Canonical Allele Identifier: CA2695212927

Gene: PNPLA2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.822012_822013insCTCC , CM000673.2:g.822012_822013insCTCC	GRCh38
NC_000011.9:g.822012_822013insCTCC , CM000673.1:g.822012_822013insCTCC	GRCh37
NC_000011.8:g.812012_812013insCTCC	NCBI36
NG_023394.1:g.8112_8113insCTCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336615.9:c.475_476insCTCC MANE Select	ENSP00000337701.4:p.Leu159ProfsTer20
ENST00000336615.8:c.475_476insCTCC	ENSP00000337701.4:p.Leu159ProfsTer20
ENST00000525250.5:n.1081_1082insCTCC
ENST00000534561.1:n.142_143insCTCC
ENST00000617551.1:c.-776_-775insCTCC	ENSP00000481602.1:n.-776_-775insCTCC
NM_020376.3:c.475_476insCTCC	NP_065109.1:p.Leu159ProfsTer20
XM_006718265.2:c.475_476insCTCC	XP_006718328.1:p.Leu159ProfsTer20
XM_006718266.2:c.475_476insCTCC	XP_006718329.1:p.Leu159ProfsTer20
XM_006718265.3:c.475_476insCTCC	XP_006718328.1:p.Leu159ProfsTer20
XM_006718266.3:c.475_476insCTCC	XP_006718329.1:p.Leu159ProfsTer20
XM_017018028.1:c.475_476insCTCC	XP_016873517.1:p.Leu159ProfsTer20
XM_024448618.1:c.475_476insCTCC	XP_024304386.1:p.Leu159ProfsTer20
NM_020376.4:c.475_476insCTCC MANE Select	NP_065109.1:p.Leu159ProfsTer20