Canonical Allele Identifier: CA764122439

Gene: APOB

Linked Data

• dbSNP Id: rs1222086588
• gnomAD v3: 2-21023254-AC-A
• gnomAD v4: 2-21023254-AC-A
• MyVariant Identifiers: chr2:g.21246127del (hg19) ; chr2:g.21023255del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21023255del , CM000664.2:g.21023255del	GRCh38
NC_000002.11:g.21246127del , CM000664.1:g.21246127del	GRCh37
NC_000002.10:g.21099632del	NCBI36
NG_011793.1:g.25819del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673739.2:c.*1911-213del	ENSP00000501110.2:n.*1911-213del
ENST00000673882.2:c.*1911-213del	ENSP00000501253.2:n.*1911-213del
ENST00000673739.1:c.2319-213del	ENSP00000501110.1:n.2319-213del
ENST00000673882.1:c.2319-213del	ENSP00000501253.1:n.2319-213del
ENST00000233242.5:c.2605-213del MANE Select	ENSP00000233242.1:n.2605-213del
ENST00000616098.4:c.2605-213del	ENSP00000477990.1:n.2605-213del
NM_000384.2:c.2605-213del	NP_000375.2:n.2605-213del
XM_011532809.1:c.2605-213del	XP_011531111.1:n.2605-213del
NM_000384.3:c.2605-213del MANE Select	NP_000375.3:n.2605-213del