Canonical Allele Identifier: CA2493481600

Gene: APOB

Linked Data

• dbSNP Id: rs1663593466
• gnomAD v3: 2-21021024-CTAA-C
• gnomAD v4: 2-21021024-CTAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21021026_21021028del , CM000664.2:g.21021026_21021028del	GRCh38
NC_000002.11:g.21243898_21243900del , CM000664.1:g.21243898_21243900del	GRCh37
NC_000002.10:g.21097403_21097405del	NCBI36
NG_011793.1:g.28047_28049del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673739.2:c.*2123-1122_*2123-1120del	ENSP00000501110.2:n.*2123-1122_*2123-1120del
ENST00000673882.2:c.*2123-1122_*2123-1120del	ENSP00000501253.2:n.*2123-1122_*2123-1120del
ENST00000673739.1:c.2531-1122_2531-1120del	ENSP00000501110.1:n.2531-1122_2531-1120del
ENST00000673882.1:c.2531-1122_2531-1120del	ENSP00000501253.1:n.2531-1122_2531-1120del
ENST00000233242.5:c.2817-1122_2817-1120del MANE Select	ENSP00000233242.1:n.2817-1122_2817-1120del
ENST00000616098.4:c.2817-1122_2817-1120del	ENSP00000477990.1:n.2817-1122_2817-1120del
NM_000384.2:c.2817-1122_2817-1120del	NP_000375.2:n.2817-1122_2817-1120del
XM_011532809.1:c.2817-1122_2817-1120del	XP_011531111.1:n.2817-1122_2817-1120del
NM_000384.3:c.2817-1122_2817-1120del MANE Select	NP_000375.3:n.2817-1122_2817-1120del