Canonical Allele Identifier: CA1546545

Gene: APOB

Linked Data

• dbSNP Id: rs748105956
• ExAC: 2:21238191 T / TCAA
• gnomAD v2: 2-21238191-T-TCAA
• gnomAD v3: 2-21015319-T-TCAA
• gnomAD v4: 2-21015319-T-TCAA
• MyVariant Identifiers: chr2:g.21238191_21238192insCAA (hg19) ; chr2:g.21015319_21015320insCAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21015322_21015324dup , CM000664.2:g.21015322_21015324dup	GRCh38
NC_000002.11:g.21238194_21238196dup , CM000664.1:g.21238194_21238196dup	GRCh37
NC_000002.10:g.21091699_21091701dup	NCBI36
NG_011793.1:g.33752_33754dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673739.2:c.*2814+48_*2814+50dup	ENSP00000501110.2:n.*2814+48_*2814+50dup
ENST00000673882.2:c.*2603+48_*2603+50dup	ENSP00000501253.2:n.*2603+48_*2603+50dup
ENST00000673739.1:c.3222+48_3222+50dup	ENSP00000501110.1:n.3222+48_3222+50dup
ENST00000673882.1:c.3011+48_3011+50dup	ENSP00000501253.1:n.3011+48_3011+50dup
ENST00000233242.5:c.3508+48_3508+50dup MANE Select	ENSP00000233242.1:n.3508+48_3508+50dup
ENST00000616098.4:c.3508+48_3508+50dup	ENSP00000477990.1:n.3508+48_3508+50dup
NM_000384.2:c.3508+48_3508+50dup	NP_000375.2:n.3508+48_3508+50dup
XM_011532809.1:c.3508+48_3508+50dup	XP_011531111.1:n.3508+48_3508+50dup
NM_000384.3:c.3508+48_3508+50dup MANE Select	NP_000375.3:n.3508+48_3508+50dup