Canonical Allele Identifier: CA633478463

Gene: APOE

Linked Data

• dbSNP Id: rs1568617891
• gnomAD v2: 19-45412276-CCGGACCCGCGACCGCCTGGACGAGGTGAAGGAGCAGGTGG-C
• gnomAD v4: 19-44909019-CCGGACCCGCGACCGCCTGGACGAGGTGAAGGAGCAGGTGG-C
• MyVariant Identifiers: chr19:g.45412277_45412316del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44909024_44909063del , CM000681.2:g.44909024_44909063del	GRCh38
NC_000019.9:g.45412281_45412320del , CM000681.1:g.45412281_45412320del	GRCh37
NC_000019.8:g.50104121_50104160del	NCBI36
NG_007084.2:g.8243_8282del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252486.9:c.728_767del MANE Select	ENSP00000252486.3:p.Thr243ArgfsTer?
ENST00000252486.8:c.728_767del	ENSP00000252486.3:p.Thr243ArgfsTer?
NM_000041.3:c.728_767del	NP_000032.1:p.Thr243ArgfsTer?
NM_001302688.1:c.806_845del	NP_001289617.1:p.Thr269ArgfsTer?
NM_001302689.1:c.728_767del	NP_001289618.1:p.Thr243ArgfsTer?
NM_001302690.1:c.728_767del	NP_001289619.1:p.Thr243ArgfsTer?
NM_001302691.1:c.728_767del	NP_001289620.1:p.Thr243ArgfsTer?
NM_000041.4:c.728_767del MANE Select	NP_000032.1:p.Thr243ArgfsTer?
NM_001302688.2:c.806_845del	NP_001289617.1:p.Thr269ArgfsTer?
NM_001302689.2:c.728_767del	NP_001289618.1:p.Thr243ArgfsTer?
NM_001302691.2:c.728_767del	NP_001289620.1:p.Thr243ArgfsTer?
NM_001302690.2:c.728_767del	NP_001289619.1:p.Thr243ArgfsTer?