Canonical Allele Identifier: CA2587958363

Gene: PNPLA6

Linked Data

• gnomAD v4: 19-7560979-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7560979_7560980insT , CM000681.2:g.7560979_7560980insT	GRCh38
NC_000019.9:g.7625865_7625866insT , CM000681.1:g.7625865_7625866insT	GRCh37
NC_000019.8:g.7531865_7531866insT	NCBI36
NG_013374.1:g.31828_31829insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000600737.6:c.3817-35_3817-34insT MANE Select	ENSP00000473211.1:n.3817-35_3817-34insT
ENST00000221249.10:c.3703-35_3703-34insT	ENSP00000221249.5:n.3703-35_3703-34insT
ENST00000414982.7:c.3847-35_3847-34insT	ENSP00000407509.2:n.3847-35_3847-34insT
ENST00000450331.7:c.3703-35_3703-34insT	ENSP00000394348.2:n.3703-35_3703-34insT
ENST00000545201.6:c.3622-35_3622-34insT	ENSP00000443323.1:n.3622-35_3622-34insT
ENST00000597202.1:n.175-35_175-34insT
ENST00000599947.1:c.186-35_186-34insT
ENST00000600737.5:c.3817-35_3817-34insT	ENSP00000473211.1:n.3817-35_3817-34insT
NM_001166111.1:c.3847-35_3847-34insT	NP_001159583.1:n.3847-35_3847-34insT
NM_001166112.1:c.3622-35_3622-34insT	NP_001159584.1:n.3622-35_3622-34insT
NM_001166113.1:c.3703-35_3703-34insT	NP_001159585.1:n.3703-35_3703-34insT
NM_001166114.1:c.3817-35_3817-34insT	NP_001159586.1:n.3817-35_3817-34insT
NM_006702.4:c.3703-35_3703-34insT	NP_006693.3:n.3703-35_3703-34insT
NM_001166111.2:c.3847-35_3847-34insT	NP_001159583.1:n.3847-35_3847-34insT
NM_001166114.2:c.3817-35_3817-34insT MANE Select	NP_001159586.1:n.3817-35_3817-34insT
NM_006702.5:c.3703-35_3703-34insT	NP_006693.3:n.3703-35_3703-34insT
NM_001166112.2:c.3622-35_3622-34insT	NP_001159584.1:n.3622-35_3622-34insT