Canonical Allele Identifier: CA764086618
Gene: APOB HGNC NCBI

Linked Data

dbSNP Id: rs1353000396
gnomAD v3: 2-21001822-AT-A
gnomAD v4: 2-21001822-AT-A
MyVariant Identifiers: chr2:g.21224695del (hg19) chr2:g.21001823del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21001823del , CM000664.2:g.21001823del GRCh38
NC_000002.11:g.21224695del , CM000664.1:g.21224695del GRCh37
NC_000002.10:g.21078200del NCBI36
NG_011793.1:g.47251del

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.13599del MANE Select ENSP00000233242.1:p.Tyr4534ThrfsTer6
ENST00000616098.4:c.13597del ENSP00000477990.1:n.13597del
NM_000384.2:c.13599del NP_000375.2:p.Tyr4534ThrfsTer6
XM_011532809.1:c.5870-2550del XP_011531111.1:n.5870-2550del
NM_000384.3:c.13599del MANE Select NP_000375.3:p.Tyr4534ThrfsTer6
Search 100 bp 5'
Search 100 bp 3'