Canonical Allele Identifier: CA882664505

Gene: APOE

Linked Data

• dbSNP Id: rs1194516750
• MyVariant Identifiers: chr19:g.45412248_45412249insGC (hg19) ; chr19:g.44908991_44908992insGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44908999_44909000dup , CM000681.2:g.44908999_44909000dup	GRCh38
NC_000019.9:g.45412256_45412257dup , CM000681.1:g.45412256_45412257dup	GRCh37
NC_000019.8:g.50104096_50104097dup	NCBI36
NG_007084.2:g.8218_8219dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252486.9:c.703_704dup MANE Select	ENSP00000252486.3:p.Met236GlyfsTer16
ENST00000252486.8:c.703_704dup	ENSP00000252486.3:p.Met236GlyfsTer16
ENST00000434152.5:c.781_782dup	ENSP00000413653.2:p.Met262GlyfsTer?
NM_000041.3:c.703_704dup	NP_000032.1:p.Met236GlyfsTer16
NM_001302688.1:c.781_782dup	NP_001289617.1:p.Met262GlyfsTer16
NM_001302689.1:c.703_704dup	NP_001289618.1:p.Met236GlyfsTer16
NM_001302690.1:c.703_704dup	NP_001289619.1:p.Met236GlyfsTer16
NM_001302691.1:c.703_704dup	NP_001289620.1:p.Met236GlyfsTer16
NM_000041.4:c.703_704dup MANE Select	NP_000032.1:p.Met236GlyfsTer16
NM_001302688.2:c.781_782dup	NP_001289617.1:p.Met262GlyfsTer16
NM_001302689.2:c.703_704dup	NP_001289618.1:p.Met236GlyfsTer16
NM_001302691.2:c.703_704dup	NP_001289620.1:p.Met236GlyfsTer16
NM_001302690.2:c.703_704dup	NP_001289619.1:p.Met236GlyfsTer16