Canonical Allele Identifier: CA2146469731
Gene: PSEN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.73171047_73171048delinsTG , CM000676.2:g.73171047_73171048delinsTG GRCh38
NC_000014.8:g.73637755_73637756delinsTG , CM000676.1:g.73637755_73637756delinsTG GRCh37
NC_000014.7:g.72707508_72707509delinsTG NCBI36
NG_007386.2:g.39577_39578delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000553447.7:c.*282_*282+1delinsTG
ENST00000553599.6:c.326_326+1delinsTG
ENST00000554131.6:c.338_338+1delinsTG
ENST00000555386.6:c.326_326+1delinsTG
ENST00000556011.6:c.*282_*282+1delinsTG
ENST00000556066.2:n.764_764+1delinsTG
ENST00000556951.6:c.326_326+1delinsTG
ENST00000557293.6:c.338_338+1delinsTG
ENST00000559361.6:c.*282_*282+1delinsTG
ENST00000697912.1:c.326_326+1delinsTG
ENST00000697913.1:n.592_592+1delinsTG
ENST00000697914.1:n.550_551delinsTG
ENST00000700265.1:c.326_326+1delinsTG
ENST00000700266.1:c.*427_*427+1delinsTG
ENST00000700267.1:c.338_338+1delinsTG
ENST00000700268.1:c.338_338+1delinsTG
ENST00000700269.1:c.338_338+1delinsTG
ENST00000700270.1:n.594_594+1delinsTG
ENST00000700271.1:c.326_326+1delinsTG
ENST00000700272.1:c.*282_*282+1delinsTG
ENST00000700273.1:c.326_326+1delinsTG
ENST00000700302.1:c.338_338+1delinsTG
ENST00000700303.1:c.326_326+1delinsTG
ENST00000700304.1:c.*282_*282+1delinsTG
ENST00000700305.1:c.326_326+1delinsTG
ENST00000700306.1:c.338_338+1delinsTG
ENST00000700307.1:c.338_338+1delinsTG
ENST00000700308.1:c.*282_*282+1delinsTG
ENST00000700309.1:c.*427_*427+1delinsTG
ENST00000700310.1:c.326_326+1delinsTG
ENST00000700311.1:c.338_338+1delinsTG
ENST00000700312.1:c.89_89+1delinsTG
ENST00000700313.1:c.326_326+1delinsTG
ENST00000700314.1:c.*277_*277+1delinsTG
ENST00000700315.1:c.338_338+1delinsTG
ENST00000700316.1:c.*118_*118+1delinsTG
ENST00000700317.1:c.338_338+1delinsTG
ENST00000700318.1:c.338_338+1delinsTG
ENST00000700319.1:c.338_338+1delinsTG
ENST00000700320.1:c.338_338+1delinsTG
ENST00000700321.1:c.338_338+1delinsTG
ENST00000700322.1:c.326_326+1delinsTG
ENST00000700323.1:c.338_338+1delinsTG
ENST00000700324.1:c.326_326+1delinsTG
ENST00000700375.1:c.338_338+1delinsTG
ENST00000700376.1:n.922_922+1delinsTG
ENST00000700377.1:c.338_338+1delinsTG
ENST00000700378.1:c.338_338+1delinsTG
ENST00000700379.1:n.736_736+1delinsTG
ENST00000700388.1:n.585_585+1delinsTG
ENST00000700389.1:c.326_326+1delinsTG
ENST00000700390.1:n.2049_2049+1delinsTG
ENST00000700404.1:n.1221_1221+1delinsTG
ENST00000700430.1:c.*282_*282+1delinsTG
ENST00000700431.1:c.326_326+1delinsTG
ENST00000700432.1:n.695_695+1delinsTG
ENST00000700433.1:n.473_473+1delinsTG
ENST00000700434.1:n.591_591+1delinsTG
ENST00000700435.1:n.473_473+1delinsTG
ENST00000700436.1:c.338_338+1delinsTG
ENST00000700437.1:c.89_89+1delinsTG
ENST00000700467.1:n.473_473+1delinsTG
ENST00000700468.1:c.326_326+1delinsTG
ENST00000700469.1:c.326_326+1delinsTG
ENST00000324501.10:c.338_338+1delinsTG
ENST00000324501.9:c.338_338+1delinsTG
ENST00000357710.8:c.326_326+1delinsTG
ENST00000394157.7:c.338_338+1delinsTG
ENST00000394164.5:c.326_326+1delinsTG
ENST00000406768.1:c.62_62+1delinsTG
ENST00000553719.5:c.326_326+1delinsTG
ENST00000553855.5:c.338_338+1delinsTG
ENST00000555254.5:c.338_338+1delinsTG
ENST00000555386.5:c.326_326+1delinsTG
ENST00000557356.5:c.326_326+1delinsTG
ENST00000557511.5:c.338_338+1delinsTG
ENST00000559361.5:c.*282_*282+1delinsTG
ENST00000560005.6:c.326_327delinsTG ENSP00000453466.1:p.Leu109=
NM_000021.3:c.338_338+1delinsTG
NM_007318.2:c.326_326+1delinsTG
XM_005267864.1:c.338_338+1delinsTG
XM_005267866.1:c.326_326+1delinsTG
XM_011536971.1:c.338_338+1delinsTG
XM_011536972.1:c.338_338+1delinsTG
XM_011536973.1:c.326_326+1delinsTG
XM_011536974.1:c.326_326+1delinsTG
XM_005267864.3:c.338_338+1delinsTG
XM_005267866.2:c.326_326+1delinsTG
XM_011536972.2:c.338_338+1delinsTG
XM_011536973.2:c.326_326+1delinsTG
XM_011536974.2:c.326_326+1delinsTG
NM_000021.4:c.338_338+1delinsTG
NM_007318.3:c.326_326+1delinsTG