Canonical Allele Identifier: CA1546559

Gene: APOB

Linked Data

• dbSNP Id: rs780123326
• ExAC: 2:21260839 C / CA
• gnomAD v2: 2-21260839-C-CA
• MyVariant Identifiers: chr2:g.21260839_21260840insA (hg19) ; chr2:g.21037967_21037968insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21037968dup , CM000664.2:g.21037968dup	GRCh38
NC_000002.11:g.21260840dup , CM000664.1:g.21260840dup	GRCh37
NC_000002.10:g.21114345dup	NCBI36
NG_011793.1:g.11106dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673739.2:c.384-713dup	ENSP00000501110.2:n.384-713dup
ENST00000673882.2:c.384-713dup	ENSP00000501253.2:n.384-713dup
ENST00000673739.1:c.252-713dup	ENSP00000501110.1:n.252-713dup
ENST00000673882.1:c.252-713dup	ENSP00000501253.1:n.252-713dup
ENST00000233242.5:c.527dup MANE Select	ENSP00000233242.1:p.Leu177ValfsTer30
ENST00000399256.4:c.527dup	ENSP00000382200.4:p.Leu177ValfsTer30
ENST00000616098.4:c.527dup	ENSP00000477990.1:p.Leu177ValfsTer30
NM_000384.2:c.527dup	NP_000375.2:p.Leu177ValfsTer30
XM_011532809.1:c.527dup	XP_011531111.1:p.Leu177ValfsTer30
NM_000384.3:c.527dup MANE Select	NP_000375.3:p.Leu177ValfsTer30