Canonical Allele Identifier: CA764121158

Gene: APOB

Linked Data

• dbSNP Id: rs1367458507
• gnomAD v3: 2-21021193-T-TGTA
• gnomAD v4: 2-21021193-T-TGTA
• MyVariant Identifiers: chr2:g.21244065_21244066insGTA (hg19) ; chr2:g.21021193_21021194insGTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21021196_21021198dup , CM000664.2:g.21021196_21021198dup	GRCh38
NC_000002.11:g.21244068_21244070dup , CM000664.1:g.21244068_21244070dup	GRCh37
NC_000002.10:g.21097573_21097575dup	NCBI36
NG_011793.1:g.27878_27880dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673739.2:c.*2123-1291_*2123-1289dup	ENSP00000501110.2:n.*2123-1291_*2123-1289dup
ENST00000673882.2:c.*2123-1291_*2123-1289dup	ENSP00000501253.2:n.*2123-1291_*2123-1289dup
ENST00000673739.1:c.2531-1291_2531-1289dup	ENSP00000501110.1:n.2531-1291_2531-1289dup
ENST00000673882.1:c.2531-1291_2531-1289dup	ENSP00000501253.1:n.2531-1291_2531-1289dup
ENST00000233242.5:c.2817-1291_2817-1289dup MANE Select	ENSP00000233242.1:n.2817-1291_2817-1289dup
ENST00000616098.4:c.2817-1291_2817-1289dup	ENSP00000477990.1:n.2817-1291_2817-1289dup
NM_000384.2:c.2817-1291_2817-1289dup	NP_000375.2:n.2817-1291_2817-1289dup
XM_011532809.1:c.2817-1291_2817-1289dup	XP_011531111.1:n.2817-1291_2817-1289dup
NM_000384.3:c.2817-1291_2817-1289dup MANE Select	NP_000375.3:n.2817-1291_2817-1289dup