Canonical Allele Identifier: CA2493472889
Gene: APOB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21002263_21002264delinsCT , CM000664.2:g.21002263_21002264delinsCT GRCh38
NC_000002.11:g.21225135_21225136delinsCT , CM000664.1:g.21225135_21225136delinsCT GRCh37
NC_000002.10:g.21078640_21078641delinsCT NCBI36
NG_011793.1:g.46810_46811delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.13158_13159delinsAG MANE Select ENSP00000233242.1:p.Glu4386=
ENST00000616098.4:c.13156_13157delinsAG ENSP00000477990.1:n.13156_13157delinsAG
NM_000384.2:c.13158_13159delinsAG NP_000375.2:p.Glu4386=
XM_011532809.1:c.5870-2991_5870-2990delinsAG XP_011531111.1:n.5870-2991_5870-2990delinsAG
NM_000384.3:c.13158_13159delinsAG MANE Select NP_000375.3:p.Glu4386=