Canonical Allele Identifier: CA2320979633

Gene: PNPLA6

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7561218_7561219delinsAG , CM000681.2:g.7561218_7561219delinsAG	GRCh38
NC_000019.9:g.7626104_7626105delinsAG , CM000681.1:g.7626104_7626105delinsAG	GRCh37
NC_000019.8:g.7532104_7532105delinsAG	NCBI36
NG_013374.1:g.32067_32068delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000600737.6:c.3924_3925delinsAG MANE Select	ENSP00000473211.1:p.Ser1308=
ENST00000221249.10:c.3810_3811delinsAG	ENSP00000221249.5:p.Ser1270=
ENST00000414982.7:c.3954_3955delinsAG	ENSP00000407509.2:p.Ser1318=
ENST00000450331.7:c.3810_3811delinsAG	ENSP00000394348.2:p.Ser1270=
ENST00000545201.6:c.3729_3730delinsAG	ENSP00000443323.1:p.Ser1243=
ENST00000597202.1:n.282_283delinsAG
ENST00000599947.1:c.293_294delinsAG
ENST00000600737.5:c.3924_3925delinsAG	ENSP00000473211.1:p.Ser1308=
NM_001166111.1:c.3954_3955delinsAG	NP_001159583.1:p.Ser1318=
NM_001166112.1:c.3729_3730delinsAG	NP_001159584.1:p.Ser1243=
NM_001166113.1:c.3810_3811delinsAG	NP_001159585.1:p.Ser1270=
NM_001166114.1:c.3924_3925delinsAG	NP_001159586.1:p.Ser1308=
NM_006702.4:c.3810_3811delinsAG	NP_006693.3:p.Ser1270=
NM_001166111.2:c.3954_3955delinsAG	NP_001159583.1:p.Ser1318=
NM_001166114.2:c.3924_3925delinsAG MANE Select	NP_001159586.1:p.Ser1308=
NM_006702.5:c.3810_3811delinsAG	NP_006693.3:p.Ser1270=
NM_001166112.2:c.3729_3730delinsAG	NP_001159584.1:p.Ser1243=