Canonical Allele Identifier: CA2146485631

Gene: PSEN1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73219185_73219186delinsGC , CM000676.2:g.73219185_73219186delinsGC	GRCh38
NC_000014.8:g.73685893_73685894delinsGC , CM000676.1:g.73685893_73685894delinsGC	GRCh37
NC_000014.7:g.72755646_72755647delinsGC	NCBI36
NG_007386.2:g.87715_87716delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553599.6:c.1288_1289delinsGC	ENSP00000452477.2:p.Ala430=
ENST00000554131.6:c.1300_1301delinsGC	ENSP00000451915.2:p.Ala434=
ENST00000554995.2:n.2050_2051delinsGC
ENST00000555386.6:c.*255_*256delinsGC	ENSP00000450845.1:n.*255_*256delinsGC
ENST00000556066.2:n.1726_1727delinsGC
ENST00000556951.6:c.1288_1289delinsGC	ENSP00000450551.2:p.Ala430=
ENST00000557293.6:c.1180_1181delinsGC	ENSP00000451880.2:p.Ala394=
ENST00000559361.6:c.*1244_*1245delinsGC	ENSP00000454156.1:n.*1244_*1245delinsGC
ENST00000697912.1:c.*488_*489delinsGC	ENSP00000513477.1:n.*488_*489delinsGC
ENST00000697913.1:n.6850_6851delinsGC
ENST00000697915.1:n.657_658delinsGC
ENST00000700265.1:c.1288_1289delinsGC	ENSP00000514901.1:p.Ala430=
ENST00000700266.1:c.*1512_*1513delinsGC	ENSP00000514902.1:n.*1512_*1513delinsGC
ENST00000700267.1:c.1300_1301delinsGC	ENSP00000514903.1:p.Ala434=
ENST00000700268.1:c.1300_1301delinsGC	ENSP00000514904.1:p.Ala434=
ENST00000700269.1:c.1300_1301delinsGC	ENSP00000514905.1:p.Ala434=
ENST00000700271.1:c.1114_1115delinsGC	ENSP00000514906.1:p.Ala372=
ENST00000700272.1:c.*1244_*1245delinsGC	ENSP00000514907.1:n.*1244_*1245delinsGC
ENST00000700273.1:c.1288_1289delinsGC	ENSP00000514908.1:p.Ala430=
ENST00000700302.1:c.*116_*117delinsGC	ENSP00000514929.1:n.*116_*117delinsGC
ENST00000700303.1:c.*962_*963delinsGC	ENSP00000514930.1:n.*962_*963delinsGC
ENST00000700304.1:c.*1244_*1245delinsGC	ENSP00000514931.1:n.*1244_*1245delinsGC
ENST00000700305.1:c.*858_*859delinsGC	ENSP00000514932.1:n.*858_*859delinsGC
ENST00000700306.1:c.1300_1301delinsGC	ENSP00000514933.1:p.Ala434=
ENST00000700307.1:c.1201_1202delinsGC	ENSP00000514934.1:p.Ala401=
ENST00000700308.1:c.*1244_*1245delinsGC	ENSP00000514935.1:n.*1244_*1245delinsGC
ENST00000700309.1:c.*1389_*1390delinsGC	ENSP00000514936.1:n.*1389_*1390delinsGC
ENST00000700310.1:c.*255_*256delinsGC	ENSP00000514937.1:n.*255_*256delinsGC
ENST00000700311.1:c.*116_*117delinsGC	ENSP00000514938.1:n.*116_*117delinsGC
ENST00000700312.1:c.1051_1052delinsGC	ENSP00000514939.1:p.Ala351=
ENST00000700313.1:c.1288_1289delinsGC	ENSP00000514940.1:p.Ala430=
ENST00000700314.1:c.*1239_*1240delinsGC	ENSP00000514941.1:n.*1239_*1240delinsGC
ENST00000700315.1:c.*858_*859delinsGC	ENSP00000514942.1:n.*858_*859delinsGC
ENST00000700316.1:c.*1080_*1081delinsGC	ENSP00000514943.1:n.*1080_*1081delinsGC
ENST00000700317.1:c.1300_1301delinsGC	ENSP00000514944.1:p.Ala434=
ENST00000700318.1:c.*962_*963delinsGC	ENSP00000514945.1:n.*962_*963delinsGC
ENST00000700319.1:c.*740_*741delinsGC	ENSP00000514946.1:n.*740_*741delinsGC
ENST00000700320.1:c.1327_1328delinsGC	ENSP00000514947.1:p.Ala443=
ENST00000700321.1:c.1300_1301delinsGC	ENSP00000514948.1:p.Ala434=
ENST00000700322.1:c.1288_1289delinsGC	ENSP00000514949.1:p.Ala430=
ENST00000700323.1:c.1300_1301delinsGC	ENSP00000514950.1:p.Ala434=
ENST00000700324.1:c.1288_1289delinsGC	ENSP00000514951.1:p.Ala430=
ENST00000700375.1:c.1300_1301delinsGC	ENSP00000514966.1:p.Ala434=
ENST00000700377.1:c.*768_*769delinsGC	ENSP00000514967.1:n.*768_*769delinsGC
ENST00000700378.1:c.1300_1301delinsGC	ENSP00000514968.1:p.Ala434=
ENST00000700379.1:n.1698_1699delinsGC
ENST00000700389.1:c.1288_1289delinsGC	ENSP00000514970.1:p.Ala430=
ENST00000700390.1:n.3011_3012delinsGC
ENST00000700391.1:n.511_512delinsGC
ENST00000700404.1:n.2299_2300delinsGC
ENST00000700436.1:c.*255_*256delinsGC	ENSP00000514987.1:n.*255_*256delinsGC
ENST00000700437.1:c.1051_1052delinsGC	ENSP00000514988.1:p.Ala351=
ENST00000700468.1:c.1189_1190delinsGC	ENSP00000515001.1:p.Ala397=
ENST00000700469.1:c.1288_1289delinsGC	ENSP00000515002.1:p.Ala430=
ENST00000324501.10:c.1300_1301delinsGC MANE Select	ENSP00000326366.5:p.Ala434=
ENST00000324501.9:c.1300_1301delinsGC	ENSP00000326366.5:p.Ala434=
ENST00000357710.8:c.1288_1289delinsGC	ENSP00000350342.4:p.Ala430=
ENST00000394164.5:c.1288_1289delinsGC	ENSP00000377719.1:p.Ala430=
ENST00000406768.1:c.1024_1025delinsGC	ENSP00000385948.1:p.Ala342=
ENST00000555386.5:c.1380_1381delinsGC	ENSP00000450845.1:n.1380_1381delinsGC
ENST00000555867.1:n.665_666delinsGC
ENST00000557511.5:c.1126_1127delinsGC	ENSP00000451429.1:p.Ala376=
NM_000021.3:c.1300_1301delinsGC	NP_000012.1:p.Ala434=
NM_007318.2:c.1288_1289delinsGC	NP_015557.2:p.Ala430=
XM_005267864.1:c.1300_1301delinsGC	XP_005267921.1:p.Ala434=
XM_005267866.1:c.1288_1289delinsGC	XP_005267923.1:p.Ala430=
XM_011536971.1:c.1300_1301delinsGC	XP_011535273.1:p.Ala434=
XM_011536972.1:c.1300_1301delinsGC	XP_011535274.1:p.Ala434=
XM_011536973.1:c.1288_1289delinsGC	XP_011535275.1:p.Ala430=
XM_011536974.1:c.1288_1289delinsGC	XP_011535276.1:p.Ala430=
XM_005267864.3:c.1300_1301delinsGC	XP_005267921.1:p.Ala434=
XM_005267866.2:c.1288_1289delinsGC	XP_005267923.1:p.Ala430=
XM_011536972.2:c.1300_1301delinsGC	XP_011535274.1:p.Ala434=
XM_011536973.2:c.1288_1289delinsGC	XP_011535275.1:p.Ala430=
XM_011536974.2:c.1288_1289delinsGC	XP_011535276.1:p.Ala430=
NM_000021.4:c.1300_1301delinsGC MANE Select	NP_000012.1:p.Ala434=
NM_007318.3:c.1288_1289delinsGC	NP_015557.2:p.Ala430=