Canonical Allele Identifier: CA43465925

Gene: APOB

Linked Data

• dbSNP Id: rs1021877096
• gnomAD v3: 2-21038326-C-CT
• gnomAD v4: 2-21038326-C-CT
• MyVariant Identifiers: chr2:g.21261198_21261199insT (hg19) ; chr2:g.21038326_21038327insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21038333dup , CM000664.2:g.21038333dup	GRCh38
NC_000002.11:g.21261205dup , CM000664.1:g.21261205dup	GRCh37
NC_000002.10:g.21114710dup	NCBI36
NG_011793.1:g.10747dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673739.2:c.384-1072dup	ENSP00000501110.2:n.384-1072dup
ENST00000673882.2:c.384-1072dup	ENSP00000501253.2:n.384-1072dup
ENST00000673739.1:c.252-1072dup	ENSP00000501110.1:n.252-1072dup
ENST00000673882.1:c.252-1072dup	ENSP00000501253.1:n.252-1072dup
ENST00000233242.5:c.384-216dup MANE Select	ENSP00000233242.1:n.384-216dup
ENST00000399256.4:c.384-216dup	ENSP00000382200.4:n.384-216dup
ENST00000616098.4:c.384-216dup	ENSP00000477990.1:n.384-216dup
NM_000384.2:c.384-216dup	NP_000375.2:n.384-216dup
XM_011532809.1:c.384-216dup	XP_011531111.1:n.384-216dup
NM_000384.3:c.384-216dup MANE Select	NP_000375.3:n.384-216dup