Canonical Allele Identifier: CA996247289

Gene: APOE

Linked Data

• dbSNP Id: rs1969845257
• gnomAD v3: 19-44908130-TTGTCTCTCTCTCTTCCCTTCTGACTCAGTCTCTCACACTCGTCCTGGCTC-T
• gnomAD v4: 19-44908130-TTGTCTCTCTCTCTTCCCTTCTGACTCAGTCTCTCACACTCGTCCTGGCTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44908138_44908187del , CM000681.2:g.44908138_44908187del	GRCh38
NC_000019.9:g.45411395_45411444del , CM000681.1:g.45411395_45411444del	GRCh37
NC_000019.8:g.50103235_50103284del	NCBI36
NG_007084.2:g.7357_7406del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252486.9:c.236+186_236+235del MANE Select	ENSP00000252486.3:n.236+186_236+235del
ENST00000252486.8:c.236+186_236+235del	ENSP00000252486.3:n.236+186_236+235del
ENST00000425718.1:c.236+186_236+235del	ENSP00000410423.1:n.236+186_236+235del
ENST00000434152.5:c.314+186_314+235del	ENSP00000413653.2:n.314+186_314+235del
ENST00000446996.5:c.236+186_236+235del	ENSP00000413135.1:n.236+186_236+235del
NM_000041.3:c.236+186_236+235del	NP_000032.1:n.236+186_236+235del
NM_001302688.1:c.314+186_314+235del	NP_001289617.1:n.314+186_314+235del
NM_001302689.1:c.236+186_236+235del	NP_001289618.1:n.236+186_236+235del
NM_001302690.1:c.236+186_236+235del	NP_001289619.1:n.236+186_236+235del
NM_001302691.1:c.236+186_236+235del	NP_001289620.1:n.236+186_236+235del
NM_000041.4:c.236+186_236+235del MANE Select	NP_000032.1:n.236+186_236+235del
NM_001302688.2:c.314+186_314+235del	NP_001289617.1:n.314+186_314+235del
NM_001302689.2:c.236+186_236+235del	NP_001289618.1:n.236+186_236+235del
NM_001302691.2:c.236+186_236+235del	NP_001289620.1:n.236+186_236+235del
NM_001302690.2:c.236+186_236+235del	NP_001289619.1:n.236+186_236+235del