Canonical Allele Identifier: CA615191103

Gene: PSEN1

Linked Data

• dbSNP Id: rs1322043474
• gnomAD v2: 14:73637451 CCTTGATTCTGCTGAGAAT / C
• MyVariant Identifiers: chr14:g.73637452_73637469del (hg19) ; chr14:g.73170744_73170761del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73170746_73170763del , CM000676.2:g.73170746_73170763del	GRCh38
NC_000014.8:g.73637454_73637471del , CM000676.1:g.73637454_73637471del	GRCh37
NC_000014.7:g.72707207_72707224del	NCBI36
NG_007386.2:g.39276_39293del

Transcript Alleles

HGVS	Amino-acid change
ENST00000324501.10:c.88-51_88-34del MANE Select	ENSP00000326366.5:n.88-51_88-34del
ENST00000324501.9:c.88-51_88-34del	ENSP00000326366.5:n.88-51_88-34del
ENST00000357710.8:c.76-51_76-34del	ENSP00000350342.4:n.76-51_76-34del
ENST00000394157.7:c.88-51_88-34del	ENSP00000377712.3:n.88-51_88-34del
ENST00000394164.5:c.76-51_76-34del	ENSP00000377719.1:n.76-51_76-34del
ENST00000406768.1:c.-189-51_-189-34del	ENSP00000385948.1:n.-189-51_-189-34del
ENST00000553447.6:n.485-51_485-34del
ENST00000553599.5:c.76-51_76-34del	ENSP00000452477.1:n.76-51_76-34del
ENST00000553719.5:c.76-51_76-34del	ENSP00000451674.1:n.76-51_76-34del
ENST00000553855.5:c.88-51_88-34del	ENSP00000452242.1:n.88-51_88-34del
ENST00000554131.5:c.88-51_88-34del	ENSP00000451915.1:n.88-51_88-34del
ENST00000555254.5:c.88-51_88-34del	ENSP00000450652.1:n.88-51_88-34del
ENST00000555386.5:c.76-51_76-34del	ENSP00000450845.1:n.76-51_76-34del
ENST00000556066.1:c.76-51_76-34del	ENSP00000452267.1:n.76-51_76-34del
ENST00000556533.5:c.76-51_76-34del	ENSP00000452128.1:n.76-51_76-34del
ENST00000556864.5:c.76-51_76-34del	ENSP00000451588.1:n.76-51_76-34del
ENST00000556951.5:c.76-51_76-34del	ENSP00000450551.1:n.76-51_76-34del
ENST00000557037.5:c.76-51_76-34del	ENSP00000451347.1:n.76-51_76-34del
ENST00000557293.5:c.88-51_88-34del	ENSP00000451880.1:n.88-51_88-34del
ENST00000557356.5:c.76-51_76-34del	ENSP00000451498.1:n.76-51_76-34del
ENST00000557511.5:c.88-51_88-34del	ENSP00000451429.1:n.88-51_88-34del
ENST00000559361.5:c.*32-51_*32-34del	ENSP00000454156.1:n.*32-51_*32-34del
ENST00000560005.6:c.76-51_76-34del	ENSP00000453466.1:n.76-51_76-34del
NM_000021.3:c.88-51_88-34del	NP_000012.1:n.88-51_88-34del
NM_007318.2:c.76-51_76-34del	NP_015557.2:n.76-51_76-34del
XM_005267864.1:c.88-51_88-34del	XP_005267921.1:n.88-51_88-34del
XM_005267866.1:c.76-51_76-34del	XP_005267923.1:n.76-51_76-34del
XM_011536971.1:c.88-51_88-34del	XP_011535273.1:n.88-51_88-34del
XM_011536972.1:c.88-51_88-34del	XP_011535274.1:n.88-51_88-34del
XM_011536973.1:c.76-51_76-34del	XP_011535275.1:n.76-51_76-34del
XM_011536974.1:c.76-51_76-34del	XP_011535276.1:n.76-51_76-34del
XM_005267864.3:c.88-51_88-34del	XP_005267921.1:n.88-51_88-34del
XM_005267866.2:c.76-51_76-34del	XP_005267923.1:n.76-51_76-34del
XM_011536972.2:c.88-51_88-34del	XP_011535274.1:n.88-51_88-34del
XM_011536973.2:c.76-51_76-34del	XP_011535275.1:n.76-51_76-34del
XM_011536974.2:c.76-51_76-34del	XP_011535276.1:n.76-51_76-34del
NM_000021.4:c.88-51_88-34del MANE Select	NP_000012.1:n.88-51_88-34del
NM_007318.3:c.76-51_76-34del	NP_015557.2:n.76-51_76-34del