Canonical Allele Identifier: CA633314769

Gene: APOE

Linked Data

• dbSNP Id: rs1324589064
• gnomAD v2: 19-45411389-G-GTC
• gnomAD v3: 19-44908132-G-GTC
• gnomAD v4: 19-44908132-G-GTC
• MyVariant Identifiers: chr19:g.45411389_45411390insTC (hg19) ; chr19:g.44908132_44908133insTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44908142_44908143dup , CM000681.2:g.44908142_44908143dup	GRCh38
NC_000019.9:g.45411399_45411400dup , CM000681.1:g.45411399_45411400dup	GRCh37
NC_000019.8:g.50103239_50103240dup	NCBI36
NG_007084.2:g.7361_7362dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252486.9:c.236+190_236+191dup MANE Select	ENSP00000252486.3:n.236+190_236+191dup
ENST00000252486.8:c.236+190_236+191dup	ENSP00000252486.3:n.236+190_236+191dup
ENST00000425718.1:c.236+190_236+191dup	ENSP00000410423.1:n.236+190_236+191dup
ENST00000434152.5:c.314+190_314+191dup	ENSP00000413653.2:n.314+190_314+191dup
ENST00000446996.5:c.236+190_236+191dup	ENSP00000413135.1:n.236+190_236+191dup
NM_000041.3:c.236+190_236+191dup	NP_000032.1:n.236+190_236+191dup
NM_001302688.1:c.314+190_314+191dup	NP_001289617.1:n.314+190_314+191dup
NM_001302689.1:c.236+190_236+191dup	NP_001289618.1:n.236+190_236+191dup
NM_001302690.1:c.236+190_236+191dup	NP_001289619.1:n.236+190_236+191dup
NM_001302691.1:c.236+190_236+191dup	NP_001289620.1:n.236+190_236+191dup
NM_000041.4:c.236+190_236+191dup MANE Select	NP_000032.1:n.236+190_236+191dup
NM_001302688.2:c.314+190_314+191dup	NP_001289617.1:n.314+190_314+191dup
NM_001302689.2:c.236+190_236+191dup	NP_001289618.1:n.236+190_236+191dup
NM_001302691.2:c.236+190_236+191dup	NP_001289620.1:n.236+190_236+191dup
NM_001302690.2:c.236+190_236+191dup	NP_001289619.1:n.236+190_236+191dup