Canonical Allele Identifier: CA2658076731
Gene: APOB HGNC NCBI

Linked Data

gnomAD v4: 2-21007039-C-CT
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21007043dup , CM000664.2:g.21007043dup GRCh38
NC_000002.11:g.21229915dup , CM000664.1:g.21229915dup GRCh37
NC_000002.10:g.21083420dup NCBI36
NG_011793.1:g.42034dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.9828dup MANE Select ENSP00000233242.1:p.Ala3277SerfsTer6
ENST00000616098.4:c.9828dup ENSP00000477990.1:p.Ala3277SerfsTer6
NM_000384.2:c.9828dup NP_000375.2:p.Ala3277SerfsTer6
XM_011532809.1:c.5869+3693dup XP_011531111.1:n.5869+3693dup
NM_000384.3:c.9828dup MANE Select NP_000375.3:p.Ala3277SerfsTer6
Search 100 bp 5'
Search 100 bp 3'