Canonical Allele Identifier: CA2658057243

Gene: APOB

Linked Data

• gnomAD v4: 2-21015495-C-CG

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21015499dup , CM000664.2:g.21015499dup	GRCh38
NC_000002.11:g.21238371dup , CM000664.1:g.21238371dup	GRCh37
NC_000002.10:g.21091876dup	NCBI36
NG_011793.1:g.33578dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673739.2:c.*2688dup	ENSP00000501110.2:n.*2688dup
ENST00000673882.2:c.*2477dup	ENSP00000501253.2:n.*2477dup
ENST00000673739.1:c.3096dup	ENSP00000501110.1:n.3096dup
ENST00000673882.1:c.2885dup	ENSP00000501253.1:n.2885dup
ENST00000233242.5:c.3382dup MANE Select	ENSP00000233242.1:p.Arg1128ProfsTer9
ENST00000616098.4:c.3382dup	ENSP00000477990.1:p.Arg1128ProfsTer9
NM_000384.2:c.3382dup	NP_000375.2:p.Arg1128ProfsTer9
XM_011532809.1:c.3382dup	XP_011531111.1:p.Arg1128ProfsTer9
NM_000384.3:c.3382dup MANE Select	NP_000375.3:p.Arg1128ProfsTer9