Canonical Allele Identifier: CA16043653
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 374255
ClinVar RCV Id: RCV000415324 RCV000853310
dbSNP Id: rs1057518647
MyVariant Identifiers: chr2:g.21242600_21242606del (hg19) chr2:g.21019728_21019734del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21019731_21019737del , CM000664.2:g.21019731_21019737del GRCh38
NC_000002.11:g.21242603_21242609del , CM000664.1:g.21242603_21242609del GRCh37
NC_000002.10:g.21096108_21096114del NCBI36
NG_011793.1:g.29340_29346del

Transcript Alleles

HGVS Amino-acid change
ENST00000673739.2:c.*2294_*2300del ENSP00000501110.2:n.*2294_*2300del
ENST00000673882.2:c.*2294_*2300del ENSP00000501253.2:n.*2294_*2300del
ENST00000673739.1:c.2702_2708del ENSP00000501110.1:n.2702_2708del
ENST00000673882.1:c.2702_2708del ENSP00000501253.1:n.2702_2708del
ENST00000233242.5:c.2988_2994del MANE Select ENSP00000233242.1:p.Gly997ProfsTer3
ENST00000616098.4:c.2988_2994del ENSP00000477990.1:p.Gly997ProfsTer3
NM_000384.2:c.2988_2994del NP_000375.2:p.Gly997ProfsTer3
XM_011532809.1:c.2988_2994del XP_011531111.1:p.Gly997ProfsTer3
NM_000384.3:c.2988_2994del MANE Select NP_000375.3:p.Gly997ProfsTer3
Search 100 bp 5'
Search 100 bp 3'