Canonical Allele Identifier: CA645539127
Gene: APOB HGNC NCBI

Linked Data

COSMIC: COSM1727590
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21009524_21009525del , CM000664.2:g.21009524_21009525del GRCh38
NC_000002.11:g.21232396_21232397del , CM000664.1:g.21232396_21232397del GRCh37
NC_000002.10:g.21085901_21085902del NCBI36
NG_011793.1:g.39552_39553del

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.7346_7347del MANE Select ENSP00000233242.1:p.Arg2449ThrfsTer4
ENST00000616098.4:c.7346_7347del ENSP00000477990.1:p.Arg2449ThrfsTer4
NM_000384.2:c.7346_7347del NP_000375.2:p.Arg2449ThrfsTer4
XM_011532809.1:c.5869+1211_5869+1212del XP_011531111.1:n.5869+1211_5869+1212del
NM_000384.3:c.7346_7347del MANE Select NP_000375.3:p.Arg2449ThrfsTer4
Search 100 bp 5'
Search 100 bp 3'