Canonical Allele Identifier: CA233379

Gene: PSEN1

Linked Data

• ClinVar Variation Id: 162428
• ClinVar RCV Id: RCV000149805
• MyVariant Identifiers: chr14:g.73671094_73676951del (hg19) ; chr14:g.73204386_73210243del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73204386_73210243del , CM000676.2:g.73204386_73210243del	GRCh38
NC_000014.8:g.73671094_73676951del , CM000676.1:g.73671094_73676951del	GRCh37
NC_000014.7:g.72740847_72746704del	NCBI36
NG_007386.2:g.72916_78773del

Transcript Alleles

HGVS	Amino-acid change
ENST00000553599.6:c.857-2000_944-1526del
ENST00000554131.6:c.869-2000_956-1526del
ENST00000554995.2:n.1619-2000_1706-1526del
ENST00000555386.6:c.857-2000_1035+1328del
ENST00000556066.2:n.1295-2000_1382-1526del
ENST00000556951.6:c.857-2000_944-1526del
ENST00000557293.6:c.749-2000_836-1526del
ENST00000559361.6:c.*813-2000_*900-1526del
ENST00000697912.1:c.857-2000_944-1526del
ENST00000697913.1:n.1123-2000_4980del
ENST00000700265.1:c.857-2000_944-1526del
ENST00000700266.1:c.*1081-2000_*1168-1526del
ENST00000700267.1:c.869-2000_956-1526del
ENST00000700268.1:c.869-2000_956-1526del
ENST00000700269.1:c.869-2000_956-1526del
ENST00000700271.1:c.857-2000_943+3771del
ENST00000700272.1:c.*813-2000_*900-1526del
ENST00000700273.1:c.857-2000_944-1526del
ENST00000700302.1:c.869-2000_956-1526del
ENST00000700303.1:c.*531-2000_*618-1526del
ENST00000700304.1:c.*813-2000_*900-1526del
ENST00000700305.1:c.*427-2000_*514-1526del
ENST00000700306.1:c.869-2000_956-1526del
ENST00000700307.1:c.770-2000_857-1526del
ENST00000700308.1:c.*813-2000_*900-1526del
ENST00000700309.1:c.*958-2000_*1045-1526del
ENST00000700310.1:c.758-2000_936+1328del
ENST00000700311.1:c.869-2000_956-1526del
ENST00000700312.1:c.620-2000_707-1526del
ENST00000700313.1:c.857-2000_944-1526del
ENST00000700314.1:c.*808-2000_*895-1526del
ENST00000700315.1:c.*427-2000_*514-1526del
ENST00000700316.1:c.*649-2000_*736-1526del
ENST00000700317.1:c.869-2000_956-1526del
ENST00000700318.1:c.*531-2000_*618-1526del
ENST00000700319.1:c.*309-2000_*396-1526del
ENST00000700320.1:c.896-2000_983-1526del
ENST00000700321.1:c.869-2000_956-1526del
ENST00000700322.1:c.857-2000_944-1526del
ENST00000700323.1:c.869-2000_956-1526del
ENST00000700324.1:c.857-2000_944-1526del
ENST00000700375.1:c.869-2000_956-1526del
ENST00000700377.1:c.*337-2000_*424-1526del
ENST00000700378.1:c.869-2000_956-1526del
ENST00000700379.1:n.1267-2000_1354-1526del
ENST00000700389.1:c.857-2000_944-1526del
ENST00000700390.1:n.2580-2000_2667-1526del
ENST00000700404.1:n.1868-2000_1955-1526del
ENST00000700435.1:n.1004-2000_1091-1526del
ENST00000700436.1:c.869-2000_1047+1328del
ENST00000700437.1:c.620-2000_707-1526del
ENST00000700468.1:c.758-2000_845-1526del
ENST00000700469.1:c.857-2000_944-1526del
ENST00000324501.10:c.869-2000_956-1526del
ENST00000324501.9:c.869-2000_956-1526del
ENST00000357710.8:c.857-2000_944-1526del
ENST00000394164.5:c.857-2000_944-1526del
ENST00000406768.1:c.593-2000_680-1526del
ENST00000553855.5:c.869-2000_1047+1328del
ENST00000554995.1:n.421-2000_508-1526del
ENST00000555386.5:c.857-2000_1035+1328del
ENST00000557511.5:c.869-2000_955+3771del
NM_000021.3:c.869-2000_956-1526del
NM_007318.2:c.857-2000_944-1526del
XM_005267864.1:c.869-2000_956-1526del
XM_005267866.1:c.857-2000_944-1526del
XM_011536971.1:c.869-2000_956-1526del
XM_011536972.1:c.869-2000_956-1526del
XM_011536973.1:c.857-2000_944-1526del
XM_011536974.1:c.857-2000_944-1526del
XM_005267864.3:c.869-2000_956-1526del
XM_005267866.2:c.857-2000_944-1526del
XM_011536972.2:c.869-2000_956-1526del
XM_011536973.2:c.857-2000_944-1526del
XM_011536974.2:c.857-2000_944-1526del
NM_000021.4:c.869-2000_956-1526del
NM_007318.3:c.857-2000_944-1526del