Canonical Allele Identifier: CA2658076732
Gene: APOB HGNC NCBI

Linked Data

gnomAD v4: 2-21007051-CAT-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21007053_21007054del , CM000664.2:g.21007053_21007054del GRCh38
NC_000002.11:g.21229925_21229926del , CM000664.1:g.21229925_21229926del GRCh37
NC_000002.10:g.21083430_21083431del NCBI36
NG_011793.1:g.42021_42022del

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.9815_9816del MANE Select ENSP00000233242.1:p.Tyr3272CysfsTer10
ENST00000616098.4:c.9815_9816del ENSP00000477990.1:p.Tyr3272CysfsTer10
NM_000384.2:c.9815_9816del NP_000375.2:p.Tyr3272CysfsTer10
XM_011532809.1:c.5869+3680_5869+3681del XP_011531111.1:n.5869+3680_5869+3681del
NM_000384.3:c.9815_9816del MANE Select NP_000375.3:p.Tyr3272CysfsTer10
Search 100 bp 5'
Search 100 bp 3'