Canonical Allele Identifier: CA2749099708
Gene: APOB HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21011040_21011042del , CM000664.2:g.21011040_21011042del GRCh38
NC_000002.11:g.21233912_21233914del , CM000664.1:g.21233912_21233914del GRCh37
NC_000002.10:g.21087417_21087419del NCBI36
NG_011793.1:g.38032_38034del

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.5826_5828del MANE Select ENSP00000233242.1:p.Ser1943del
ENST00000616098.4:c.5826_5828del ENSP00000477990.1:p.Ser1943del
NM_000384.2:c.5826_5828del NP_000375.2:p.Ser1943del
XM_011532809.1:c.5826_5828del XP_011531111.1:p.Ser1943del
NM_000384.3:c.5826_5828del MANE Select NP_000375.3:p.Ser1943del
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