Canonical Allele Identifier: CA2695219538

Gene: PSEN1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73186852_73186853delinsTT , CM000676.2:g.73186852_73186853delinsTT	GRCh38
NC_000014.8:g.73653560_73653561delinsTT , CM000676.1:g.73653560_73653561delinsTT	GRCh37
NC_000014.7:g.72723313_72723314delinsTT	NCBI36
NG_007386.2:g.55382_55383delinsTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000553599.6:c.469-1_469delinsTT
ENST00000554131.6:c.481-1_481delinsTT
ENST00000555386.6:c.469-1_469delinsTT
ENST00000556066.2:n.907-1_907delinsTT
ENST00000556951.6:c.469-1_469delinsTT
ENST00000557293.6:c.481-1_481delinsTT
ENST00000559361.6:c.*425-1_*425delinsTT
ENST00000697912.1:c.469-1_469delinsTT
ENST00000697913.1:n.735-1_735delinsTT
ENST00000700265.1:c.469-1_469delinsTT
ENST00000700266.1:c.*693-1_*693delinsTT
ENST00000700267.1:c.481-1_481delinsTT
ENST00000700268.1:c.481-1_481delinsTT
ENST00000700269.1:c.481-1_481delinsTT
ENST00000700270.1:n.737-1_737delinsTT
ENST00000700271.1:c.469-1_469delinsTT
ENST00000700272.1:c.*425-1_*425delinsTT
ENST00000700273.1:c.469-1_469delinsTT
ENST00000700302.1:c.481-1_481delinsTT
ENST00000700303.1:c.*143-1_*143delinsTT
ENST00000700304.1:c.*425-1_*425delinsTT
ENST00000700305.1:c.*39-1_*39delinsTT
ENST00000700306.1:c.481-1_481delinsTT
ENST00000700307.1:c.481-1_481delinsTT
ENST00000700308.1:c.*425-1_*425delinsTT
ENST00000700309.1:c.*570-1_*570delinsTT
ENST00000700310.1:c.469-1_469delinsTT
ENST00000700311.1:c.481-1_481delinsTT
ENST00000700312.1:c.232-1_232delinsTT
ENST00000700313.1:c.469-1_469delinsTT
ENST00000700314.1:c.*420-1_*420delinsTT
ENST00000700315.1:c.*39-1_*39delinsTT
ENST00000700316.1:c.*261-1_*261delinsTT
ENST00000700317.1:c.481-1_481delinsTT
ENST00000700318.1:c.*143-1_*143delinsTT
ENST00000700319.1:c.481-5792_481-5791delinsTT	ENSP00000514946.1:n.481-5792_481-5791deli...
ENST00000700320.1:c.481-1_481delinsTT
ENST00000700321.1:c.481-1_481delinsTT
ENST00000700322.1:c.469-1_469delinsTT
ENST00000700323.1:c.481-1_481delinsTT
ENST00000700324.1:c.469-1_469delinsTT
ENST00000700375.1:c.481-1_481delinsTT
ENST00000700376.1:n.1065-1_1065delinsTT
ENST00000700377.1:c.481-1_481delinsTT
ENST00000700378.1:c.481-1_481delinsTT
ENST00000700379.1:n.879-1_879delinsTT
ENST00000700388.1:n.728-1_728delinsTT
ENST00000700389.1:c.469-1_469delinsTT
ENST00000700390.1:n.2192-1_2192delinsTT
ENST00000700404.1:n.1364-1_1364delinsTT
ENST00000700432.1:n.838-1_838delinsTT
ENST00000700433.1:n.616-1_616delinsTT
ENST00000700434.1:n.734-1_734delinsTT
ENST00000700435.1:n.616-1_616delinsTT
ENST00000700436.1:c.481-1_481delinsTT
ENST00000700437.1:c.232-1_232delinsTT
ENST00000700467.1:n.738-1_738delinsTT
ENST00000700468.1:c.469-1_469delinsTT
ENST00000700469.1:c.469-1_469delinsTT
ENST00000324501.10:c.481-1_481delinsTT
ENST00000324501.9:c.481-1_481delinsTT
ENST00000357710.8:c.469-1_469delinsTT
ENST00000394164.5:c.469-1_469delinsTT
ENST00000406768.1:c.205-1_205delinsTT
ENST00000553855.5:c.481-1_481delinsTT
ENST00000555386.5:c.469-1_469delinsTT
ENST00000557511.5:c.481-1_481delinsTT
NM_000021.3:c.481-1_481delinsTT
NM_007318.2:c.469-1_469delinsTT
XM_005267864.1:c.481-1_481delinsTT
XM_005267866.1:c.469-1_469delinsTT
XM_011536971.1:c.481-1_481delinsTT
XM_011536972.1:c.481-1_481delinsTT
XM_011536973.1:c.469-1_469delinsTT
XM_011536974.1:c.469-1_469delinsTT
XM_005267864.3:c.481-1_481delinsTT
XM_005267866.2:c.469-1_469delinsTT
XM_011536972.2:c.481-1_481delinsTT
XM_011536973.2:c.469-1_469delinsTT
XM_011536974.2:c.469-1_469delinsTT
NM_000021.4:c.481-1_481delinsTT
NM_007318.3:c.469-1_469delinsTT