Canonical Allele Identifier: CA2616111296

Gene: APOC3

Linked Data

• gnomAD v4: 11-116832879-GCCTGAGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.116832883_116832889del , CM000673.2:g.116832883_116832889del	GRCh38
NC_000011.9:g.116703599_116703605del , CM000673.1:g.116703599_116703605del	GRCh37
NC_000011.8:g.116208809_116208815del	NCBI36
NG_008949.1:g.7976_7982del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000227667.8:c.299_*5del MANE Select	ENSP00000227667.2:n.[c.299_*5del;Ter100SerextTer?]
ENST00000227667.7:c.299_*5del	ENSP00000227667.2:n.[c.299_*5del;Ter100SerextTer?]
ENST00000375345.3:c.353_*5del	ENSP00000364494.1:n.[c.353_*5del;Ter118SerextTer?]
ENST00000630701.1:c.353_359del	ENSP00000486182.1:n.[c.353_359del;Ter118SerextTer?]
NM_000040.1:c.299_*5del	NP_000031.1:n.[c.299_*5del;Ter100SerextTer?]
NM_000040.2:c.299_*5del	NP_000031.1:n.[c.299_*5del;Ter100SerextTer?]
NM_000040.3:c.299_*5del MANE Select	NP_000031.1:n.[c.299_*5del;Ter100SerextTer?]