Canonical Allele Identifier: CA2585715470

Gene: APOE

Linked Data

• gnomAD v4: 19-44909148-G-GC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44909152dup , CM000681.2:g.44909152dup	GRCh38
NC_000019.9:g.45412409dup , CM000681.1:g.45412409dup	GRCh37
NC_000019.8:g.50104249dup	NCBI36
NG_007084.2:g.8371dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000252486.9:c.856dup MANE Select	ENSP00000252486.3:p.Leu286ProfsTer?
ENST00000252486.8:c.856dup	ENSP00000252486.3:p.Leu286ProfsTer?
NM_000041.3:c.856dup	NP_000032.1:p.Leu286ProfsTer?
NM_001302688.1:c.934dup	NP_001289617.1:p.Leu312ProfsTer?
NM_001302689.1:c.856dup	NP_001289618.1:p.Leu286ProfsTer?
NM_001302690.1:c.856dup	NP_001289619.1:p.Leu286ProfsTer?
NM_001302691.1:c.856dup	NP_001289620.1:p.Leu286ProfsTer?
NM_000041.4:c.856dup MANE Select	NP_000032.1:p.Leu286ProfsTer?
NM_001302688.2:c.934dup	NP_001289617.1:p.Leu312ProfsTer?
NM_001302689.2:c.856dup	NP_001289618.1:p.Leu286ProfsTer?
NM_001302691.2:c.856dup	NP_001289620.1:p.Leu286ProfsTer?
NM_001302690.2:c.856dup	NP_001289619.1:p.Leu286ProfsTer?