Canonical Allele Identifier: CA2749099868
Gene: APOB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21021157_21021158del , CM000664.2:g.21021157_21021158del GRCh38
NC_000002.11:g.21244029_21244030del , CM000664.1:g.21244029_21244030del GRCh37
NC_000002.10:g.21097534_21097535del NCBI36
NG_011793.1:g.27916_27917del

Transcript Alleles

HGVS Amino-acid Change
ENST00000673739.2:c.*2123-1253_*2123-1252del ENSP00000501110.2:n.*2123-1253_*2123-1252del
ENST00000673882.2:c.*2123-1253_*2123-1252del ENSP00000501253.2:n.*2123-1253_*2123-1252del
ENST00000673739.1:c.2531-1253_2531-1252del ENSP00000501110.1:n.2531-1253_2531-1252del
ENST00000673882.1:c.2531-1253_2531-1252del ENSP00000501253.1:n.2531-1253_2531-1252del
ENST00000233242.5:c.2817-1253_2817-1252del MANE Select ENSP00000233242.1:n.2817-1253_2817-1252del
ENST00000616098.4:c.2817-1253_2817-1252del ENSP00000477990.1:n.2817-1253_2817-1252del
NM_000384.2:c.2817-1253_2817-1252del NP_000375.2:n.2817-1253_2817-1252del
XM_011532809.1:c.2817-1253_2817-1252del XP_011531111.1:n.2817-1253_2817-1252del
NM_000384.3:c.2817-1253_2817-1252del MANE Select NP_000375.3:n.2817-1253_2817-1252del