Canonical Allele Identifier: CA916083678

Gene: PNPLA6

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7561519_7561520delinsAT , CM000681.2:g.7561519_7561520delinsAT	GRCh38
NC_000019.9:g.7626405_7626406delinsAT , CM000681.1:g.7626405_7626406delinsAT	GRCh37
NC_000019.8:g.7532405_7532406delinsAT	NCBI36
NG_013374.1:g.32368_32369delinsAT

Transcript Alleles

HGVS	Amino-acid Change
NM_001166114.2:c.4055_4056delinsAT MANE Select	NP_001159586.1:p.Arg1352His
ENST00000600737.6:c.4055_4056delinsAT MANE Select	ENSP00000473211.1:p.Arg1352His
NM_001166111.1:c.4085_4086delinsAT	NP_001159583.1:p.Arg1362His
NM_001166111.2:c.4085_4086delinsAT	NP_001159583.1:p.Arg1362His
NM_001166112.1:c.3860_3861delinsAT	NP_001159584.1:p.Arg1287His
NM_001166112.2:c.3860_3861delinsAT	NP_001159584.1:p.Arg1287His
NM_001166113.1:c.3941_3942delinsAT	NP_001159585.1:p.Arg1314His
NM_001166114.1:c.4055_4056delinsAT	NP_001159586.1:p.Arg1352His
NM_006702.4:c.3941_3942delinsAT	NP_006693.3:p.Arg1314His
NM_006702.5:c.3941_3942delinsAT	NP_006693.3:p.Arg1314His
ENST00000221249.10:c.3941_3942delinsAT	ENSP00000221249.5:p.Arg1314His
ENST00000414982.7:c.4085_4086delinsAT	ENSP00000407509.2:p.Arg1362His
ENST00000450331.7:c.3941_3942delinsAT	ENSP00000394348.2:p.Arg1314His
ENST00000545201.6:c.3860_3861delinsAT	ENSP00000443323.1:p.Arg1287His
ENST00000597202.1:n.413_414delinsAT
ENST00000599947.1:c.424_425delinsAT
ENST00000600737.5:c.4055_4056delinsAT	ENSP00000473211.1:p.Arg1352His