Canonical Allele Identifier: CA2625583312

Gene: PSEN1

Linked Data

• gnomAD v4: 14-73186925-GTTGTGAAATTTTTGGTCTGTCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73186928_73186949del , CM000676.2:g.73186928_73186949del	GRCh38
NC_000014.8:g.73653636_73653657del , CM000676.1:g.73653636_73653657del	GRCh37
NC_000014.7:g.72723389_72723410del	NCBI36
NG_007386.2:g.55458_55479del

Transcript Alleles

HGVS	Amino-acid change
ENST00000553599.6:c.536+8_536+29del	ENSP00000452477.2:n.536+8_536+29del
ENST00000554131.6:c.548+8_548+29del	ENSP00000451915.2:n.548+8_548+29del
ENST00000555386.6:c.536+8_536+29del	ENSP00000450845.1:n.536+8_536+29del
ENST00000556066.2:n.974+8_974+29del
ENST00000556951.6:c.536+8_536+29del	ENSP00000450551.2:n.536+8_536+29del
ENST00000557293.6:c.548+8_548+29del	ENSP00000451880.2:n.548+8_548+29del
ENST00000559361.6:c.*492+8_*492+29del	ENSP00000454156.1:n.*492+8_*492+29del
ENST00000697912.1:c.536+8_536+29del	ENSP00000513477.1:n.536+8_536+29del
ENST00000697913.1:n.802+8_802+29del
ENST00000700265.1:c.536+8_536+29del	ENSP00000514901.1:n.536+8_536+29del
ENST00000700266.1:c.*760+8_*760+29del	ENSP00000514902.1:n.*760+8_*760+29del
ENST00000700267.1:c.548+8_548+29del	ENSP00000514903.1:n.548+8_548+29del
ENST00000700268.1:c.548+8_548+29del	ENSP00000514904.1:n.548+8_548+29del
ENST00000700269.1:c.548+8_548+29del	ENSP00000514905.1:n.548+8_548+29del
ENST00000700270.1:n.804+8_804+29del
ENST00000700271.1:c.536+8_536+29del	ENSP00000514906.1:n.536+8_536+29del
ENST00000700272.1:c.*492+8_*492+29del	ENSP00000514907.1:n.*492+8_*492+29del
ENST00000700273.1:c.536+8_536+29del	ENSP00000514908.1:n.536+8_536+29del
ENST00000700302.1:c.548+8_548+29del	ENSP00000514929.1:n.548+8_548+29del
ENST00000700303.1:c.*210+8_*210+29del	ENSP00000514930.1:n.*210+8_*210+29del
ENST00000700304.1:c.*492+8_*492+29del	ENSP00000514931.1:n.*492+8_*492+29del
ENST00000700305.1:c.*106+8_*106+29del	ENSP00000514932.1:n.*106+8_*106+29del
ENST00000700306.1:c.548+8_548+29del	ENSP00000514933.1:n.548+8_548+29del
ENST00000700307.1:c.548+8_548+29del	ENSP00000514934.1:n.548+8_548+29del
ENST00000700308.1:c.*492+8_*492+29del	ENSP00000514935.1:n.*492+8_*492+29del
ENST00000700309.1:c.*637+8_*637+29del	ENSP00000514936.1:n.*637+8_*637+29del
ENST00000700310.1:c.536+8_536+29del	ENSP00000514937.1:n.536+8_536+29del
ENST00000700311.1:c.548+8_548+29del	ENSP00000514938.1:n.548+8_548+29del
ENST00000700312.1:c.299+8_299+29del	ENSP00000514939.1:n.299+8_299+29del
ENST00000700313.1:c.536+8_536+29del	ENSP00000514940.1:n.536+8_536+29del
ENST00000700314.1:c.*487+8_*487+29del	ENSP00000514941.1:n.*487+8_*487+29del
ENST00000700315.1:c.*106+8_*106+29del	ENSP00000514942.1:n.*106+8_*106+29del
ENST00000700316.1:c.*328+8_*328+29del	ENSP00000514943.1:n.*328+8_*328+29del
ENST00000700317.1:c.548+8_548+29del	ENSP00000514944.1:n.548+8_548+29del
ENST00000700318.1:c.*210+8_*210+29del	ENSP00000514945.1:n.*210+8_*210+29del
ENST00000700319.1:c.481-5716_481-5695del	ENSP00000514946.1:n.481-5716_481-5695del
ENST00000700320.1:c.548+8_548+29del	ENSP00000514947.1:n.548+8_548+29del
ENST00000700321.1:c.548+8_548+29del	ENSP00000514948.1:n.548+8_548+29del
ENST00000700322.1:c.536+8_536+29del	ENSP00000514949.1:n.536+8_536+29del
ENST00000700323.1:c.548+8_548+29del	ENSP00000514950.1:n.548+8_548+29del
ENST00000700324.1:c.536+8_536+29del	ENSP00000514951.1:n.536+8_536+29del
ENST00000700375.1:c.548+8_548+29del	ENSP00000514966.1:n.548+8_548+29del
ENST00000700376.1:n.1132+8_1132+29del
ENST00000700377.1:c.548+8_548+29del	ENSP00000514967.1:n.548+8_548+29del
ENST00000700378.1:c.548+8_548+29del	ENSP00000514968.1:n.548+8_548+29del
ENST00000700379.1:n.946+8_946+29del
ENST00000700388.1:n.795+8_795+29del
ENST00000700389.1:c.536+8_536+29del	ENSP00000514970.1:n.536+8_536+29del
ENST00000700390.1:n.2259+8_2259+29del
ENST00000700404.1:n.1431+8_1431+29del
ENST00000700432.1:n.905+8_905+29del
ENST00000700433.1:n.683+8_683+29del
ENST00000700434.1:n.801+8_801+29del
ENST00000700435.1:n.683+8_683+29del
ENST00000700436.1:c.548+8_548+29del	ENSP00000514987.1:n.548+8_548+29del
ENST00000700437.1:c.299+8_299+29del	ENSP00000514988.1:n.299+8_299+29del
ENST00000700467.1:n.805+8_805+29del
ENST00000700468.1:c.536+8_536+29del	ENSP00000515001.1:n.536+8_536+29del
ENST00000700469.1:c.536+8_536+29del	ENSP00000515002.1:n.536+8_536+29del
ENST00000324501.10:c.548+8_548+29del MANE Select	ENSP00000326366.5:n.548+8_548+29del
ENST00000324501.9:c.548+8_548+29del	ENSP00000326366.5:n.548+8_548+29del
ENST00000357710.8:c.536+8_536+29del	ENSP00000350342.4:n.536+8_536+29del
ENST00000394164.5:c.536+8_536+29del	ENSP00000377719.1:n.536+8_536+29del
ENST00000406768.1:c.272+8_272+29del	ENSP00000385948.1:n.272+8_272+29del
ENST00000553855.5:c.548+8_548+29del	ENSP00000452242.1:n.548+8_548+29del
ENST00000555386.5:c.536+8_536+29del	ENSP00000450845.1:n.536+8_536+29del
ENST00000557511.5:c.548+8_548+29del	ENSP00000451429.1:n.548+8_548+29del
NM_000021.3:c.548+8_548+29del	NP_000012.1:n.548+8_548+29del
NM_007318.2:c.536+8_536+29del	NP_015557.2:n.536+8_536+29del
XM_005267864.1:c.548+8_548+29del	XP_005267921.1:n.548+8_548+29del
XM_005267866.1:c.536+8_536+29del	XP_005267923.1:n.536+8_536+29del
XM_011536971.1:c.548+8_548+29del	XP_011535273.1:n.548+8_548+29del
XM_011536972.1:c.548+8_548+29del	XP_011535274.1:n.548+8_548+29del
XM_011536973.1:c.536+8_536+29del	XP_011535275.1:n.536+8_536+29del
XM_011536974.1:c.536+8_536+29del	XP_011535276.1:n.536+8_536+29del
XM_005267864.3:c.548+8_548+29del	XP_005267921.1:n.548+8_548+29del
XM_005267866.2:c.536+8_536+29del	XP_005267923.1:n.536+8_536+29del
XM_011536972.2:c.548+8_548+29del	XP_011535274.1:n.548+8_548+29del
XM_011536973.2:c.536+8_536+29del	XP_011535275.1:n.536+8_536+29del
XM_011536974.2:c.536+8_536+29del	XP_011535276.1:n.536+8_536+29del
NM_000021.4:c.548+8_548+29del MANE Select	NP_000012.1:n.548+8_548+29del
NM_007318.3:c.536+8_536+29del	NP_015557.2:n.536+8_536+29del