Canonical Allele Identifier: CA2493489278

Gene: APOB

Linked Data

• dbSNP Id: rs1664046059

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21037974_21037976dup , CM000664.2:g.21037974_21037976dup	GRCh38
NC_000002.11:g.21260846_21260848dup , CM000664.1:g.21260846_21260848dup	GRCh37
NC_000002.10:g.21114351_21114353dup	NCBI36
NG_011793.1:g.11098_11100dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673739.2:c.384-721_384-719dup	ENSP00000501110.2:n.384-721_384-719dup
ENST00000673882.2:c.384-721_384-719dup	ENSP00000501253.2:n.384-721_384-719dup
ENST00000673739.1:c.252-721_252-719dup	ENSP00000501110.1:n.252-721_252-719dup
ENST00000673882.1:c.252-721_252-719dup	ENSP00000501253.1:n.252-721_252-719dup
ENST00000233242.5:c.519_521dup MANE Select	ENSP00000233242.1:p.Ala173_Lys174insAsn
ENST00000399256.4:c.519_521dup	ENSP00000382200.4:p.Ala173_Lys174insAsn
ENST00000616098.4:c.519_521dup	ENSP00000477990.1:p.Ala173_Lys174insAsn
NM_000384.2:c.519_521dup	NP_000375.2:p.Ala173_Lys174insAsn
XM_011532809.1:c.519_521dup	XP_011531111.1:p.Ala173_Lys174insAsn
NM_000384.3:c.519_521dup MANE Select	NP_000375.3:p.Ala173_Lys174insAsn