Canonical Allele Identifier: CA913018530

Gene: APOE

Linked Data

• dbSNP Id: rs1969883625
• gnomAD v4: 19-44909100-ACGCCTGCAGGCCGAGGCCTTCCAGGCC-A
• MyVariant Identifiers: chr19:g.45412358_45412384del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44909106_44909132del , CM000681.2:g.44909106_44909132del	GRCh38
NC_000019.9:g.45412363_45412389del , CM000681.1:g.45412363_45412389del	GRCh37
NC_000019.8:g.50104203_50104229del	NCBI36
NG_007084.2:g.8325_8351del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252486.9:c.810_836del MANE Select	ENSP00000252486.3:p.Gln271_Leu279del
ENST00000252486.8:c.810_836del	ENSP00000252486.3:p.Gln271_Leu279del
NM_000041.3:c.810_836del	NP_000032.1:p.Gln271_Leu279del
NM_001302688.1:c.888_914del	NP_001289617.1:p.Gln297_Leu305del
NM_001302689.1:c.810_836del	NP_001289618.1:p.Gln271_Leu279del
NM_001302690.1:c.810_836del	NP_001289619.1:p.Gln271_Leu279del
NM_001302691.1:c.810_836del	NP_001289620.1:p.Gln271_Leu279del
NM_000041.4:c.810_836del MANE Select	NP_000032.1:p.Gln271_Leu279del
NM_001302688.2:c.888_914del	NP_001289617.1:p.Gln297_Leu305del
NM_001302689.2:c.810_836del	NP_001289618.1:p.Gln271_Leu279del
NM_001302691.2:c.810_836del	NP_001289620.1:p.Gln271_Leu279del
NM_001302690.2:c.810_836del	NP_001289619.1:p.Gln271_Leu279del