Canonical Allele Identifier: CA225147

Gene: PSEN1

Linked Data

• ClinVar Variation Id: 98095
• ClinVar RCV Id: RCV000084391
• dbSNP Id: rs63750762
• ExAC: 14:73678573 A / ATCG
• gnomAD v2: 14-73678573-A-ATCG
• gnomAD v3: 14-73211865-A-ATCG
• gnomAD v4: 14-73211865-A-ATCG
• MyVariant Identifiers: chr14:g.73678574_73678576dupTCG (hg19) ; chr14:g.73678573_73678574insTCG (hg19) ; chr14:g.73211866_73211868dupTCG (hg38) ; chr14:g.73211865_73211866insTCG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73211866_73211868dup , CM000676.2:g.73211866_73211868dup	GRCh38
NC_000014.8:g.73678574_73678576dup , CM000676.1:g.73678574_73678576dup	GRCh37
NC_000014.7:g.72748327_72748329dup	NCBI36
NG_007386.2:g.80396_80398dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553599.6:c.1041_1043dup	ENSP00000452477.2:p.Arg348_Ser349insArg
ENST00000554131.6:c.1053_1055dup	ENSP00000451915.2:p.Arg352_Ser353insArg
ENST00000554995.2:n.1803_1805dup
ENST00000555386.6:c.*8_*10dup	ENSP00000450845.1:n.*8_*10dup
ENST00000556066.2:n.1479_1481dup
ENST00000556951.6:c.1041_1043dup	ENSP00000450551.2:p.Arg348_Ser349insArg
ENST00000557293.6:c.933_935dup	ENSP00000451880.2:p.Arg312_Ser313insArg
ENST00000559361.6:c.*997_*999dup	ENSP00000454156.1:n.*997_*999dup
ENST00000697912.1:c.1041_1043dup	ENSP00000513477.1:p.Arg348_Ser349insArg
ENST00000697913.1:n.6603_6605dup
ENST00000700265.1:c.1041_1043dup	ENSP00000514901.1:p.Arg348_Ser349insArg
ENST00000700266.1:c.*1265_*1267dup	ENSP00000514902.1:n.*1265_*1267dup
ENST00000700267.1:c.1053_1055dup	ENSP00000514903.1:p.Arg352_Ser353insArg
ENST00000700268.1:c.1053_1055dup	ENSP00000514904.1:p.Arg352_Ser353insArg
ENST00000700269.1:c.1053_1055dup	ENSP00000514905.1:p.Arg352_Ser353insArg
ENST00000700271.1:c.944-5260_944-5258dup	ENSP00000514906.1:n.944-5260_944-5258dup
ENST00000700272.1:c.*997_*999dup	ENSP00000514907.1:n.*997_*999dup
ENST00000700273.1:c.1041_1043dup	ENSP00000514908.1:p.Arg348_Ser349insArg
ENST00000700302.1:c.1053_1055dup	ENSP00000514929.1:p.Arg352_Ser353insArg
ENST00000700303.1:c.*715_*717dup	ENSP00000514930.1:n.*715_*717dup
ENST00000700304.1:c.*997_*999dup	ENSP00000514931.1:n.*997_*999dup
ENST00000700305.1:c.*611_*613dup	ENSP00000514932.1:n.*611_*613dup
ENST00000700306.1:c.1053_1055dup	ENSP00000514933.1:p.Arg352_Ser353insArg
ENST00000700307.1:c.954_956dup	ENSP00000514934.1:p.Arg319_Ser320insArg
ENST00000700308.1:c.*997_*999dup	ENSP00000514935.1:n.*997_*999dup
ENST00000700309.1:c.*1142_*1144dup	ENSP00000514936.1:n.*1142_*1144dup
ENST00000700310.1:c.*8_*10dup	ENSP00000514937.1:n.*8_*10dup
ENST00000700311.1:c.1053_1055dup	ENSP00000514938.1:p.Arg352_Ser353insArg
ENST00000700312.1:c.804_806dup	ENSP00000514939.1:p.Arg269_Ser270insArg
ENST00000700313.1:c.1041_1043dup	ENSP00000514940.1:p.Arg348_Ser349insArg
ENST00000700314.1:c.*992_*994dup	ENSP00000514941.1:n.*992_*994dup
ENST00000700315.1:c.*611_*613dup	ENSP00000514942.1:n.*611_*613dup
ENST00000700316.1:c.*833_*835dup	ENSP00000514943.1:n.*833_*835dup
ENST00000700317.1:c.1053_1055dup	ENSP00000514944.1:p.Arg352_Ser353insArg
ENST00000700318.1:c.*715_*717dup	ENSP00000514945.1:n.*715_*717dup
ENST00000700319.1:c.*493_*495dup	ENSP00000514946.1:n.*493_*495dup
ENST00000700320.1:c.1080_1082dup	ENSP00000514947.1:p.Arg361_Ser362insArg
ENST00000700321.1:c.1053_1055dup	ENSP00000514948.1:p.Arg352_Ser353insArg
ENST00000700322.1:c.1041_1043dup	ENSP00000514949.1:p.Arg348_Ser349insArg
ENST00000700323.1:c.1053_1055dup	ENSP00000514950.1:p.Arg352_Ser353insArg
ENST00000700324.1:c.1041_1043dup	ENSP00000514951.1:p.Arg348_Ser349insArg
ENST00000700375.1:c.1053_1055dup	ENSP00000514966.1:p.Arg352_Ser353insArg
ENST00000700377.1:c.*521_*523dup	ENSP00000514967.1:n.*521_*523dup
ENST00000700378.1:c.1053_1055dup	ENSP00000514968.1:p.Arg352_Ser353insArg
ENST00000700379.1:n.1451_1453dup
ENST00000700389.1:c.1041_1043dup	ENSP00000514970.1:p.Arg348_Ser349insArg
ENST00000700390.1:n.2764_2766dup
ENST00000700391.1:n.264_266dup
ENST00000700404.1:n.2052_2054dup
ENST00000700435.1:n.1188_1190dup
ENST00000700436.1:c.*8_*10dup	ENSP00000514987.1:n.*8_*10dup
ENST00000700437.1:c.804_806dup	ENSP00000514988.1:p.Arg269_Ser270insArg
ENST00000700468.1:c.942_944dup	ENSP00000515001.1:p.Arg315_Ser316insArg
ENST00000700469.1:c.1041_1043dup	ENSP00000515002.1:p.Arg348_Ser349insArg
ENST00000324501.10:c.1053_1055dup MANE Select	ENSP00000326366.5:p.Arg352_Ser353insArg
ENST00000324501.9:c.1053_1055dup	ENSP00000326366.5:p.Arg352_Ser353insArg
ENST00000357710.8:c.1041_1043dup	ENSP00000350342.4:p.Arg348_Ser349insArg
ENST00000394164.5:c.1041_1043dup	ENSP00000377719.1:p.Arg348_Ser349insArg
ENST00000406768.1:c.777_779dup	ENSP00000385948.1:p.Arg260_Ser261insArg
ENST00000553855.5:c.1145_1147dup	ENSP00000452242.1:n.1145_1147dup
ENST00000555386.5:c.1133_1135dup	ENSP00000450845.1:n.1133_1135dup
ENST00000555867.1:n.418_420dup
ENST00000557511.5:c.956-5260_956-5258dup	ENSP00000451429.1:n.956-5260_956-5258dup
NM_000021.3:c.1053_1055dup	NP_000012.1:p.Arg352_Ser353insArg
NM_007318.2:c.1041_1043dup	NP_015557.2:p.Arg348_Ser349insArg
XM_005267864.1:c.1053_1055dup	XP_005267921.1:p.Arg352_Ser353insArg
XM_005267866.1:c.1041_1043dup	XP_005267923.1:p.Arg348_Ser349insArg
XM_011536971.1:c.1053_1055dup	XP_011535273.1:p.Arg352_Ser353insArg
XM_011536972.1:c.1053_1055dup	XP_011535274.1:p.Arg352_Ser353insArg
XM_011536973.1:c.1041_1043dup	XP_011535275.1:p.Arg348_Ser349insArg
XM_011536974.1:c.1041_1043dup	XP_011535276.1:p.Arg348_Ser349insArg
XM_005267864.3:c.1053_1055dup	XP_005267921.1:p.Arg352_Ser353insArg
XM_005267866.2:c.1041_1043dup	XP_005267923.1:p.Arg348_Ser349insArg
XM_011536972.2:c.1053_1055dup	XP_011535274.1:p.Arg352_Ser353insArg
XM_011536973.2:c.1041_1043dup	XP_011535275.1:p.Arg348_Ser349insArg
XM_011536974.2:c.1041_1043dup	XP_011535276.1:p.Arg348_Ser349insArg
NM_000021.4:c.1053_1055dup MANE Select	NP_000012.1:p.Arg352_Ser353insArg
NM_007318.3:c.1041_1043dup	NP_015557.2:p.Arg348_Ser349insArg