Canonical Allele Identifier: CA2960171084

Gene: APOE

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44908828_44908829insTA , CM000681.2:g.44908828_44908829insTA	GRCh38
NC_000019.9:g.45412085_45412086insTA , CM000681.1:g.45412085_45412086insTA	GRCh37
NC_000019.8:g.50103925_50103926insTA	NCBI36
NG_007084.2:g.8047_8048insTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252486.9:c.532_533insTA MANE Select	ENSP00000252486.3:p.Ala178ValfsTer?
ENST00000252486.8:c.532_533insTA	ENSP00000252486.3:p.Ala178ValfsTer?
ENST00000425718.1:c.532_533insTA	ENSP00000410423.1:p.Ala178ValfsTer?
ENST00000434152.5:c.610_611insTA	ENSP00000413653.2:p.Ala204ValfsTer?
ENST00000446996.5:c.532_533insTA	ENSP00000413135.1:p.Ala178ValfsTer?
NM_000041.3:c.532_533insTA	NP_000032.1:p.Ala178ValfsTer?
NM_001302688.1:c.610_611insTA	NP_001289617.1:p.Ala204ValfsTer?
NM_001302689.1:c.532_533insTA	NP_001289618.1:p.Ala178ValfsTer?
NM_001302690.1:c.532_533insTA	NP_001289619.1:p.Ala178ValfsTer?
NM_001302691.1:c.532_533insTA	NP_001289620.1:p.Ala178ValfsTer?
NM_000041.4:c.532_533insTA MANE Select	NP_000032.1:p.Ala178ValfsTer?
NM_001302688.2:c.610_611insTA	NP_001289617.1:p.Ala204ValfsTer?
NM_001302689.2:c.532_533insTA	NP_001289618.1:p.Ala178ValfsTer?
NM_001302691.2:c.532_533insTA	NP_001289620.1:p.Ala178ValfsTer?
NM_001302690.2:c.532_533insTA	NP_001289619.1:p.Ala178ValfsTer?