Canonical Allele Identifier: CA2658046660
Gene: APOB HGNC NCBI

Linked Data

gnomAD v4: 2-21023469-ATGCACCC-A
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21023472_21023478del , CM000664.2:g.21023472_21023478del GRCh38
NC_000002.11:g.21246344_21246350del , CM000664.1:g.21246344_21246350del GRCh37
NC_000002.10:g.21099849_21099855del NCBI36
NG_011793.1:g.25598_25604del

Transcript Alleles

HGVS Amino-acid change
ENST00000673739.2:c.*1910+49_*1910+55del ENSP00000501110.2:n.*1910+49_*1910+55del
ENST00000673882.2:c.*1910+49_*1910+55del ENSP00000501253.2:n.*1910+49_*1910+55del
ENST00000673739.1:c.2318+49_2318+55del ENSP00000501110.1:n.2318+49_2318+55del
ENST00000673882.1:c.2318+49_2318+55del ENSP00000501253.1:n.2318+49_2318+55del
ENST00000233242.5:c.2604+49_2604+55del MANE Select ENSP00000233242.1:n.2604+49_2604+55del
ENST00000616098.4:c.2604+49_2604+55del ENSP00000477990.1:n.2604+49_2604+55del
NM_000384.2:c.2604+49_2604+55del NP_000375.2:n.2604+49_2604+55del
XM_011532809.1:c.2604+49_2604+55del XP_011531111.1:n.2604+49_2604+55del
NM_000384.3:c.2604+49_2604+55del MANE Select NP_000375.3:n.2604+49_2604+55del
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