Canonical Allele Identifier: CA530861077

Gene: APOB

Linked Data

• ClinVar Variation Id: 847160
• ClinVar RCV Id: RCV001838352 ; RCV002451207
• dbSNP Id: rs17240441
• gnomAD v2: 2-21266774-G-GGCAGCGCCA
• gnomAD v3: 2-21043902-G-GGCAGCGCCA
• gnomAD v4: 2-21043902-G-GGCAGCGCCA
• MyVariant Identifiers: chr2:g.21266783_21266784insGCAGCGCCA (hg19) ; chr2:g.21266774_21266775insGCAGCGCCA (hg19) ; chr2:g.21043911_21043912insGCAGCGCCA (hg38) ; chr2:g.21043902_21043903insGCAGCGCCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21043919_21043927dup , CM000664.2:g.21043919_21043927dup	GRCh38
NC_000002.11:g.21266791_21266799dup , CM000664.1:g.21266791_21266799dup	GRCh37
NC_000002.10:g.21120296_21120304dup	NCBI36
NG_011793.1:g.5163_5171dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000673739.2:c.35_43dup	ENSP00000501110.2:p.Leu14_Pro15insLeuAlaL...
ENST00000673882.2:c.35_43dup	ENSP00000501253.2:p.Leu14_Pro15insLeuAlaL...
ENST00000233242.5:c.35_43dup MANE Select	ENSP00000233242.1:p.Leu14_Pro15insLeuAlaL...
ENST00000399256.4:c.35_43dup	ENSP00000382200.4:p.Leu14_Pro15insLeuAlaL...
ENST00000616098.4:c.35_43dup	ENSP00000477990.1:p.Leu14_Pro15insLeuAlaL...
NM_000384.2:c.35_43dup	NP_000375.2:p.Leu14_Pro15insLeuAlaLeu
XM_011532809.1:c.35_43dup	XP_011531111.1:p.Leu14_Pro15insLeuAlaLeu
NM_000384.3:c.35_43dup MANE Select	NP_000375.3:p.Leu14_Pro15insLeuAlaLeu