Canonical Allele Identifier: CA2658054430
Gene: APOB HGNC NCBI

Linked Data

gnomAD v4: 2-21002594-T-TA
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21002597dup , CM000664.2:g.21002597dup GRCh38
NC_000002.11:g.21225469dup , CM000664.1:g.21225469dup GRCh37
NC_000002.10:g.21078974dup NCBI36
NG_011793.1:g.46479dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.12827dup MANE Select ENSP00000233242.1:p.Leu4276PhefsTer10
ENST00000616098.4:c.12827dup ENSP00000477990.1:p.Leu4276PhefsTer10
NM_000384.2:c.12827dup NP_000375.2:p.Leu4276PhefsTer10
XM_011532809.1:c.5870-3322dup XP_011531111.1:n.5870-3322dup
NM_000384.3:c.12827dup MANE Select NP_000375.3:p.Leu4276PhefsTer10
Search 100 bp 5'
Search 100 bp 3'