Canonical Allele Identifier: CA2564215084
Gene: APOB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21023543_21023544insCTTGTTAAA , CM000664.2:g.21023543_21023544insCTTGTTAAA GRCh38
NC_000002.11:g.21246415_21246416insCTTGTTAAA , CM000664.1:g.21246415_21246416insCTTGTTAAA GRCh37
NC_000002.10:g.21099920_21099921insCTTGTTAAA NCBI36
NG_011793.1:g.25530_25531insTTTAACAAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000673739.2:c.*1891_*1892insTTTAACAAG ENSP00000501110.2:n.*1891_*1892insTTTAACAAG
ENST00000673882.2:c.*1891_*1892insTTTAACAAG ENSP00000501253.2:n.*1891_*1892insTTTAACAAG
ENST00000673739.1:c.2299_2300insTTTAACAAG ENSP00000501110.1:n.2299_2300insTTTAACAAG
ENST00000673882.1:c.2299_2300insTTTAACAAG ENSP00000501253.1:n.2299_2300insTTTAACAAG
ENST00000233242.5:c.2585_2586insTTTAACAAG MANE Select ENSP00000233242.1:p.Val862_Lys863insLeuThrArg
ENST00000616098.4:c.2585_2586insTTTAACAAG ENSP00000477990.1:p.Val862_Lys863insLeuThrArg
NM_000384.2:c.2585_2586insTTTAACAAG NP_000375.2:p.Val862_Lys863insLeuThrArg
XM_011532809.1:c.2585_2586insTTTAACAAG XP_011531111.1:p.Val862_Lys863insLeuThrArg
NM_000384.3:c.2585_2586insTTTAACAAG MANE Select NP_000375.3:p.Val862_Lys863insLeuThrArg