Canonical Allele Identifier: CA2749093804
Gene: APOB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21007007_21007008insGCTGCAGGGCACTT , CM000664.2:g.21007007_21007008insGCTGCAGGGCACTT GRCh38
NC_000002.11:g.21229879_21229880insGCTGCAGGGCACTT , CM000664.1:g.21229879_21229880insGCTGCAGGGCACTT GRCh37
NC_000002.10:g.21083384_21083385insGCTGCAGGGCACTT NCBI36
NG_011793.1:g.42066_42067insAAGTGCCCTGCAGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.9860_9861insAAGTGCCCTGCAGC MANE Select ENSP00000233242.1:p.Asp3289AlafsTer14
ENST00000616098.4:c.9860_9861insAAGTGCCCTGCAGC ENSP00000477990.1:p.Asp3289AlafsTer14
NM_000384.2:c.9860_9861insAAGTGCCCTGCAGC NP_000375.2:p.Asp3289AlafsTer14
XM_011532809.1:c.5869+3725_5869+3726insAAGTGCCCTGCAGC XP_011531111.1:n.5869+3725_5869+3726insAAGTGCCCTGCAGC
NM_000384.3:c.9860_9861insAAGTGCCCTGCAGC MANE Select NP_000375.3:p.Asp3289AlafsTer14