Canonical Allele Identifier: CA2146475130

Gene: PSEN1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73192654_73192670delinsAAAACCTATAACGTTGC , CM000676.2:g.73192654_73192670delinsAAAACCTATAACGTTGC	GRCh38
NC_000014.8:g.73659362_73659378delinsAAAACCTATAACGTTGC , CM000676.1:g.73659362_73659378delinsAAAACCTATAACGTTGC	GRCh37
NC_000014.7:g.72729115_72729131delinsAAAACCTATAACGTTGC	NCBI36
NG_007386.2:g.61184_61200delinsAAAACCTATAACGTTGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553599.6:c.547_563delinsAAAACCTATAACGTTGC	ENSP00000452477.2:p.Lys183=
ENST00000554131.6:c.559_575delinsAAAACCTATAACGTTGC	ENSP00000451915.2:p.Lys187=
ENST00000555386.6:c.547_563delinsAAAACCTATAACGTTGC	ENSP00000450845.1:p.Lys183=
ENST00000556066.2:n.985_1001delinsAAAACCTATAACGTTGC
ENST00000556951.6:c.547_563delinsAAAACCTATAACGTTGC	ENSP00000450551.2:p.Lys183=
ENST00000557293.6:c.559_575delinsAAAACCTATAACGTTGC	ENSP00000451880.2:p.Lys187=
ENST00000559361.6:c.*503_*519delinsAAAACCTATAACGTTGC	ENSP00000454156.1:n.*503_*519delinsAAAACCTATAACGTTGC
ENST00000697912.1:c.547_563delinsAAAACCTATAACGTTGC	ENSP00000513477.1:p.Lys183=
ENST00000697913.1:n.813_829delinsAAAACCTATAACGTTGC
ENST00000700265.1:c.547_563delinsAAAACCTATAACGTTGC	ENSP00000514901.1:p.Lys183=
ENST00000700266.1:c.*771_*787delinsAAAACCTATAACGTTGC	ENSP00000514902.1:n.*771_*787delinsAAAACCTATAACGTTGC
ENST00000700267.1:c.559_575delinsAAAACCTATAACGTTGC	ENSP00000514903.1:p.Lys187=
ENST00000700268.1:c.559_575delinsAAAACCTATAACGTTGC	ENSP00000514904.1:p.Lys187=
ENST00000700269.1:c.559_575delinsAAAACCTATAACGTTGC	ENSP00000514905.1:p.Lys187=
ENST00000700270.1:n.815_831delinsAAAACCTATAACGTTGC
ENST00000700271.1:c.547_563delinsAAAACCTATAACGTTGC	ENSP00000514906.1:p.Lys183=
ENST00000700272.1:c.*503_*519delinsAAAACCTATAACGTTGC	ENSP00000514907.1:n.*503_*519delinsAAAACCTATAACGTTGC
ENST00000700273.1:c.547_563delinsAAAACCTATAACGTTGC	ENSP00000514908.1:p.Lys183=
ENST00000700302.1:c.559_575delinsAAAACCTATAACGTTGC	ENSP00000514929.1:p.Lys187=
ENST00000700303.1:c.*221_*237delinsAAAACCTATAACGTTGC	ENSP00000514930.1:n.*221_*237delinsAAAACCTATAACGTTGC
ENST00000700304.1:c.*503_*519delinsAAAACCTATAACGTTGC	ENSP00000514931.1:n.*503_*519delinsAAAACCTATAACGTTGC
ENST00000700305.1:c.*117_*133delinsAAAACCTATAACGTTGC	ENSP00000514932.1:n.*117_*133delinsAAAACCTATAACGTTGC
ENST00000700306.1:c.559_575delinsAAAACCTATAACGTTGC	ENSP00000514933.1:p.Lys187=
ENST00000700307.1:c.559_575delinsAAAACCTATAACGTTGC	ENSP00000514934.1:p.Lys187=
ENST00000700308.1:c.*503_*519delinsAAAACCTATAACGTTGC	ENSP00000514935.1:n.*503_*519delinsAAAACCTATAACGTTGC
ENST00000700309.1:c.*648_*664delinsAAAACCTATAACGTTGC	ENSP00000514936.1:n.*648_*664delinsAAAACCTATAACGTTGC
ENST00000700310.1:c.547_563delinsAAAACCTATAACGTTGC	ENSP00000514937.1:p.Lys183=
ENST00000700311.1:c.559_575delinsAAAACCTATAACGTTGC	ENSP00000514938.1:p.Lys187=
ENST00000700312.1:c.310_326delinsAAAACCTATAACGTTGC	ENSP00000514939.1:p.Lys104=
ENST00000700313.1:c.547_563delinsAAAACCTATAACGTTGC	ENSP00000514940.1:p.Lys183=
ENST00000700314.1:c.*498_*514delinsAAAACCTATAACGTTGC	ENSP00000514941.1:n.*498_*514delinsAAAACCTATAACGTTGC
ENST00000700315.1:c.*117_*133delinsAAAACCTATAACGTTGC	ENSP00000514942.1:n.*117_*133delinsAAAACCTATAACGTTGC
ENST00000700316.1:c.*339_*355delinsAAAACCTATAACGTTGC	ENSP00000514943.1:n.*339_*355delinsAAAACCTATAACGTTGC
ENST00000700317.1:c.559_575delinsAAAACCTATAACGTTGC	ENSP00000514944.1:p.Lys187=
ENST00000700318.1:c.*221_*237delinsAAAACCTATAACGTTGC	ENSP00000514945.1:n.*221_*237delinsAAAACCTATAACGTTGC
ENST00000700319.1:c.491_*15delinsAAAACCTATAACGTTGC	ENSP00000514946.1:n.[c.491_*15delinsAAAACCTATAACGTTGC;Ter164=...
ENST00000700320.1:c.559_575delinsAAAACCTATAACGTTGC	ENSP00000514947.1:p.Lys187=
ENST00000700321.1:c.559_575delinsAAAACCTATAACGTTGC	ENSP00000514948.1:p.Lys187=
ENST00000700322.1:c.547_563delinsAAAACCTATAACGTTGC	ENSP00000514949.1:p.Lys183=
ENST00000700323.1:c.559_575delinsAAAACCTATAACGTTGC	ENSP00000514950.1:p.Lys187=
ENST00000700324.1:c.547_563delinsAAAACCTATAACGTTGC	ENSP00000514951.1:p.Lys183=
ENST00000700375.1:c.559_575delinsAAAACCTATAACGTTGC	ENSP00000514966.1:p.Lys187=
ENST00000700376.1:n.1143_1159delinsAAAACCTATAACGTTGC
ENST00000700377.1:c.*27_*43delinsAAAACCTATAACGTTGC	ENSP00000514967.1:n.*27_*43delinsAAAACCTATAACGTTGC
ENST00000700378.1:c.559_575delinsAAAACCTATAACGTTGC	ENSP00000514968.1:p.Lys187=
ENST00000700379.1:n.957_973delinsAAAACCTATAACGTTGC
ENST00000700388.1:n.806_822delinsAAAACCTATAACGTTGC
ENST00000700389.1:c.547_563delinsAAAACCTATAACGTTGC	ENSP00000514970.1:p.Lys183=
ENST00000700390.1:n.2270_2286delinsAAAACCTATAACGTTGC
ENST00000700404.1:n.1558_1574delinsAAAACCTATAACGTTGC
ENST00000700432.1:n.916_932delinsAAAACCTATAACGTTGC
ENST00000700433.1:n.810_826delinsAAAACCTATAACGTTGC
ENST00000700434.1:n.812_828delinsAAAACCTATAACGTTGC
ENST00000700435.1:n.694_710delinsAAAACCTATAACGTTGC
ENST00000700436.1:c.559_575delinsAAAACCTATAACGTTGC	ENSP00000514987.1:p.Lys187=
ENST00000700437.1:c.310_326delinsAAAACCTATAACGTTGC	ENSP00000514988.1:p.Lys104=
ENST00000700467.1:n.816_832delinsAAAACCTATAACGTTGC
ENST00000700468.1:c.547_563delinsAAAACCTATAACGTTGC	ENSP00000515001.1:p.Lys183=
ENST00000700469.1:c.547_563delinsAAAACCTATAACGTTGC	ENSP00000515002.1:p.Lys183=
ENST00000324501.10:c.559_575delinsAAAACCTATAACGTTGC MANE Select	ENSP00000326366.5:p.Lys187=
ENST00000324501.9:c.559_575delinsAAAACCTATAACGTTGC	ENSP00000326366.5:p.Lys187=
ENST00000357710.8:c.547_563delinsAAAACCTATAACGTTGC	ENSP00000350342.4:p.Lys183=
ENST00000394164.5:c.547_563delinsAAAACCTATAACGTTGC	ENSP00000377719.1:p.Lys183=
ENST00000406768.1:c.283_299delinsAAAACCTATAACGTTGC	ENSP00000385948.1:p.Lys95=
ENST00000553855.5:c.559_575delinsAAAACCTATAACGTTGC	ENSP00000452242.1:p.Lys187=
ENST00000555386.5:c.547_563delinsAAAACCTATAACGTTGC	ENSP00000450845.1:p.Lys183=
ENST00000557511.5:c.559_575delinsAAAACCTATAACGTTGC	ENSP00000451429.1:p.Lys187=
NM_000021.3:c.559_575delinsAAAACCTATAACGTTGC	NP_000012.1:p.Lys187=
NM_007318.2:c.547_563delinsAAAACCTATAACGTTGC	NP_015557.2:p.Lys183=
XM_005267864.1:c.559_575delinsAAAACCTATAACGTTGC	XP_005267921.1:p.Lys187=
XM_005267866.1:c.547_563delinsAAAACCTATAACGTTGC	XP_005267923.1:p.Lys183=
XM_011536971.1:c.559_575delinsAAAACCTATAACGTTGC	XP_011535273.1:p.Lys187=
XM_011536972.1:c.559_575delinsAAAACCTATAACGTTGC	XP_011535274.1:p.Lys187=
XM_011536973.1:c.547_563delinsAAAACCTATAACGTTGC	XP_011535275.1:p.Lys183=
XM_011536974.1:c.547_563delinsAAAACCTATAACGTTGC	XP_011535276.1:p.Lys183=
XM_005267864.3:c.559_575delinsAAAACCTATAACGTTGC	XP_005267921.1:p.Lys187=
XM_005267866.2:c.547_563delinsAAAACCTATAACGTTGC	XP_005267923.1:p.Lys183=
XM_011536972.2:c.559_575delinsAAAACCTATAACGTTGC	XP_011535274.1:p.Lys187=
XM_011536973.2:c.547_563delinsAAAACCTATAACGTTGC	XP_011535275.1:p.Lys183=
XM_011536974.2:c.547_563delinsAAAACCTATAACGTTGC	XP_011535276.1:p.Lys183=
NM_000021.4:c.559_575delinsAAAACCTATAACGTTGC MANE Select	NP_000012.1:p.Lys187=
NM_007318.3:c.547_563delinsAAAACCTATAACGTTGC	NP_015557.2:p.Lys183=