Canonical Allele Identifier: CA051741

Gene: APOB

Linked Data

• ClinVar Variation Id: 440513
• ClinVar RCV Id: RCV000508887 ; RCV001785651 ; RCV002383985 ; RCV003479145 ; RCV002467842 ; RCV004541593
• dbSNP Id: rs760832994
• ExAC: 2:21225264 CAT / C
• gnomAD v2: 2-21225264-CAT-C
• gnomAD v3: 2-21002392-CAT-C
• gnomAD v4: 2-21002392-CAT-C
• MyVariant Identifiers: chr2:g.21225265_21225266del (hg19) ; chr2:g.21002393_21002394del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21002395_21002396del , CM000664.2:g.21002395_21002396del	GRCh38
NC_000002.11:g.21225267_21225268del , CM000664.1:g.21225267_21225268del	GRCh37
NC_000002.10:g.21078772_21078773del	NCBI36
NG_011793.1:g.46680_46681del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233242.5:c.13028_13029del MANE Select	ENSP00000233242.1:p.Tyr4343CysfsTer3
ENST00000616098.4:c.13027-1_13027del
NM_000384.2:c.13028_13029del	NP_000375.2:p.Tyr4343CysfsTer3
XM_011532809.1:c.5870-3121_5870-3120del	XP_011531111.1:n.5870-3121_5870-3120del
NM_000384.3:c.13028_13029del MANE Select	NP_000375.3:p.Tyr4343CysfsTer3