Canonical Allele Identifier: CA2625562550

Gene: PSEN1

Linked Data

• gnomAD v4: 14-73223201-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73223207dup , CM000676.2:g.73223207dup	GRCh38
NC_000014.8:g.73689915dup , CM000676.1:g.73689915dup	GRCh37
NC_000014.7:g.72759668dup	NCBI36
NG_007386.2:g.91737dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553599.6:c.*3918dup	ENSP00000452477.2:n.*3918dup
ENST00000554131.6:c.*3918dup	ENSP00000451915.2:n.*3918dup
ENST00000554995.2:n.6072dup
ENST00000556066.2:n.5748dup
ENST00000556951.6:c.*3918dup	ENSP00000450551.2:n.*3918dup
ENST00000557293.6:c.*3918dup	ENSP00000451880.2:n.*3918dup
ENST00000559361.6:c.*5266dup	ENSP00000454156.1:n.*5266dup
ENST00000697912.1:c.*4510dup	ENSP00000513477.1:n.*4510dup
ENST00000697913.1:n.10872dup
ENST00000697915.1:n.4679dup
ENST00000700265.1:c.*3918dup	ENSP00000514901.1:n.*3918dup
ENST00000700266.1:c.*5534dup	ENSP00000514902.1:n.*5534dup
ENST00000700267.1:c.*3918dup	ENSP00000514903.1:n.*3918dup
ENST00000700268.1:c.*3918dup	ENSP00000514904.1:n.*3918dup
ENST00000700269.1:c.*3918dup	ENSP00000514905.1:n.*3918dup
ENST00000700271.1:c.*3918dup	ENSP00000514906.1:n.*3918dup
ENST00000700272.1:c.*5266dup	ENSP00000514907.1:n.*5266dup
ENST00000700273.1:c.*3918dup	ENSP00000514908.1:n.*3918dup
ENST00000700302.1:c.*4138dup	ENSP00000514929.1:n.*4138dup
ENST00000700303.1:c.*4984dup	ENSP00000514930.1:n.*4984dup
ENST00000700304.1:c.*5266dup	ENSP00000514931.1:n.*5266dup
ENST00000700305.1:c.*4880dup	ENSP00000514932.1:n.*4880dup
ENST00000700306.1:c.*3918dup	ENSP00000514933.1:n.*3918dup
ENST00000700307.1:c.*3918dup	ENSP00000514934.1:n.*3918dup
ENST00000700308.1:c.*5266dup	ENSP00000514935.1:n.*5266dup
ENST00000700309.1:c.*5411dup	ENSP00000514936.1:n.*5411dup
ENST00000700310.1:c.*4277dup	ENSP00000514937.1:n.*4277dup
ENST00000700311.1:c.*4138dup	ENSP00000514938.1:n.*4138dup
ENST00000700312.1:c.*3918dup	ENSP00000514939.1:n.*3918dup
ENST00000700313.1:c.*3918dup	ENSP00000514940.1:n.*3918dup
ENST00000700314.1:c.*5261dup	ENSP00000514941.1:n.*5261dup
ENST00000700315.1:c.*4880dup	ENSP00000514942.1:n.*4880dup
ENST00000700316.1:c.*5102dup	ENSP00000514943.1:n.*5102dup
ENST00000700317.1:c.*3918dup	ENSP00000514944.1:n.*3918dup
ENST00000700318.1:c.*4984dup	ENSP00000514945.1:n.*4984dup
ENST00000700319.1:c.*4762dup	ENSP00000514946.1:n.*4762dup
ENST00000700320.1:c.*3918dup	ENSP00000514947.1:n.*3918dup
ENST00000700321.1:c.*3918dup	ENSP00000514948.1:n.*3918dup
ENST00000700322.1:c.*3918dup	ENSP00000514949.1:n.*3918dup
ENST00000700323.1:c.*3918dup	ENSP00000514950.1:n.*3918dup
ENST00000700324.1:c.*3918dup	ENSP00000514951.1:n.*3918dup
ENST00000700375.1:c.*3918dup	ENSP00000514966.1:n.*3918dup
ENST00000700377.1:c.*4790dup	ENSP00000514967.1:n.*4790dup
ENST00000700378.1:c.*3918dup	ENSP00000514968.1:n.*3918dup
ENST00000700379.1:n.5720dup
ENST00000700390.1:n.7033dup
ENST00000700404.1:n.6321dup
ENST00000700436.1:c.*4277dup	ENSP00000514987.1:n.*4277dup
ENST00000700437.1:c.*3918dup	ENSP00000514988.1:n.*3918dup
ENST00000700468.1:c.*3918dup	ENSP00000515001.1:n.*3918dup
ENST00000700469.1:c.*3918dup	ENSP00000515002.1:n.*3918dup
ENST00000324501.10:c.*3918dup MANE Select	ENSP00000326366.5:n.*3918dup
ENST00000324501.9:c.*3918dup	ENSP00000326366.5:n.*3918dup
NM_000021.3:c.*3918dup	NP_000012.1:n.*3918dup
NM_007318.2:c.*3918dup	NP_015557.2:n.*3918dup
XM_005267864.1:c.*3918dup	XP_005267921.1:n.*3918dup
XM_005267866.1:c.*3918dup	XP_005267923.1:n.*3918dup
XM_011536971.1:c.*3918dup	XP_011535273.1:n.*3918dup
XM_011536972.1:c.*3918dup	XP_011535274.1:n.*3918dup
XM_011536973.1:c.*3918dup	XP_011535275.1:n.*3918dup
XM_011536974.1:c.*3918dup	XP_011535276.1:n.*3918dup
NM_000021.4:c.*3918dup MANE Select	NP_000012.1:n.*3918dup
NM_007318.3:c.*3918dup	NP_015557.2:n.*3918dup