Canonical Allele Identifier: CA2509674619
Gene: APOB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21015204_21015205insGC , CM000664.2:g.21015204_21015205insGC GRCh38
NC_000002.11:g.21238076_21238077insGC , CM000664.1:g.21238076_21238077insGC GRCh37
NC_000002.10:g.21091581_21091582insGC NCBI36
NG_011793.1:g.33869_33870insGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000673739.2:c.*2870_*2871insGC ENSP00000501110.2:n.*2870_*2871insGC
ENST00000673882.2:c.*2659_*2660insGC ENSP00000501253.2:n.*2659_*2660insGC
ENST00000673739.1:c.3278_3279insGC ENSP00000501110.1:n.3278_3279insGC
ENST00000673882.1:c.3067_3068insGC ENSP00000501253.1:n.3067_3068insGC
ENST00000233242.5:c.3564_3565insGC MANE Select ENSP00000233242.1:p.Met1189AlafsTer2
ENST00000616098.4:c.3564_3565insGC ENSP00000477990.1:p.Met1189AlafsTer2
NM_000384.2:c.3564_3565insGC NP_000375.2:p.Met1189AlafsTer2
XM_011532809.1:c.3564_3565insGC XP_011531111.1:p.Met1189AlafsTer2
NM_000384.3:c.3564_3565insGC MANE Select NP_000375.3:p.Met1189AlafsTer2