Canonical Allele Identifier: CA2146494795

Gene: PSEN1

Linked Data

• dbSNP Id: rs1899676256

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73211463_73211465dup , CM000676.2:g.73211463_73211465dup	GRCh38
NC_000014.8:g.73678171_73678173dup , CM000676.1:g.73678171_73678173dup	GRCh37
NC_000014.7:g.72747924_72747926dup	NCBI36
NG_007386.2:g.79993_79995dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553599.6:c.944-306_944-304dup	ENSP00000452477.2:n.944-306_944-304dup
ENST00000554131.6:c.956-306_956-304dup	ENSP00000451915.2:n.956-306_956-304dup
ENST00000554995.2:n.1706-306_1706-304dup
ENST00000555386.6:c.1036-306_1036-304dup	ENSP00000450845.1:n.1036-306_1036-304dup
ENST00000556066.2:n.1382-306_1382-304dup
ENST00000556951.6:c.944-306_944-304dup	ENSP00000450551.2:n.944-306_944-304dup
ENST00000557293.6:c.836-306_836-304dup	ENSP00000451880.2:n.836-306_836-304dup
ENST00000559361.6:c.*900-306_*900-304dup	ENSP00000454156.1:n.*900-306_*900-304dup
ENST00000697912.1:c.944-306_944-304dup	ENSP00000513477.1:n.944-306_944-304dup
ENST00000697913.1:n.6200_6202dup
ENST00000700265.1:c.944-306_944-304dup	ENSP00000514901.1:n.944-306_944-304dup
ENST00000700266.1:c.*1168-306_*1168-304dup	ENSP00000514902.1:n.*1168-306_*1168-304dup
ENST00000700267.1:c.956-306_956-304dup	ENSP00000514903.1:n.956-306_956-304dup
ENST00000700268.1:c.956-306_956-304dup	ENSP00000514904.1:n.956-306_956-304dup
ENST00000700269.1:c.956-306_956-304dup	ENSP00000514905.1:n.956-306_956-304dup
ENST00000700271.1:c.943+4991_943+4993dup	ENSP00000514906.1:n.943+4991_943+4993dup
ENST00000700272.1:c.*900-306_*900-304dup	ENSP00000514907.1:n.*900-306_*900-304dup
ENST00000700273.1:c.944-306_944-304dup	ENSP00000514908.1:n.944-306_944-304dup
ENST00000700302.1:c.956-306_956-304dup	ENSP00000514929.1:n.956-306_956-304dup
ENST00000700303.1:c.*618-306_*618-304dup	ENSP00000514930.1:n.*618-306_*618-304dup
ENST00000700304.1:c.*900-306_*900-304dup	ENSP00000514931.1:n.*900-306_*900-304dup
ENST00000700305.1:c.*514-306_*514-304dup	ENSP00000514932.1:n.*514-306_*514-304dup
ENST00000700306.1:c.956-306_956-304dup	ENSP00000514933.1:n.956-306_956-304dup
ENST00000700307.1:c.857-306_857-304dup	ENSP00000514934.1:n.857-306_857-304dup
ENST00000700308.1:c.*900-306_*900-304dup	ENSP00000514935.1:n.*900-306_*900-304dup
ENST00000700309.1:c.*1045-306_*1045-304dup	ENSP00000514936.1:n.*1045-306_*1045-304dup
ENST00000700310.1:c.937-306_937-304dup	ENSP00000514937.1:n.937-306_937-304dup
ENST00000700311.1:c.956-306_956-304dup	ENSP00000514938.1:n.956-306_956-304dup
ENST00000700312.1:c.707-306_707-304dup	ENSP00000514939.1:n.707-306_707-304dup
ENST00000700313.1:c.944-306_944-304dup	ENSP00000514940.1:n.944-306_944-304dup
ENST00000700314.1:c.*895-306_*895-304dup	ENSP00000514941.1:n.*895-306_*895-304dup
ENST00000700315.1:c.*514-306_*514-304dup	ENSP00000514942.1:n.*514-306_*514-304dup
ENST00000700316.1:c.*736-306_*736-304dup	ENSP00000514943.1:n.*736-306_*736-304dup
ENST00000700317.1:c.956-306_956-304dup	ENSP00000514944.1:n.956-306_956-304dup
ENST00000700318.1:c.*618-306_*618-304dup	ENSP00000514945.1:n.*618-306_*618-304dup
ENST00000700319.1:c.*396-306_*396-304dup	ENSP00000514946.1:n.*396-306_*396-304dup
ENST00000700320.1:c.983-306_983-304dup	ENSP00000514947.1:n.983-306_983-304dup
ENST00000700321.1:c.956-306_956-304dup	ENSP00000514948.1:n.956-306_956-304dup
ENST00000700322.1:c.944-306_944-304dup	ENSP00000514949.1:n.944-306_944-304dup
ENST00000700323.1:c.956-306_956-304dup	ENSP00000514950.1:n.956-306_956-304dup
ENST00000700324.1:c.944-306_944-304dup	ENSP00000514951.1:n.944-306_944-304dup
ENST00000700375.1:c.956-306_956-304dup	ENSP00000514966.1:n.956-306_956-304dup
ENST00000700377.1:c.*424-306_*424-304dup	ENSP00000514967.1:n.*424-306_*424-304dup
ENST00000700378.1:c.956-306_956-304dup	ENSP00000514968.1:n.956-306_956-304dup
ENST00000700379.1:n.1354-306_1354-304dup
ENST00000700389.1:c.944-306_944-304dup	ENSP00000514970.1:n.944-306_944-304dup
ENST00000700390.1:n.2667-306_2667-304dup
ENST00000700391.1:n.167-306_167-304dup
ENST00000700404.1:n.1955-306_1955-304dup
ENST00000700435.1:n.1091-306_1091-304dup
ENST00000700436.1:c.1048-306_1048-304dup	ENSP00000514987.1:n.1048-306_1048-304dup
ENST00000700437.1:c.707-306_707-304dup	ENSP00000514988.1:n.707-306_707-304dup
ENST00000700468.1:c.845-306_845-304dup	ENSP00000515001.1:n.845-306_845-304dup
ENST00000700469.1:c.944-306_944-304dup	ENSP00000515002.1:n.944-306_944-304dup
ENST00000324501.10:c.956-306_956-304dup MANE Select	ENSP00000326366.5:n.956-306_956-304dup
ENST00000324501.9:c.956-306_956-304dup	ENSP00000326366.5:n.956-306_956-304dup
ENST00000357710.8:c.944-306_944-304dup	ENSP00000350342.4:n.944-306_944-304dup
ENST00000394164.5:c.944-306_944-304dup	ENSP00000377719.1:n.944-306_944-304dup
ENST00000406768.1:c.680-306_680-304dup	ENSP00000385948.1:n.680-306_680-304dup
ENST00000553855.5:c.1048-306_1048-304dup	ENSP00000452242.1:n.1048-306_1048-304dup
ENST00000554995.1:n.508-306_508-304dup
ENST00000555386.5:c.1036-306_1036-304dup	ENSP00000450845.1:n.1036-306_1036-304dup
ENST00000555867.1:n.321-306_321-304dup
ENST00000557511.5:c.955+4991_955+4993dup	ENSP00000451429.1:n.955+4991_955+4993dup
NM_000021.3:c.956-306_956-304dup	NP_000012.1:n.956-306_956-304dup
NM_007318.2:c.944-306_944-304dup	NP_015557.2:n.944-306_944-304dup
XM_005267864.1:c.956-306_956-304dup	XP_005267921.1:n.956-306_956-304dup
XM_005267866.1:c.944-306_944-304dup	XP_005267923.1:n.944-306_944-304dup
XM_011536971.1:c.956-306_956-304dup	XP_011535273.1:n.956-306_956-304dup
XM_011536972.1:c.956-306_956-304dup	XP_011535274.1:n.956-306_956-304dup
XM_011536973.1:c.944-306_944-304dup	XP_011535275.1:n.944-306_944-304dup
XM_011536974.1:c.944-306_944-304dup	XP_011535276.1:n.944-306_944-304dup
XM_005267864.3:c.956-306_956-304dup	XP_005267921.1:n.956-306_956-304dup
XM_005267866.2:c.944-306_944-304dup	XP_005267923.1:n.944-306_944-304dup
XM_011536972.2:c.956-306_956-304dup	XP_011535274.1:n.956-306_956-304dup
XM_011536973.2:c.944-306_944-304dup	XP_011535275.1:n.944-306_944-304dup
XM_011536974.2:c.944-306_944-304dup	XP_011535276.1:n.944-306_944-304dup
NM_000021.4:c.956-306_956-304dup MANE Select	NP_000012.1:n.956-306_956-304dup
NM_007318.3:c.944-306_944-304dup	NP_015557.2:n.944-306_944-304dup