Canonical Allele Identifier: CA2569053116
Gene: PSEN1 HGNC NCBI

Linked Data

gnomAD v4: 14-73219067-TTGAG-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.73219069_73219072del , CM000676.2:g.73219069_73219072del GRCh38
NC_000014.8:g.73685777_73685780del , CM000676.1:g.73685777_73685780del GRCh37
NC_000014.7:g.72755530_72755533del NCBI36
NG_007386.2:g.87599_87602del

Transcript Alleles

HGVS Amino-acid change
ENST00000553599.6:c.1237-65_1237-62del ENSP00000452477.2:n.1237-65_1237-62del
ENST00000554131.6:c.1249-65_1249-62del ENSP00000451915.2:n.1249-65_1249-62del
ENST00000554995.2:n.1999-65_1999-62del
ENST00000555386.6:c.*204-65_*204-62del ENSP00000450845.1:n.*204-65_*204-62del
ENST00000556066.2:n.1675-65_1675-62del
ENST00000556951.6:c.1237-65_1237-62del ENSP00000450551.2:n.1237-65_1237-62del
ENST00000557293.6:c.1129-65_1129-62del ENSP00000451880.2:n.1129-65_1129-62del
ENST00000559361.6:c.*1193-65_*1193-62del ENSP00000454156.1:n.*1193-65_*1193-62del
ENST00000697912.1:c.*437-65_*437-62del ENSP00000513477.1:n.*437-65_*437-62del
ENST00000697913.1:n.6799-65_6799-62del
ENST00000697915.1:n.606-65_606-62del
ENST00000700265.1:c.1237-65_1237-62del ENSP00000514901.1:n.1237-65_1237-62del
ENST00000700266.1:c.*1461-65_*1461-62del ENSP00000514902.1:n.*1461-65_*1461-62del
ENST00000700267.1:c.1249-65_1249-62del ENSP00000514903.1:n.1249-65_1249-62del
ENST00000700268.1:c.1249-65_1249-62del ENSP00000514904.1:n.1249-65_1249-62del
ENST00000700269.1:c.1249-65_1249-62del ENSP00000514905.1:n.1249-65_1249-62del
ENST00000700271.1:c.1063-65_1063-62del ENSP00000514906.1:n.1063-65_1063-62del
ENST00000700272.1:c.*1193-65_*1193-62del ENSP00000514907.1:n.*1193-65_*1193-62del
ENST00000700273.1:c.1237-65_1237-62del ENSP00000514908.1:n.1237-65_1237-62del
ENST00000700302.1:c.*65-65_*65-62del ENSP00000514929.1:n.*65-65_*65-62del
ENST00000700303.1:c.*911-65_*911-62del ENSP00000514930.1:n.*911-65_*911-62del
ENST00000700304.1:c.*1193-65_*1193-62del ENSP00000514931.1:n.*1193-65_*1193-62del
ENST00000700305.1:c.*807-65_*807-62del ENSP00000514932.1:n.*807-65_*807-62del
ENST00000700306.1:c.1249-65_1249-62del ENSP00000514933.1:n.1249-65_1249-62del
ENST00000700307.1:c.1150-65_1150-62del ENSP00000514934.1:n.1150-65_1150-62del
ENST00000700308.1:c.*1193-65_*1193-62del ENSP00000514935.1:n.*1193-65_*1193-62del
ENST00000700309.1:c.*1338-65_*1338-62del ENSP00000514936.1:n.*1338-65_*1338-62del
ENST00000700310.1:c.*204-65_*204-62del ENSP00000514937.1:n.*204-65_*204-62del
ENST00000700311.1:c.*65-65_*65-62del ENSP00000514938.1:n.*65-65_*65-62del
ENST00000700312.1:c.1000-65_1000-62del ENSP00000514939.1:n.1000-65_1000-62del
ENST00000700313.1:c.1237-65_1237-62del ENSP00000514940.1:n.1237-65_1237-62del
ENST00000700314.1:c.*1188-65_*1188-62del ENSP00000514941.1:n.*1188-65_*1188-62del
ENST00000700315.1:c.*807-65_*807-62del ENSP00000514942.1:n.*807-65_*807-62del
ENST00000700316.1:c.*1029-65_*1029-62del ENSP00000514943.1:n.*1029-65_*1029-62del
ENST00000700317.1:c.1249-65_1249-62del ENSP00000514944.1:n.1249-65_1249-62del
ENST00000700318.1:c.*911-65_*911-62del ENSP00000514945.1:n.*911-65_*911-62del
ENST00000700319.1:c.*689-65_*689-62del ENSP00000514946.1:n.*689-65_*689-62del
ENST00000700320.1:c.1276-65_1276-62del ENSP00000514947.1:n.1276-65_1276-62del
ENST00000700321.1:c.1249-65_1249-62del ENSP00000514948.1:n.1249-65_1249-62del
ENST00000700322.1:c.1237-65_1237-62del ENSP00000514949.1:n.1237-65_1237-62del
ENST00000700323.1:c.1249-65_1249-62del ENSP00000514950.1:n.1249-65_1249-62del
ENST00000700324.1:c.1237-65_1237-62del ENSP00000514951.1:n.1237-65_1237-62del
ENST00000700375.1:c.1249-65_1249-62del ENSP00000514966.1:n.1249-65_1249-62del
ENST00000700377.1:c.*717-65_*717-62del ENSP00000514967.1:n.*717-65_*717-62del
ENST00000700378.1:c.1249-65_1249-62del ENSP00000514968.1:n.1249-65_1249-62del
ENST00000700379.1:n.1647-65_1647-62del
ENST00000700389.1:c.1237-65_1237-62del ENSP00000514970.1:n.1237-65_1237-62del
ENST00000700390.1:n.2960-65_2960-62del
ENST00000700391.1:n.460-65_460-62del
ENST00000700404.1:n.2248-65_2248-62del
ENST00000700436.1:c.*204-65_*204-62del ENSP00000514987.1:n.*204-65_*204-62del
ENST00000700437.1:c.1000-65_1000-62del ENSP00000514988.1:n.1000-65_1000-62del
ENST00000700468.1:c.1138-65_1138-62del ENSP00000515001.1:n.1138-65_1138-62del
ENST00000700469.1:c.1237-65_1237-62del ENSP00000515002.1:n.1237-65_1237-62del
ENST00000324501.10:c.1249-65_1249-62del MANE Select ENSP00000326366.5:n.1249-65_1249-62del
ENST00000324501.9:c.1249-65_1249-62del ENSP00000326366.5:n.1249-65_1249-62del
ENST00000357710.8:c.1237-65_1237-62del ENSP00000350342.4:n.1237-65_1237-62del
ENST00000394164.5:c.1237-65_1237-62del ENSP00000377719.1:n.1237-65_1237-62del
ENST00000406768.1:c.973-65_973-62del ENSP00000385948.1:n.973-65_973-62del
ENST00000555386.5:c.1329-65_1329-62del ENSP00000450845.1:n.1329-65_1329-62del
ENST00000555867.1:n.614-65_614-62del
ENST00000557511.5:c.1075-65_1075-62del ENSP00000451429.1:n.1075-65_1075-62del
NM_000021.3:c.1249-65_1249-62del NP_000012.1:n.1249-65_1249-62del
NM_007318.2:c.1237-65_1237-62del NP_015557.2:n.1237-65_1237-62del
XM_005267864.1:c.1249-65_1249-62del XP_005267921.1:n.1249-65_1249-62del
XM_005267866.1:c.1237-65_1237-62del XP_005267923.1:n.1237-65_1237-62del
XM_011536971.1:c.1249-65_1249-62del XP_011535273.1:n.1249-65_1249-62del
XM_011536972.1:c.1249-65_1249-62del XP_011535274.1:n.1249-65_1249-62del
XM_011536973.1:c.1237-65_1237-62del XP_011535275.1:n.1237-65_1237-62del
XM_011536974.1:c.1237-65_1237-62del XP_011535276.1:n.1237-65_1237-62del
XM_005267864.3:c.1249-65_1249-62del XP_005267921.1:n.1249-65_1249-62del
XM_005267866.2:c.1237-65_1237-62del XP_005267923.1:n.1237-65_1237-62del
XM_011536972.2:c.1249-65_1249-62del XP_011535274.1:n.1249-65_1249-62del
XM_011536973.2:c.1237-65_1237-62del XP_011535275.1:n.1237-65_1237-62del
XM_011536974.2:c.1237-65_1237-62del XP_011535276.1:n.1237-65_1237-62del
NM_000021.4:c.1249-65_1249-62del MANE Select NP_000012.1:n.1249-65_1249-62del
NM_007318.3:c.1237-65_1237-62del NP_015557.2:n.1237-65_1237-62del
Search 100 bp 5'
Search 100 bp 3'