Canonical Allele Identifier: CA645606702

Gene: APOE

Linked Data

• COSMIC: COSM6085369

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44909207_44909208delinsAA , CM000681.2:g.44909207_44909208delinsAA	GRCh38
NC_000019.9:g.45412464_45412465delinsAA , CM000681.1:g.45412464_45412465delinsAA	GRCh37
NC_000019.8:g.50104304_50104305delinsAA	NCBI36
NG_007084.2:g.8426_8427delinsAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252486.9:c.911_912delinsAA MANE Select	ENSP00000252486.3:p.Ala304Glu
ENST00000252486.8:c.911_912delinsAA	ENSP00000252486.3:p.Ala304Glu
NM_000041.3:c.911_912delinsAA	NP_000032.1:p.Ala304Glu
NM_001302688.1:c.989_990delinsAA	NP_001289617.1:p.Ala330Glu
NM_001302689.1:c.911_912delinsAA	NP_001289618.1:p.Ala304Glu
NM_001302690.1:c.911_912delinsAA	NP_001289619.1:p.Ala304Glu
NM_001302691.1:c.911_912delinsAA	NP_001289620.1:p.Ala304Glu
NM_000041.4:c.911_912delinsAA MANE Select	NP_000032.1:p.Ala304Glu
NM_001302688.2:c.989_990delinsAA	NP_001289617.1:p.Ala330Glu
NM_001302689.2:c.911_912delinsAA	NP_001289618.1:p.Ala304Glu
NM_001302691.2:c.911_912delinsAA	NP_001289620.1:p.Ala304Glu
NM_001302690.2:c.911_912delinsAA	NP_001289619.1:p.Ala304Glu