Canonical Allele Identifier: CA2320979517

Gene: PNPLA6

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7561046_7561048delinsCTT , CM000681.2:g.7561046_7561048delinsCTT	GRCh38
NC_000019.9:g.7625932_7625934delinsCTT , CM000681.1:g.7625932_7625934delinsCTT	GRCh37
NC_000019.8:g.7531932_7531934delinsCTT	NCBI36
NG_013374.1:g.31895_31897delinsCTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000600737.6:c.3849_3851delinsCTT MANE Select	ENSP00000473211.1:p.Asp1283=
ENST00000221249.10:c.3735_3737delinsCTT	ENSP00000221249.5:p.Asp1245=
ENST00000414982.7:c.3879_3881delinsCTT	ENSP00000407509.2:p.Asp1293=
ENST00000450331.7:c.3735_3737delinsCTT	ENSP00000394348.2:p.Asp1245=
ENST00000545201.6:c.3654_3656delinsCTT	ENSP00000443323.1:p.Asp1218=
ENST00000597202.1:n.207_209delinsCTT
ENST00000599947.1:c.218_220delinsCTT
ENST00000600737.5:c.3849_3851delinsCTT	ENSP00000473211.1:p.Asp1283=
NM_001166111.1:c.3879_3881delinsCTT	NP_001159583.1:p.Asp1293=
NM_001166112.1:c.3654_3656delinsCTT	NP_001159584.1:p.Asp1218=
NM_001166113.1:c.3735_3737delinsCTT	NP_001159585.1:p.Asp1245=
NM_001166114.1:c.3849_3851delinsCTT	NP_001159586.1:p.Asp1283=
NM_006702.4:c.3735_3737delinsCTT	NP_006693.3:p.Asp1245=
NM_001166111.2:c.3879_3881delinsCTT	NP_001159583.1:p.Asp1293=
NM_001166114.2:c.3849_3851delinsCTT MANE Select	NP_001159586.1:p.Asp1283=
NM_006702.5:c.3735_3737delinsCTT	NP_006693.3:p.Asp1245=
NM_001166112.2:c.3654_3656delinsCTT	NP_001159584.1:p.Asp1218=