Canonical Allele Identifier: CA2997110810
Gene: PSEN1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.73219061_73219062del , CM000676.2:g.73219061_73219062del GRCh38
NC_000014.8:g.73685769_73685770del , CM000676.1:g.73685769_73685770del GRCh37
NC_000014.7:g.72755522_72755523del NCBI36
NG_007386.2:g.87591_87592del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553599.6:c.1237-73_1237-72del ENSP00000452477.2:n.1237-73_1237-72del
ENST00000554131.6:c.1249-73_1249-72del ENSP00000451915.2:n.1249-73_1249-72del
ENST00000554995.2:n.1999-73_1999-72del
ENST00000555386.6:c.*204-73_*204-72del ENSP00000450845.1:n.*204-73_*204-72del
ENST00000556066.2:n.1675-73_1675-72del
ENST00000556951.6:c.1237-73_1237-72del ENSP00000450551.2:n.1237-73_1237-72del
ENST00000557293.6:c.1129-73_1129-72del ENSP00000451880.2:n.1129-73_1129-72del
ENST00000559361.6:c.*1193-73_*1193-72del ENSP00000454156.1:n.*1193-73_*1193-72del
ENST00000697912.1:c.*437-73_*437-72del ENSP00000513477.1:n.*437-73_*437-72del
ENST00000697913.1:n.6799-73_6799-72del
ENST00000697915.1:n.606-73_606-72del
ENST00000700265.1:c.1237-73_1237-72del ENSP00000514901.1:n.1237-73_1237-72del
ENST00000700266.1:c.*1461-73_*1461-72del ENSP00000514902.1:n.*1461-73_*1461-72del
ENST00000700267.1:c.1249-73_1249-72del ENSP00000514903.1:n.1249-73_1249-72del
ENST00000700268.1:c.1249-73_1249-72del ENSP00000514904.1:n.1249-73_1249-72del
ENST00000700269.1:c.1249-73_1249-72del ENSP00000514905.1:n.1249-73_1249-72del
ENST00000700271.1:c.1063-73_1063-72del ENSP00000514906.1:n.1063-73_1063-72del
ENST00000700272.1:c.*1193-73_*1193-72del ENSP00000514907.1:n.*1193-73_*1193-72del
ENST00000700273.1:c.1237-73_1237-72del ENSP00000514908.1:n.1237-73_1237-72del
ENST00000700302.1:c.*65-73_*65-72del ENSP00000514929.1:n.*65-73_*65-72del
ENST00000700303.1:c.*911-73_*911-72del ENSP00000514930.1:n.*911-73_*911-72del
ENST00000700304.1:c.*1193-73_*1193-72del ENSP00000514931.1:n.*1193-73_*1193-72del
ENST00000700305.1:c.*807-73_*807-72del ENSP00000514932.1:n.*807-73_*807-72del
ENST00000700306.1:c.1249-73_1249-72del ENSP00000514933.1:n.1249-73_1249-72del
ENST00000700307.1:c.1150-73_1150-72del ENSP00000514934.1:n.1150-73_1150-72del
ENST00000700308.1:c.*1193-73_*1193-72del ENSP00000514935.1:n.*1193-73_*1193-72del
ENST00000700309.1:c.*1338-73_*1338-72del ENSP00000514936.1:n.*1338-73_*1338-72del
ENST00000700310.1:c.*204-73_*204-72del ENSP00000514937.1:n.*204-73_*204-72del
ENST00000700311.1:c.*65-73_*65-72del ENSP00000514938.1:n.*65-73_*65-72del
ENST00000700312.1:c.1000-73_1000-72del ENSP00000514939.1:n.1000-73_1000-72del
ENST00000700313.1:c.1237-73_1237-72del ENSP00000514940.1:n.1237-73_1237-72del
ENST00000700314.1:c.*1188-73_*1188-72del ENSP00000514941.1:n.*1188-73_*1188-72del
ENST00000700315.1:c.*807-73_*807-72del ENSP00000514942.1:n.*807-73_*807-72del
ENST00000700316.1:c.*1029-73_*1029-72del ENSP00000514943.1:n.*1029-73_*1029-72del
ENST00000700317.1:c.1249-73_1249-72del ENSP00000514944.1:n.1249-73_1249-72del
ENST00000700318.1:c.*911-73_*911-72del ENSP00000514945.1:n.*911-73_*911-72del
ENST00000700319.1:c.*689-73_*689-72del ENSP00000514946.1:n.*689-73_*689-72del
ENST00000700320.1:c.1276-73_1276-72del ENSP00000514947.1:n.1276-73_1276-72del
ENST00000700321.1:c.1249-73_1249-72del ENSP00000514948.1:n.1249-73_1249-72del
ENST00000700322.1:c.1237-73_1237-72del ENSP00000514949.1:n.1237-73_1237-72del
ENST00000700323.1:c.1249-73_1249-72del ENSP00000514950.1:n.1249-73_1249-72del
ENST00000700324.1:c.1237-73_1237-72del ENSP00000514951.1:n.1237-73_1237-72del
ENST00000700375.1:c.1249-73_1249-72del ENSP00000514966.1:n.1249-73_1249-72del
ENST00000700377.1:c.*717-73_*717-72del ENSP00000514967.1:n.*717-73_*717-72del
ENST00000700378.1:c.1249-73_1249-72del ENSP00000514968.1:n.1249-73_1249-72del
ENST00000700379.1:n.1647-73_1647-72del
ENST00000700389.1:c.1237-73_1237-72del ENSP00000514970.1:n.1237-73_1237-72del
ENST00000700390.1:n.2960-73_2960-72del
ENST00000700391.1:n.460-73_460-72del
ENST00000700404.1:n.2248-73_2248-72del
ENST00000700436.1:c.*204-73_*204-72del ENSP00000514987.1:n.*204-73_*204-72del
ENST00000700437.1:c.1000-73_1000-72del ENSP00000514988.1:n.1000-73_1000-72del
ENST00000700468.1:c.1138-73_1138-72del ENSP00000515001.1:n.1138-73_1138-72del
ENST00000700469.1:c.1237-73_1237-72del ENSP00000515002.1:n.1237-73_1237-72del
ENST00000324501.10:c.1249-73_1249-72del MANE Select ENSP00000326366.5:n.1249-73_1249-72del
ENST00000324501.9:c.1249-73_1249-72del ENSP00000326366.5:n.1249-73_1249-72del
ENST00000357710.8:c.1237-73_1237-72del ENSP00000350342.4:n.1237-73_1237-72del
ENST00000394164.5:c.1237-73_1237-72del ENSP00000377719.1:n.1237-73_1237-72del
ENST00000406768.1:c.973-73_973-72del ENSP00000385948.1:n.973-73_973-72del
ENST00000555386.5:c.1329-73_1329-72del ENSP00000450845.1:n.1329-73_1329-72del
ENST00000555867.1:n.614-73_614-72del
ENST00000557511.5:c.1075-73_1075-72del ENSP00000451429.1:n.1075-73_1075-72del
NM_000021.3:c.1249-73_1249-72del NP_000012.1:n.1249-73_1249-72del
NM_007318.2:c.1237-73_1237-72del NP_015557.2:n.1237-73_1237-72del
XM_005267864.1:c.1249-73_1249-72del XP_005267921.1:n.1249-73_1249-72del
XM_005267866.1:c.1237-73_1237-72del XP_005267923.1:n.1237-73_1237-72del
XM_011536971.1:c.1249-73_1249-72del XP_011535273.1:n.1249-73_1249-72del
XM_011536972.1:c.1249-73_1249-72del XP_011535274.1:n.1249-73_1249-72del
XM_011536973.1:c.1237-73_1237-72del XP_011535275.1:n.1237-73_1237-72del
XM_011536974.1:c.1237-73_1237-72del XP_011535276.1:n.1237-73_1237-72del
XM_005267864.3:c.1249-73_1249-72del XP_005267921.1:n.1249-73_1249-72del
XM_005267866.2:c.1237-73_1237-72del XP_005267923.1:n.1237-73_1237-72del
XM_011536972.2:c.1249-73_1249-72del XP_011535274.1:n.1249-73_1249-72del
XM_011536973.2:c.1237-73_1237-72del XP_011535275.1:n.1237-73_1237-72del
XM_011536974.2:c.1237-73_1237-72del XP_011535276.1:n.1237-73_1237-72del
NM_000021.4:c.1249-73_1249-72del MANE Select NP_000012.1:n.1249-73_1249-72del
NM_007318.3:c.1237-73_1237-72del NP_015557.2:n.1237-73_1237-72del
Search 100 bp 5'
Search 100 bp 3'