Canonical Allele Identifier: CA2625560499

Gene: PSEN1

Linked Data

• gnomAD v4: 14-73206473-G-GAACAGA

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73206473_73206474insAACAGA , CM000676.2:g.73206473_73206474insAACAGA	GRCh38
NC_000014.8:g.73673181_73673182insAACAGA , CM000676.1:g.73673181_73673182insAACAGA	GRCh37
NC_000014.7:g.72742934_72742935insAACAGA	NCBI36
NG_007386.2:g.75003_75004insAACAGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000553599.6:c.943+1_943+2insAACAGA	ENSP00000452477.2:n.943+1_943+2insAACAGA
ENST00000554131.6:c.955+1_955+2insAACAGA	ENSP00000451915.2:n.955+1_955+2insAACAGA
ENST00000554995.2:n.1705+1_1705+2insAACAGA
ENST00000555386.6:c.943+1_943+2insAACAGA	ENSP00000450845.1:n.943+1_943+2insAACAGA
ENST00000556066.2:n.1381+1_1381+2insAACAGA
ENST00000556951.6:c.943+1_943+2insAACAGA	ENSP00000450551.2:n.943+1_943+2insAACAGA
ENST00000557293.6:c.835+1_835+2insAACAGA	ENSP00000451880.2:n.835+1_835+2insAACAGA
ENST00000559361.6:c.*899+1_*899+2insAACAGA	ENSP00000454156.1:n.*899+1_*899+2insAACAG...
ENST00000697912.1:c.943+1_943+2insAACAGA	ENSP00000513477.1:n.943+1_943+2insAACAGA
ENST00000697913.1:n.1210_1211insAACAGA
ENST00000700265.1:c.943+1_943+2insAACAGA	ENSP00000514901.1:n.943+1_943+2insAACAGA
ENST00000700266.1:c.*1167+1_*1167+2insAACAGA	ENSP00000514902.1:n.*1167+1_*1167+2insAAC...
ENST00000700267.1:c.955+1_955+2insAACAGA	ENSP00000514903.1:n.955+1_955+2insAACAGA
ENST00000700268.1:c.955+1_955+2insAACAGA	ENSP00000514904.1:n.955+1_955+2insAACAGA
ENST00000700269.1:c.955+1_955+2insAACAGA	ENSP00000514905.1:n.955+1_955+2insAACAGA
ENST00000700270.1:n.1212_1213insAACAGA
ENST00000700271.1:c.943+1_943+2insAACAGA	ENSP00000514906.1:n.943+1_943+2insAACAGA
ENST00000700272.1:c.*899+1_*899+2insAACAGA	ENSP00000514907.1:n.*899+1_*899+2insAACAG...
ENST00000700273.1:c.943+1_943+2insAACAGA	ENSP00000514908.1:n.943+1_943+2insAACAGA
ENST00000700302.1:c.955+1_955+2insAACAGA	ENSP00000514929.1:n.955+1_955+2insAACAGA
ENST00000700303.1:c.*617+1_*617+2insAACAGA	ENSP00000514930.1:n.*617+1_*617+2insAACAG...
ENST00000700304.1:c.*899+1_*899+2insAACAGA	ENSP00000514931.1:n.*899+1_*899+2insAACAG...
ENST00000700305.1:c.*513+1_*513+2insAACAGA	ENSP00000514932.1:n.*513+1_*513+2insAACAG...
ENST00000700306.1:c.955+1_955+2insAACAGA	ENSP00000514933.1:n.955+1_955+2insAACAGA
ENST00000700307.1:c.856+1_856+2insAACAGA	ENSP00000514934.1:n.856+1_856+2insAACAGA
ENST00000700308.1:c.*899+1_*899+2insAACAGA	ENSP00000514935.1:n.*899+1_*899+2insAACAG...
ENST00000700309.1:c.*1044+1_*1044+2insAACAGA	ENSP00000514936.1:n.*1044+1_*1044+2insAAC...
ENST00000700310.1:c.844+1_844+2insAACAGA	ENSP00000514937.1:n.844+1_844+2insAACAGA
ENST00000700311.1:c.955+1_955+2insAACAGA	ENSP00000514938.1:n.955+1_955+2insAACAGA
ENST00000700312.1:c.706+1_706+2insAACAGA	ENSP00000514939.1:n.706+1_706+2insAACAGA
ENST00000700313.1:c.943+1_943+2insAACAGA	ENSP00000514940.1:n.943+1_943+2insAACAGA
ENST00000700314.1:c.*894+1_*894+2insAACAGA	ENSP00000514941.1:n.*894+1_*894+2insAACAG...
ENST00000700315.1:c.*513+1_*513+2insAACAGA	ENSP00000514942.1:n.*513+1_*513+2insAACAG...
ENST00000700316.1:c.*735+1_*735+2insAACAGA	ENSP00000514943.1:n.*735+1_*735+2insAACAG...
ENST00000700317.1:c.955+1_955+2insAACAGA	ENSP00000514944.1:n.955+1_955+2insAACAGA
ENST00000700318.1:c.*617+1_*617+2insAACAGA	ENSP00000514945.1:n.*617+1_*617+2insAACAG...
ENST00000700319.1:c.*395+1_*395+2insAACAGA	ENSP00000514946.1:n.*395+1_*395+2insAACAG...
ENST00000700320.1:c.982+1_982+2insAACAGA	ENSP00000514947.1:n.982+1_982+2insAACAGA
ENST00000700321.1:c.955+1_955+2insAACAGA	ENSP00000514948.1:n.955+1_955+2insAACAGA
ENST00000700322.1:c.943+1_943+2insAACAGA	ENSP00000514949.1:n.943+1_943+2insAACAGA
ENST00000700323.1:c.955+1_955+2insAACAGA	ENSP00000514950.1:n.955+1_955+2insAACAGA
ENST00000700324.1:c.943+1_943+2insAACAGA	ENSP00000514951.1:n.943+1_943+2insAACAGA
ENST00000700375.1:c.955+1_955+2insAACAGA	ENSP00000514966.1:n.955+1_955+2insAACAGA
ENST00000700377.1:c.*423+1_*423+2insAACAGA	ENSP00000514967.1:n.*423+1_*423+2insAACAG...
ENST00000700378.1:c.955+1_955+2insAACAGA	ENSP00000514968.1:n.955+1_955+2insAACAGA
ENST00000700379.1:n.1353+1_1353+2insAACAGA
ENST00000700389.1:c.943+1_943+2insAACAGA	ENSP00000514970.1:n.943+1_943+2insAACAGA
ENST00000700390.1:n.2666+1_2666+2insAACAGA
ENST00000700391.1:n.166+1_166+2insAACAGA
ENST00000700404.1:n.1954+1_1954+2insAACAGA
ENST00000700433.1:n.1207_1208insAACAGA
ENST00000700434.1:n.1209_1210insAACAGA
ENST00000700435.1:n.1090+1_1090+2insAACAGA
ENST00000700436.1:c.955+1_955+2insAACAGA	ENSP00000514987.1:n.955+1_955+2insAACAGA
ENST00000700437.1:c.706+1_706+2insAACAGA	ENSP00000514988.1:n.706+1_706+2insAACAGA
ENST00000700467.1:n.1213_1214insAACAGA
ENST00000700468.1:c.844+1_844+2insAACAGA	ENSP00000515001.1:n.844+1_844+2insAACAGA
ENST00000700469.1:c.943+1_943+2insAACAGA	ENSP00000515002.1:n.943+1_943+2insAACAGA
ENST00000324501.10:c.955+1_955+2insAACAGA MANE Select	ENSP00000326366.5:n.955+1_955+2insAACAGA
ENST00000324501.9:c.955+1_955+2insAACAGA	ENSP00000326366.5:n.955+1_955+2insAACAGA
ENST00000357710.8:c.943+1_943+2insAACAGA	ENSP00000350342.4:n.943+1_943+2insAACAGA
ENST00000394164.5:c.943+1_943+2insAACAGA	ENSP00000377719.1:n.943+1_943+2insAACAGA
ENST00000406768.1:c.679+1_679+2insAACAGA	ENSP00000385948.1:n.679+1_679+2insAACAGA
ENST00000553855.5:c.955+1_955+2insAACAGA	ENSP00000452242.1:n.955+1_955+2insAACAGA
ENST00000554995.1:n.507+1_507+2insAACAGA
ENST00000555386.5:c.943+1_943+2insAACAGA	ENSP00000450845.1:n.943+1_943+2insAACAGA
ENST00000555867.1:n.320+1_320+2insAACAGA
ENST00000557511.5:c.955+1_955+2insAACAGA	ENSP00000451429.1:n.955+1_955+2insAACAGA
NM_000021.3:c.955+1_955+2insAACAGA	NP_000012.1:n.955+1_955+2insAACAGA
NM_007318.2:c.943+1_943+2insAACAGA	NP_015557.2:n.943+1_943+2insAACAGA
XM_005267864.1:c.955+1_955+2insAACAGA	XP_005267921.1:n.955+1_955+2insAACAGA
XM_005267866.1:c.943+1_943+2insAACAGA	XP_005267923.1:n.943+1_943+2insAACAGA
XM_011536971.1:c.955+1_955+2insAACAGA	XP_011535273.1:n.955+1_955+2insAACAGA
XM_011536972.1:c.955+1_955+2insAACAGA	XP_011535274.1:n.955+1_955+2insAACAGA
XM_011536973.1:c.943+1_943+2insAACAGA	XP_011535275.1:n.943+1_943+2insAACAGA
XM_011536974.1:c.943+1_943+2insAACAGA	XP_011535276.1:n.943+1_943+2insAACAGA
XM_005267864.3:c.955+1_955+2insAACAGA	XP_005267921.1:n.955+1_955+2insAACAGA
XM_005267866.2:c.943+1_943+2insAACAGA	XP_005267923.1:n.943+1_943+2insAACAGA
XM_011536972.2:c.955+1_955+2insAACAGA	XP_011535274.1:n.955+1_955+2insAACAGA
XM_011536973.2:c.943+1_943+2insAACAGA	XP_011535275.1:n.943+1_943+2insAACAGA
XM_011536974.2:c.943+1_943+2insAACAGA	XP_011535276.1:n.943+1_943+2insAACAGA
NM_000021.4:c.955+1_955+2insAACAGA MANE Select	NP_000012.1:n.955+1_955+2insAACAGA
NM_007318.3:c.943+1_943+2insAACAGA	NP_015557.2:n.943+1_943+2insAACAGA