Canonical Allele Identifier: CA2575570941

Gene: PSEN1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73198023_73198028del , CM000676.2:g.73198023_73198028del	GRCh38
NC_000014.8:g.73664731_73664736del , CM000676.1:g.73664731_73664736del	GRCh37
NC_000014.7:g.72734484_72734489del	NCBI36
NG_007386.2:g.66553_66558del

Transcript Alleles

HGVS	Amino-acid change
ENST00000553599.6:c.758-8_758-3del	ENSP00000452477.2:n.758-8_758-3del
ENST00000554131.6:c.770-8_770-3del	ENSP00000451915.2:n.770-8_770-3del
ENST00000554995.2:n.1512_1517del
ENST00000555386.6:c.758-8_758-3del	ENSP00000450845.1:n.758-8_758-3del
ENST00000556066.2:n.1196-8_1196-3del
ENST00000556951.6:c.758-8_758-3del	ENSP00000450551.2:n.758-8_758-3del
ENST00000557293.6:c.650-8_650-3del	ENSP00000451880.2:n.650-8_650-3del
ENST00000559361.6:c.*714-8_*714-3del	ENSP00000454156.1:n.*714-8_*714-3del
ENST00000697912.1:c.758-8_758-3del	ENSP00000513477.1:n.758-8_758-3del
ENST00000697913.1:n.1024-8_1024-3del
ENST00000700265.1:c.758-8_758-3del	ENSP00000514901.1:n.758-8_758-3del
ENST00000700266.1:c.*982-8_*982-3del	ENSP00000514902.1:n.*982-8_*982-3del
ENST00000700267.1:c.770-8_770-3del	ENSP00000514903.1:n.770-8_770-3del
ENST00000700268.1:c.770-8_770-3del	ENSP00000514904.1:n.770-8_770-3del
ENST00000700269.1:c.770-8_770-3del	ENSP00000514905.1:n.770-8_770-3del
ENST00000700270.1:n.1026-8_1026-3del
ENST00000700271.1:c.758-8_758-3del	ENSP00000514906.1:n.758-8_758-3del
ENST00000700272.1:c.*714-8_*714-3del	ENSP00000514907.1:n.*714-8_*714-3del
ENST00000700273.1:c.758-8_758-3del	ENSP00000514908.1:n.758-8_758-3del
ENST00000700302.1:c.770-8_770-3del	ENSP00000514929.1:n.770-8_770-3del
ENST00000700303.1:c.*432-8_*432-3del	ENSP00000514930.1:n.*432-8_*432-3del
ENST00000700304.1:c.*714-8_*714-3del	ENSP00000514931.1:n.*714-8_*714-3del
ENST00000700305.1:c.*328-8_*328-3del	ENSP00000514932.1:n.*328-8_*328-3del
ENST00000700306.1:c.770-8_770-3del	ENSP00000514933.1:n.770-8_770-3del
ENST00000700307.1:c.769+5159_769+5164del	ENSP00000514934.1:n.769+5159_769+5164del
ENST00000700308.1:c.*714-8_*714-3del	ENSP00000514935.1:n.*714-8_*714-3del
ENST00000700309.1:c.*859-8_*859-3del	ENSP00000514936.1:n.*859-8_*859-3del
ENST00000700310.1:c.757+5159_757+5164del	ENSP00000514937.1:n.757+5159_757+5164del
ENST00000700311.1:c.770-8_770-3del	ENSP00000514938.1:n.770-8_770-3del
ENST00000700312.1:c.521-8_521-3del	ENSP00000514939.1:n.521-8_521-3del
ENST00000700313.1:c.758-8_758-3del	ENSP00000514940.1:n.758-8_758-3del
ENST00000700314.1:c.*709-8_*709-3del	ENSP00000514941.1:n.*709-8_*709-3del
ENST00000700315.1:c.*328-8_*328-3del	ENSP00000514942.1:n.*328-8_*328-3del
ENST00000700316.1:c.*550-8_*550-3del	ENSP00000514943.1:n.*550-8_*550-3del
ENST00000700317.1:c.770-8_770-3del	ENSP00000514944.1:n.770-8_770-3del
ENST00000700318.1:c.*432-8_*432-3del	ENSP00000514945.1:n.*432-8_*432-3del
ENST00000700319.1:c.*210-8_*210-3del	ENSP00000514946.1:n.*210-8_*210-3del
ENST00000700320.1:c.789_794del	ENSP00000514947.1:p.Phe264_Leu265del
ENST00000700321.1:c.770-8_770-3del	ENSP00000514948.1:n.770-8_770-3del
ENST00000700322.1:c.758-8_758-3del	ENSP00000514949.1:n.758-8_758-3del
ENST00000700323.1:c.770-8_770-3del	ENSP00000514950.1:n.770-8_770-3del
ENST00000700324.1:c.758-8_758-3del	ENSP00000514951.1:n.758-8_758-3del
ENST00000700375.1:c.770-8_770-3del	ENSP00000514966.1:n.770-8_770-3del
ENST00000700377.1:c.*238-8_*238-3del	ENSP00000514967.1:n.*238-8_*238-3del
ENST00000700378.1:c.770-8_770-3del	ENSP00000514968.1:n.770-8_770-3del
ENST00000700379.1:n.1168-8_1168-3del
ENST00000700389.1:c.758-8_758-3del	ENSP00000514970.1:n.758-8_758-3del
ENST00000700390.1:n.2481-8_2481-3del
ENST00000700404.1:n.1769-8_1769-3del
ENST00000700433.1:n.1021-8_1021-3del
ENST00000700434.1:n.1023-8_1023-3del
ENST00000700435.1:n.905-8_905-3del
ENST00000700436.1:c.770-8_770-3del	ENSP00000514987.1:n.770-8_770-3del
ENST00000700437.1:c.521-8_521-3del	ENSP00000514988.1:n.521-8_521-3del
ENST00000700467.1:n.1027-8_1027-3del
ENST00000700468.1:c.757+5159_757+5164del	ENSP00000515001.1:n.757+5159_757+5164del
ENST00000700469.1:c.758-8_758-3del	ENSP00000515002.1:n.758-8_758-3del
ENST00000324501.10:c.770-8_770-3del MANE Select	ENSP00000326366.5:n.770-8_770-3del
ENST00000324501.9:c.770-8_770-3del	ENSP00000326366.5:n.770-8_770-3del
ENST00000357710.8:c.758-8_758-3del	ENSP00000350342.4:n.758-8_758-3del
ENST00000394164.5:c.758-8_758-3del	ENSP00000377719.1:n.758-8_758-3del
ENST00000406768.1:c.494-8_494-3del	ENSP00000385948.1:n.494-8_494-3del
ENST00000553855.5:c.770-8_770-3del	ENSP00000452242.1:n.770-8_770-3del
ENST00000554995.1:n.314_319del
ENST00000555386.5:c.758-8_758-3del	ENSP00000450845.1:n.758-8_758-3del
ENST00000557511.5:c.770-8_770-3del	ENSP00000451429.1:n.770-8_770-3del
NM_000021.3:c.770-8_770-3del	NP_000012.1:n.770-8_770-3del
NM_007318.2:c.758-8_758-3del	NP_015557.2:n.758-8_758-3del
XM_005267864.1:c.770-8_770-3del	XP_005267921.1:n.770-8_770-3del
XM_005267866.1:c.758-8_758-3del	XP_005267923.1:n.758-8_758-3del
XM_011536971.1:c.770-8_770-3del	XP_011535273.1:n.770-8_770-3del
XM_011536972.1:c.770-8_770-3del	XP_011535274.1:n.770-8_770-3del
XM_011536973.1:c.758-8_758-3del	XP_011535275.1:n.758-8_758-3del
XM_011536974.1:c.758-8_758-3del	XP_011535276.1:n.758-8_758-3del
XM_005267864.3:c.770-8_770-3del	XP_005267921.1:n.770-8_770-3del
XM_005267866.2:c.758-8_758-3del	XP_005267923.1:n.758-8_758-3del
XM_011536972.2:c.770-8_770-3del	XP_011535274.1:n.770-8_770-3del
XM_011536973.2:c.758-8_758-3del	XP_011535275.1:n.758-8_758-3del
XM_011536974.2:c.758-8_758-3del	XP_011535276.1:n.758-8_758-3del
NM_000021.4:c.770-8_770-3del MANE Select	NP_000012.1:n.770-8_770-3del
NM_007318.3:c.758-8_758-3del	NP_015557.2:n.758-8_758-3del