Canonical Allele Identifier: CA2587958459

Gene: PNPLA6

Linked Data

• gnomAD v4: 19-7561229-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7561232_7561233del , CM000681.2:g.7561232_7561233del	GRCh38
NC_000019.9:g.7626118_7626119del , CM000681.1:g.7626118_7626119del	GRCh37
NC_000019.8:g.7532118_7532119del	NCBI36
NG_013374.1:g.32081_32082del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000600737.6:c.3938_3939del MANE Select	ENSP00000473211.1:p.Glu1313ValfsTer2
ENST00000221249.10:c.3824_3825del	ENSP00000221249.5:p.Glu1275ValfsTer2
ENST00000414982.7:c.3968_3969del	ENSP00000407509.2:p.Glu1323ValfsTer2
ENST00000450331.7:c.3824_3825del	ENSP00000394348.2:p.Glu1275ValfsTer2
ENST00000545201.6:c.3743_3744del	ENSP00000443323.1:p.Glu1248ValfsTer2
ENST00000597202.1:n.296_297del
ENST00000599947.1:c.307_308del
ENST00000600737.5:c.3938_3939del	ENSP00000473211.1:p.Glu1313ValfsTer2
NM_001166111.1:c.3968_3969del	NP_001159583.1:p.Glu1323ValfsTer2
NM_001166112.1:c.3743_3744del	NP_001159584.1:p.Glu1248ValfsTer2
NM_001166113.1:c.3824_3825del	NP_001159585.1:p.Glu1275ValfsTer2
NM_001166114.1:c.3938_3939del	NP_001159586.1:p.Glu1313ValfsTer2
NM_006702.4:c.3824_3825del	NP_006693.3:p.Glu1275ValfsTer2
NM_001166111.2:c.3968_3969del	NP_001159583.1:p.Glu1323ValfsTer2
NM_001166114.2:c.3938_3939del MANE Select	NP_001159586.1:p.Glu1313ValfsTer2
NM_006702.5:c.3824_3825del	NP_006693.3:p.Glu1275ValfsTer2
NM_001166112.2:c.3743_3744del	NP_001159584.1:p.Glu1248ValfsTer2