Canonical Allele Identifier: CA2146470696

Gene: PSEN1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73186867_73186870delinsGCTT , CM000676.2:g.73186867_73186870delinsGCTT	GRCh38
NC_000014.8:g.73653575_73653578delinsGCTT , CM000676.1:g.73653575_73653578delinsGCTT	GRCh37
NC_000014.7:g.72723328_72723331delinsGCTT	NCBI36
NG_007386.2:g.55397_55400delinsGCTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000553599.6:c.483_486delinsGCTT	ENSP00000452477.2:p.Trp161=
ENST00000554131.6:c.495_498delinsGCTT	ENSP00000451915.2:p.Trp165=
ENST00000555386.6:c.483_486delinsGCTT	ENSP00000450845.1:p.Trp161=
ENST00000556066.2:n.921_924delinsGCTT
ENST00000556951.6:c.483_486delinsGCTT	ENSP00000450551.2:p.Trp161=
ENST00000557293.6:c.495_498delinsGCTT	ENSP00000451880.2:p.Trp165=
ENST00000559361.6:c.*439_*442delinsGCTT	ENSP00000454156.1:n.*439_*442delinsGCTT
ENST00000697912.1:c.483_486delinsGCTT	ENSP00000513477.1:p.Trp161=
ENST00000697913.1:n.749_752delinsGCTT
ENST00000700265.1:c.483_486delinsGCTT	ENSP00000514901.1:p.Trp161=
ENST00000700266.1:c.*707_*710delinsGCTT	ENSP00000514902.1:n.*707_*710delinsGCTT
ENST00000700267.1:c.495_498delinsGCTT	ENSP00000514903.1:p.Trp165=
ENST00000700268.1:c.495_498delinsGCTT	ENSP00000514904.1:p.Trp165=
ENST00000700269.1:c.495_498delinsGCTT	ENSP00000514905.1:p.Trp165=
ENST00000700270.1:n.751_754delinsGCTT
ENST00000700271.1:c.483_486delinsGCTT	ENSP00000514906.1:p.Trp161=
ENST00000700272.1:c.*439_*442delinsGCTT	ENSP00000514907.1:n.*439_*442delinsGCTT
ENST00000700273.1:c.483_486delinsGCTT	ENSP00000514908.1:p.Trp161=
ENST00000700302.1:c.495_498delinsGCTT	ENSP00000514929.1:p.Trp165=
ENST00000700303.1:c.*157_*160delinsGCTT	ENSP00000514930.1:n.*157_*160delinsGCTT
ENST00000700304.1:c.*439_*442delinsGCTT	ENSP00000514931.1:n.*439_*442delinsGCTT
ENST00000700305.1:c.*53_*56delinsGCTT	ENSP00000514932.1:n.*53_*56delinsGCTT
ENST00000700306.1:c.495_498delinsGCTT	ENSP00000514933.1:p.Trp165=
ENST00000700307.1:c.495_498delinsGCTT	ENSP00000514934.1:p.Trp165=
ENST00000700308.1:c.*439_*442delinsGCTT	ENSP00000514935.1:n.*439_*442delinsGCTT
ENST00000700309.1:c.*584_*587delinsGCTT	ENSP00000514936.1:n.*584_*587delinsGCTT
ENST00000700310.1:c.483_486delinsGCTT	ENSP00000514937.1:p.Trp161=
ENST00000700311.1:c.495_498delinsGCTT	ENSP00000514938.1:p.Trp165=
ENST00000700312.1:c.246_249delinsGCTT	ENSP00000514939.1:p.Trp82=
ENST00000700313.1:c.483_486delinsGCTT	ENSP00000514940.1:p.Trp161=
ENST00000700314.1:c.*434_*437delinsGCTT	ENSP00000514941.1:n.*434_*437delinsGCTT
ENST00000700315.1:c.*53_*56delinsGCTT	ENSP00000514942.1:n.*53_*56delinsGCTT
ENST00000700316.1:c.*275_*278delinsGCTT	ENSP00000514943.1:n.*275_*278delinsGCTT
ENST00000700317.1:c.495_498delinsGCTT	ENSP00000514944.1:p.Trp165=
ENST00000700318.1:c.*157_*160delinsGCTT	ENSP00000514945.1:n.*157_*160delinsGCTT
ENST00000700319.1:c.481-5777_481-5774delinsGCTT	ENSP00000514946.1:n.481-5777_481-5774deli...
ENST00000700320.1:c.495_498delinsGCTT	ENSP00000514947.1:p.Trp165=
ENST00000700321.1:c.495_498delinsGCTT	ENSP00000514948.1:p.Trp165=
ENST00000700322.1:c.483_486delinsGCTT	ENSP00000514949.1:p.Trp161=
ENST00000700323.1:c.495_498delinsGCTT	ENSP00000514950.1:p.Trp165=
ENST00000700324.1:c.483_486delinsGCTT	ENSP00000514951.1:p.Trp161=
ENST00000700375.1:c.495_498delinsGCTT	ENSP00000514966.1:p.Trp165=
ENST00000700376.1:n.1079_1082delinsGCTT
ENST00000700377.1:c.495_498delinsGCTT	ENSP00000514967.1:p.Trp165=
ENST00000700378.1:c.495_498delinsGCTT	ENSP00000514968.1:p.Trp165=
ENST00000700379.1:n.893_896delinsGCTT
ENST00000700388.1:n.742_745delinsGCTT
ENST00000700389.1:c.483_486delinsGCTT	ENSP00000514970.1:p.Trp161=
ENST00000700390.1:n.2206_2209delinsGCTT
ENST00000700404.1:n.1378_1381delinsGCTT
ENST00000700432.1:n.852_855delinsGCTT
ENST00000700433.1:n.630_633delinsGCTT
ENST00000700434.1:n.748_751delinsGCTT
ENST00000700435.1:n.630_633delinsGCTT
ENST00000700436.1:c.495_498delinsGCTT	ENSP00000514987.1:p.Trp165=
ENST00000700437.1:c.246_249delinsGCTT	ENSP00000514988.1:p.Trp82=
ENST00000700467.1:n.752_755delinsGCTT
ENST00000700468.1:c.483_486delinsGCTT	ENSP00000515001.1:p.Trp161=
ENST00000700469.1:c.483_486delinsGCTT	ENSP00000515002.1:p.Trp161=
ENST00000324501.10:c.495_498delinsGCTT MANE Select	ENSP00000326366.5:p.Trp165=
ENST00000324501.9:c.495_498delinsGCTT	ENSP00000326366.5:p.Trp165=
ENST00000357710.8:c.483_486delinsGCTT	ENSP00000350342.4:p.Trp161=
ENST00000394164.5:c.483_486delinsGCTT	ENSP00000377719.1:p.Trp161=
ENST00000406768.1:c.219_222delinsGCTT	ENSP00000385948.1:p.Trp73=
ENST00000553855.5:c.495_498delinsGCTT	ENSP00000452242.1:p.Trp165=
ENST00000555386.5:c.483_486delinsGCTT	ENSP00000450845.1:p.Trp161=
ENST00000557511.5:c.495_498delinsGCTT	ENSP00000451429.1:p.Trp165=
NM_000021.3:c.495_498delinsGCTT	NP_000012.1:p.Trp165=
NM_007318.2:c.483_486delinsGCTT	NP_015557.2:p.Trp161=
XM_005267864.1:c.495_498delinsGCTT	XP_005267921.1:p.Trp165=
XM_005267866.1:c.483_486delinsGCTT	XP_005267923.1:p.Trp161=
XM_011536971.1:c.495_498delinsGCTT	XP_011535273.1:p.Trp165=
XM_011536972.1:c.495_498delinsGCTT	XP_011535274.1:p.Trp165=
XM_011536973.1:c.483_486delinsGCTT	XP_011535275.1:p.Trp161=
XM_011536974.1:c.483_486delinsGCTT	XP_011535276.1:p.Trp161=
XM_005267864.3:c.495_498delinsGCTT	XP_005267921.1:p.Trp165=
XM_005267866.2:c.483_486delinsGCTT	XP_005267923.1:p.Trp161=
XM_011536972.2:c.495_498delinsGCTT	XP_011535274.1:p.Trp165=
XM_011536973.2:c.483_486delinsGCTT	XP_011535275.1:p.Trp161=
XM_011536974.2:c.483_486delinsGCTT	XP_011535276.1:p.Trp161=
NM_000021.4:c.495_498delinsGCTT MANE Select	NP_000012.1:p.Trp165=
NM_007318.3:c.483_486delinsGCTT	NP_015557.2:p.Trp161=