Canonical Allele Identifier: CA615005394

Gene: PSEN1

Linked Data

• dbSNP Id: rs1457838650
• gnomAD v2: 14-73689537-CCTT-C
• gnomAD v3: 14-73222829-CCTT-C
• gnomAD v4: 14-73222829-CCTT-C
• MyVariant Identifiers: chr14:g.73689538_73689540del (hg19) ; chr14:g.73222830_73222832del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73222832_73222834del , CM000676.2:g.73222832_73222834del	GRCh38
NC_000014.8:g.73689540_73689542del , CM000676.1:g.73689540_73689542del	GRCh37
NC_000014.7:g.72759293_72759295del	NCBI36
NG_007386.2:g.91362_91364del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553599.6:c.*3543_*3545del	ENSP00000452477.2:n.*3543_*3545del
ENST00000554131.6:c.*3543_*3545del	ENSP00000451915.2:n.*3543_*3545del
ENST00000554995.2:n.5697_5699del
ENST00000556066.2:n.5373_5375del
ENST00000556951.6:c.*3543_*3545del	ENSP00000450551.2:n.*3543_*3545del
ENST00000557293.6:c.*3543_*3545del	ENSP00000451880.2:n.*3543_*3545del
ENST00000559361.6:c.*4891_*4893del	ENSP00000454156.1:n.*4891_*4893del
ENST00000697912.1:c.*4135_*4137del	ENSP00000513477.1:n.*4135_*4137del
ENST00000697913.1:n.10497_10499del
ENST00000697915.1:n.4304_4306del
ENST00000700265.1:c.*3543_*3545del	ENSP00000514901.1:n.*3543_*3545del
ENST00000700266.1:c.*5159_*5161del	ENSP00000514902.1:n.*5159_*5161del
ENST00000700267.1:c.*3543_*3545del	ENSP00000514903.1:n.*3543_*3545del
ENST00000700268.1:c.*3543_*3545del	ENSP00000514904.1:n.*3543_*3545del
ENST00000700269.1:c.*3543_*3545del	ENSP00000514905.1:n.*3543_*3545del
ENST00000700271.1:c.*3543_*3545del	ENSP00000514906.1:n.*3543_*3545del
ENST00000700272.1:c.*4891_*4893del	ENSP00000514907.1:n.*4891_*4893del
ENST00000700273.1:c.*3543_*3545del	ENSP00000514908.1:n.*3543_*3545del
ENST00000700302.1:c.*3763_*3765del	ENSP00000514929.1:n.*3763_*3765del
ENST00000700303.1:c.*4609_*4611del	ENSP00000514930.1:n.*4609_*4611del
ENST00000700304.1:c.*4891_*4893del	ENSP00000514931.1:n.*4891_*4893del
ENST00000700305.1:c.*4505_*4507del	ENSP00000514932.1:n.*4505_*4507del
ENST00000700306.1:c.*3543_*3545del	ENSP00000514933.1:n.*3543_*3545del
ENST00000700307.1:c.*3543_*3545del	ENSP00000514934.1:n.*3543_*3545del
ENST00000700308.1:c.*4891_*4893del	ENSP00000514935.1:n.*4891_*4893del
ENST00000700309.1:c.*5036_*5038del	ENSP00000514936.1:n.*5036_*5038del
ENST00000700310.1:c.*3902_*3904del	ENSP00000514937.1:n.*3902_*3904del
ENST00000700311.1:c.*3763_*3765del	ENSP00000514938.1:n.*3763_*3765del
ENST00000700312.1:c.*3543_*3545del	ENSP00000514939.1:n.*3543_*3545del
ENST00000700313.1:c.*3543_*3545del	ENSP00000514940.1:n.*3543_*3545del
ENST00000700314.1:c.*4886_*4888del	ENSP00000514941.1:n.*4886_*4888del
ENST00000700315.1:c.*4505_*4507del	ENSP00000514942.1:n.*4505_*4507del
ENST00000700316.1:c.*4727_*4729del	ENSP00000514943.1:n.*4727_*4729del
ENST00000700317.1:c.*3543_*3545del	ENSP00000514944.1:n.*3543_*3545del
ENST00000700318.1:c.*4609_*4611del	ENSP00000514945.1:n.*4609_*4611del
ENST00000700319.1:c.*4387_*4389del	ENSP00000514946.1:n.*4387_*4389del
ENST00000700320.1:c.*3543_*3545del	ENSP00000514947.1:n.*3543_*3545del
ENST00000700321.1:c.*3543_*3545del	ENSP00000514948.1:n.*3543_*3545del
ENST00000700322.1:c.*3543_*3545del	ENSP00000514949.1:n.*3543_*3545del
ENST00000700323.1:c.*3543_*3545del	ENSP00000514950.1:n.*3543_*3545del
ENST00000700324.1:c.*3543_*3545del	ENSP00000514951.1:n.*3543_*3545del
ENST00000700375.1:c.*3543_*3545del	ENSP00000514966.1:n.*3543_*3545del
ENST00000700377.1:c.*4415_*4417del	ENSP00000514967.1:n.*4415_*4417del
ENST00000700378.1:c.*3543_*3545del	ENSP00000514968.1:n.*3543_*3545del
ENST00000700379.1:n.5345_5347del
ENST00000700390.1:n.6658_6660del
ENST00000700404.1:n.5946_5948del
ENST00000700436.1:c.*3902_*3904del	ENSP00000514987.1:n.*3902_*3904del
ENST00000700437.1:c.*3543_*3545del	ENSP00000514988.1:n.*3543_*3545del
ENST00000700468.1:c.*3543_*3545del	ENSP00000515001.1:n.*3543_*3545del
ENST00000700469.1:c.*3543_*3545del	ENSP00000515002.1:n.*3543_*3545del
ENST00000324501.10:c.*3543_*3545del MANE Select	ENSP00000326366.5:n.*3543_*3545del
ENST00000324501.9:c.*3543_*3545del	ENSP00000326366.5:n.*3543_*3545del
NM_000021.3:c.*3543_*3545del	NP_000012.1:n.*3543_*3545del
NM_007318.2:c.*3543_*3545del	NP_015557.2:n.*3543_*3545del
XM_005267864.1:c.*3543_*3545del	XP_005267921.1:n.*3543_*3545del
XM_005267866.1:c.*3543_*3545del	XP_005267923.1:n.*3543_*3545del
XM_011536971.1:c.*3543_*3545del	XP_011535273.1:n.*3543_*3545del
XM_011536972.1:c.*3543_*3545del	XP_011535274.1:n.*3543_*3545del
XM_011536973.1:c.*3543_*3545del	XP_011535275.1:n.*3543_*3545del
XM_011536974.1:c.*3543_*3545del	XP_011535276.1:n.*3543_*3545del
NM_000021.4:c.*3543_*3545del MANE Select	NP_000012.1:n.*3543_*3545del
NM_007318.3:c.*3543_*3545del	NP_015557.2:n.*3543_*3545del