Canonical Allele Identifier: CA2146495481

Gene: PSEN1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73212068_73212071delinsTGGA , CM000676.2:g.73212068_73212071delinsTGGA	GRCh38
NC_000014.8:g.73678776_73678779delinsTGGA , CM000676.1:g.73678776_73678779delinsTGGA	GRCh37
NC_000014.7:g.72748529_72748532delinsTGGA	NCBI36
NG_007386.2:g.80598_80601delinsTGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553599.6:c.1117+126_1117+129delinsTGGA	ENSP00000452477.2:n.1117+126_1117+129delinsTGGA
ENST00000554131.6:c.1129+126_1129+129delinsTGGA	ENSP00000451915.2:n.1129+126_1129+129delinsTGGA
ENST00000554995.2:n.1879+126_1879+129delinsTGGA
ENST00000555386.6:c.*84+126_*84+129delinsTGGA	ENSP00000450845.1:n.*84+126_*84+129delinsTGGA
ENST00000556066.2:n.1555+126_1555+129delinsTGGA
ENST00000556951.6:c.1117+126_1117+129delinsTGGA	ENSP00000450551.2:n.1117+126_1117+129delinsTGGA
ENST00000557293.6:c.1009+126_1009+129delinsTGGA	ENSP00000451880.2:n.1009+126_1009+129delinsTGGA
ENST00000559361.6:c.*1073+126_*1073+129delinsTGGA	ENSP00000454156.1:n.*1073+126_*1073+129delinsTGGA
ENST00000697912.1:c.1117+126_1117+129delinsTGGA	ENSP00000513477.1:n.1117+126_1117+129delinsTGGA
ENST00000697913.1:n.6679+126_6679+129delinsTGGA
ENST00000700265.1:c.1117+126_1117+129delinsTGGA	ENSP00000514901.1:n.1117+126_1117+129delinsTGGA
ENST00000700266.1:c.*1341+126_*1341+129delinsTGGA	ENSP00000514902.1:n.*1341+126_*1341+129delinsTGGA
ENST00000700267.1:c.1129+126_1129+129delinsTGGA	ENSP00000514903.1:n.1129+126_1129+129delinsTGGA
ENST00000700268.1:c.1129+126_1129+129delinsTGGA	ENSP00000514904.1:n.1129+126_1129+129delinsTGGA
ENST00000700269.1:c.1129+126_1129+129delinsTGGA	ENSP00000514905.1:n.1129+126_1129+129delinsTGGA
ENST00000700271.1:c.944-5058_944-5055delinsTGGA	ENSP00000514906.1:n.944-5058_944-5055delinsTGGA
ENST00000700272.1:c.*1073+126_*1073+129delinsTGGA	ENSP00000514907.1:n.*1073+126_*1073+129delinsTGGA
ENST00000700273.1:c.1117+126_1117+129delinsTGGA	ENSP00000514908.1:n.1117+126_1117+129delinsTGGA
ENST00000700302.1:c.1172+83_1172+86delinsTGGA	ENSP00000514929.1:n.1172+83_1172+86delinsTGGA
ENST00000700303.1:c.*791+126_*791+129delinsTGGA	ENSP00000514930.1:n.*791+126_*791+129delinsTGGA
ENST00000700304.1:c.*1073+126_*1073+129delinsTGGA	ENSP00000514931.1:n.*1073+126_*1073+129delinsTGGA
ENST00000700305.1:c.*687+126_*687+129delinsTGGA	ENSP00000514932.1:n.*687+126_*687+129delinsTGGA
ENST00000700306.1:c.1129+126_1129+129delinsTGGA	ENSP00000514933.1:n.1129+126_1129+129delinsTGGA
ENST00000700307.1:c.1030+126_1030+129delinsTGGA	ENSP00000514934.1:n.1030+126_1030+129delinsTGGA
ENST00000700308.1:c.*1073+126_*1073+129delinsTGGA	ENSP00000514935.1:n.*1073+126_*1073+129delinsTGGA
ENST00000700309.1:c.*1218+126_*1218+129delinsTGGA	ENSP00000514936.1:n.*1218+126_*1218+129delinsTGGA
ENST00000700310.1:c.*84+126_*84+129delinsTGGA	ENSP00000514937.1:n.*84+126_*84+129delinsTGGA
ENST00000700311.1:c.1172+83_1172+86delinsTGGA	ENSP00000514938.1:n.1172+83_1172+86delinsTGGA
ENST00000700312.1:c.880+126_880+129delinsTGGA	ENSP00000514939.1:n.880+126_880+129delinsTGGA
ENST00000700313.1:c.1117+126_1117+129delinsTGGA	ENSP00000514940.1:n.1117+126_1117+129delinsTGGA
ENST00000700314.1:c.*1068+126_*1068+129delinsTGGA	ENSP00000514941.1:n.*1068+126_*1068+129delinsTGGA
ENST00000700315.1:c.*687+126_*687+129delinsTGGA	ENSP00000514942.1:n.*687+126_*687+129delinsTGGA
ENST00000700316.1:c.*909+126_*909+129delinsTGGA	ENSP00000514943.1:n.*909+126_*909+129delinsTGGA
ENST00000700317.1:c.1129+126_1129+129delinsTGGA	ENSP00000514944.1:n.1129+126_1129+129delinsTGGA
ENST00000700318.1:c.*791+126_*791+129delinsTGGA	ENSP00000514945.1:n.*791+126_*791+129delinsTGGA
ENST00000700319.1:c.*569+126_*569+129delinsTGGA	ENSP00000514946.1:n.*569+126_*569+129delinsTGGA
ENST00000700320.1:c.1156+126_1156+129delinsTGGA	ENSP00000514947.1:n.1156+126_1156+129delinsTGGA
ENST00000700321.1:c.1129+126_1129+129delinsTGGA	ENSP00000514948.1:n.1129+126_1129+129delinsTGGA
ENST00000700322.1:c.1117+126_1117+129delinsTGGA	ENSP00000514949.1:n.1117+126_1117+129delinsTGGA
ENST00000700323.1:c.1129+126_1129+129delinsTGGA	ENSP00000514950.1:n.1129+126_1129+129delinsTGGA
ENST00000700324.1:c.1117+126_1117+129delinsTGGA	ENSP00000514951.1:n.1117+126_1117+129delinsTGGA
ENST00000700375.1:c.1129+126_1129+129delinsTGGA	ENSP00000514966.1:n.1129+126_1129+129delinsTGGA
ENST00000700377.1:c.*597+126_*597+129delinsTGGA	ENSP00000514967.1:n.*597+126_*597+129delinsTGGA
ENST00000700378.1:c.1129+126_1129+129delinsTGGA	ENSP00000514968.1:n.1129+126_1129+129delinsTGGA
ENST00000700379.1:n.1527+126_1527+129delinsTGGA
ENST00000700389.1:c.1117+126_1117+129delinsTGGA	ENSP00000514970.1:n.1117+126_1117+129delinsTGGA
ENST00000700390.1:n.2840+126_2840+129delinsTGGA
ENST00000700391.1:n.340+126_340+129delinsTGGA
ENST00000700404.1:n.2128+126_2128+129delinsTGGA
ENST00000700435.1:n.1264+126_1264+129delinsTGGA
ENST00000700436.1:c.*84+126_*84+129delinsTGGA	ENSP00000514987.1:n.*84+126_*84+129delinsTGGA
ENST00000700437.1:c.880+126_880+129delinsTGGA	ENSP00000514988.1:n.880+126_880+129delinsTGGA
ENST00000700468.1:c.1018+126_1018+129delinsTGGA	ENSP00000515001.1:n.1018+126_1018+129delinsTGGA
ENST00000700469.1:c.1117+126_1117+129delinsTGGA	ENSP00000515002.1:n.1117+126_1117+129delinsTGGA
ENST00000324501.10:c.1129+126_1129+129delinsTGGA MANE Select	ENSP00000326366.5:n.1129+126_1129+129delinsTGGA
ENST00000324501.9:c.1129+126_1129+129delinsTGGA	ENSP00000326366.5:n.1129+126_1129+129delinsTGGA
ENST00000357710.8:c.1117+126_1117+129delinsTGGA	ENSP00000350342.4:n.1117+126_1117+129delinsTGGA
ENST00000394164.5:c.1117+126_1117+129delinsTGGA	ENSP00000377719.1:n.1117+126_1117+129delinsTGGA
ENST00000406768.1:c.853+126_853+129delinsTGGA	ENSP00000385948.1:n.853+126_853+129delinsTGGA
ENST00000553855.5:c.1221+126_1221+129delinsTGGA	ENSP00000452242.1:n.1221+126_1221+129delinsTGGA
ENST00000555386.5:c.1209+126_1209+129delinsTGGA	ENSP00000450845.1:n.1209+126_1209+129delinsTGGA
ENST00000555867.1:n.494+126_494+129delinsTGGA
ENST00000557511.5:c.956-5058_956-5055delinsTGGA	ENSP00000451429.1:n.956-5058_956-5055delinsTGGA
NM_000021.3:c.1129+126_1129+129delinsTGGA	NP_000012.1:n.1129+126_1129+129delinsTGGA
NM_007318.2:c.1117+126_1117+129delinsTGGA	NP_015557.2:n.1117+126_1117+129delinsTGGA
XM_005267864.1:c.1129+126_1129+129delinsTGGA	XP_005267921.1:n.1129+126_1129+129delinsTGGA
XM_005267866.1:c.1117+126_1117+129delinsTGGA	XP_005267923.1:n.1117+126_1117+129delinsTGGA
XM_011536971.1:c.1129+126_1129+129delinsTGGA	XP_011535273.1:n.1129+126_1129+129delinsTGGA
XM_011536972.1:c.1129+126_1129+129delinsTGGA	XP_011535274.1:n.1129+126_1129+129delinsTGGA
XM_011536973.1:c.1117+126_1117+129delinsTGGA	XP_011535275.1:n.1117+126_1117+129delinsTGGA
XM_011536974.1:c.1117+126_1117+129delinsTGGA	XP_011535276.1:n.1117+126_1117+129delinsTGGA
XM_005267864.3:c.1129+126_1129+129delinsTGGA	XP_005267921.1:n.1129+126_1129+129delinsTGGA
XM_005267866.2:c.1117+126_1117+129delinsTGGA	XP_005267923.1:n.1117+126_1117+129delinsTGGA
XM_011536972.2:c.1129+126_1129+129delinsTGGA	XP_011535274.1:n.1129+126_1129+129delinsTGGA
XM_011536973.2:c.1117+126_1117+129delinsTGGA	XP_011535275.1:n.1117+126_1117+129delinsTGGA
XM_011536974.2:c.1117+126_1117+129delinsTGGA	XP_011535276.1:n.1117+126_1117+129delinsTGGA
NM_000021.4:c.1129+126_1129+129delinsTGGA MANE Select	NP_000012.1:n.1129+126_1129+129delinsTGGA
NM_007318.3:c.1117+126_1117+129delinsTGGA	NP_015557.2:n.1117+126_1117+129delinsTGGA