Canonical Allele Identifier: CA2146488681

Gene: PSEN1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73223291_73223296delinsATGTGC , CM000676.2:g.73223291_73223296delinsATGTGC	GRCh38
NC_000014.8:g.73689999_73690004delinsATGTGC , CM000676.1:g.73689999_73690004delinsATGTGC	GRCh37
NC_000014.7:g.72759752_72759757delinsATGTGC	NCBI36
NG_007386.2:g.91821_91826delinsATGTGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553599.6:c.*4002_*4007delinsATGTGC	ENSP00000452477.2:n.*4002_*4007delinsATGTGC
ENST00000554131.6:c.*4002_*4007delinsATGTGC	ENSP00000451915.2:n.*4002_*4007delinsATGTGC
ENST00000554995.2:n.6156_6161delinsATGTGC
ENST00000556066.2:n.5832_5837delinsATGTGC
ENST00000556951.6:c.*4002_*4007delinsATGTGC	ENSP00000450551.2:n.*4002_*4007delinsATGTGC
ENST00000557293.6:c.*4002_*4007delinsATGTGC	ENSP00000451880.2:n.*4002_*4007delinsATGTGC
ENST00000559361.6:c.*5350_*5355delinsATGTGC	ENSP00000454156.1:n.*5350_*5355delinsATGTGC
ENST00000697912.1:c.*4594_*4599delinsATGTGC	ENSP00000513477.1:n.*4594_*4599delinsATGTGC
ENST00000697913.1:n.10956_10961delinsATGTGC
ENST00000697915.1:n.4763_4768delinsATGTGC
ENST00000700265.1:c.*4002_*4007delinsATGTGC	ENSP00000514901.1:n.*4002_*4007delinsATGTGC
ENST00000700266.1:c.*5618_*5623delinsATGTGC	ENSP00000514902.1:n.*5618_*5623delinsATGTGC
ENST00000700267.1:c.*4002_*4007delinsATGTGC	ENSP00000514903.1:n.*4002_*4007delinsATGTGC
ENST00000700268.1:c.*4002_*4007delinsATGTGC	ENSP00000514904.1:n.*4002_*4007delinsATGTGC
ENST00000700269.1:c.*4002_*4007delinsATGTGC	ENSP00000514905.1:n.*4002_*4007delinsATGTGC
ENST00000700271.1:c.*4002_*4007delinsATGTGC	ENSP00000514906.1:n.*4002_*4007delinsATGTGC
ENST00000700272.1:c.*5350_*5355delinsATGTGC	ENSP00000514907.1:n.*5350_*5355delinsATGTGC
ENST00000700273.1:c.*4002_*4007delinsATGTGC	ENSP00000514908.1:n.*4002_*4007delinsATGTGC
ENST00000700302.1:c.*4222_*4227delinsATGTGC	ENSP00000514929.1:n.*4222_*4227delinsATGTGC
ENST00000700303.1:c.*5068_*5073delinsATGTGC	ENSP00000514930.1:n.*5068_*5073delinsATGTGC
ENST00000700304.1:c.*5350_*5355delinsATGTGC	ENSP00000514931.1:n.*5350_*5355delinsATGTGC
ENST00000700305.1:c.*4964_*4969delinsATGTGC	ENSP00000514932.1:n.*4964_*4969delinsATGTGC
ENST00000700306.1:c.*4002_*4007delinsATGTGC	ENSP00000514933.1:n.*4002_*4007delinsATGTGC
ENST00000700307.1:c.*4002_*4007delinsATGTGC	ENSP00000514934.1:n.*4002_*4007delinsATGTGC
ENST00000700308.1:c.*5350_*5355delinsATGTGC	ENSP00000514935.1:n.*5350_*5355delinsATGTGC
ENST00000700309.1:c.*5495_*5500delinsATGTGC	ENSP00000514936.1:n.*5495_*5500delinsATGTGC
ENST00000700310.1:c.*4361_*4366delinsATGTGC	ENSP00000514937.1:n.*4361_*4366delinsATGTGC
ENST00000700311.1:c.*4222_*4227delinsATGTGC	ENSP00000514938.1:n.*4222_*4227delinsATGTGC
ENST00000700312.1:c.*4002_*4007delinsATGTGC	ENSP00000514939.1:n.*4002_*4007delinsATGTGC
ENST00000700313.1:c.*4002_*4007delinsATGTGC	ENSP00000514940.1:n.*4002_*4007delinsATGTGC
ENST00000700314.1:c.*5345_*5350delinsATGTGC	ENSP00000514941.1:n.*5345_*5350delinsATGTGC
ENST00000700315.1:c.*4964_*4969delinsATGTGC	ENSP00000514942.1:n.*4964_*4969delinsATGTGC
ENST00000700316.1:c.*5186_*5191delinsATGTGC	ENSP00000514943.1:n.*5186_*5191delinsATGTGC
ENST00000700317.1:c.*4002_*4007delinsATGTGC	ENSP00000514944.1:n.*4002_*4007delinsATGTGC
ENST00000700318.1:c.*5068_*5073delinsATGTGC	ENSP00000514945.1:n.*5068_*5073delinsATGTGC
ENST00000700319.1:c.*4846_*4851delinsATGTGC	ENSP00000514946.1:n.*4846_*4851delinsATGTGC
ENST00000700320.1:c.*4002_*4007delinsATGTGC	ENSP00000514947.1:n.*4002_*4007delinsATGTGC
ENST00000700321.1:c.*4002_*4007delinsATGTGC	ENSP00000514948.1:n.*4002_*4007delinsATGTGC
ENST00000700322.1:c.*4002_*4007delinsATGTGC	ENSP00000514949.1:n.*4002_*4007delinsATGTGC
ENST00000700323.1:c.*4002_*4007delinsATGTGC	ENSP00000514950.1:n.*4002_*4007delinsATGTGC
ENST00000700324.1:c.*4002_*4007delinsATGTGC	ENSP00000514951.1:n.*4002_*4007delinsATGTGC
ENST00000700375.1:c.*4002_*4007delinsATGTGC	ENSP00000514966.1:n.*4002_*4007delinsATGTGC
ENST00000700377.1:c.*4874_*4879delinsATGTGC	ENSP00000514967.1:n.*4874_*4879delinsATGTGC
ENST00000700378.1:c.*4002_*4007delinsATGTGC	ENSP00000514968.1:n.*4002_*4007delinsATGTGC
ENST00000700379.1:n.5804_5809delinsATGTGC
ENST00000700390.1:n.7117_7122delinsATGTGC
ENST00000700404.1:n.6405_6410delinsATGTGC
ENST00000700436.1:c.*4361_*4366delinsATGTGC	ENSP00000514987.1:n.*4361_*4366delinsATGTGC
ENST00000700437.1:c.*4002_*4007delinsATGTGC	ENSP00000514988.1:n.*4002_*4007delinsATGTGC
ENST00000700468.1:c.*4002_*4007delinsATGTGC	ENSP00000515001.1:n.*4002_*4007delinsATGTGC
ENST00000700469.1:c.*4002_*4007delinsATGTGC	ENSP00000515002.1:n.*4002_*4007delinsATGTGC
ENST00000324501.10:c.*4002_*4007delinsATGTGC MANE Select	ENSP00000326366.5:n.*4002_*4007delinsATGTGC
ENST00000324501.9:c.*4002_*4007delinsATGTGC	ENSP00000326366.5:n.*4002_*4007delinsATGTGC
NM_000021.3:c.*4002_*4007delinsATGTGC	NP_000012.1:n.*4002_*4007delinsATGTGC
NM_007318.2:c.*4002_*4007delinsATGTGC	NP_015557.2:n.*4002_*4007delinsATGTGC
XM_005267864.1:c.*4002_*4007delinsATGTGC	XP_005267921.1:n.*4002_*4007delinsATGTGC
XM_005267866.1:c.*4002_*4007delinsATGTGC	XP_005267923.1:n.*4002_*4007delinsATGTGC
XM_011536971.1:c.*4002_*4007delinsATGTGC	XP_011535273.1:n.*4002_*4007delinsATGTGC
XM_011536972.1:c.*4002_*4007delinsATGTGC	XP_011535274.1:n.*4002_*4007delinsATGTGC
XM_011536973.1:c.*4002_*4007delinsATGTGC	XP_011535275.1:n.*4002_*4007delinsATGTGC
XM_011536974.1:c.*4002_*4007delinsATGTGC	XP_011535276.1:n.*4002_*4007delinsATGTGC
NM_000021.4:c.*4002_*4007delinsATGTGC MANE Select	NP_000012.1:n.*4002_*4007delinsATGTGC
NM_007318.3:c.*4002_*4007delinsATGTGC	NP_015557.2:n.*4002_*4007delinsATGTGC