Canonical Allele Identifier: CA2493472912
Gene: APOB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21002301_21002303delinsAAC , CM000664.2:g.21002301_21002303delinsAAC GRCh38
NC_000002.11:g.21225173_21225175delinsAAC , CM000664.1:g.21225173_21225175delinsAAC GRCh37
NC_000002.10:g.21078678_21078680delinsAAC NCBI36
NG_011793.1:g.46771_46773delinsGTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.13119_13121delinsGTT MANE Select ENSP00000233242.1:p.Glu4373=
ENST00000616098.4:c.13117_13119delinsGTT ENSP00000477990.1:n.13117_13119delinsGTT
NM_000384.2:c.13119_13121delinsGTT NP_000375.2:p.Glu4373=
XM_011532809.1:c.5870-3030_5870-3028delinsGTT XP_011531111.1:n.5870-3030_5870-3028delinsGTT
NM_000384.3:c.13119_13121delinsGTT MANE Select NP_000375.3:p.Glu4373=