Canonical Allele Identifier: CA708407768
Gene: PSEN1 HGNC NCBI

Linked Data

dbSNP Id: rs1366036610
gnomAD v3: 14-73173546-T-TTG
gnomAD v4: 14-73173546-T-TTG
MyVariant Identifiers: chr14:g.73640254_73640255insTG (hg19) chr14:g.73173546_73173547insTG (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.73173550_73173551dup , CM000676.2:g.73173550_73173551dup GRCh38
NC_000014.8:g.73640258_73640259dup , CM000676.1:g.73640258_73640259dup GRCh37
NC_000014.7:g.72710011_72710012dup NCBI36
NG_007386.2:g.42080_42081dup

Transcript Alleles

HGVS Amino-acid change
ENST00000553447.7:c.*283-16_*283-15dup ENSP00000514869.1:n.*283-16_*283-15dup
ENST00000553599.6:c.327-16_327-15dup ENSP00000452477.2:n.327-16_327-15dup
ENST00000554131.6:c.339-16_339-15dup ENSP00000451915.2:n.339-16_339-15dup
ENST00000555386.6:c.327-16_327-15dup ENSP00000450845.1:n.327-16_327-15dup
ENST00000556011.6:c.*283-16_*283-15dup ENSP00000451662.2:n.*283-16_*283-15dup
ENST00000556066.2:n.765-16_765-15dup
ENST00000556951.6:c.327-16_327-15dup ENSP00000450551.2:n.327-16_327-15dup
ENST00000557293.6:c.339-16_339-15dup ENSP00000451880.2:n.339-16_339-15dup
ENST00000559361.6:c.*283-16_*283-15dup ENSP00000454156.1:n.*283-16_*283-15dup
ENST00000697912.1:c.327-16_327-15dup ENSP00000513477.1:n.327-16_327-15dup
ENST00000697913.1:n.593-16_593-15dup
ENST00000700265.1:c.327-16_327-15dup ENSP00000514901.1:n.327-16_327-15dup
ENST00000700266.1:c.*428-16_*428-15dup ENSP00000514902.1:n.*428-16_*428-15dup
ENST00000700267.1:c.339-16_339-15dup ENSP00000514903.1:n.339-16_339-15dup
ENST00000700268.1:c.339-16_339-15dup ENSP00000514904.1:n.339-16_339-15dup
ENST00000700269.1:c.339-16_339-15dup ENSP00000514905.1:n.339-16_339-15dup
ENST00000700270.1:n.595-16_595-15dup
ENST00000700271.1:c.327-16_327-15dup ENSP00000514906.1:n.327-16_327-15dup
ENST00000700272.1:c.*283-16_*283-15dup ENSP00000514907.1:n.*283-16_*283-15dup
ENST00000700273.1:c.327-16_327-15dup ENSP00000514908.1:n.327-16_327-15dup
ENST00000700302.1:c.339-16_339-15dup ENSP00000514929.1:n.339-16_339-15dup
ENST00000700303.1:c.336_337dup ENSP00000514930.1:p.Phe113CysfsTer?
ENST00000700304.1:c.*283-16_*283-15dup ENSP00000514931.1:n.*283-16_*283-15dup
ENST00000700305.1:c.327-16_327-15dup ENSP00000514932.1:n.327-16_327-15dup
ENST00000700306.1:c.339-16_339-15dup ENSP00000514933.1:n.339-16_339-15dup
ENST00000700307.1:c.339-16_339-15dup ENSP00000514934.1:n.339-16_339-15dup
ENST00000700308.1:c.*283-16_*283-15dup ENSP00000514935.1:n.*283-16_*283-15dup
ENST00000700309.1:c.*428-16_*428-15dup ENSP00000514936.1:n.*428-16_*428-15dup
ENST00000700310.1:c.327-16_327-15dup ENSP00000514937.1:n.327-16_327-15dup
ENST00000700311.1:c.339-16_339-15dup ENSP00000514938.1:n.339-16_339-15dup
ENST00000700312.1:c.90-16_90-15dup ENSP00000514939.1:n.90-16_90-15dup
ENST00000700313.1:c.327-16_327-15dup ENSP00000514940.1:n.327-16_327-15dup
ENST00000700314.1:c.*278-16_*278-15dup ENSP00000514941.1:n.*278-16_*278-15dup
ENST00000700315.1:c.339-16_339-15dup ENSP00000514942.1:n.339-16_339-15dup
ENST00000700316.1:c.*119-16_*119-15dup ENSP00000514943.1:n.*119-16_*119-15dup
ENST00000700317.1:c.339-16_339-15dup ENSP00000514944.1:n.339-16_339-15dup
ENST00000700318.1:c.348_349dup ENSP00000514945.1:p.Phe117CysfsTer?
ENST00000700319.1:c.339-16_339-15dup ENSP00000514946.1:n.339-16_339-15dup
ENST00000700320.1:c.339-16_339-15dup ENSP00000514947.1:n.339-16_339-15dup
ENST00000700321.1:c.339-16_339-15dup ENSP00000514948.1:n.339-16_339-15dup
ENST00000700322.1:c.327-16_327-15dup ENSP00000514949.1:n.327-16_327-15dup
ENST00000700323.1:c.339-16_339-15dup ENSP00000514950.1:n.339-16_339-15dup
ENST00000700324.1:c.327-16_327-15dup ENSP00000514951.1:n.327-16_327-15dup
ENST00000700375.1:c.339-16_339-15dup ENSP00000514966.1:n.339-16_339-15dup
ENST00000700376.1:n.923-16_923-15dup
ENST00000700377.1:c.339-16_339-15dup ENSP00000514967.1:n.339-16_339-15dup
ENST00000700378.1:c.339-16_339-15dup ENSP00000514968.1:n.339-16_339-15dup
ENST00000700379.1:n.737-16_737-15dup
ENST00000700388.1:n.586-16_586-15dup
ENST00000700389.1:c.327-16_327-15dup ENSP00000514970.1:n.327-16_327-15dup
ENST00000700390.1:n.2050-16_2050-15dup
ENST00000700404.1:n.1222-16_1222-15dup
ENST00000700430.1:c.*283-16_*283-15dup ENSP00000514985.1:n.*283-16_*283-15dup
ENST00000700431.1:c.327-16_327-15dup ENSP00000514986.1:n.327-16_327-15dup
ENST00000700432.1:n.696-16_696-15dup
ENST00000700433.1:n.474-16_474-15dup
ENST00000700434.1:n.592-16_592-15dup
ENST00000700435.1:n.474-16_474-15dup
ENST00000700436.1:c.339-16_339-15dup ENSP00000514987.1:n.339-16_339-15dup
ENST00000700437.1:c.90-16_90-15dup ENSP00000514988.1:n.90-16_90-15dup
ENST00000700467.1:n.474-16_474-15dup
ENST00000700468.1:c.327-16_327-15dup ENSP00000515001.1:n.327-16_327-15dup
ENST00000700469.1:c.327-16_327-15dup ENSP00000515002.1:n.327-16_327-15dup
ENST00000324501.10:c.339-16_339-15dup MANE Select ENSP00000326366.5:n.339-16_339-15dup
ENST00000324501.9:c.339-16_339-15dup ENSP00000326366.5:n.339-16_339-15dup
ENST00000357710.8:c.327-16_327-15dup ENSP00000350342.4:n.327-16_327-15dup
ENST00000394157.7:c.339-16_339-15dup ENSP00000377712.3:n.339-16_339-15dup
ENST00000394164.5:c.327-16_327-15dup ENSP00000377719.1:n.327-16_327-15dup
ENST00000406768.1:c.63-16_63-15dup ENSP00000385948.1:n.63-16_63-15dup
ENST00000553719.5:c.327-16_327-15dup ENSP00000451674.1:n.327-16_327-15dup
ENST00000553855.5:c.339-16_339-15dup ENSP00000452242.1:n.339-16_339-15dup
ENST00000555254.5:c.339-16_339-15dup ENSP00000450652.1:n.339-16_339-15dup
ENST00000555386.5:c.327-16_327-15dup ENSP00000450845.1:n.327-16_327-15dup
ENST00000557356.5:c.327-16_327-15dup ENSP00000451498.1:n.327-16_327-15dup
ENST00000557511.5:c.339-16_339-15dup ENSP00000451429.1:n.339-16_339-15dup
ENST00000559361.5:c.*283-16_*283-15dup ENSP00000454156.1:n.*283-16_*283-15dup
NM_000021.3:c.339-16_339-15dup NP_000012.1:n.339-16_339-15dup
NM_007318.2:c.327-16_327-15dup NP_015557.2:n.327-16_327-15dup
XM_005267864.1:c.339-16_339-15dup XP_005267921.1:n.339-16_339-15dup
XM_005267866.1:c.327-16_327-15dup XP_005267923.1:n.327-16_327-15dup
XM_011536971.1:c.339-16_339-15dup XP_011535273.1:n.339-16_339-15dup
XM_011536972.1:c.339-16_339-15dup XP_011535274.1:n.339-16_339-15dup
XM_011536973.1:c.327-16_327-15dup XP_011535275.1:n.327-16_327-15dup
XM_011536974.1:c.327-16_327-15dup XP_011535276.1:n.327-16_327-15dup
XM_005267864.3:c.339-16_339-15dup XP_005267921.1:n.339-16_339-15dup
XM_005267866.2:c.327-16_327-15dup XP_005267923.1:n.327-16_327-15dup
XM_011536972.2:c.339-16_339-15dup XP_011535274.1:n.339-16_339-15dup
XM_011536973.2:c.327-16_327-15dup XP_011535275.1:n.327-16_327-15dup
XM_011536974.2:c.327-16_327-15dup XP_011535276.1:n.327-16_327-15dup
NM_000021.4:c.339-16_339-15dup MANE Select NP_000012.1:n.339-16_339-15dup
NM_007318.3:c.327-16_327-15dup NP_015557.2:n.327-16_327-15dup
Search 100 bp 5'
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