Canonical Allele Identifier: CA708424189

Gene: PSEN1

Linked Data

• dbSNP Id: rs1339475596
• gnomAD v3: 14-73136457-TC-T
• gnomAD v4: 14-73136457-TC-T
• MyVariant Identifiers: chr14:g.73603166del (hg19) ; chr14:g.73136458del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73136458del , CM000676.2:g.73136458del	GRCh38
NC_000014.8:g.73603166del , CM000676.1:g.73603166del	GRCh37
NC_000014.7:g.72672919del	NCBI36
NG_007386.2:g.4988del

Transcript Alleles

HGVS	Amino-acid change
ENST00000553599.6:c.-303del	ENSP00000452477.2:n.-303del
ENST00000555386.6:c.-261del	ENSP00000450845.1:n.-261del
ENST00000556011.6:c.-303del	ENSP00000451662.2:n.-303del
ENST00000556951.6:c.-257del	ENSP00000450551.2:n.-257del
ENST00000557293.6:c.-257del	ENSP00000451880.2:n.-257del
ENST00000697912.1:c.-261del	ENSP00000513477.1:n.-261del
ENST00000700265.1:c.-104+10del	ENSP00000514901.1:n.-104+10del
ENST00000700266.1:c.-261del	ENSP00000514902.1:n.-261del
ENST00000700267.1:c.-136+10del	ENSP00000514903.1:n.-136+10del
ENST00000700268.1:c.-257del	ENSP00000514904.1:n.-257del
ENST00000700269.1:c.-303del	ENSP00000514905.1:n.-303del
ENST00000700270.1:n.8del
ENST00000700271.1:c.-261del	ENSP00000514906.1:n.-261del
ENST00000700272.1:c.-257del	ENSP00000514907.1:n.-257del
ENST00000700273.1:c.-303del	ENSP00000514908.1:n.-303del
ENST00000700302.1:c.-261del	ENSP00000514929.1:n.-261del
ENST00000700303.1:c.-261del	ENSP00000514930.1:n.-261del
ENST00000324501.9:c.-261del	ENSP00000326366.5:n.-261del
ENST00000357710.8:c.-261del	ENSP00000350342.4:n.-261del
ENST00000394157.7:c.-261del	ENSP00000377712.3:n.-261del
ENST00000553599.5:c.-303del	ENSP00000452477.1:n.-303del
ENST00000553719.5:c.-257del	ENSP00000451674.1:n.-257del
ENST00000555254.5:c.-285del	ENSP00000450652.1:n.-285del
ENST00000556011.5:c.-303del	ENSP00000451662.1:n.-303del
ENST00000556533.5:c.-250del	ENSP00000452128.1:n.-250del
ENST00000556864.5:c.-360del	ENSP00000451588.1:n.-360del
ENST00000556951.5:c.-257del	ENSP00000450551.1:n.-257del
ENST00000557293.5:c.-257del	ENSP00000451880.1:n.-257del
ENST00000557356.5:c.-136+10del	ENSP00000451498.1:n.-136+10del
ENST00000560005.6:c.-363del	ENSP00000453466.1:n.-363del
NM_000021.3:c.-261del	NP_000012.1:n.-261del
NM_007318.2:c.-261del	NP_015557.2:n.-261del
XM_005267864.1:c.-257del	XP_005267921.1:n.-257del
XM_005267866.1:c.-257del	XP_005267923.1:n.-257del
XM_005267864.3:c.-257del	XP_005267921.1:n.-257del
XM_005267866.2:c.-257del	XP_005267923.1:n.-257del