Canonical Allele Identifier: CA2556348546
Gene: APOB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21010461_21010462insCTCA , CM000664.2:g.21010461_21010462insCTCA GRCh38
NC_000002.11:g.21233333_21233334insCTCA , CM000664.1:g.21233333_21233334insCTCA GRCh37
NC_000002.10:g.21086838_21086839insCTCA NCBI36
NG_011793.1:g.38612_38613insTGAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.6406_6407insTGAG MANE Select ENSP00000233242.1:p.Ser2136LeufsTer16
ENST00000616098.4:c.6406_6407insTGAG ENSP00000477990.1:p.Ser2136LeufsTer16
NM_000384.2:c.6406_6407insTGAG NP_000375.2:p.Ser2136LeufsTer16
XM_011532809.1:c.5869+271_5869+272insTGAG XP_011531111.1:n.5869+271_5869+272insTGAG
NM_000384.3:c.6406_6407insTGAG MANE Select NP_000375.3:p.Ser2136LeufsTer16