Canonical Allele Identifier: CA1947315045

Gene: PNPLA2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.822146_822148delinsCTG , CM000673.2:g.822146_822148delinsCTG	GRCh38
NC_000011.9:g.822146_822148delinsCTG , CM000673.1:g.822146_822148delinsCTG	GRCh37
NC_000011.8:g.812146_812148delinsCTG	NCBI36
NG_023394.1:g.8246_8248delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336615.9:c.486+123_486+125delinsCTG MANE Select	ENSP00000337701.4:n.486+123_486+125delinsCTG
ENST00000336615.8:c.486+123_486+125delinsCTG	ENSP00000337701.4:n.486+123_486+125delinsCTG
ENST00000525250.5:n.1092+123_1092+125delinsCTG
ENST00000531923.1:n.131_133delinsCTG
ENST00000534561.1:n.276_278delinsCTG
ENST00000617551.1:c.-765+123_-765+125delinsCTG	ENSP00000481602.1:n.-765+123_-765+125delinsCTG
NM_020376.3:c.486+123_486+125delinsCTG	NP_065109.1:n.486+123_486+125delinsCTG
XM_006718265.2:c.486+123_486+125delinsCTG	XP_006718328.1:n.486+123_486+125delinsCTG
XM_006718266.2:c.486+123_486+125delinsCTG	XP_006718329.1:n.486+123_486+125delinsCTG
XM_006718265.3:c.486+123_486+125delinsCTG	XP_006718328.1:n.486+123_486+125delinsCTG
XM_006718266.3:c.486+123_486+125delinsCTG	XP_006718329.1:n.486+123_486+125delinsCTG
XM_017018028.1:c.486+123_486+125delinsCTG	XP_016873517.1:n.486+123_486+125delinsCTG
XM_024448618.1:c.486+123_486+125delinsCTG	XP_024304386.1:n.486+123_486+125delinsCTG
NM_020376.4:c.486+123_486+125delinsCTG MANE Select	NP_065109.1:n.486+123_486+125delinsCTG