Canonical Allele Identifier: CA2533242261

Gene: APOB

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21023545_21023546insATATTTAAAAATGTGTT , CM000664.2:g.21023545_21023546insATATTTAAAAATGTGTT	GRCh38
NC_000002.11:g.21246417_21246418insATATTTAAAAATGTGTT , CM000664.1:g.21246417_21246418insATATTTAAAAATGTGTT	GRCh37
NC_000002.10:g.21099922_21099923insATATTTAAAAATGTGTT	NCBI36
NG_011793.1:g.25528_25529insAACACATTTTTAAATAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673739.2:c.*1889_*1890insAACACATTTTTAAATAT	ENSP00000501110.2:n.*1889_*1890insAACACATTTTTAAATAT
ENST00000673882.2:c.*1889_*1890insAACACATTTTTAAATAT	ENSP00000501253.2:n.*1889_*1890insAACACATTTTTAAATAT
ENST00000673739.1:c.2297_2298insAACACATTTTTAAATAT	ENSP00000501110.1:n.2297_2298insAACACATTTTTAAATAT
ENST00000673882.1:c.2297_2298insAACACATTTTTAAATAT	ENSP00000501253.1:n.2297_2298insAACACATTTTTAAATAT
ENST00000233242.5:c.2583_2584insAACACATTTTTAAATAT MANE Select	ENSP00000233242.1:p.Val862AsnfsTer7
ENST00000616098.4:c.2583_2584insAACACATTTTTAAATAT	ENSP00000477990.1:p.Val862AsnfsTer7
NM_000384.2:c.2583_2584insAACACATTTTTAAATAT	NP_000375.2:p.Val862AsnfsTer7
XM_011532809.1:c.2583_2584insAACACATTTTTAAATAT	XP_011531111.1:p.Val862AsnfsTer7
NM_000384.3:c.2583_2584insAACACATTTTTAAATAT MANE Select	NP_000375.3:p.Val862AsnfsTer7