036-501_1036-500insAT
ENST00000555867.1:n.321-501_321-500insAT
ENST00000557511.5:c.955+4796_955+4797insAT ENSP00000451429.1:n.955+4796_955+4797insAT
NM_000021.3:c.956-501_956-500insAT NP_000012.1:n.956-501_956-500insAT
NM_007318.2:c.944-501_944-500insAT NP_015557.2:n.944-501_944-500insAT
XM_005267864.1:c.956-501_956-500insAT XP_005267921.1:n.956-501_956-500insAT
XM_005267866.1:c.944-501_944-500insAT XP_005267923.1:n.944-501_944-500insAT
XM_011536971.1:c.956-501_956-500insAT XP_011535273.1:n.956-501_956-500insAT
XM_011536972.1:c.956-501_956-500insAT XP_011535274.1:n.956-501_956-500insAT
XM_011536973.1:c.944-501_944-500insAT XP_011535275.1:n.944-501_944-500insAT
XM_011536974.1:c.944-501_944-500insAT XP_011535276.1:n.944-501_944-500insAT
XM_005267864.3:c.956-501_956-500insAT XP_005267921.1:n.956-501_956-500insAT
XM_005267866.2:c.944-501_944-500insAT XP_005267923.1:n.944-501_944-500insAT
XM_011536972.2:c.956-501_956-500insAT XP_011535274.1:n.956-501_956-500insAT
XM_011536973.2:c.944-501_944-500insAT XP_011535275.1:n.944-501_944-500insAT
XM_011536974.2:c.944-501_944-500insAT XP_011535276.1:n.944-501_944-500insAT
NM_000021.4:c.956-501_956-500insAT MANE Select NP_000012.1:n.956-501_956-500insAT
NM_007318.3:c.944-501_944-500insAT NP_015557.2:n.944-501_944-500insAT
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