Canonical Allele Identifier: CA531312717
Gene: APOB HGNC NCBI

Linked Data

dbSNP Id: rs1471496781
gnomAD v2: 2-21225220-CT-C
gnomAD v3: 2-21002348-CT-C
gnomAD v4: 2-21002348-CT-C
MyVariant Identifiers: chr2:g.21225221del (hg19) chr2:g.21002349del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21002350del , CM000664.2:g.21002350del GRCh38
NC_000002.11:g.21225222del , CM000664.1:g.21225222del GRCh37
NC_000002.10:g.21078727del NCBI36
NG_011793.1:g.46725del

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.13073del MANE Select ENSP00000233242.1:p.Lys4358SerfsTer?
ENST00000616098.4:c.13071del ENSP00000477990.1:n.13071del
NM_000384.2:c.13073del NP_000375.2:p.Lys4358SerfsTer?
XM_011532809.1:c.5870-3076del XP_011531111.1:n.5870-3076del
NM_000384.3:c.13073del MANE Select NP_000375.3:p.Lys4358SerfsTer?
Search 100 bp 5'
Search 100 bp 3'