Canonical Allele Identifier: CA057799
Gene: APOB HGNC NCBI

Linked Data

dbSNP Id: rs753345874
ExAC: 2:21224569 AAAG / A
gnomAD v2: 2-21224569-AAAG-A
gnomAD v4: 2-21001697-AAAG-A
MyVariant Identifiers: chr2:g.21224570_21224572del (hg19) chr2:g.21001698_21001700del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21001703_21001705del , CM000664.2:g.21001703_21001705del GRCh38
NC_000002.11:g.21224575_21224577del , CM000664.1:g.21224575_21224577del GRCh37
NC_000002.10:g.21078080_21078082del NCBI36
NG_011793.1:g.47374_47376del

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.*30_*32del MANE Select ENSP00000233242.1:n.*30_*32del
ENST00000616098.4:c.13720_13722del ENSP00000477990.1:n.13720_13722del
NM_000384.2:c.*30_*32del NP_000375.2:n.*30_*32del
XM_011532809.1:c.5870-2427_5870-2425del XP_011531111.1:n.5870-2427_5870-2425del
NM_000384.3:c.*30_*32del MANE Select NP_000375.3:n.*30_*32del
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