Canonical Allele Identifier: CA633478344

Gene: APOE

Linked Data

• dbSNP Id: rs1568616535
• gnomAD v2: 19-45411713-CCCCATCTCGCCCGCCCCATCCCAG-C
• gnomAD v3: 19-44908456-CCCCATCTCGCCCGCCCCATCCCAG-C
• gnomAD v4: 19-44908456-CCCCATCTCGCCCGCCCCATCCCAG-C
• MyVariant Identifiers: chr19:g.45411714_45411737del (hg19) ; chr19:g.44908457_44908480del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44908460_44908483del , CM000681.2:g.44908460_44908483del	GRCh38
NC_000019.9:g.45411717_45411740del , CM000681.1:g.45411717_45411740del	GRCh37
NC_000019.8:g.50103557_50103580del	NCBI36
NG_007084.2:g.7679_7702del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252486.9:c.237-73_237-50del MANE Select	ENSP00000252486.3:n.237-73_237-50del
ENST00000252486.8:c.237-73_237-50del	ENSP00000252486.3:n.237-73_237-50del
ENST00000425718.1:c.237-73_237-50del	ENSP00000410423.1:n.237-73_237-50del
ENST00000434152.5:c.315-73_315-50del	ENSP00000413653.2:n.315-73_315-50del
ENST00000446996.5:c.237-73_237-50del	ENSP00000413135.1:n.237-73_237-50del
NM_000041.3:c.237-73_237-50del	NP_000032.1:n.237-73_237-50del
NM_001302688.1:c.315-73_315-50del	NP_001289617.1:n.315-73_315-50del
NM_001302689.1:c.237-73_237-50del	NP_001289618.1:n.237-73_237-50del
NM_001302690.1:c.237-73_237-50del	NP_001289619.1:n.237-73_237-50del
NM_001302691.1:c.237-73_237-50del	NP_001289620.1:n.237-73_237-50del
NM_000041.4:c.237-73_237-50del MANE Select	NP_000032.1:n.237-73_237-50del
NM_001302688.2:c.315-73_315-50del	NP_001289617.1:n.315-73_315-50del
NM_001302689.2:c.237-73_237-50del	NP_001289618.1:n.237-73_237-50del
NM_001302691.2:c.237-73_237-50del	NP_001289620.1:n.237-73_237-50del
NM_001302690.2:c.237-73_237-50del	NP_001289619.1:n.237-73_237-50del