Canonical Allele Identifier: CA225189
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 98117
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
ENST00000553599.6:c.1306_1308del ENSP00000452477.2:p.Thr436del
ENST00000554131.6:c.1318_1320del ENSP00000451915.2:p.Thr440del
ENST00000554995.2:n.2068_2070del
ENST00000555386.6:c.*273_*275del ENSP00000450845.1:n.*273_*275del
ENST00000556066.2:n.1744_1746del
ENST00000556951.6:c.1306_1308del ENSP00000450551.2:p.Thr436del
ENST00000557293.6:c.1198_1200del ENSP00000451880.2:p.Thr400del
ENST00000559361.6:c.*1262_*1264del ENSP00000454156.1:n.*1262_*1264del
ENST00000697912.1:c.*506_*508del ENSP00000513477.1:n.*506_*508del
ENST00000697913.1:n.6868_6870del
ENST00000697915.1:n.675_677del
ENST00000700265.1:c.1306_1308del ENSP00000514901.1:p.Thr436del
ENST00000700266.1:c.*1530_*1532del ENSP00000514902.1:n.*1530_*1532del
ENST00000700267.1:c.1318_1320del ENSP00000514903.1:p.Thr440del
ENST00000700268.1:c.1318_1320del ENSP00000514904.1:p.Thr440del
ENST00000700269.1:c.1318_1320del ENSP00000514905.1:p.Thr440del
ENST00000700271.1:c.1132_1134del ENSP00000514906.1:p.Thr378del
ENST00000700272.1:c.*1262_*1264del ENSP00000514907.1:n.*1262_*1264del
ENST00000700273.1:c.1306_1308del ENSP00000514908.1:p.Thr436del
ENST00000700302.1:c.*134_*136del ENSP00000514929.1:n.*134_*136del
ENST00000700303.1:c.*980_*982del ENSP00000514930.1:n.*980_*982del
ENST00000700304.1:c.*1262_*1264del ENSP00000514931.1:n.*1262_*1264del
ENST00000700305.1:c.*876_*878del ENSP00000514932.1:n.*876_*878del
ENST00000700306.1:c.1318_1320del ENSP00000514933.1:p.Thr440del
ENST00000700307.1:c.1219_1221del ENSP00000514934.1:p.Thr407del
ENST00000700308.1:c.*1262_*1264del ENSP00000514935.1:n.*1262_*1264del
ENST00000700309.1:c.*1407_*1409del ENSP00000514936.1:n.*1407_*1409del
ENST00000700310.1:c.*273_*275del ENSP00000514937.1:n.*273_*275del
ENST00000700311.1:c.*134_*136del ENSP00000514938.1:n.*134_*136del
ENST00000700312.1:c.1069_1071del ENSP00000514939.1:p.Thr357del
ENST00000700313.1:c.1306_1308del ENSP00000514940.1:p.Thr436del
ENST00000700314.1:c.*1257_*1259del ENSP00000514941.1:n.*1257_*1259del
ENST00000700315.1:c.*876_*878del ENSP00000514942.1:n.*876_*878del
ENST00000700316.1:c.*1098_*1100del ENSP00000514943.1:n.*1098_*1100del
ENST00000700317.1:c.1318_1320del ENSP00000514944.1:p.Thr440del
ENST00000700318.1:c.*980_*982del ENSP00000514945.1:n.*980_*982del
ENST00000700319.1:c.*758_*760del ENSP00000514946.1:n.*758_*760del
ENST00000700320.1:c.1345_1347del ENSP00000514947.1:p.Thr449del
ENST00000700321.1:c.1318_1320del ENSP00000514948.1:p.Thr440del
ENST00000700322.1:c.1306_1308del ENSP00000514949.1:p.Thr436del
ENST00000700323.1:c.1318_1320del ENSP00000514950.1:p.Thr440del
ENST00000700324.1:c.1306_1308del ENSP00000514951.1:p.Thr436del
ENST00000700375.1:c.1318_1320del ENSP00000514966.1:p.Thr440del
ENST00000700377.1:c.*786_*788del ENSP00000514967.1:n.*786_*788del
ENST00000700378.1:c.1318_1320del ENSP00000514968.1:p.Thr440del
ENST00000700379.1:n.1716_1718del
ENST00000700389.1:c.1306_1308del ENSP00000514970.1:p.Thr436del
ENST00000700390.1:n.3029_3031del
ENST00000700391.1:n.529_531del
ENST00000700404.1:n.2317_2319del
ENST00000700436.1:c.*273_*275del ENSP00000514987.1:n.*273_*275del
ENST00000700437.1:c.1069_1071del ENSP00000514988.1:p.Thr357del
ENST00000700468.1:c.1207_1209del ENSP00000515001.1:p.Thr403del
ENST00000700469.1:c.1306_1308del ENSP00000515002.1:p.Thr436del
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:c.1398_1400del ENSP00000450845.1:n.1398_1400del
ENST00000555867.1:n.683_685del
ENST00000557511.5:c.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