Canonical Allele Identifier: CA2493476253
Gene: APOB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21009480_21009482delinsGCT , CM000664.2:g.21009480_21009482delinsGCT GRCh38
NC_000002.11:g.21232352_21232354delinsGCT , CM000664.1:g.21232352_21232354delinsGCT GRCh37
NC_000002.10:g.21085857_21085859delinsGCT NCBI36
NG_011793.1:g.39592_39594delinsAGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.7386_7388delinsAGC MANE Select ENSP00000233242.1:p.Lys2462=
ENST00000616098.4:c.7386_7388delinsAGC ENSP00000477990.1:p.Lys2462=
NM_000384.2:c.7386_7388delinsAGC NP_000375.2:p.Lys2462=
XM_011532809.1:c.5869+1251_5869+1253delinsAGC XP_011531111.1:n.5869+1251_5869+1253delinsAGC
NM_000384.3:c.7386_7388delinsAGC MANE Select NP_000375.3:p.Lys2462=