Canonical Allele Identifier: CA2580088695

Gene: PSEN1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73198069_73198071dup , CM000676.2:g.73198069_73198071dup	GRCh38
NC_000014.8:g.73664777_73664779dup , CM000676.1:g.73664777_73664779dup	GRCh37
NC_000014.7:g.72734530_72734532dup	NCBI36
NG_007386.2:g.66599_66601dup

Transcript Alleles

HGVS	Amino-acid Change
NM_000021.4:c.808_810dup MANE Select	NP_000012.1:p.Met270_Leu271insMet
ENST00000324501.10:c.808_810dup MANE Select	ENSP00000326366.5:p.Met270_Leu271insMet
NM_000021.3:c.808_810dup	NP_000012.1:p.Met270_Leu271insMet
NM_007318.2:c.796_798dup	NP_015557.2:p.Met266_Leu267insMet
NM_007318.3:c.796_798dup	NP_015557.2:p.Met266_Leu267insMet
ENST00000324501.9:c.808_810dup	ENSP00000326366.5:p.Met270_Leu271insMet
ENST00000357710.8:c.796_798dup	ENSP00000350342.4:p.Met266_Leu267insMet
ENST00000394164.5:c.796_798dup	ENSP00000377719.1:p.Met266_Leu267insMet
ENST00000406768.1:c.532_534dup	ENSP00000385948.1:p.Met178_Leu179insMet
ENST00000553599.6:c.796_798dup	ENSP00000452477.2:p.Met266_Leu267insMet
ENST00000553855.5:c.808_810dup	ENSP00000452242.1:p.Met270_Leu271insMet
ENST00000554131.6:c.808_810dup	ENSP00000451915.2:p.Met270_Leu271insMet
ENST00000554995.1:n.360_362dup
ENST00000554995.2:n.1558_1560dup
ENST00000555386.5:c.796_798dup	ENSP00000450845.1:p.Met266_Leu267insMet
ENST00000555386.6:c.796_798dup	ENSP00000450845.1:p.Met266_Leu267insMet
ENST00000556066.2:n.1234_1236dup
ENST00000556951.6:c.796_798dup	ENSP00000450551.2:p.Met266_Leu267insMet
ENST00000557293.6:c.688_690dup	ENSP00000451880.2:p.Met230_Leu231insMet
ENST00000557511.5:c.808_810dup	ENSP00000451429.1:p.Met270_Leu271insMet
ENST00000559361.6:c.*752_*754dup	ENSP00000454156.1:n.*752_*754dup
ENST00000697912.1:c.796_798dup	ENSP00000513477.1:p.Met266_Leu267insMet
ENST00000697913.1:n.1062_1064dup
ENST00000700265.1:c.796_798dup	ENSP00000514901.1:p.Met266_Leu267insMet
ENST00000700266.1:c.*1020_*1022dup	ENSP00000514902.1:n.*1020_*1022dup
ENST00000700267.1:c.808_810dup	ENSP00000514903.1:p.Met270_Leu271insMet
ENST00000700268.1:c.808_810dup	ENSP00000514904.1:p.Met270_Leu271insMet
ENST00000700269.1:c.808_810dup	ENSP00000514905.1:p.Met270_Leu271insMet
ENST00000700270.1:n.1064_1066dup
ENST00000700271.1:c.796_798dup	ENSP00000514906.1:p.Met266_Leu267insMet
ENST00000700272.1:c.*752_*754dup	ENSP00000514907.1:n.*752_*754dup
ENST00000700273.1:c.796_798dup	ENSP00000514908.1:p.Met266_Leu267insMet
ENST00000700302.1:c.808_810dup	ENSP00000514929.1:p.Met270_Leu271insMet
ENST00000700303.1:c.*470_*472dup	ENSP00000514930.1:n.*470_*472dup
ENST00000700304.1:c.*752_*754dup	ENSP00000514931.1:n.*752_*754dup
ENST00000700305.1:c.*366_*368dup	ENSP00000514932.1:n.*366_*368dup
ENST00000700306.1:c.808_810dup	ENSP00000514933.1:p.Met270_Leu271insMet
ENST00000700307.1:c.769+5205_769+5207dup	ENSP00000514934.1:n.769+5205_769+5207dup
ENST00000700308.1:c.*752_*754dup	ENSP00000514935.1:n.*752_*754dup
ENST00000700309.1:c.*897_*899dup	ENSP00000514936.1:n.*897_*899dup
ENST00000700310.1:c.757+5205_757+5207dup	ENSP00000514937.1:n.757+5205_757+5207dup
ENST00000700311.1:c.808_810dup	ENSP00000514938.1:p.Met270_Leu271insMet
ENST00000700312.1:c.559_561dup	ENSP00000514939.1:p.Met187_Leu188insMet
ENST00000700313.1:c.796_798dup	ENSP00000514940.1:p.Met266_Leu267insMet
ENST00000700314.1:c.*747_*749dup	ENSP00000514941.1:n.*747_*749dup
ENST00000700315.1:c.*366_*368dup	ENSP00000514942.1:n.*366_*368dup
ENST00000700316.1:c.*588_*590dup	ENSP00000514943.1:n.*588_*590dup
ENST00000700317.1:c.808_810dup	ENSP00000514944.1:p.Met270_Leu271insMet
ENST00000700318.1:c.*470_*472dup	ENSP00000514945.1:n.*470_*472dup
ENST00000700319.1:c.*248_*250dup	ENSP00000514946.1:n.*248_*250dup
ENST00000700320.1:c.835_837dup	ENSP00000514947.1:p.Met279_Leu280insMet
ENST00000700321.1:c.808_810dup	ENSP00000514948.1:p.Met270_Leu271insMet
ENST00000700322.1:c.796_798dup	ENSP00000514949.1:p.Met266_Leu267insMet
ENST00000700323.1:c.808_810dup	ENSP00000514950.1:p.Met270_Leu271insMet
ENST00000700324.1:c.796_798dup	ENSP00000514951.1:p.Met266_Leu267insMet
ENST00000700375.1:c.808_810dup	ENSP00000514966.1:p.Met270_Leu271insMet
ENST00000700377.1:c.*276_*278dup	ENSP00000514967.1:n.*276_*278dup
ENST00000700378.1:c.808_810dup	ENSP00000514968.1:p.Met270_Leu271insMet
ENST00000700379.1:n.1206_1208dup
ENST00000700389.1:c.796_798dup	ENSP00000514970.1:p.Met266_Leu267insMet
ENST00000700390.1:n.2519_2521dup
ENST00000700404.1:n.1807_1809dup
ENST00000700433.1:n.1059_1061dup
ENST00000700434.1:n.1061_1063dup
ENST00000700435.1:n.943_945dup
ENST00000700436.1:c.808_810dup	ENSP00000514987.1:p.Met270_Leu271insMet
ENST00000700437.1:c.559_561dup	ENSP00000514988.1:p.Met187_Leu188insMet
ENST00000700467.1:n.1065_1067dup
ENST00000700468.1:c.757+5205_757+5207dup	ENSP00000515001.1:n.757+5205_757+5207dup
ENST00000700469.1:c.796_798dup	ENSP00000515002.1:p.Met266_Leu267insMet
XM_005267864.1:c.808_810dup	XP_005267921.1:p.Met270_Leu271insMet
XM_005267864.3:c.808_810dup	XP_005267921.1:p.Met270_Leu271insMet
XM_005267866.1:c.796_798dup	XP_005267923.1:p.Met266_Leu267insMet
XM_005267866.2:c.796_798dup	XP_005267923.1:p.Met266_Leu267insMet
XM_011536971.1:c.808_810dup	XP_011535273.1:p.Met270_Leu271insMet
XM_011536972.1:c.808_810dup	XP_011535274.1:p.Met270_Leu271insMet
XM_011536972.2:c.808_810dup	XP_011535274.1:p.Met270_Leu271insMet
XM_011536973.1:c.796_798dup	XP_011535275.1:p.Met266_Leu267insMet
XM_011536973.2:c.796_798dup	XP_011535275.1:p.Met266_Leu267insMet
XM_011536974.1:c.796_798dup	XP_011535276.1:p.Met266_Leu267insMet
XM_011536974.2:c.796_798dup	XP_011535276.1:p.Met266_Leu267insMet