Canonical Allele Identifier: CA531312689
Gene: APOB HGNC NCBI

Linked Data

dbSNP Id: rs1256414520
gnomAD v2: 2-21225262-A-AACATATGG
gnomAD v4: 2-21002390-A-AACATATGG
MyVariant Identifiers: chr2:g.21225262_21225263insACATATGG (hg19) chr2:g.21002390_21002391insACATATGG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21002391_21002398dup , CM000664.2:g.21002391_21002398dup GRCh38
NC_000002.11:g.21225263_21225270dup , CM000664.1:g.21225263_21225270dup GRCh37
NC_000002.10:g.21078768_21078775dup NCBI36
NG_011793.1:g.46676_46683dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.13024_13031dup MANE Select ENSP00000233242.1:p.Phe4345HisfsTer7
ENST00000616098.4:c.13024_13029dup
NM_000384.2:c.13024_13031dup NP_000375.2:p.Phe4345HisfsTer7
XM_011532809.1:c.5870-3125_5870-3118dup XP_011531111.1:n.5870-3125_5870-3118dup
NM_000384.3:c.13024_13031dup MANE Select NP_000375.3:p.Phe4345HisfsTer7
Search 100 bp 5'
Search 100 bp 3'