Canonical Allele Identifier: CA1947314996

Gene: PNPLA2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.822079_822082delinsAGAG , CM000673.2:g.822079_822082delinsAGAG	GRCh38
NC_000011.9:g.822079_822082delinsAGAG , CM000673.1:g.822079_822082delinsAGAG	GRCh37
NC_000011.8:g.812079_812082delinsAGAG	NCBI36
NG_023394.1:g.8179_8182delinsAGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336615.9:c.486+56_486+59delinsAGAG MANE Select	ENSP00000337701.4:n.486+56_486+59delinsAGAG
ENST00000336615.8:c.486+56_486+59delinsAGAG	ENSP00000337701.4:n.486+56_486+59delinsAGAG
ENST00000525250.5:n.1092+56_1092+59delinsAGAG
ENST00000531923.1:n.64_67delinsAGAG
ENST00000534561.1:n.209_212delinsAGAG
ENST00000617551.1:c.-765+56_-765+59delinsAGAG	ENSP00000481602.1:n.-765+56_-765+59delinsAGAG
NM_020376.3:c.486+56_486+59delinsAGAG	NP_065109.1:n.486+56_486+59delinsAGAG
XM_006718265.2:c.486+56_486+59delinsAGAG	XP_006718328.1:n.486+56_486+59delinsAGAG
XM_006718266.2:c.486+56_486+59delinsAGAG	XP_006718329.1:n.486+56_486+59delinsAGAG
XM_006718265.3:c.486+56_486+59delinsAGAG	XP_006718328.1:n.486+56_486+59delinsAGAG
XM_006718266.3:c.486+56_486+59delinsAGAG	XP_006718329.1:n.486+56_486+59delinsAGAG
XM_017018028.1:c.486+56_486+59delinsAGAG	XP_016873517.1:n.486+56_486+59delinsAGAG
XM_024448618.1:c.486+56_486+59delinsAGAG	XP_024304386.1:n.486+56_486+59delinsAGAG
NM_020376.4:c.486+56_486+59delinsAGAG MANE Select	NP_065109.1:n.486+56_486+59delinsAGAG