Canonical Allele Identifier: CA1028210236

Gene: APOB

Linked Data

• dbSNP Id: rs1664045672
• gnomAD v3: 2-21037961-AAAC-A
• gnomAD v4: 2-21037961-AAAC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21037966_21037968del , CM000664.2:g.21037966_21037968del	GRCh38
NC_000002.11:g.21260838_21260840del , CM000664.1:g.21260838_21260840del	GRCh37
NC_000002.10:g.21114343_21114345del	NCBI36
NG_011793.1:g.11110_11112del

Transcript Alleles

HGVS	Amino-acid change
ENST00000673739.2:c.384-709_384-707del	ENSP00000501110.2:n.384-709_384-707del
ENST00000673882.2:c.384-709_384-707del	ENSP00000501253.2:n.384-709_384-707del
ENST00000673739.1:c.252-709_252-707del	ENSP00000501110.1:n.252-709_252-707del
ENST00000673882.1:c.252-709_252-707del	ENSP00000501253.1:n.252-709_252-707del
ENST00000233242.5:c.531_533del MANE Select	ENSP00000233242.1:p.Leu177del
ENST00000399256.4:c.531_533del	ENSP00000382200.4:p.Leu177del
ENST00000616098.4:c.531_533del	ENSP00000477990.1:p.Leu177del
NM_000384.2:c.531_533del	NP_000375.2:p.Leu177del
XM_011532809.1:c.531_533del	XP_011531111.1:p.Leu177del
NM_000384.3:c.531_533del MANE Select	NP_000375.3:p.Leu177del