Canonical Allele Identifier: CA8071166
Gene: CETP HGNC NCBI
gnomAD v2:
16:57009034 TTCAACACCAA / T
gnomAD v3:
16:56975122 TTCAACACCAA / T
gnomAD v4:
chr16-56975122-TTCAACACCAA-T
Joint Max Group AF 0.00005299 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.0000551 (NFE)
ClinVar RCV:
RCV000490022
ClinVar Variation:
426658
dbSNP:
779824367
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56975123_56975132del , CM000678.2:g.56975123_56975132del GRCh38
NC_000016.9:g.57009035_57009044del , CM000678.1:g.57009035_57009044del GRCh37
NC_000016.8:g.55566536_55566545del NCBI36
NG_008952.1:g.18201_18210del

Transcript Alleles

HGVS Amino-acid Change
ENST00000200676.8:c.953_962del MANE Select ENSP00000200676.3:p.Phe318SerfsTer?
ENST00000200676.7:c.953_962del ENSP00000200676.3:p.Phe318SerfsTer?
ENST00000379780.6:c.773_782del ENSP00000369106.2:p.Phe258SerfsTer?
ENST00000566128.1:c.758_767del ENSP00000456276.1:p.Phe253SerfsTer?
NM_000078.2:c.953_962del NP_000069.2:p.Phe318SerfsTer?
NM_001286085.1:c.773_782del NP_001273014.1:p.Phe258SerfsTer?
NM_000078.3:c.953_962del MANE Select NP_000069.2:p.Phe318SerfsTer?
NM_001286085.2:c.773_782del NP_001273014.1:p.Phe258SerfsTer?
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