Canonical Allele Identifier: CA942637541
Gene: APOC3 HGNC NCBI

Linked Data

gnomAD v3: 11-116830612-CCTCCTGGCG-C
gnomAD v4: 11-116830612-CCTCCTGGCG-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.116830621_116830629del , CM000673.2:g.116830621_116830629del GRCh38
NC_000011.9:g.116701337_116701345del , CM000673.1:g.116701337_116701345del GRCh37
NC_000011.8:g.116206547_116206555del NCBI36
NG_008949.1:g.5714_5722del

Transcript Alleles

HGVS Amino-acid Change
ENST00000227667.8:c.39_47del MANE Select ENSP00000227667.2:p.Leu14_Ala16del
ENST00000227667.7:c.39_47del ENSP00000227667.2:p.Leu14_Ala16del
ENST00000375345.3:c.93_101del ENSP00000364494.1:p.Leu32_Ala34del
ENST00000433777.5:c.39_47del ENSP00000410614.1:p.Leu14_Ala16del
ENST00000470144.1:n.71_79del
ENST00000630701.1:c.93_101del ENSP00000486182.1:p.Leu32_Ala34del
NM_000040.1:c.39_47del NP_000031.1:p.Leu14_Ala16del
NM_000040.2:c.39_47del NP_000031.1:p.Leu14_Ala16del
NM_000040.3:c.39_47del MANE Select NP_000031.1:p.Leu14_Ala16del
Search 100 bp 5'
Search 100 bp 3'