Canonical Allele Identifier: CA2749093920
Gene: APOB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21002138_21002139insATTT , CM000664.2:g.21002138_21002139insATTT GRCh38
NC_000002.11:g.21225010_21225011insATTT , CM000664.1:g.21225010_21225011insATTT GRCh37
NC_000002.10:g.21078515_21078516insATTT NCBI36
NG_011793.1:g.46935_46936insAAAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.13283_13284insAAAT MANE Select ENSP00000233242.1:p.Ser4428ArgfsTer5
ENST00000616098.4:c.13281_13282insAAAT ENSP00000477990.1:n.13281_13282insAAAT
NM_000384.2:c.13283_13284insAAAT NP_000375.2:p.Ser4428ArgfsTer5
XM_011532809.1:c.5870-2866_5870-2865insAAAT XP_011531111.1:n.5870-2866_5870-2865insAAAT
NM_000384.3:c.13283_13284insAAAT MANE Select NP_000375.3:p.Ser4428ArgfsTer5