Canonical Allele Identifier: CA2611772230

Gene: PNPLA2

Linked Data

• gnomAD v4: 11-822236-TCAGTGCCCAGGCTGGCCCACAGC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.822247_822269del , CM000673.2:g.822247_822269del	GRCh38
NC_000011.9:g.822247_822269del , CM000673.1:g.822247_822269del	GRCh37
NC_000011.8:g.812247_812269del	NCBI36
NG_023394.1:g.8347_8369del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336615.9:c.487-150_487-128del MANE Select	ENSP00000337701.4:n.487-150_487-128del
ENST00000336615.8:c.487-150_487-128del	ENSP00000337701.4:n.487-150_487-128del
ENST00000525250.5:n.1093-150_1093-128del
ENST00000531923.1:n.232_254del
ENST00000617551.1:c.-764-150_-764-128del	ENSP00000481602.1:n.-764-150_-764-128del
NM_020376.3:c.487-150_487-128del	NP_065109.1:n.487-150_487-128del
XM_006718265.2:c.487-150_487-128del	XP_006718328.1:n.487-150_487-128del
XM_006718266.2:c.487-150_487-128del	XP_006718329.1:n.487-150_487-128del
XM_006718265.3:c.487-150_487-128del	XP_006718328.1:n.487-150_487-128del
XM_006718266.3:c.487-150_487-128del	XP_006718329.1:n.487-150_487-128del
XM_017018028.1:c.487-150_487-128del	XP_016873517.1:n.487-150_487-128del
XM_024448618.1:c.487-150_487-128del	XP_024304386.1:n.487-150_487-128del
NM_020376.4:c.487-150_487-128del MANE Select	NP_065109.1:n.487-150_487-128del