Canonical Allele Identifier: CA2625561782
Gene: PSEN1 HGNC NCBI

Linked Data

gnomAD v4: 14-73219042-CTA-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.73219044_73219045del , CM000676.2:g.73219044_73219045del GRCh38
NC_000014.8:g.73685752_73685753del , CM000676.1:g.73685752_73685753del GRCh37
NC_000014.7:g.72755505_72755506del NCBI36
NG_007386.2:g.87574_87575del

Transcript Alleles

HGVS Amino-acid change
ENST00000553599.6:c.1237-90_1237-89del ENSP00000452477.2:n.1237-90_1237-89del
ENST00000554131.6:c.1249-90_1249-89del ENSP00000451915.2:n.1249-90_1249-89del
ENST00000554995.2:n.1999-90_1999-89del
ENST00000555386.6:c.*204-90_*204-89del ENSP00000450845.1:n.*204-90_*204-89del
ENST00000556066.2:n.1675-90_1675-89del
ENST00000556951.6:c.1237-90_1237-89del ENSP00000450551.2:n.1237-90_1237-89del
ENST00000557293.6:c.1129-90_1129-89del ENSP00000451880.2:n.1129-90_1129-89del
ENST00000559361.6:c.*1193-90_*1193-89del ENSP00000454156.1:n.*1193-90_*1193-89del
ENST00000697912.1:c.*437-90_*437-89del ENSP00000513477.1:n.*437-90_*437-89del
ENST00000697913.1:n.6799-90_6799-89del
ENST00000697915.1:n.606-90_606-89del
ENST00000700265.1:c.1237-90_1237-89del ENSP00000514901.1:n.1237-90_1237-89del
ENST00000700266.1:c.*1461-90_*1461-89del ENSP00000514902.1:n.*1461-90_*1461-89del
ENST00000700267.1:c.1249-90_1249-89del ENSP00000514903.1:n.1249-90_1249-89del
ENST00000700268.1:c.1249-90_1249-89del ENSP00000514904.1:n.1249-90_1249-89del
ENST00000700269.1:c.1249-90_1249-89del ENSP00000514905.1:n.1249-90_1249-89del
ENST00000700271.1:c.1063-90_1063-89del ENSP00000514906.1:n.1063-90_1063-89del
ENST00000700272.1:c.*1193-90_*1193-89del ENSP00000514907.1:n.*1193-90_*1193-89del
ENST00000700273.1:c.1237-90_1237-89del ENSP00000514908.1:n.1237-90_1237-89del
ENST00000700302.1:c.*65-90_*65-89del ENSP00000514929.1:n.*65-90_*65-89del
ENST00000700303.1:c.*911-90_*911-89del ENSP00000514930.1:n.*911-90_*911-89del
ENST00000700304.1:c.*1193-90_*1193-89del ENSP00000514931.1:n.*1193-90_*1193-89del
ENST00000700305.1:c.*807-90_*807-89del ENSP00000514932.1:n.*807-90_*807-89del
ENST00000700306.1:c.1249-90_1249-89del ENSP00000514933.1:n.1249-90_1249-89del
ENST00000700307.1:c.1150-90_1150-89del ENSP00000514934.1:n.1150-90_1150-89del
ENST00000700308.1:c.*1193-90_*1193-89del ENSP00000514935.1:n.*1193-90_*1193-89del
ENST00000700309.1:c.*1338-90_*1338-89del ENSP00000514936.1:n.*1338-90_*1338-89del
ENST00000700310.1:c.*204-90_*204-89del ENSP00000514937.1:n.*204-90_*204-89del
ENST00000700311.1:c.*65-90_*65-89del ENSP00000514938.1:n.*65-90_*65-89del
ENST00000700312.1:c.1000-90_1000-89del ENSP00000514939.1:n.1000-90_1000-89del
ENST00000700313.1:c.1237-90_1237-89del ENSP00000514940.1:n.1237-90_1237-89del
ENST00000700314.1:c.*1188-90_*1188-89del ENSP00000514941.1:n.*1188-90_*1188-89del
ENST00000700315.1:c.*807-90_*807-89del ENSP00000514942.1:n.*807-90_*807-89del
ENST00000700316.1:c.*1029-90_*1029-89del ENSP00000514943.1:n.*1029-90_*1029-89del
ENST00000700317.1:c.1249-90_1249-89del ENSP00000514944.1:n.1249-90_1249-89del
ENST00000700318.1:c.*911-90_*911-89del ENSP00000514945.1:n.*911-90_*911-89del
ENST00000700319.1:c.*689-90_*689-89del ENSP00000514946.1:n.*689-90_*689-89del
ENST00000700320.1:c.1276-90_1276-89del ENSP00000514947.1:n.1276-90_1276-89del
ENST00000700321.1:c.1249-90_1249-89del ENSP00000514948.1:n.1249-90_1249-89del
ENST00000700322.1:c.1237-90_1237-89del ENSP00000514949.1:n.1237-90_1237-89del
ENST00000700323.1:c.1249-90_1249-89del ENSP00000514950.1:n.1249-90_1249-89del
ENST00000700324.1:c.1237-90_1237-89del ENSP00000514951.1:n.1237-90_1237-89del
ENST00000700375.1:c.1249-90_1249-89del ENSP00000514966.1:n.1249-90_1249-89del
ENST00000700377.1:c.*717-90_*717-89del ENSP00000514967.1:n.*717-90_*717-89del
ENST00000700378.1:c.1249-90_1249-89del ENSP00000514968.1:n.1249-90_1249-89del
ENST00000700379.1:n.1647-90_1647-89del
ENST00000700389.1:c.1237-90_1237-89del ENSP00000514970.1:n.1237-90_1237-89del
ENST00000700390.1:n.2960-90_2960-89del
ENST00000700391.1:n.460-90_460-89del
ENST00000700404.1:n.2248-90_2248-89del
ENST00000700436.1:c.*204-90_*204-89del ENSP00000514987.1:n.*204-90_*204-89del
ENST00000700437.1:c.1000-90_1000-89del ENSP00000514988.1:n.1000-90_1000-89del
ENST00000700468.1:c.1138-90_1138-89del ENSP00000515001.1:n.1138-90_1138-89del
ENST00000700469.1:c.1237-90_1237-89del ENSP00000515002.1:n.1237-90_1237-89del
ENST00000324501.10:c.1249-90_1249-89del MANE Select ENSP00000326366.5:n.1249-90_1249-89del
ENST00000324501.9:c.1249-90_1249-89del ENSP00000326366.5:n.1249-90_1249-89del
ENST00000357710.8:c.1237-90_1237-89del ENSP00000350342.4:n.1237-90_1237-89del
ENST00000394164.5:c.1237-90_1237-89del ENSP00000377719.1:n.1237-90_1237-89del
ENST00000406768.1:c.973-90_973-89del ENSP00000385948.1:n.973-90_973-89del
ENST00000555386.5:c.1329-90_1329-89del ENSP00000450845.1:n.1329-90_1329-89del
ENST00000555867.1:n.614-90_614-89del
ENST00000557511.5:c.1075-90_1075-89del ENSP00000451429.1:n.1075-90_1075-89del
NM_000021.3:c.1249-90_1249-89del NP_000012.1:n.1249-90_1249-89del
NM_007318.2:c.1237-90_1237-89del NP_015557.2:n.1237-90_1237-89del
XM_005267864.1:c.1249-90_1249-89del XP_005267921.1:n.1249-90_1249-89del
XM_005267866.1:c.1237-90_1237-89del XP_005267923.1:n.1237-90_1237-89del
XM_011536971.1:c.1249-90_1249-89del XP_011535273.1:n.1249-90_1249-89del
XM_011536972.1:c.1249-90_1249-89del XP_011535274.1:n.1249-90_1249-89del
XM_011536973.1:c.1237-90_1237-89del XP_011535275.1:n.1237-90_1237-89del
XM_011536974.1:c.1237-90_1237-89del XP_011535276.1:n.1237-90_1237-89del
XM_005267864.3:c.1249-90_1249-89del XP_005267921.1:n.1249-90_1249-89del
XM_005267866.2:c.1237-90_1237-89del XP_005267923.1:n.1237-90_1237-89del
XM_011536972.2:c.1249-90_1249-89del XP_011535274.1:n.1249-90_1249-89del
XM_011536973.2:c.1237-90_1237-89del XP_011535275.1:n.1237-90_1237-89del
XM_011536974.2:c.1237-90_1237-89del XP_011535276.1:n.1237-90_1237-89del
NM_000021.4:c.1249-90_1249-89del MANE Select NP_000012.1:n.1249-90_1249-89del
NM_007318.3:c.1237-90_1237-89del NP_015557.2:n.1237-90_1237-89del
Search 100 bp 5'
Search 100 bp 3'