Canonical Allele Identifier: CA1546544

Gene: APOB

Linked Data

• dbSNP Id: rs780971049
• ExAC: 2:21238140 T / TA
• gnomAD v2: 2-21238140-T-TA
• gnomAD v4: 2-21015268-T-TA
• MyVariant Identifiers: chr2:g.21238140_21238141insA (hg19) ; chr2:g.21015268_21015269insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21015269dup , CM000664.2:g.21015269dup	GRCh38
NC_000002.11:g.21238141dup , CM000664.1:g.21238141dup	GRCh37
NC_000002.10:g.21091646dup	NCBI36
NG_011793.1:g.33805dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673739.2:c.*2815-9dup	ENSP00000501110.2:n.*2815-9dup
ENST00000673882.2:c.*2604-9dup	ENSP00000501253.2:n.*2604-9dup
ENST00000673739.1:c.3223-9dup	ENSP00000501110.1:n.3223-9dup
ENST00000673882.1:c.3012-9dup	ENSP00000501253.1:n.3012-9dup
ENST00000233242.5:c.3509-9dup MANE Select	ENSP00000233242.1:n.3509-9dup
ENST00000616098.4:c.3509-9dup	ENSP00000477990.1:n.3509-9dup
NM_000384.2:c.3509-9dup	NP_000375.2:n.3509-9dup
XM_011532809.1:c.3509-9dup	XP_011531111.1:n.3509-9dup
NM_000384.3:c.3509-9dup MANE Select	NP_000375.3:n.3509-9dup