Canonical Allele Identifier: CA2585715448

Gene: APOE

Linked Data

• gnomAD v4: 19-44908854-GGGCGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44908855_44908859del , CM000681.2:g.44908855_44908859del	GRCh38
NC_000019.9:g.45412112_45412116del , CM000681.1:g.45412112_45412116del	GRCh37
NC_000019.8:g.50103952_50103956del	NCBI36
NG_007084.2:g.8074_8078del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252486.9:c.559_563del MANE Select	ENSP00000252486.3:p.Gly187ArgfsTer?
ENST00000252486.8:c.559_563del	ENSP00000252486.3:p.Gly187ArgfsTer?
ENST00000425718.1:c.559_563del	ENSP00000410423.1:p.Gly187ArgfsTer?
ENST00000434152.5:c.637_641del	ENSP00000413653.2:p.Gly213ArgfsTer?
ENST00000446996.5:c.559_563del	ENSP00000413135.1:p.Gly187ArgfsTer?
NM_000041.3:c.559_563del	NP_000032.1:p.Gly187ArgfsTer?
NM_001302688.1:c.637_641del	NP_001289617.1:p.Gly213ArgfsTer?
NM_001302689.1:c.559_563del	NP_001289618.1:p.Gly187ArgfsTer?
NM_001302690.1:c.559_563del	NP_001289619.1:p.Gly187ArgfsTer?
NM_001302691.1:c.559_563del	NP_001289620.1:p.Gly187ArgfsTer?
NM_000041.4:c.559_563del MANE Select	NP_000032.1:p.Gly187ArgfsTer?
NM_001302688.2:c.637_641del	NP_001289617.1:p.Gly213ArgfsTer?
NM_001302689.2:c.559_563del	NP_001289618.1:p.Gly187ArgfsTer?
NM_001302691.2:c.559_563del	NP_001289620.1:p.Gly187ArgfsTer?
NM_001302690.2:c.559_563del	NP_001289619.1:p.Gly187ArgfsTer?