Canonical Allele Identifier: CA233380
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 162429
ClinVar RCV Id: RCV000149806

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.73204762_73209316del , CM000676.2:g.73204762_73209316del GRCh38
NC_000014.8:g.73671470_73676024del , CM000676.1:g.73671470_73676024del GRCh37
NC_000014.7:g.72741223_72745777del NCBI36
NG_007386.2:g.73292_77846del

Transcript Alleles

HGVS Amino-acid change
ENST00000553599.6:c.857-1624_944-2453del
ENST00000554131.6:c.869-1624_956-2453del
ENST00000554995.2:n.1619-1624_1706-2453del
ENST00000555386.6:c.857-1624_1035+401del
ENST00000556066.2:n.1295-1624_1382-2453del
ENST00000556951.6:c.857-1624_944-2453del
ENST00000557293.6:c.749-1624_836-2453del
ENST00000559361.6:c.*813-1624_*900-2453del
ENST00000697912.1:c.857-1624_944-2453del
ENST00000697913.1:n.1123-1624_4053del
ENST00000700265.1:c.857-1624_944-2453del
ENST00000700266.1:c.*1081-1624_*1168-2453del
ENST00000700267.1:c.869-1624_956-2453del
ENST00000700268.1:c.869-1624_956-2453del
ENST00000700269.1:c.869-1624_956-2453del
ENST00000700271.1:c.857-1624_943+2844del
ENST00000700272.1:c.*813-1624_*900-2453del
ENST00000700273.1:c.857-1624_944-2453del
ENST00000700302.1:c.869-1624_956-2453del
ENST00000700303.1:c.*531-1624_*618-2453del
ENST00000700304.1:c.*813-1624_*900-2453del
ENST00000700305.1:c.*427-1624_*514-2453del
ENST00000700306.1:c.869-1624_956-2453del
ENST00000700307.1:c.770-1624_857-2453del
ENST00000700308.1:c.*813-1624_*900-2453del
ENST00000700309.1:c.*958-1624_*1045-2453del
ENST00000700310.1:c.758-1624_936+401del
ENST00000700311.1:c.869-1624_956-2453del
ENST00000700312.1:c.620-1624_707-2453del
ENST00000700313.1:c.857-1624_944-2453del
ENST00000700314.1:c.*808-1624_*895-2453del
ENST00000700315.1:c.*427-1624_*514-2453del
ENST00000700316.1:c.*649-1624_*736-2453del
ENST00000700317.1:c.869-1624_956-2453del
ENST00000700318.1:c.*531-1624_*618-2453del
ENST00000700319.1:c.*309-1624_*396-2453del
ENST00000700320.1:c.896-1624_983-2453del
ENST00000700321.1:c.869-1624_956-2453del
ENST00000700322.1:c.857-1624_944-2453del
ENST00000700323.1:c.869-1624_956-2453del
ENST00000700324.1:c.857-1624_944-2453del
ENST00000700375.1:c.869-1624_956-2453del
ENST00000700377.1:c.*337-1624_*424-2453del
ENST00000700378.1:c.869-1624_956-2453del
ENST00000700379.1:n.1267-1624_1354-2453del
ENST00000700389.1:c.857-1624_944-2453del
ENST00000700390.1:n.2580-1624_2667-2453del
ENST00000700404.1:n.1868-1624_1955-2453del
ENST00000700435.1:n.1004-1624_1091-2453del
ENST00000700436.1:c.869-1624_1047+401del
ENST00000700437.1:c.620-1624_707-2453del
ENST00000700468.1:c.758-1624_845-2453del
ENST00000700469.1:c.857-1624_944-2453del
ENST00000324501.10:c.869-1624_956-2453del
ENST00000324501.9:c.869-1624_956-2453del
ENST00000357710.8:c.857-1624_944-2453del
ENST00000394164.5:c.857-1624_944-2453del
ENST00000406768.1:c.593-1624_680-2453del
ENST00000553855.5:c.869-1624_1047+401del
ENST00000554995.1:n.421-1624_508-2453del
ENST00000555386.5:c.857-1624_1035+401del
ENST00000557511.5:c.869-1624_955+2844del
NM_000021.3:c.869-1624_956-2453del
NM_007318.2:c.857-1624_944-2453del
XM_005267864.1:c.869-1624_956-2453del
XM_005267866.1:c.857-1624_944-2453del
XM_011536971.1:c.869-1624_956-2453del
XM_011536972.1:c.869-1624_956-2453del
XM_011536973.1:c.857-1624_944-2453del
XM_011536974.1:c.857-1624_944-2453del
XM_005267864.3:c.869-1624_956-2453del
XM_005267866.2:c.857-1624_944-2453del
XM_011536972.2:c.869-1624_956-2453del
XM_011536973.2:c.857-1624_944-2453del
XM_011536974.2:c.857-1624_944-2453del
NM_000021.4:c.869-1624_956-2453del
NM_007318.3:c.857-1624_944-2453del