Canonical Allele Identifier: CA2658057243
Gene: APOB HGNC NCBI

Linked Data

gnomAD v4: 2-21015495-C-CG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21015499dup , CM000664.2:g.21015499dup GRCh38
NC_000002.11:g.21238371dup , CM000664.1:g.21238371dup GRCh37
NC_000002.10:g.21091876dup NCBI36
NG_011793.1:g.33578dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000673739.2:c.*2688dup ENSP00000501110.2:n.*2688dup
ENST00000673882.2:c.*2477dup ENSP00000501253.2:n.*2477dup
ENST00000673739.1:c.3096dup ENSP00000501110.1:n.3096dup
ENST00000673882.1:c.2885dup ENSP00000501253.1:n.2885dup
ENST00000233242.5:c.3382dup MANE Select ENSP00000233242.1:p.Arg1128ProfsTer9
ENST00000616098.4:c.3382dup ENSP00000477990.1:p.Arg1128ProfsTer9
NM_000384.2:c.3382dup NP_000375.2:p.Arg1128ProfsTer9
XM_011532809.1:c.3382dup XP_011531111.1:p.Arg1128ProfsTer9
NM_000384.3:c.3382dup MANE Select NP_000375.3:p.Arg1128ProfsTer9
Search 100 bp 5'
Search 100 bp 3'