Canonical Allele Identifier: CA2625554119

Gene: PSEN1

Linked Data

• gnomAD v4: 14-73136714-CGGTTGGGGCTGGGGAACCCCGTGTGGGAAACCAGGAGGGGCGGCCCGTTTCTCGGGCTTCGGGCGCGGCCG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73136718_73136788del , CM000676.2:g.73136718_73136788del	GRCh38
NC_000014.8:g.73603426_73603496del , CM000676.1:g.73603426_73603496del	GRCh37
NC_000014.7:g.72673179_72673249del	NCBI36
NG_007386.2:g.5248_5318del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553447.7:c.-177+139_-177+209del	ENSP00000514869.1:n.-177+139_-177+209del
ENST00000553599.6:c.-178+135_-178+205del	ENSP00000452477.2:n.-178+135_-178+205del
ENST00000554131.6:c.-177+135_-177+205del	ENSP00000451915.2:n.-177+135_-177+205del
ENST00000555386.6:c.-136+135_-136+205del	ENSP00000450845.1:n.-136+135_-136+205del
ENST00000556011.6:c.-182+139_-182+209del	ENSP00000451662.2:n.-182+139_-182+209del
ENST00000556951.6:c.-136+139_-136+209del	ENSP00000450551.2:n.-136+139_-136+209del
ENST00000557293.6:c.-136+139_-136+209del	ENSP00000451880.2:n.-136+139_-136+209del
ENST00000559361.6:c.-136+139_-136+209del	ENSP00000454156.1:n.-136+139_-136+209del
ENST00000697912.1:c.-136+135_-136+205del	ENSP00000513477.1:n.-136+135_-136+205del
ENST00000697913.1:n.119+135_119+205del
ENST00000697914.1:n.77+135_77+205del
ENST00000700265.1:c.-104+270_-104+340del	ENSP00000514901.1:n.-104+270_-104+340del
ENST00000700266.1:c.-136+135_-136+205del	ENSP00000514902.1:n.-136+135_-136+205del
ENST00000700267.1:c.-136+270_-136+340del	ENSP00000514903.1:n.-136+270_-136+340del
ENST00000700268.1:c.-136+139_-136+209del	ENSP00000514904.1:n.-136+139_-136+209del
ENST00000700269.1:c.-182+139_-182+209del	ENSP00000514905.1:n.-182+139_-182+209del
ENST00000700270.1:n.133+135_133+205del
ENST00000700271.1:c.-136+135_-136+205del	ENSP00000514906.1:n.-136+135_-136+205del
ENST00000700272.1:c.-136+139_-136+209del	ENSP00000514907.1:n.-136+139_-136+209del
ENST00000700273.1:c.-182+139_-182+209del	ENSP00000514908.1:n.-182+139_-182+209del
ENST00000700302.1:c.-136+135_-136+205del	ENSP00000514929.1:n.-136+135_-136+205del
ENST00000700303.1:c.-136+135_-136+205del	ENSP00000514930.1:n.-136+135_-136+205del
ENST00000700304.1:c.-136+135_-136+205del	ENSP00000514931.1:n.-136+135_-136+205del
ENST00000700305.1:c.-136+135_-136+205del	ENSP00000514932.1:n.-136+135_-136+205del
ENST00000700306.1:c.-178+135_-178+205del	ENSP00000514933.1:n.-178+135_-178+205del
ENST00000700307.1:c.-136+135_-136+205del	ENSP00000514934.1:n.-136+135_-136+205del
ENST00000700308.1:c.-136+135_-136+205del	ENSP00000514935.1:n.-136+135_-136+205del
ENST00000700309.1:c.-136+135_-136+205del	ENSP00000514936.1:n.-136+135_-136+205del
ENST00000700310.1:c.-136+135_-136+205del	ENSP00000514937.1:n.-136+135_-136+205del
ENST00000700311.1:c.-177+135_-177+205del	ENSP00000514938.1:n.-177+135_-177+205del
ENST00000700312.1:c.-289+139_-289+209del	ENSP00000514939.1:n.-289+139_-289+209del
ENST00000700313.1:c.-177+139_-177+209del	ENSP00000514940.1:n.-177+139_-177+209del
ENST00000700314.1:c.-136+135_-136+205del	ENSP00000514941.1:n.-136+135_-136+205del
ENST00000700315.1:c.-136+135_-136+205del	ENSP00000514942.1:n.-136+135_-136+205del
ENST00000700316.1:c.-136+135_-136+205del	ENSP00000514943.1:n.-136+135_-136+205del
ENST00000700317.1:c.-104+135_-104+205del	ENSP00000514944.1:n.-104+135_-104+205del
ENST00000700318.1:c.-136+135_-136+205del	ENSP00000514945.1:n.-136+135_-136+205del
ENST00000700319.1:c.-136+135_-136+205del	ENSP00000514946.1:n.-136+135_-136+205del
ENST00000700320.1:c.-136+135_-136+205del	ENSP00000514947.1:n.-136+135_-136+205del
ENST00000700321.1:c.-136+133_-136+203del	ENSP00000514948.1:n.-136+133_-136+203del
ENST00000700322.1:c.-104+135_-104+205del	ENSP00000514949.1:n.-104+135_-104+205del
ENST00000700323.1:c.-182+135_-182+205del	ENSP00000514950.1:n.-182+135_-182+205del
ENST00000700324.1:c.-177+135_-177+205del	ENSP00000514951.1:n.-177+135_-177+205del
ENST00000700374.1:n.123+135_123+205del
ENST00000700375.1:c.-235+135_-235+205del	ENSP00000514966.1:n.-235+135_-235+205del
ENST00000700388.1:n.112+135_112+205del
ENST00000700389.1:c.-301+135_-301+205del	ENSP00000514970.1:n.-301+135_-301+205del
ENST00000324501.10:c.-136+135_-136+205del MANE Select	ENSP00000326366.5:n.-136+135_-136+205del
ENST00000324501.9:c.-136+135_-136+205del	ENSP00000326366.5:n.-136+135_-136+205del
ENST00000357710.8:c.-136+135_-136+205del	ENSP00000350342.4:n.-136+135_-136+205del
ENST00000394157.7:c.-136+135_-136+205del	ENSP00000377712.3:n.-136+135_-136+205del
ENST00000553447.6:n.103+139_103+209del
ENST00000553599.5:c.-178+135_-178+205del	ENSP00000452477.1:n.-178+135_-178+205del
ENST00000553719.5:c.-136+139_-136+209del	ENSP00000451674.1:n.-136+139_-136+209del
ENST00000554131.5:c.-177+135_-177+205del	ENSP00000451915.1:n.-177+135_-177+205del
ENST00000555254.5:c.-160+135_-160+205del	ENSP00000450652.1:n.-160+135_-160+205del
ENST00000556011.5:c.-182+139_-182+209del	ENSP00000451662.1:n.-182+139_-182+209del
ENST00000556533.5:c.-125+135_-125+205del	ENSP00000452128.1:n.-125+135_-125+205del
ENST00000556864.5:c.-235+135_-235+205del	ENSP00000451588.1:n.-235+135_-235+205del
ENST00000556951.5:c.-136+139_-136+209del	ENSP00000450551.1:n.-136+139_-136+209del
ENST00000557037.5:c.-325+135_-325+205del	ENSP00000451347.1:n.-325+135_-325+205del
ENST00000557293.5:c.-136+139_-136+209del	ENSP00000451880.1:n.-136+139_-136+209del
ENST00000557356.5:c.-136+270_-136+340del	ENSP00000451498.1:n.-136+270_-136+340del
ENST00000559361.5:c.-136+139_-136+209del	ENSP00000454156.1:n.-136+139_-136+209del
ENST00000560005.6:c.-238+135_-238+205del	ENSP00000453466.1:n.-238+135_-238+205del
NM_000021.3:c.-136+135_-136+205del	NP_000012.1:n.-136+135_-136+205del
NM_007318.2:c.-136+135_-136+205del	NP_015557.2:n.-136+135_-136+205del
XM_005267864.1:c.-136+139_-136+209del	XP_005267921.1:n.-136+139_-136+209del
XM_005267866.1:c.-136+139_-136+209del	XP_005267923.1:n.-136+139_-136+209del
XM_005267864.3:c.-136+139_-136+209del	XP_005267921.1:n.-136+139_-136+209del
XM_005267866.2:c.-136+139_-136+209del	XP_005267923.1:n.-136+139_-136+209del
NM_000021.4:c.-136+135_-136+205del MANE Select	NP_000012.1:n.-136+135_-136+205del
NM_007318.3:c.-136+135_-136+205del	NP_015557.2:n.-136+135_-136+205del