Canonical Allele Identifier: CA2658076729
Gene: APOB HGNC NCBI

Linked Data

gnomAD v4: 2-21006947-A-AAGGACTG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21006948_21006954dup , CM000664.2:g.21006948_21006954dup GRCh38
NC_000002.11:g.21229820_21229826dup , CM000664.1:g.21229820_21229826dup GRCh37
NC_000002.10:g.21083325_21083331dup NCBI36
NG_011793.1:g.42120_42126dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.9914_9920dup MANE Select ENSP00000233242.1:p.His3308SerfsTer6
ENST00000616098.4:c.9914_9920dup ENSP00000477990.1:p.His3308SerfsTer6
NM_000384.2:c.9914_9920dup NP_000375.2:p.His3308SerfsTer6
XM_011532809.1:c.5869+3779_5869+3785dup XP_011531111.1:n.5869+3779_5869+3785dup
NM_000384.3:c.9914_9920dup MANE Select NP_000375.3:p.His3308SerfsTer6
Search 100 bp 5'
Search 100 bp 3'