Canonical Allele Identifier: CA43465921

Gene: APOB

Linked Data

• dbSNP Id: rs1012788110
• gnomAD v3: 2-21038318-TTTTTTTTC-T
• gnomAD v4: 2-21038318-TTTTTTTTC-T
• MyVariant Identifiers: chr2:g.21261191_21261198del (hg19) ; chr2:g.21038319_21038326del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21038333_21038340del , CM000664.2:g.21038333_21038340del	GRCh38
NC_000002.11:g.21261205_21261212del , CM000664.1:g.21261205_21261212del	GRCh37
NC_000002.10:g.21114710_21114717del	NCBI36
NG_011793.1:g.10748_10755del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673739.2:c.384-1071_384-1064del	ENSP00000501110.2:n.384-1071_384-1064del
ENST00000673882.2:c.384-1071_384-1064del	ENSP00000501253.2:n.384-1071_384-1064del
ENST00000673739.1:c.252-1071_252-1064del	ENSP00000501110.1:n.252-1071_252-1064del
ENST00000673882.1:c.252-1071_252-1064del	ENSP00000501253.1:n.252-1071_252-1064del
ENST00000233242.5:c.384-215_384-208del MANE Select	ENSP00000233242.1:n.384-215_384-208del
ENST00000399256.4:c.384-215_384-208del	ENSP00000382200.4:n.384-215_384-208del
ENST00000616098.4:c.384-215_384-208del	ENSP00000477990.1:n.384-215_384-208del
NM_000384.2:c.384-215_384-208del	NP_000375.2:n.384-215_384-208del
XM_011532809.1:c.384-215_384-208del	XP_011531111.1:n.384-215_384-208del
NM_000384.3:c.384-215_384-208del MANE Select	NP_000375.3:n.384-215_384-208del