Canonical Allele Identifier: CA346003819
Gene: APOB HGNC NCBI

Linked Data

dbSNP Id: rs1553383804
gnomAD v4: 2-21011007-AGAT-A
MyVariant Identifiers: chr2:g.21233880_21233882del (hg19) chr2:g.21011009_21011011del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21011013_21011015del , CM000664.2:g.21011013_21011015del GRCh38
NC_000002.11:g.21233885_21233887del , CM000664.1:g.21233885_21233887del GRCh37
NC_000002.10:g.21087390_21087392del NCBI36
NG_011793.1:g.38064_38066del

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.5858_5860del MANE Select ENSP00000233242.1:p.His1953del
ENST00000616098.4:c.5858_5860del ENSP00000477990.1:p.His1953del
NM_000384.2:c.5858_5860del NP_000375.2:p.His1953del
XM_011532809.1:c.5858_5860del XP_011531111.1:p.His1953del
NM_000384.3:c.5858_5860del MANE Select NP_000375.3:p.His1953del
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