Canonical Allele Identifier: CA916488170
Gene: APOB HGNC NCBI

Linked Data

dbSNP Id: rs1572787788
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21015252_21015258del , CM000664.2:g.21015252_21015258del GRCh38
NC_000002.11:g.21238124_21238130del , CM000664.1:g.21238124_21238130del GRCh37
NC_000002.10:g.21091629_21091635del NCBI36
NG_011793.1:g.33816_33822del

Transcript Alleles

HGVS Amino-acid Change
ENST00000673739.2:c.*2817_*2823del ENSP00000501110.2:n.*2817_*2823del
ENST00000673882.2:c.*2606_*2612del ENSP00000501253.2:n.*2606_*2612del
ENST00000673739.1:c.3225_3231del ENSP00000501110.1:n.3225_3231del
ENST00000673882.1:c.3014_3020del ENSP00000501253.1:n.3014_3020del
ENST00000233242.5:c.3511_3517del MANE Select ENSP00000233242.1:p.Glu1171ArgfsTer12
ENST00000616098.4:c.3511_3517del ENSP00000477990.1:p.Glu1171ArgfsTer12
NM_000384.2:c.3511_3517del NP_000375.2:p.Glu1171ArgfsTer12
XM_011532809.1:c.3511_3517del XP_011531111.1:p.Glu1171ArgfsTer12
NM_000384.3:c.3511_3517del MANE Select NP_000375.3:p.Glu1171ArgfsTer12
Search 100 bp 5'
Search 100 bp 3'