Canonical Allele Identifier: CA531306025
Gene: APOB HGNC NCBI

Linked Data

dbSNP Id: rs1451680447
gnomAD v2: 2-21224650-CATGACTGTGGTTG-C
gnomAD v4: 2-21001778-CATGACTGTGGTTG-C
MyVariant Identifiers: chr2:g.21224651_21224663del (hg19) chr2:g.21001779_21001791del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21001781_21001793del , CM000664.2:g.21001781_21001793del GRCh38
NC_000002.11:g.21224653_21224665del , CM000664.1:g.21224653_21224665del GRCh37
NC_000002.10:g.21078158_21078170del NCBI36
NG_011793.1:g.47283_47295del

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.13631_13643del MANE Select ENSP00000233242.1:p.Ser4544Ter
ENST00000616098.4:c.13629_13641del ENSP00000477990.1:n.13629_13641del
NM_000384.2:c.13631_13643del NP_000375.2:p.Ser4544Ter
XM_011532809.1:c.5870-2518_5870-2506del XP_011531111.1:n.5870-2518_5870-2506del
NM_000384.3:c.13631_13643del MANE Select NP_000375.3:p.Ser4544Ter
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