Canonical Allele Identifier: CA2146454024
Gene: PSEN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.73136696_73136699delinsTGAG , CM000676.2:g.73136696_73136699delinsTGAG GRCh38
NC_000014.8:g.73603404_73603407delinsTGAG , CM000676.1:g.73603404_73603407delinsTGAG GRCh37
NC_000014.7:g.72673157_72673160delinsTGAG NCBI36
NG_007386.2:g.5226_5229delinsTGAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000553447.7:c.-177+117_-177+120delinsTGAG ENSP00000514869.1:n.-177+117_-177+120delinsTGAG
ENST00000553599.6:c.-178+113_-178+116delinsTGAG ENSP00000452477.2:n.-178+113_-178+116delinsTGAG
ENST00000554131.6:c.-177+113_-177+116delinsTGAG ENSP00000451915.2:n.-177+113_-177+116delinsTGAG
ENST00000555386.6:c.-136+113_-136+116delinsTGAG ENSP00000450845.1:n.-136+113_-136+116delinsTGAG
ENST00000556011.6:c.-182+117_-182+120delinsTGAG ENSP00000451662.2:n.-182+117_-182+120delinsTGAG
ENST00000556951.6:c.-136+117_-136+120delinsTGAG ENSP00000450551.2:n.-136+117_-136+120delinsTGAG
ENST00000557293.6:c.-136+117_-136+120delinsTGAG ENSP00000451880.2:n.-136+117_-136+120delinsTGAG
ENST00000559361.6:c.-136+117_-136+120delinsTGAG ENSP00000454156.1:n.-136+117_-136+120delinsTGAG
ENST00000697912.1:c.-136+113_-136+116delinsTGAG ENSP00000513477.1:n.-136+113_-136+116delinsTGAG
ENST00000697913.1:n.119+113_119+116delinsTGAG
ENST00000697914.1:n.77+113_77+116delinsTGAG
ENST00000700265.1:c.-104+248_-104+251delinsTGAG ENSP00000514901.1:n.-104+248_-104+251delinsTGAG
ENST00000700266.1:c.-136+113_-136+116delinsTGAG ENSP00000514902.1:n.-136+113_-136+116delinsTGAG
ENST00000700267.1:c.-136+248_-136+251delinsTGAG ENSP00000514903.1:n.-136+248_-136+251delinsTGAG
ENST00000700268.1:c.-136+117_-136+120delinsTGAG ENSP00000514904.1:n.-136+117_-136+120delinsTGAG
ENST00000700269.1:c.-182+117_-182+120delinsTGAG ENSP00000514905.1:n.-182+117_-182+120delinsTGAG
ENST00000700270.1:n.133+113_133+116delinsTGAG
ENST00000700271.1:c.-136+113_-136+116delinsTGAG ENSP00000514906.1:n.-136+113_-136+116delinsTGAG
ENST00000700272.1:c.-136+117_-136+120delinsTGAG ENSP00000514907.1:n.-136+117_-136+120delinsTGAG
ENST00000700273.1:c.-182+117_-182+120delinsTGAG ENSP00000514908.1:n.-182+117_-182+120delinsTGAG
ENST00000700302.1:c.-136+113_-136+116delinsTGAG ENSP00000514929.1:n.-136+113_-136+116delinsTGAG
ENST00000700303.1:c.-136+113_-136+116delinsTGAG ENSP00000514930.1:n.-136+113_-136+116delinsTGAG
ENST00000700304.1:c.-136+113_-136+116delinsTGAG ENSP00000514931.1:n.-136+113_-136+116delinsTGAG
ENST00000700305.1:c.-136+113_-136+116delinsTGAG ENSP00000514932.1:n.-136+113_-136+116delinsTGAG
ENST00000700306.1:c.-178+113_-178+116delinsTGAG ENSP00000514933.1:n.-178+113_-178+116delinsTGAG
ENST00000700307.1:c.-136+113_-136+116delinsTGAG ENSP00000514934.1:n.-136+113_-136+116delinsTGAG
ENST00000700308.1:c.-136+113_-136+116delinsTGAG ENSP00000514935.1:n.-136+113_-136+116delinsTGAG
ENST00000700309.1:c.-136+113_-136+116delinsTGAG ENSP00000514936.1:n.-136+113_-136+116delinsTGAG
ENST00000700310.1:c.-136+113_-136+116delinsTGAG ENSP00000514937.1:n.-136+113_-136+116delinsTGAG
ENST00000700311.1:c.-177+113_-177+116delinsTGAG ENSP00000514938.1:n.-177+113_-177+116delinsTGAG
ENST00000700312.1:c.-289+117_-289+120delinsTGAG ENSP00000514939.1:n.-289+117_-289+120delinsTGAG
ENST00000700313.1:c.-177+117_-177+120delinsTGAG ENSP00000514940.1:n.-177+117_-177+120delinsTGAG
ENST00000700314.1:c.-136+113_-136+116delinsTGAG ENSP00000514941.1:n.-136+113_-136+116delinsTGAG
ENST00000700315.1:c.-136+113_-136+116delinsTGAG ENSP00000514942.1:n.-136+113_-136+116delinsTGAG
ENST00000700316.1:c.-136+113_-136+116delinsTGAG ENSP00000514943.1:n.-136+113_-136+116delinsTGAG
ENST00000700317.1:c.-104+113_-104+116delinsTGAG ENSP00000514944.1:n.-104+113_-104+116delinsTGAG
ENST00000700318.1:c.-136+113_-136+116delinsTGAG ENSP00000514945.1:n.-136+113_-136+116delinsTGAG
ENST00000700319.1:c.-136+113_-136+116delinsTGAG ENSP00000514946.1:n.-136+113_-136+116delinsTGAG
ENST00000700320.1:c.-136+113_-136+116delinsTGAG ENSP00000514947.1:n.-136+113_-136+116delinsTGAG
ENST00000700321.1:c.-136+111_-136+114delinsTGAG ENSP00000514948.1:n.-136+111_-136+114delinsTGAG
ENST00000700322.1:c.-104+113_-104+116delinsTGAG ENSP00000514949.1:n.-104+113_-104+116delinsTGAG
ENST00000700323.1:c.-182+113_-182+116delinsTGAG ENSP00000514950.1:n.-182+113_-182+116delinsTGAG
ENST00000700324.1:c.-177+113_-177+116delinsTGAG ENSP00000514951.1:n.-177+113_-177+116delinsTGAG
ENST00000700374.1:n.123+113_123+116delinsTGAG
ENST00000700375.1:c.-235+113_-235+116delinsTGAG ENSP00000514966.1:n.-235+113_-235+116delinsTGAG
ENST00000700388.1:n.112+113_112+116delinsTGAG
ENST00000700389.1:c.-301+113_-301+116delinsTGAG ENSP00000514970.1:n.-301+113_-301+116delinsTGAG
ENST00000324501.10:c.-136+113_-136+116delinsTGAG MANE Select ENSP00000326366.5:n.-136+113_-136+116delinsTGAG
ENST00000324501.9:c.-136+113_-136+116delinsTGAG ENSP00000326366.5:n.-136+113_-136+116delinsTGAG
ENST00000357710.8:c.-136+113_-136+116delinsTGAG ENSP00000350342.4:n.-136+113_-136+116delinsTGAG
ENST00000394157.7:c.-136+113_-136+116delinsTGAG ENSP00000377712.3:n.-136+113_-136+116delinsTGAG
ENST00000553447.6:n.103+117_103+120delinsTGAG
ENST00000553599.5:c.-178+113_-178+116delinsTGAG ENSP00000452477.1:n.-178+113_-178+116delinsTGAG
ENST00000553719.5:c.-136+117_-136+120delinsTGAG ENSP00000451674.1:n.-136+117_-136+120delinsTGAG
ENST00000554131.5:c.-177+113_-177+116delinsTGAG ENSP00000451915.1:n.-177+113_-177+116delinsTGAG
ENST00000555254.5:c.-160+113_-160+116delinsTGAG ENSP00000450652.1:n.-160+113_-160+116delinsTGAG
ENST00000556011.5:c.-182+117_-182+120delinsTGAG ENSP00000451662.1:n.-182+117_-182+120delinsTGAG
ENST00000556533.5:c.-125+113_-125+116delinsTGAG ENSP00000452128.1:n.-125+113_-125+116delinsTGAG
ENST00000556864.5:c.-235+113_-235+116delinsTGAG ENSP00000451588.1:n.-235+113_-235+116delinsTGAG
ENST00000556951.5:c.-136+117_-136+120delinsTGAG ENSP00000450551.1:n.-136+117_-136+120delinsTGAG
ENST00000557037.5:c.-325+113_-325+116delinsTGAG ENSP00000451347.1:n.-325+113_-325+116delinsTGAG
ENST00000557293.5:c.-136+117_-136+120delinsTGAG ENSP00000451880.1:n.-136+117_-136+120delinsTGAG
ENST00000557356.5:c.-136+248_-136+251delinsTGAG ENSP00000451498.1:n.-136+248_-136+251delinsTGAG
ENST00000559361.5:c.-136+117_-136+120delinsTGAG ENSP00000454156.1:n.-136+117_-136+120delinsTGAG
ENST00000560005.6:c.-238+113_-238+116delinsTGAG ENSP00000453466.1:n.-238+113_-238+116delinsTGAG
NM_000021.3:c.-136+113_-136+116delinsTGAG NP_000012.1:n.-136+113_-136+116delinsTGAG
NM_007318.2:c.-136+113_-136+116delinsTGAG NP_015557.2:n.-136+113_-136+116delinsTGAG
XM_005267864.1:c.-136+117_-136+120delinsTGAG XP_005267921.1:n.-136+117_-136+120delinsTGAG
XM_005267866.1:c.-136+117_-136+120delinsTGAG XP_005267923.1:n.-136+117_-136+120delinsTGAG
XM_005267864.3:c.-136+117_-136+120delinsTGAG XP_005267921.1:n.-136+117_-136+120delinsTGAG
XM_005267866.2:c.-136+117_-136+120delinsTGAG XP_005267923.1:n.-136+117_-136+120delinsTGAG
NM_000021.4:c.-136+113_-136+116delinsTGAG MANE Select NP_000012.1:n.-136+113_-136+116delinsTGAG
NM_007318.3:c.-136+113_-136+116delinsTGAG NP_015557.2:n.-136+113_-136+116delinsTGAG