Canonical Allele Identifier: CA531313098

Gene: APOB

Linked Data

• dbSNP Id: rs1281416336
• gnomAD v2: 2-21261288-AACCTCC-A
• gnomAD v3: 2-21038416-AACCTCC-A
• gnomAD v4: 2-21038416-AACCTCC-A
• MyVariant Identifiers: chr2:g.21261289_21261294del (hg19) ; chr2:g.21038417_21038422del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21038423_21038428del , CM000664.2:g.21038423_21038428del	GRCh38
NC_000002.11:g.21261295_21261300del , CM000664.1:g.21261295_21261300del	GRCh37
NC_000002.10:g.21114800_21114805del	NCBI36
NG_011793.1:g.10652_10657del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673739.2:c.384-1167_384-1162del	ENSP00000501110.2:n.384-1167_384-1162del
ENST00000673882.2:c.384-1167_384-1162del	ENSP00000501253.2:n.384-1167_384-1162del
ENST00000673739.1:c.252-1167_252-1162del	ENSP00000501110.1:n.252-1167_252-1162del
ENST00000673882.1:c.252-1167_252-1162del	ENSP00000501253.1:n.252-1167_252-1162del
ENST00000233242.5:c.384-311_384-306del MANE Select	ENSP00000233242.1:n.384-311_384-306del
ENST00000399256.4:c.384-311_384-306del	ENSP00000382200.4:n.384-311_384-306del
ENST00000616098.4:c.384-311_384-306del	ENSP00000477990.1:n.384-311_384-306del
NM_000384.2:c.384-311_384-306del	NP_000375.2:n.384-311_384-306del
XM_011532809.1:c.384-311_384-306del	XP_011531111.1:n.384-311_384-306del
NM_000384.3:c.384-311_384-306del MANE Select	NP_000375.3:n.384-311_384-306del