Canonical Allele Identifier: CA645594812

Gene: PSEN1

Linked Data

• COSMIC: COSM4564528

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
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:n.1329-1_1329delinsAA
ENST00000555867.1:n.614-1_614delinsAA
ENST00000557511.5:n.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