Canonical Allele Identifier: CA2749100240

Gene: APOB

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21037996dup , CM000664.2:g.21037996dup	GRCh38
NC_000002.11:g.21260868dup , CM000664.1:g.21260868dup	GRCh37
NC_000002.10:g.21114373dup	NCBI36
NG_011793.1:g.11082dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673739.2:c.384-737dup	ENSP00000501110.2:n.384-737dup
ENST00000673882.2:c.384-737dup	ENSP00000501253.2:n.384-737dup
ENST00000673739.1:c.252-737dup	ENSP00000501110.1:n.252-737dup
ENST00000673882.1:c.252-737dup	ENSP00000501253.1:n.252-737dup
ENST00000233242.5:c.503dup MANE Select	ENSP00000233242.1:p.Glu169ArgfsTer?
ENST00000399256.4:c.503dup	ENSP00000382200.4:p.Glu169ArgfsTer?
ENST00000616098.4:c.503dup	ENSP00000477990.1:p.Glu169ArgfsTer?
NM_000384.2:c.503dup	NP_000375.2:p.Glu169ArgfsTer?
XM_011532809.1:c.503dup	XP_011531111.1:p.Glu169ArgfsTer?
NM_000384.3:c.503dup MANE Select	NP_000375.3:p.Glu169ArgfsTer?