Canonical Allele Identifier: CA645594812
Gene: PSEN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.73219133_73219134delinsAA , CM000676.2:g.73219133_73219134delinsAA GRCh38
NC_000014.8:g.73685841_73685842delinsAA , CM000676.1:g.73685841_73685842delinsAA GRCh37
NC_000014.7:g.72755594_72755595delinsAA NCBI36
NG_007386.2:g.87663_87664delinsAA

Transcript Alleles

HGVS Amino-acid change
ENST00000553599.6:c.1237-1_1237delinsAA
ENST00000554131.6:c.1249-1_1249delinsAA
ENST00000554995.2:n.1999-1_1999delinsAA
ENST00000555386.6:c.*204-1_*204delinsAA
ENST00000556066.2:n.1675-1_1675delinsAA
ENST00000556951.6:c.1237-1_1237delinsAA
ENST00000557293.6:c.1129-1_1129delinsAA
ENST00000559361.6:c.*1193-1_*1193delinsAA
ENST00000697912.1:c.*437-1_*437delinsAA
ENST00000697913.1:n.6799-1_6799delinsAA
ENST00000697915.1:n.606-1_606delinsAA
ENST00000700265.1:c.1237-1_1237delinsAA
ENST00000700266.1:c.*1461-1_*1461delinsAA
ENST00000700267.1:c.1249-1_1249delinsAA
ENST00000700268.1:c.1249-1_1249delinsAA
ENST00000700269.1:c.1249-1_1249delinsAA
ENST00000700271.1:c.1063-1_1063delinsAA
ENST00000700272.1:c.*1193-1_*1193delinsAA
ENST00000700273.1:c.1237-1_1237delinsAA
ENST00000700302.1:c.*65-1_*65delinsAA
ENST00000700303.1:c.*911-1_*911delinsAA
ENST00000700304.1:c.*1193-1_*1193delinsAA
ENST00000700305.1:c.*807-1_*807delinsAA
ENST00000700306.1:c.1249-1_1249delinsAA
ENST00000700307.1:c.1150-1_1150delinsAA
ENST00000700308.1:c.*1193-1_*1193delinsAA
ENST00000700309.1:c.*1338-1_*1338delinsAA
ENST00000700310.1:c.*204-1_*204delinsAA
ENST00000700311.1:c.*65-1_*65delinsAA
ENST00000700312.1:c.1000-1_1000delinsAA
ENST00000700313.1:c.1237-1_1237delinsAA
ENST00000700314.1:c.*1188-1_*1188delinsAA
ENST00000700315.1:c.*807-1_*807delinsAA
ENST00000700316.1:c.*1029-1_*1029delinsAA
ENST00000700317.1:c.1249-1_1249delinsAA
ENST00000700318.1:c.*911-1_*911delinsAA
ENST00000700319.1:c.*689-1_*689delinsAA
ENST00000700320.1:c.1276-1_1276delinsAA
ENST00000700321.1:c.1249-1_1249delinsAA
ENST00000700322.1:c.1237-1_1237delinsAA
ENST00000700323.1:c.1249-1_1249delinsAA
ENST00000700324.1:c.1237-1_1237delinsAA
ENST00000700375.1:c.1249-1_1249delinsAA
ENST00000700377.1:c.*717-1_*717delinsAA
ENST00000700378.1:c.1249-1_1249delinsAA
ENST00000700379.1:n.1647-1_1647delinsAA
ENST00000700389.1:c.1237-1_1237delinsAA
ENST00000700390.1:n.2960-1_2960delinsAA
ENST00000700391.1:n.460-1_460delinsAA
ENST00000700404.1:n.2248-1_2248delinsAA
ENST00000700436.1:c.*204-1_*204delinsAA
ENST00000700437.1:c.1000-1_1000delinsAA
ENST00000700468.1:c.1138-1_1138delinsAA
ENST00000700469.1:c.1237-1_1237delinsAA
ENST00000324501.10:c.1249-1_1249delinsAA
ENST00000324501.9:c.1249-1_1249delinsAA
ENST00000357710.8:c.1237-1_1237delinsAA
ENST00000394164.5:c.1237-1_1237delinsAA
ENST00000406768.1:c.973-1_973delinsAA
ENST00000555386.5:c.1329-1_1329delinsAA
ENST00000555867.1:n.614-1_614delinsAA
ENST00000557511.5:c.1075-1_1075delinsAA
NM_000021.3:c.1249-1_1249delinsAA
NM_007318.2:c.1237-1_1237delinsAA
XM_005267864.1:c.1249-1_1249delinsAA
XM_005267866.1:c.1237-1_1237delinsAA
XM_011536971.1:c.1249-1_1249delinsAA
XM_011536972.1:c.1249-1_1249delinsAA
XM_011536973.1:c.1237-1_1237delinsAA
XM_011536974.1:c.1237-1_1237delinsAA
XM_005267864.3:c.1249-1_1249delinsAA
XM_005267866.2:c.1237-1_1237delinsAA
XM_011536972.2:c.1249-1_1249delinsAA
XM_011536973.2:c.1237-1_1237delinsAA
XM_011536974.2:c.1237-1_1237delinsAA
NM_000021.4:c.1249-1_1249delinsAA
NM_007318.3:c.1237-1_1237delinsAA