Canonical Allele Identifier: CA2493476678
Gene: APOB HGNC NCBI

Linked Data

dbSNP Id: rs1663274469
gnomAD v4: 2-21010374-AT-A
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21010378del , CM000664.2:g.21010378del GRCh38
NC_000002.11:g.21233250del , CM000664.1:g.21233250del GRCh37
NC_000002.10:g.21086755del NCBI36
NG_011793.1:g.38699del

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.6493del MANE Select ENSP00000233242.1:p.Ile2165SerfsTer14
ENST00000616098.4:c.6493del ENSP00000477990.1:p.Ile2165SerfsTer14
NM_000384.2:c.6493del NP_000375.2:p.Ile2165SerfsTer14
XM_011532809.1:c.5869+358del XP_011531111.1:n.5869+358del
NM_000384.3:c.6493del MANE Select NP_000375.3:p.Ile2165SerfsTer14
Search 100 bp 5'
Search 100 bp 3'