Canonical Allele Identifier: CA2813477597

Gene: PNPLA6

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7560891_7560892insACAC , CM000681.2:g.7560891_7560892insACAC	GRCh38
NC_000019.9:g.7625777_7625778insACAC , CM000681.1:g.7625777_7625778insACAC	GRCh37
NC_000019.8:g.7531777_7531778insACAC	NCBI36
NG_013374.1:g.31740_31741insACAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000600737.6:c.3817-123_3817-122insACAC MANE Select	ENSP00000473211.1:n.3817-123_3817-122insACAC
ENST00000221249.10:c.3703-123_3703-122insACAC	ENSP00000221249.5:n.3703-123_3703-122insACAC
ENST00000414982.7:c.3847-123_3847-122insACAC	ENSP00000407509.2:n.3847-123_3847-122insACAC
ENST00000450331.7:c.3703-123_3703-122insACAC	ENSP00000394348.2:n.3703-123_3703-122insACAC
ENST00000545201.6:c.3622-123_3622-122insACAC	ENSP00000443323.1:n.3622-123_3622-122insACAC
ENST00000597202.1:n.175-123_175-122insACAC
ENST00000599947.1:c.186-123_186-122insACAC
ENST00000600737.5:c.3817-123_3817-122insACAC	ENSP00000473211.1:n.3817-123_3817-122insACAC
NM_001166111.1:c.3847-123_3847-122insACAC	NP_001159583.1:n.3847-123_3847-122insACAC
NM_001166112.1:c.3622-123_3622-122insACAC	NP_001159584.1:n.3622-123_3622-122insACAC
NM_001166113.1:c.3703-123_3703-122insACAC	NP_001159585.1:n.3703-123_3703-122insACAC
NM_001166114.1:c.3817-123_3817-122insACAC	NP_001159586.1:n.3817-123_3817-122insACAC
NM_006702.4:c.3703-123_3703-122insACAC	NP_006693.3:n.3703-123_3703-122insACAC
NM_001166111.2:c.3847-123_3847-122insACAC	NP_001159583.1:n.3847-123_3847-122insACAC
NM_001166114.2:c.3817-123_3817-122insACAC MANE Select	NP_001159586.1:n.3817-123_3817-122insACAC
NM_006702.5:c.3703-123_3703-122insACAC	NP_006693.3:n.3703-123_3703-122insACAC
NM_001166112.2:c.3622-123_3622-122insACAC	NP_001159584.1:n.3622-123_3622-122insACAC