Canonical Allele Identifier: CA645595789

Gene: PSEN1

Linked Data

• COSMIC: COSM957596

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73206416_73206418del , CM000676.2:g.73206416_73206418del	GRCh38
NC_000014.8:g.73673124_73673126del , CM000676.1:g.73673124_73673126del	GRCh37
NC_000014.7:g.72742877_72742879del	NCBI36
NG_007386.2:g.74946_74948del

Transcript Alleles

HGVS	Amino-acid change
ENST00000553599.6:c.887_889del	ENSP00000452477.2:p.Glu296del
ENST00000554131.6:c.899_901del	ENSP00000451915.2:p.Glu300del
ENST00000554995.2:n.1649_1651del
ENST00000555386.6:c.887_889del	ENSP00000450845.1:p.Glu296del
ENST00000556066.2:n.1325_1327del
ENST00000556951.6:c.887_889del	ENSP00000450551.2:p.Glu296del
ENST00000557293.6:c.779_781del	ENSP00000451880.2:p.Glu260del
ENST00000559361.6:c.*843_*845del	ENSP00000454156.1:n.*843_*845del
ENST00000697912.1:c.887_889del	ENSP00000513477.1:p.Glu296del
ENST00000697913.1:n.1153_1155del
ENST00000700265.1:c.887_889del	ENSP00000514901.1:p.Glu296del
ENST00000700266.1:c.*1111_*1113del	ENSP00000514902.1:n.*1111_*1113del
ENST00000700267.1:c.899_901del	ENSP00000514903.1:p.Glu300del
ENST00000700268.1:c.899_901del	ENSP00000514904.1:p.Glu300del
ENST00000700269.1:c.899_901del	ENSP00000514905.1:p.Glu300del
ENST00000700270.1:n.1155_1157del
ENST00000700271.1:c.887_889del	ENSP00000514906.1:p.Glu296del
ENST00000700272.1:c.*843_*845del	ENSP00000514907.1:n.*843_*845del
ENST00000700273.1:c.887_889del	ENSP00000514908.1:p.Glu296del
ENST00000700302.1:c.899_901del	ENSP00000514929.1:p.Glu300del
ENST00000700303.1:c.*561_*563del	ENSP00000514930.1:n.*561_*563del
ENST00000700304.1:c.*843_*845del	ENSP00000514931.1:n.*843_*845del
ENST00000700305.1:c.*457_*459del	ENSP00000514932.1:n.*457_*459del
ENST00000700306.1:c.899_901del	ENSP00000514933.1:p.Glu300del
ENST00000700307.1:c.800_802del	ENSP00000514934.1:p.Glu267del
ENST00000700308.1:c.*843_*845del	ENSP00000514935.1:n.*843_*845del
ENST00000700309.1:c.*988_*990del	ENSP00000514936.1:n.*988_*990del
ENST00000700310.1:c.788_790del	ENSP00000514937.1:p.Glu263del
ENST00000700311.1:c.899_901del	ENSP00000514938.1:p.Glu300del
ENST00000700312.1:c.650_652del	ENSP00000514939.1:p.Glu217del
ENST00000700313.1:c.887_889del	ENSP00000514940.1:p.Glu296del
ENST00000700314.1:c.*838_*840del	ENSP00000514941.1:n.*838_*840del
ENST00000700315.1:c.*457_*459del	ENSP00000514942.1:n.*457_*459del
ENST00000700316.1:c.*679_*681del	ENSP00000514943.1:n.*679_*681del
ENST00000700317.1:c.899_901del	ENSP00000514944.1:p.Glu300del
ENST00000700318.1:c.*561_*563del	ENSP00000514945.1:n.*561_*563del
ENST00000700319.1:c.*339_*341del	ENSP00000514946.1:n.*339_*341del
ENST00000700320.1:c.926_928del	ENSP00000514947.1:p.Glu309del
ENST00000700321.1:c.899_901del	ENSP00000514948.1:p.Glu300del
ENST00000700322.1:c.887_889del	ENSP00000514949.1:p.Glu296del
ENST00000700323.1:c.899_901del	ENSP00000514950.1:p.Glu300del
ENST00000700324.1:c.887_889del	ENSP00000514951.1:p.Glu296del
ENST00000700375.1:c.899_901del	ENSP00000514966.1:p.Glu300del
ENST00000700377.1:c.*367_*369del	ENSP00000514967.1:n.*367_*369del
ENST00000700378.1:c.899_901del	ENSP00000514968.1:p.Glu300del
ENST00000700379.1:n.1297_1299del
ENST00000700389.1:c.887_889del	ENSP00000514970.1:p.Glu296del
ENST00000700390.1:n.2610_2612del
ENST00000700391.1:n.110_112del
ENST00000700404.1:n.1898_1900del
ENST00000700433.1:n.1150_1152del
ENST00000700434.1:n.1152_1154del
ENST00000700435.1:n.1034_1036del
ENST00000700436.1:c.899_901del	ENSP00000514987.1:p.Glu300del
ENST00000700437.1:c.650_652del	ENSP00000514988.1:p.Glu217del
ENST00000700467.1:n.1156_1158del
ENST00000700468.1:c.788_790del	ENSP00000515001.1:p.Glu263del
ENST00000700469.1:c.887_889del	ENSP00000515002.1:p.Glu296del
ENST00000324501.10:c.899_901del MANE Select	ENSP00000326366.5:p.Glu300del
ENST00000324501.9:c.899_901del	ENSP00000326366.5:p.Glu300del
ENST00000357710.8:c.887_889del	ENSP00000350342.4:p.Glu296del
ENST00000394164.5:c.887_889del	ENSP00000377719.1:p.Glu296del
ENST00000406768.1:c.623_625del	ENSP00000385948.1:p.Glu208del
ENST00000553855.5:c.899_901del	ENSP00000452242.1:p.Glu300del
ENST00000554995.1:n.451_453del
ENST00000555386.5:c.887_889del	ENSP00000450845.1:p.Glu296del
ENST00000555867.1:n.264_266del
ENST00000557511.5:c.899_901del	ENSP00000451429.1:p.Glu300del
NM_000021.3:c.899_901del	NP_000012.1:p.Glu300del
NM_007318.2:c.887_889del	NP_015557.2:p.Glu296del
XM_005267864.1:c.899_901del	XP_005267921.1:p.Glu300del
XM_005267866.1:c.887_889del	XP_005267923.1:p.Glu296del
XM_011536971.1:c.899_901del	XP_011535273.1:p.Glu300del
XM_011536972.1:c.899_901del	XP_011535274.1:p.Glu300del
XM_011536973.1:c.887_889del	XP_011535275.1:p.Glu296del
XM_011536974.1:c.887_889del	XP_011535276.1:p.Glu296del
XM_005267864.3:c.899_901del	XP_005267921.1:p.Glu300del
XM_005267866.2:c.887_889del	XP_005267923.1:p.Glu296del
XM_011536972.2:c.899_901del	XP_011535274.1:p.Glu300del
XM_011536973.2:c.887_889del	XP_011535275.1:p.Glu296del
XM_011536974.2:c.887_889del	XP_011535276.1:p.Glu296del
NM_000021.4:c.899_901del MANE Select	NP_000012.1:p.Glu300del
NM_007318.3:c.887_889del	NP_015557.2:p.Glu296del