Canonical Allele Identifier: CA2695219539
Gene: PSEN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.73186873_73186875dup , CM000676.2:g.73186873_73186875dup GRCh38
NC_000014.8:g.73653581_73653583dup , CM000676.1:g.73653581_73653583dup GRCh37
NC_000014.7:g.72723334_72723336dup NCBI36
NG_007386.2:g.55403_55405dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000553599.6:c.489_491dup ENSP00000452477.2:p.Ile164_Ser165insIle
ENST00000554131.6:c.501_503dup ENSP00000451915.2:p.Ile168_Ser169insIle
ENST00000555386.6:c.489_491dup ENSP00000450845.1:p.Ile164_Ser165insIle
ENST00000556066.2:n.927_929dup
ENST00000556951.6:c.489_491dup ENSP00000450551.2:p.Ile164_Ser165insIle
ENST00000557293.6:c.501_503dup ENSP00000451880.2:p.Ile168_Ser169insIle
ENST00000559361.6:c.*445_*447dup ENSP00000454156.1:n.*445_*447dup
ENST00000697912.1:c.489_491dup ENSP00000513477.1:p.Ile164_Ser165insIle
ENST00000697913.1:n.755_757dup
ENST00000700265.1:c.489_491dup ENSP00000514901.1:p.Ile164_Ser165insIle
ENST00000700266.1:c.*713_*715dup ENSP00000514902.1:n.*713_*715dup
ENST00000700267.1:c.501_503dup ENSP00000514903.1:p.Ile168_Ser169insIle
ENST00000700268.1:c.501_503dup ENSP00000514904.1:p.Ile168_Ser169insIle
ENST00000700269.1:c.501_503dup ENSP00000514905.1:p.Ile168_Ser169insIle
ENST00000700270.1:n.757_759dup
ENST00000700271.1:c.489_491dup ENSP00000514906.1:p.Ile164_Ser165insIle
ENST00000700272.1:c.*445_*447dup ENSP00000514907.1:n.*445_*447dup
ENST00000700273.1:c.489_491dup ENSP00000514908.1:p.Ile164_Ser165insIle
ENST00000700302.1:c.501_503dup ENSP00000514929.1:p.Ile168_Ser169insIle
ENST00000700303.1:c.*163_*165dup ENSP00000514930.1:n.*163_*165dup
ENST00000700304.1:c.*445_*447dup ENSP00000514931.1:n.*445_*447dup
ENST00000700305.1:c.*59_*61dup ENSP00000514932.1:n.*59_*61dup
ENST00000700306.1:c.501_503dup ENSP00000514933.1:p.Ile168_Ser169insIle
ENST00000700307.1:c.501_503dup ENSP00000514934.1:p.Ile168_Ser169insIle
ENST00000700308.1:c.*445_*447dup ENSP00000514935.1:n.*445_*447dup
ENST00000700309.1:c.*590_*592dup ENSP00000514936.1:n.*590_*592dup
ENST00000700310.1:c.489_491dup ENSP00000514937.1:p.Ile164_Ser165insIle
ENST00000700311.1:c.501_503dup ENSP00000514938.1:p.Ile168_Ser169insIle
ENST00000700312.1:c.252_254dup ENSP00000514939.1:p.Ile85_Ser86insIle
ENST00000700313.1:c.489_491dup ENSP00000514940.1:p.Ile164_Ser165insIle
ENST00000700314.1:c.*440_*442dup ENSP00000514941.1:n.*440_*442dup
ENST00000700315.1:c.*59_*61dup ENSP00000514942.1:n.*59_*61dup
ENST00000700316.1:c.*281_*283dup ENSP00000514943.1:n.*281_*283dup
ENST00000700317.1:c.501_503dup ENSP00000514944.1:p.Ile168_Ser169insIle
ENST00000700318.1:c.*163_*165dup ENSP00000514945.1:n.*163_*165dup
ENST00000700319.1:c.481-5771_481-5769dup ENSP00000514946.1:n.481-5771_481-5769dup
ENST00000700320.1:c.501_503dup ENSP00000514947.1:p.Ile168_Ser169insIle
ENST00000700321.1:c.501_503dup ENSP00000514948.1:p.Ile168_Ser169insIle
ENST00000700322.1:c.489_491dup ENSP00000514949.1:p.Ile164_Ser165insIle
ENST00000700323.1:c.501_503dup ENSP00000514950.1:p.Ile168_Ser169insIle
ENST00000700324.1:c.489_491dup ENSP00000514951.1:p.Ile164_Ser165insIle
ENST00000700375.1:c.501_503dup ENSP00000514966.1:p.Ile168_Ser169insIle
ENST00000700376.1:n.1085_1087dup
ENST00000700377.1:c.501_503dup ENSP00000514967.1:p.Ile168_Ser169insIle
ENST00000700378.1:c.501_503dup ENSP00000514968.1:p.Ile168_Ser169insIle
ENST00000700379.1:n.899_901dup
ENST00000700388.1:n.748_750dup
ENST00000700389.1:c.489_491dup ENSP00000514970.1:p.Ile164_Ser165insIle
ENST00000700390.1:n.2212_2214dup
ENST00000700404.1:n.1384_1386dup
ENST00000700432.1:n.858_860dup
ENST00000700433.1:n.636_638dup
ENST00000700434.1:n.754_756dup
ENST00000700435.1:n.636_638dup
ENST00000700436.1:c.501_503dup ENSP00000514987.1:p.Ile168_Ser169insIle
ENST00000700437.1:c.252_254dup ENSP00000514988.1:p.Ile85_Ser86insIle
ENST00000700467.1:n.758_760dup
ENST00000700468.1:c.489_491dup ENSP00000515001.1:p.Ile164_Ser165insIle
ENST00000700469.1:c.489_491dup ENSP00000515002.1:p.Ile164_Ser165insIle
ENST00000324501.10:c.501_503dup MANE Select ENSP00000326366.5:p.Ile168_Ser169insIle
ENST00000324501.9:c.501_503dup ENSP00000326366.5:p.Ile168_Ser169insIle
ENST00000357710.8:c.489_491dup ENSP00000350342.4:p.Ile164_Ser165insIle
ENST00000394164.5:c.489_491dup ENSP00000377719.1:p.Ile164_Ser165insIle
ENST00000406768.1:c.225_227dup ENSP00000385948.1:p.Ile76_Ser77insIle
ENST00000553855.5:c.501_503dup ENSP00000452242.1:p.Ile168_Ser169insIle
ENST00000555386.5:c.489_491dup ENSP00000450845.1:p.Ile164_Ser165insIle
ENST00000557511.5:c.501_503dup ENSP00000451429.1:p.Ile168_Ser169insIle
NM_000021.3:c.501_503dup NP_000012.1:p.Ile168_Ser169insIle
NM_007318.2:c.489_491dup NP_015557.2:p.Ile164_Ser165insIle
XM_005267864.1:c.501_503dup XP_005267921.1:p.Ile168_Ser169insIle
XM_005267866.1:c.489_491dup XP_005267923.1:p.Ile164_Ser165insIle
XM_011536971.1:c.501_503dup XP_011535273.1:p.Ile168_Ser169insIle
XM_011536972.1:c.501_503dup XP_011535274.1:p.Ile168_Ser169insIle
XM_011536973.1:c.489_491dup XP_011535275.1:p.Ile164_Ser165insIle
XM_011536974.1:c.489_491dup XP_011535276.1:p.Ile164_Ser165insIle
XM_005267864.3:c.501_503dup XP_005267921.1:p.Ile168_Ser169insIle
XM_005267866.2:c.489_491dup XP_005267923.1:p.Ile164_Ser165insIle
XM_011536972.2:c.501_503dup XP_011535274.1:p.Ile168_Ser169insIle
XM_011536973.2:c.489_491dup XP_011535275.1:p.Ile164_Ser165insIle
XM_011536974.2:c.489_491dup XP_011535276.1:p.Ile164_Ser165insIle
NM_000021.4:c.501_503dup MANE Select NP_000012.1:p.Ile168_Ser169insIle
NM_007318.3:c.489_491dup NP_015557.2:p.Ile164_Ser165insIle