Canonical Allele Identifier: CA225189
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 98117
ClinVar RCV Id: RCV000084416
dbSNP Id: rs63750470

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.73219203_73219205del , CM000676.2:g.73219203_73219205del GRCh38
NC_000014.8:g.73685911_73685913del , CM000676.1:g.73685911_73685913del GRCh37
NC_000014.7:g.72755664_72755666del NCBI36
NG_007386.2:g.87733_87735del

Transcript Alleles

HGVS Amino-acid change
ENST00000324501.10:c.1318_1320del MANE Select ENSP00000326366.5:p.Thr440del
ENST00000324501.9:c.1318_1320del ENSP00000326366.5:p.Thr440del
ENST00000357710.8:c.1306_1308del ENSP00000350342.4:p.Thr436del
ENST00000394164.5:c.1306_1308del ENSP00000377719.1:p.Thr436del
ENST00000406768.1:c.1042_1044del ENSP00000385948.1:p.Thr348del
ENST00000555386.5:n.1398_1400del ENSP00000450845.1:n.1398_1400del
ENST00000555867.1:n.683_685del
ENST00000557511.5:n.1144_1146del ENSP00000451429.1:p.Thr382del
NM_000021.3:c.1318_1320del NP_000012.1:p.Thr440del
NM_007318.2:c.1306_1308del NP_015557.2:p.Thr436del
XM_005267864.1:c.1318_1320del XP_005267921.1:p.Thr440del
XM_005267866.1:c.1306_1308del XP_005267923.1:p.Thr436del
XM_011536971.1:c.1318_1320del XP_011535273.1:p.Thr440del
XM_011536972.1:c.1318_1320del XP_011535274.1:p.Thr440del
XM_011536973.1:c.1306_1308del XP_011535275.1:p.Thr436del
XM_011536974.1:c.1306_1308del XP_011535276.1:p.Thr436del
XM_005267864.3:c.1318_1320del XP_005267921.1:p.Thr440del
XM_005267866.2:c.1306_1308del XP_005267923.1:p.Thr436del
XM_011536972.2:c.1318_1320del XP_011535274.1:p.Thr440del
XM_011536973.2:c.1306_1308del XP_011535275.1:p.Thr436del
XM_011536974.2:c.1306_1308del XP_011535276.1:p.Thr436del
NM_000021.4:c.1318_1320del MANE Select NP_000012.1:p.Thr440del
NM_007318.3:c.1306_1308del NP_015557.2:p.Thr436del