Canonical Allele Identifier: CA16610703
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 404409
ClinVar RCV Id: RCV001837914
dbSNP Id: rs1553383931
MyVariant Identifiers: chr2:g.21234624dupT (hg19) chr2:g.21234623_21234624insT (hg19) chr2:g.21011752dupT (hg38) chr2:g.21011751_21011752insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21011752dup , CM000664.2:g.21011752dup GRCh38
NC_000002.11:g.21234624dup , CM000664.1:g.21234624dup GRCh37
NC_000002.10:g.21088129dup NCBI36
NG_011793.1:g.37322dup

Transcript Alleles

HGVS Amino-acid change
ENST00000673739.2:c.*4422dup ENSP00000501110.2:n.*4422dup
ENST00000673739.1:c.4830dup ENSP00000501110.1:n.4830dup
ENST00000233242.5:c.5116dup MANE Select ENSP00000233242.1:p.Thr1706AsnfsTer?
ENST00000616098.4:c.5116dup ENSP00000477990.1:p.Thr1706AsnfsTer?
NM_000384.2:c.5116dup NP_000375.2:p.Thr1706AsnfsTer?
XM_011532809.1:c.5116dup XP_011531111.1:p.Thr1706AsnfsTer?
NM_000384.3:c.5116dup MANE Select NP_000375.3:p.Thr1706AsnfsTer?
Search 100 bp 5'
Search 100 bp 3'