Canonical Allele Identifier: CA2493472692
Gene: APOB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21001939_21001942delinsACTG , CM000664.2:g.21001939_21001942delinsACTG GRCh38
NC_000002.11:g.21224811_21224814delinsACTG , CM000664.1:g.21224811_21224814delinsACTG GRCh37
NC_000002.10:g.21078316_21078319delinsACTG NCBI36
NG_011793.1:g.47132_47135delinsCAGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.13480_13483delinsCAGT MANE Select ENSP00000233242.1:p.Gln4494=
ENST00000616098.4:c.13478_13481delinsCAGT ENSP00000477990.1:n.13478_13481delinsCAGT
NM_000384.2:c.13480_13483delinsCAGT NP_000375.2:p.Gln4494=
XM_011532809.1:c.5870-2669_5870-2666delinsCAGT XP_011531111.1:n.5870-2669_5870-2666delinsCAGT
NM_000384.3:c.13480_13483delinsCAGT MANE Select NP_000375.3:p.Gln4494=