Canonical Allele Identifier: CA919449594
Gene: PSEN1 HGNC NCBI

Linked Data

dbSNP Id: rs1594754232
gnomAD v3: 14-73211537-CAG-C
gnomAD v4: 14-73211537-CAG-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.73211540_73211541del , CM000676.2:g.73211540_73211541del GRCh38
NC_000014.8:g.73678248_73678249del , CM000676.1:g.73678248_73678249del GRCh37
NC_000014.7:g.72748001_72748002del NCBI36
NG_007386.2:g.80070_80071del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553599.6:c.944-229_944-228del ENSP00000452477.2:n.944-229_944-228del
ENST00000554131.6:c.956-229_956-228del ENSP00000451915.2:n.956-229_956-228del
ENST00000554995.2:n.1706-229_1706-228del
ENST00000555386.6:c.1036-229_1036-228del ENSP00000450845.1:n.1036-229_1036-228del
ENST00000556066.2:n.1382-229_1382-228del
ENST00000556951.6:c.944-229_944-228del ENSP00000450551.2:n.944-229_944-228del
ENST00000557293.6:c.836-229_836-228del ENSP00000451880.2:n.836-229_836-228del
ENST00000559361.6:c.*900-229_*900-228del ENSP00000454156.1:n.*900-229_*900-228del
ENST00000697912.1:c.944-229_944-228del ENSP00000513477.1:n.944-229_944-228del
ENST00000697913.1:n.6277_6278del
ENST00000700265.1:c.944-229_944-228del ENSP00000514901.1:n.944-229_944-228del
ENST00000700266.1:c.*1168-229_*1168-228del ENSP00000514902.1:n.*1168-229_*1168-228del
ENST00000700267.1:c.956-229_956-228del ENSP00000514903.1:n.956-229_956-228del
ENST00000700268.1:c.956-229_956-228del ENSP00000514904.1:n.956-229_956-228del
ENST00000700269.1:c.956-229_956-228del ENSP00000514905.1:n.956-229_956-228del
ENST00000700271.1:c.943+5068_943+5069del ENSP00000514906.1:n.943+5068_943+5069del
ENST00000700272.1:c.*900-229_*900-228del ENSP00000514907.1:n.*900-229_*900-228del
ENST00000700273.1:c.944-229_944-228del ENSP00000514908.1:n.944-229_944-228del
ENST00000700302.1:c.956-229_956-228del ENSP00000514929.1:n.956-229_956-228del
ENST00000700303.1:c.*618-229_*618-228del ENSP00000514930.1:n.*618-229_*618-228del
ENST00000700304.1:c.*900-229_*900-228del ENSP00000514931.1:n.*900-229_*900-228del
ENST00000700305.1:c.*514-229_*514-228del ENSP00000514932.1:n.*514-229_*514-228del
ENST00000700306.1:c.956-229_956-228del ENSP00000514933.1:n.956-229_956-228del
ENST00000700307.1:c.857-229_857-228del ENSP00000514934.1:n.857-229_857-228del
ENST00000700308.1:c.*900-229_*900-228del ENSP00000514935.1:n.*900-229_*900-228del
ENST00000700309.1:c.*1045-229_*1045-228del ENSP00000514936.1:n.*1045-229_*1045-228del
ENST00000700310.1:c.937-229_937-228del ENSP00000514937.1:n.937-229_937-228del
ENST00000700311.1:c.956-229_956-228del ENSP00000514938.1:n.956-229_956-228del
ENST00000700312.1:c.707-229_707-228del ENSP00000514939.1:n.707-229_707-228del
ENST00000700313.1:c.944-229_944-228del ENSP00000514940.1:n.944-229_944-228del
ENST00000700314.1:c.*895-229_*895-228del ENSP00000514941.1:n.*895-229_*895-228del
ENST00000700315.1:c.*514-229_*514-228del ENSP00000514942.1:n.*514-229_*514-228del
ENST00000700316.1:c.*736-229_*736-228del ENSP00000514943.1:n.*736-229_*736-228del
ENST00000700317.1:c.956-229_956-228del ENSP00000514944.1:n.956-229_956-228del
ENST00000700318.1:c.*618-229_*618-228del ENSP00000514945.1:n.*618-229_*618-228del
ENST00000700319.1:c.*396-229_*396-228del ENSP00000514946.1:n.*396-229_*396-228del
ENST00000700320.1:c.983-229_983-228del ENSP00000514947.1:n.983-229_983-228del
ENST00000700321.1:c.956-229_956-228del ENSP00000514948.1:n.956-229_956-228del
ENST00000700322.1:c.944-229_944-228del ENSP00000514949.1:n.944-229_944-228del
ENST00000700323.1:c.956-229_956-228del ENSP00000514950.1:n.956-229_956-228del
ENST00000700324.1:c.944-229_944-228del ENSP00000514951.1:n.944-229_944-228del
ENST00000700375.1:c.956-229_956-228del ENSP00000514966.1:n.956-229_956-228del
ENST00000700377.1:c.*424-229_*424-228del ENSP00000514967.1:n.*424-229_*424-228del
ENST00000700378.1:c.956-229_956-228del ENSP00000514968.1:n.956-229_956-228del
ENST00000700379.1:n.1354-229_1354-228del
ENST00000700389.1:c.944-229_944-228del ENSP00000514970.1:n.944-229_944-228del
ENST00000700390.1:n.2667-229_2667-228del
ENST00000700391.1:n.167-229_167-228del
ENST00000700404.1:n.1955-229_1955-228del
ENST00000700435.1:n.1091-229_1091-228del
ENST00000700436.1:c.1048-229_1048-228del ENSP00000514987.1:n.1048-229_1048-228del
ENST00000700437.1:c.707-229_707-228del ENSP00000514988.1:n.707-229_707-228del
ENST00000700468.1:c.845-229_845-228del ENSP00000515001.1:n.845-229_845-228del
ENST00000700469.1:c.944-229_944-228del ENSP00000515002.1:n.944-229_944-228del
ENST00000324501.10:c.956-229_956-228del MANE Select ENSP00000326366.5:n.956-229_956-228del
ENST00000324501.9:c.956-229_956-228del ENSP00000326366.5:n.956-229_956-228del
ENST00000357710.8:c.944-229_944-228del ENSP00000350342.4:n.944-229_944-228del
ENST00000394164.5:c.944-229_944-228del ENSP00000377719.1:n.944-229_944-228del
ENST00000406768.1:c.680-229_680-228del ENSP00000385948.1:n.680-229_680-228del
ENST00000553855.5:c.1048-229_1048-228del ENSP00000452242.1:n.1048-229_1048-228del
ENST00000554995.1:n.508-229_508-228del
ENST00000555386.5:c.1036-229_1036-228del ENSP00000450845.1:n.1036-229_1036-228del
ENST00000555867.1:n.321-229_321-228del
ENST00000557511.5:c.955+5068_955+5069del ENSP00000451429.1:n.955+5068_955+5069del
NM_000021.3:c.956-229_956-228del NP_000012.1:n.956-229_956-228del
NM_007318.2:c.944-229_944-228del NP_015557.2:n.944-229_944-228del
XM_005267864.1:c.956-229_956-228del XP_005267921.1:n.956-229_956-228del
XM_005267866.1:c.944-229_944-228del XP_005267923.1:n.944-229_944-228del
XM_011536971.1:c.956-229_956-228del XP_011535273.1:n.956-229_956-228del
XM_011536972.1:c.956-229_956-228del XP_011535274.1:n.956-229_956-228del
XM_011536973.1:c.944-229_944-228del XP_011535275.1:n.944-229_944-228del
XM_011536974.1:c.944-229_944-228del XP_011535276.1:n.944-229_944-228del
XM_005267864.3:c.956-229_956-228del XP_005267921.1:n.956-229_956-228del
XM_005267866.2:c.944-229_944-228del XP_005267923.1:n.944-229_944-228del
XM_011536972.2:c.956-229_956-228del XP_011535274.1:n.956-229_956-228del
XM_011536973.2:c.944-229_944-228del XP_011535275.1:n.944-229_944-228del
XM_011536974.2:c.944-229_944-228del XP_011535276.1:n.944-229_944-228del
NM_000021.4:c.956-229_956-228del MANE Select NP_000012.1:n.956-229_956-228del
NM_007318.3:c.944-229_944-228del NP_015557.2:n.944-229_944-228del
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