Canonical Allele Identifier: CA2749099706
Gene: APOB HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21010177_21010178insCACCAAACACACCCAACAC , CM000664.2:g.21010177_21010178insCACCAAACACACCCAACAC GRCh38
NC_000002.11:g.21233049_21233050insCACCAAACACACCCAACAC , CM000664.1:g.21233049_21233050insCACCAAACACACCCAACAC GRCh37
NC_000002.10:g.21086554_21086555insCACCAAACACACCCAACAC NCBI36
NG_011793.1:g.38896_38897insGTGTTGGGTGTGTTTGGTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.6690_6691insGTGTTGGGTGTGTTTGGTG MANE Select ENSP00000233242.1:p.Leu2231ValfsTer10
ENST00000616098.4:c.6690_6691insGTGTTGGGTGTGTTTGGTG ENSP00000477990.1:p.Leu2231ValfsTer10
NM_000384.2:c.6690_6691insGTGTTGGGTGTGTTTGGTG NP_000375.2:p.Leu2231ValfsTer10
XM_011532809.1:c.5869+555_5869+556insGTGTTGGGTGTGTTTGGTG XP_011531111.1:n.5869+555_5869+556insGTGTTGGGTGTGTTTGGTG
NM_000384.3:c.6690_6691insGTGTTGGGTGTGTTTGGTG MANE Select NP_000375.3:p.Leu2231ValfsTer10
Search 100 bp 5'
Search 100 bp 3'