Canonical Allele Identifier: CA2695219499
Gene: PSEN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.73206386_73206472del , CM000676.2:g.73206386_73206472del GRCh38
NC_000014.8:g.73673094_73673180del , CM000676.1:g.73673094_73673180del GRCh37
NC_000014.7:g.72742847_72742933del NCBI36
NG_007386.2:g.74916_75002del

Transcript Alleles

HGVS Amino-acid change
ENST00000553599.6:c.857_943del ENSP00000452477.2:p.Ser286_Ser315delinsCy...
ENST00000554131.6:c.869_955del ENSP00000451915.2:p.Ser290_Ser319delinsCy...
ENST00000554995.2:n.1619_1705del
ENST00000555386.6:c.857_943del ENSP00000450845.1:p.Ser286Ter
ENST00000556066.2:n.1295_1381del
ENST00000556951.6:c.857_943del ENSP00000450551.2:p.Ser286_Ser315delinsCy...
ENST00000557293.6:c.749_835del ENSP00000451880.2:p.Ser250_Ser279delinsCy...
ENST00000559361.6:c.*813_*899del ENSP00000454156.1:n.*813_*899del
ENST00000697912.1:c.857_943del ENSP00000513477.1:p.Ser286_Ser315delinsCy...
ENST00000697913.1:n.1123_1209del
ENST00000700265.1:c.857_943del ENSP00000514901.1:p.Ser286_Ser315delinsCy...
ENST00000700266.1:c.*1081_*1167del ENSP00000514902.1:n.*1081_*1167del
ENST00000700267.1:c.869_955del ENSP00000514903.1:p.Ser290_Ser319delinsCy...
ENST00000700268.1:c.869_955del ENSP00000514904.1:p.Ser290_Ser319delinsCy...
ENST00000700269.1:c.869_955del ENSP00000514905.1:p.Ser290_Ser319delinsCy...
ENST00000700270.1:n.1125_1211del
ENST00000700271.1:c.857_943del ENSP00000514906.1:p.Ser286_Arg315delinsTr...
ENST00000700272.1:c.*813_*899del ENSP00000514907.1:n.*813_*899del
ENST00000700273.1:c.857_943del ENSP00000514908.1:p.Ser286_Ser315delinsCy...
ENST00000700302.1:c.869_955del ENSP00000514929.1:p.Ser290_Ser319delinsCy...
ENST00000700303.1:c.*531_*617del ENSP00000514930.1:n.*531_*617del
ENST00000700304.1:c.*813_*899del ENSP00000514931.1:n.*813_*899del
ENST00000700305.1:c.*427_*513del ENSP00000514932.1:n.*427_*513del
ENST00000700306.1:c.869_955del ENSP00000514933.1:p.Ser290_Ser319delinsCy...
ENST00000700307.1:c.770_856del ENSP00000514934.1:p.Ala257_Ser286delinsGl...
ENST00000700308.1:c.*813_*899del ENSP00000514935.1:n.*813_*899del
ENST00000700309.1:c.*958_*1044del ENSP00000514936.1:n.*958_*1044del
ENST00000700310.1:c.758_844del ENSP00000514937.1:p.Ala253_Arg282delinsGl...
ENST00000700311.1:c.869_955del ENSP00000514938.1:p.Ser290_Ser319delinsCy...
ENST00000700312.1:c.620_706del ENSP00000514939.1:p.Ser207_Ser236delinsCy...
ENST00000700313.1:c.857_943del ENSP00000514940.1:p.Ser286_Ser315delinsCy...
ENST00000700314.1:c.*808_*894del ENSP00000514941.1:n.*808_*894del
ENST00000700315.1:c.*427_*513del ENSP00000514942.1:n.*427_*513del
ENST00000700316.1:c.*649_*735del ENSP00000514943.1:n.*649_*735del
ENST00000700317.1:c.869_955del ENSP00000514944.1:p.Ser290_Ser319delinsCy...
ENST00000700318.1:c.*531_*617del ENSP00000514945.1:n.*531_*617del
ENST00000700319.1:c.*309_*395del ENSP00000514946.1:n.*309_*395del
ENST00000700320.1:c.896_982del ENSP00000514947.1:p.Ser299_Ser328delinsCy...
ENST00000700321.1:c.869_955del ENSP00000514948.1:p.Ser290_Ser319delinsCy...
ENST00000700322.1:c.857_943del ENSP00000514949.1:p.Ser286_Ser315delinsCy...
ENST00000700323.1:c.869_955del ENSP00000514950.1:p.Ser290_Ser319delinsCy...
ENST00000700324.1:c.857_943del ENSP00000514951.1:p.Ser286_Ser315delinsCy...
ENST00000700375.1:c.869_955del ENSP00000514966.1:p.Ser290_Ser319delinsCy...
ENST00000700377.1:c.*337_*423del ENSP00000514967.1:n.*337_*423del
ENST00000700378.1:c.869_955del ENSP00000514968.1:p.Ser290_Ser319delinsCy...
ENST00000700379.1:n.1267_1353del
ENST00000700389.1:c.857_943del ENSP00000514970.1:p.Ser286_Ser315delinsCy...
ENST00000700390.1:n.2580_2666del
ENST00000700391.1:n.80_166del
ENST00000700404.1:n.1868_1954del
ENST00000700433.1:n.1120_1206del
ENST00000700434.1:n.1122_1208del
ENST00000700435.1:n.1004_1090del
ENST00000700436.1:c.869_955del ENSP00000514987.1:p.Ser290Ter
ENST00000700437.1:c.620_706del ENSP00000514988.1:p.Ser207_Ser236delinsCy...
ENST00000700467.1:n.1126_1212del
ENST00000700468.1:c.758_844del ENSP00000515001.1:p.Ala253_Ser282delinsGl...
ENST00000700469.1:c.857_943del ENSP00000515002.1:p.Ser286_Ser315delinsCy...
ENST00000324501.10:c.869_955del MANE Select ENSP00000326366.5:p.Ser290_Ser319delinsCy...
ENST00000324501.9:c.869_955del ENSP00000326366.5:p.Ser290_Ser319delinsCy...
ENST00000357710.8:c.857_943del ENSP00000350342.4:p.Ser286_Ser315delinsCy...
ENST00000394164.5:c.857_943del ENSP00000377719.1:p.Ser286_Ser315delinsCy...
ENST00000406768.1:c.593_679del ENSP00000385948.1:p.Ser198_Ser227delinsCy...
ENST00000553855.5:c.869_955del ENSP00000452242.1:p.Ser290Ter
ENST00000554995.1:n.421_507del
ENST00000555386.5:c.857_943del ENSP00000450845.1:p.Ser286Ter
ENST00000555867.1:n.234_320del
ENST00000557511.5:c.869_955del ENSP00000451429.1:p.Ser290_Arg319delinsTr...
NM_000021.3:c.869_955del NP_000012.1:p.Ser290_Ser319delinsCys
NM_007318.2:c.857_943del NP_015557.2:p.Ser286_Ser315delinsCys
XM_005267864.1:c.869_955del XP_005267921.1:p.Ser290_Ser319delinsCys
XM_005267866.1:c.857_943del XP_005267923.1:p.Ser286_Ser315delinsCys
XM_011536971.1:c.869_955del XP_011535273.1:p.Ser290_Ser319delinsCys
XM_011536972.1:c.869_955del XP_011535274.1:p.Ser290_Ser319delinsCys
XM_011536973.1:c.857_943del XP_011535275.1:p.Ser286_Ser315delinsCys
XM_011536974.1:c.857_943del XP_011535276.1:p.Ser286_Ser315delinsCys
XM_005267864.3:c.869_955del XP_005267921.1:p.Ser290_Ser319delinsCys
XM_005267866.2:c.857_943del XP_005267923.1:p.Ser286_Ser315delinsCys
XM_011536972.2:c.869_955del XP_011535274.1:p.Ser290_Ser319delinsCys
XM_011536973.2:c.857_943del XP_011535275.1:p.Ser286_Ser315delinsCys
XM_011536974.2:c.857_943del XP_011535276.1:p.Ser286_Ser315delinsCys
NM_000021.4:c.869_955del MANE Select NP_000012.1:p.Ser290_Ser319delinsCys
NM_007318.3:c.857_943del NP_015557.2:p.Ser286_Ser315delinsCys