Canonical Allele Identifier: CA614991948

Gene: PSEN1

Linked Data

• dbSNP Id: rs1337685999
• gnomAD v2: 14-73653634-T-TG
• MyVariant Identifiers: chr14:g.73653634_73653635insG (hg19) ; chr14:g.73186926_73186927insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73186926_73186927insG , CM000676.2:g.73186926_73186927insG	GRCh38
NC_000014.8:g.73653634_73653635insG , CM000676.1:g.73653634_73653635insG	GRCh37
NC_000014.7:g.72723387_72723388insG	NCBI36
NG_007386.2:g.55456_55457insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553599.6:c.536+6_536+7insG	ENSP00000452477.2:n.536+6_536+7insG
ENST00000554131.6:c.548+6_548+7insG	ENSP00000451915.2:n.548+6_548+7insG
ENST00000555386.6:c.536+6_536+7insG	ENSP00000450845.1:n.536+6_536+7insG
ENST00000556066.2:n.974+6_974+7insG
ENST00000556951.6:c.536+6_536+7insG	ENSP00000450551.2:n.536+6_536+7insG
ENST00000557293.6:c.548+6_548+7insG	ENSP00000451880.2:n.548+6_548+7insG
ENST00000559361.6:c.*492+6_*492+7insG	ENSP00000454156.1:n.*492+6_*492+7insG
ENST00000697912.1:c.536+6_536+7insG	ENSP00000513477.1:n.536+6_536+7insG
ENST00000697913.1:n.802+6_802+7insG
ENST00000700265.1:c.536+6_536+7insG	ENSP00000514901.1:n.536+6_536+7insG
ENST00000700266.1:c.*760+6_*760+7insG	ENSP00000514902.1:n.*760+6_*760+7insG
ENST00000700267.1:c.548+6_548+7insG	ENSP00000514903.1:n.548+6_548+7insG
ENST00000700268.1:c.548+6_548+7insG	ENSP00000514904.1:n.548+6_548+7insG
ENST00000700269.1:c.548+6_548+7insG	ENSP00000514905.1:n.548+6_548+7insG
ENST00000700270.1:n.804+6_804+7insG
ENST00000700271.1:c.536+6_536+7insG	ENSP00000514906.1:n.536+6_536+7insG
ENST00000700272.1:c.*492+6_*492+7insG	ENSP00000514907.1:n.*492+6_*492+7insG
ENST00000700273.1:c.536+6_536+7insG	ENSP00000514908.1:n.536+6_536+7insG
ENST00000700302.1:c.548+6_548+7insG	ENSP00000514929.1:n.548+6_548+7insG
ENST00000700303.1:c.*210+6_*210+7insG	ENSP00000514930.1:n.*210+6_*210+7insG
ENST00000700304.1:c.*492+6_*492+7insG	ENSP00000514931.1:n.*492+6_*492+7insG
ENST00000700305.1:c.*106+6_*106+7insG	ENSP00000514932.1:n.*106+6_*106+7insG
ENST00000700306.1:c.548+6_548+7insG	ENSP00000514933.1:n.548+6_548+7insG
ENST00000700307.1:c.548+6_548+7insG	ENSP00000514934.1:n.548+6_548+7insG
ENST00000700308.1:c.*492+6_*492+7insG	ENSP00000514935.1:n.*492+6_*492+7insG
ENST00000700309.1:c.*637+6_*637+7insG	ENSP00000514936.1:n.*637+6_*637+7insG
ENST00000700310.1:c.536+6_536+7insG	ENSP00000514937.1:n.536+6_536+7insG
ENST00000700311.1:c.548+6_548+7insG	ENSP00000514938.1:n.548+6_548+7insG
ENST00000700312.1:c.299+6_299+7insG	ENSP00000514939.1:n.299+6_299+7insG
ENST00000700313.1:c.536+6_536+7insG	ENSP00000514940.1:n.536+6_536+7insG
ENST00000700314.1:c.*487+6_*487+7insG	ENSP00000514941.1:n.*487+6_*487+7insG
ENST00000700315.1:c.*106+6_*106+7insG	ENSP00000514942.1:n.*106+6_*106+7insG
ENST00000700316.1:c.*328+6_*328+7insG	ENSP00000514943.1:n.*328+6_*328+7insG
ENST00000700317.1:c.548+6_548+7insG	ENSP00000514944.1:n.548+6_548+7insG
ENST00000700318.1:c.*210+6_*210+7insG	ENSP00000514945.1:n.*210+6_*210+7insG
ENST00000700319.1:c.481-5718_481-5717insG	ENSP00000514946.1:n.481-5718_481-5717insG
ENST00000700320.1:c.548+6_548+7insG	ENSP00000514947.1:n.548+6_548+7insG
ENST00000700321.1:c.548+6_548+7insG	ENSP00000514948.1:n.548+6_548+7insG
ENST00000700322.1:c.536+6_536+7insG	ENSP00000514949.1:n.536+6_536+7insG
ENST00000700323.1:c.548+6_548+7insG	ENSP00000514950.1:n.548+6_548+7insG
ENST00000700324.1:c.536+6_536+7insG	ENSP00000514951.1:n.536+6_536+7insG
ENST00000700375.1:c.548+6_548+7insG	ENSP00000514966.1:n.548+6_548+7insG
ENST00000700376.1:n.1132+6_1132+7insG
ENST00000700377.1:c.548+6_548+7insG	ENSP00000514967.1:n.548+6_548+7insG
ENST00000700378.1:c.548+6_548+7insG	ENSP00000514968.1:n.548+6_548+7insG
ENST00000700379.1:n.946+6_946+7insG
ENST00000700388.1:n.795+6_795+7insG
ENST00000700389.1:c.536+6_536+7insG	ENSP00000514970.1:n.536+6_536+7insG
ENST00000700390.1:n.2259+6_2259+7insG
ENST00000700404.1:n.1431+6_1431+7insG
ENST00000700432.1:n.905+6_905+7insG
ENST00000700433.1:n.683+6_683+7insG
ENST00000700434.1:n.801+6_801+7insG
ENST00000700435.1:n.683+6_683+7insG
ENST00000700436.1:c.548+6_548+7insG	ENSP00000514987.1:n.548+6_548+7insG
ENST00000700437.1:c.299+6_299+7insG	ENSP00000514988.1:n.299+6_299+7insG
ENST00000700467.1:n.805+6_805+7insG
ENST00000700468.1:c.536+6_536+7insG	ENSP00000515001.1:n.536+6_536+7insG
ENST00000700469.1:c.536+6_536+7insG	ENSP00000515002.1:n.536+6_536+7insG
ENST00000324501.10:c.548+6_548+7insG MANE Select	ENSP00000326366.5:n.548+6_548+7insG
ENST00000324501.9:c.548+6_548+7insG	ENSP00000326366.5:n.548+6_548+7insG
ENST00000357710.8:c.536+6_536+7insG	ENSP00000350342.4:n.536+6_536+7insG
ENST00000394164.5:c.536+6_536+7insG	ENSP00000377719.1:n.536+6_536+7insG
ENST00000406768.1:c.272+6_272+7insG	ENSP00000385948.1:n.272+6_272+7insG
ENST00000553855.5:c.548+6_548+7insG	ENSP00000452242.1:n.548+6_548+7insG
ENST00000555386.5:c.536+6_536+7insG	ENSP00000450845.1:n.536+6_536+7insG
ENST00000557511.5:c.548+6_548+7insG	ENSP00000451429.1:n.548+6_548+7insG
NM_000021.3:c.548+6_548+7insG	NP_000012.1:n.548+6_548+7insG
NM_007318.2:c.536+6_536+7insG	NP_015557.2:n.536+6_536+7insG
XM_005267864.1:c.548+6_548+7insG	XP_005267921.1:n.548+6_548+7insG
XM_005267866.1:c.536+6_536+7insG	XP_005267923.1:n.536+6_536+7insG
XM_011536971.1:c.548+6_548+7insG	XP_011535273.1:n.548+6_548+7insG
XM_011536972.1:c.548+6_548+7insG	XP_011535274.1:n.548+6_548+7insG
XM_011536973.1:c.536+6_536+7insG	XP_011535275.1:n.536+6_536+7insG
XM_011536974.1:c.536+6_536+7insG	XP_011535276.1:n.536+6_536+7insG
XM_005267864.3:c.548+6_548+7insG	XP_005267921.1:n.548+6_548+7insG
XM_005267866.2:c.536+6_536+7insG	XP_005267923.1:n.536+6_536+7insG
XM_011536972.2:c.548+6_548+7insG	XP_011535274.1:n.548+6_548+7insG
XM_011536973.2:c.536+6_536+7insG	XP_011535275.1:n.536+6_536+7insG
XM_011536974.2:c.536+6_536+7insG	XP_011535276.1:n.536+6_536+7insG
NM_000021.4:c.548+6_548+7insG MANE Select	NP_000012.1:n.548+6_548+7insG
NM_007318.3:c.536+6_536+7insG	NP_015557.2:n.536+6_536+7insG