Canonical Allele Identifier: CA708405983
Gene: PSEN1 HGNC NCBI

Linked Data

dbSNP Id: rs1208226781

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.73170830_73170831insCCTTGGCCA , CM000676.2:g.73170830_73170831insCCTTGGCCA GRCh38
NC_000014.8:g.73637538_73637539insCCTTGGCCA , CM000676.1:g.73637538_73637539insCCTTGGCCA GRCh37
NC_000014.7:g.72707291_72707292insCCTTGGCCA NCBI36
NG_007386.2:g.39360_39361insCCTTGGCCA

Transcript Alleles

HGVS Amino-acid change
ENST00000324501.10:c.121_122insCCTTGGCCA MANE Select ENSP00000326366.5:p.Asp40_Arg41insThrLeuA...
ENST00000324501.9:c.121_122insCCTTGGCCA ENSP00000326366.5:p.Asp40_Arg41insThrLeuA...
ENST00000357710.8:c.109_110insCCTTGGCCA ENSP00000350342.4:p.Asp36_Arg37insThrLeuA...
ENST00000394157.7:c.121_122insCCTTGGCCA ENSP00000377712.3:p.Asp40_Arg41insThrLeuA...
ENST00000394164.5:c.109_110insCCTTGGCCA ENSP00000377719.1:p.Asp36_Arg37insThrLeuA...
ENST00000406768.1:c.-156_-155insCCTTGGCCA ENSP00000385948.1:n.-156_-155insCCTTGGCCA...
ENST00000553447.6:n.518_519insCCTTGGCCA
ENST00000553599.5:c.109_110insCCTTGGCCA ENSP00000452477.1:p.Asp36_Arg37insThrLeuA...
ENST00000553719.5:c.109_110insCCTTGGCCA ENSP00000451674.1:p.Asp36_Arg37insThrLeuA...
ENST00000553855.5:n.121_122insCCTTGGCCA ENSP00000452242.1:p.Asp40_Arg41insThrLeuA...
ENST00000554131.5:c.121_122insCCTTGGCCA ENSP00000451915.1:p.Asp40_Arg41insThrLeuA...
ENST00000555254.5:c.121_122insCCTTGGCCA ENSP00000450652.1:p.Asp40_Arg41insThrLeuA...
ENST00000555386.5:n.109_110insCCTTGGCCA ENSP00000450845.1:p.Asp36_Arg37insThrLeuA...
ENST00000556066.1:c.109_110insCCTTGGCCA ENSP00000452267.1:p.Asp36_Arg37insThrLeuA...
ENST00000556533.5:c.109_110insCCTTGGCCA ENSP00000452128.1:p.Asp36_Arg37insThrLeuA...
ENST00000556864.5:c.109_110insCCTTGGCCA ENSP00000451588.1:p.Asp36_Arg37insThrLeuA...
ENST00000556951.5:c.109_110insCCTTGGCCA ENSP00000450551.1:p.Asp36_Arg37insThrLeuA...
ENST00000557037.5:c.109_110insCCTTGGCCA ENSP00000451347.1:p.Asp36_Arg37insThrLeuA...
ENST00000557293.5:c.121_122insCCTTGGCCA ENSP00000451880.1:p.Asp40_Arg41insThrLeuA...
ENST00000557356.5:c.109_110insCCTTGGCCA ENSP00000451498.1:p.Asp36_Arg37insThrLeuA...
ENST00000557511.5:n.121_122insCCTTGGCCA ENSP00000451429.1:p.Asp40_Arg41insThrLeuA...
ENST00000559361.5:c.*65_*66insCCTTGGCCA ENSP00000454156.1:n.*65_*66insCCTTGGCCA
ENST00000560005.6:c.109_110insCCTTGGCCA ENSP00000453466.1:p.Asp36_Arg37insThrLeuA...
NM_000021.3:c.121_122insCCTTGGCCA NP_000012.1:p.Asp40_Arg41insThrLeuAla
NM_007318.2:c.109_110insCCTTGGCCA NP_015557.2:p.Asp36_Arg37insThrLeuAla
XM_005267864.1:c.121_122insCCTTGGCCA XP_005267921.1:p.Asp40_Arg41insThrLeuAla
XM_005267866.1:c.109_110insCCTTGGCCA XP_005267923.1:p.Asp36_Arg37insThrLeuAla
XM_011536971.1:c.121_122insCCTTGGCCA XP_011535273.1:p.Asp40_Arg41insThrLeuAla
XM_011536972.1:c.121_122insCCTTGGCCA XP_011535274.1:p.Asp40_Arg41insThrLeuAla
XM_011536973.1:c.109_110insCCTTGGCCA XP_011535275.1:p.Asp36_Arg37insThrLeuAla
XM_011536974.1:c.109_110insCCTTGGCCA XP_011535276.1:p.Asp36_Arg37insThrLeuAla
XM_005267864.3:c.121_122insCCTTGGCCA XP_005267921.1:p.Asp40_Arg41insThrLeuAla
XM_005267866.2:c.109_110insCCTTGGCCA XP_005267923.1:p.Asp36_Arg37insThrLeuAla
XM_011536972.2:c.121_122insCCTTGGCCA XP_011535274.1:p.Asp40_Arg41insThrLeuAla
XM_011536973.2:c.109_110insCCTTGGCCA XP_011535275.1:p.Asp36_Arg37insThrLeuAla
XM_011536974.2:c.109_110insCCTTGGCCA XP_011535276.1:p.Asp36_Arg37insThrLeuAla
NM_000021.4:c.121_122insCCTTGGCCA MANE Select NP_000012.1:p.Asp40_Arg41insThrLeuAla
NM_007318.3:c.109_110insCCTTGGCCA NP_015557.2:p.Asp36_Arg37insThrLeuAla