Canonical Allele Identifier: CA1947315246

Gene: PNPLA2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.822406_822411delinsGATGGT , CM000673.2:g.822406_822411delinsGATGGT	GRCh38
NC_000011.9:g.822406_822411delinsGATGGT , CM000673.1:g.822406_822411delinsGATGGT	GRCh37
NC_000011.8:g.812406_812411delinsGATGGT	NCBI36
NG_023394.1:g.8506_8511delinsGATGGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000336615.9:c.496_501delinsGATGGT MANE Select	ENSP00000337701.4:p.Asp166=
ENST00000336615.8:c.496_501delinsGATGGT	ENSP00000337701.4:p.Asp166=
ENST00000525250.5:n.1102_1107delinsGATGGT
ENST00000531923.1:n.391_396delinsGATGGT
ENST00000617551.1:c.-755_-750delinsGATGGT	ENSP00000481602.1:n.-755_-750delinsGATGGT...
NM_020376.3:c.496_501delinsGATGGT	NP_065109.1:p.Asp166=
XM_006718265.2:c.496_501delinsGATGGT	XP_006718328.1:p.Asp166=
XM_006718266.2:c.496_501delinsGATGGT	XP_006718329.1:p.Asp166=
XM_006718265.3:c.496_501delinsGATGGT	XP_006718328.1:p.Asp166=
XM_006718266.3:c.496_501delinsGATGGT	XP_006718329.1:p.Asp166=
XM_017018028.1:c.496_501delinsGATGGT	XP_016873517.1:p.Asp166=
XM_024448618.1:c.496_501delinsGATGGT	XP_024304386.1:p.Asp166=
NM_020376.4:c.496_501delinsGATGGT MANE Select	NP_065109.1:p.Asp166=