Canonical Allele Identifier: CA2611771820

Gene: PNPLA2

Linked Data

• gnomAD v4: 11-822188-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.822194del , CM000673.2:g.822194del	GRCh38
NC_000011.9:g.822194del , CM000673.1:g.822194del	GRCh37
NC_000011.8:g.812194del	NCBI36
NG_023394.1:g.8294del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336615.9:c.486+171del MANE Select	ENSP00000337701.4:n.486+171del
ENST00000336615.8:c.486+171del	ENSP00000337701.4:n.486+171del
ENST00000525250.5:n.1092+171del
ENST00000531923.1:n.179del
ENST00000534561.1:n.324del
ENST00000617551.1:c.-765+171del	ENSP00000481602.1:n.-765+171del
NM_020376.3:c.486+171del	NP_065109.1:n.486+171del
XM_006718265.2:c.486+171del	XP_006718328.1:n.486+171del
XM_006718266.2:c.486+171del	XP_006718329.1:n.486+171del
XM_006718265.3:c.486+171del	XP_006718328.1:n.486+171del
XM_006718266.3:c.486+171del	XP_006718329.1:n.486+171del
XM_017018028.1:c.486+171del	XP_016873517.1:n.486+171del
XM_024448618.1:c.486+171del	XP_024304386.1:n.486+171del
NM_020376.4:c.486+171del MANE Select	NP_065109.1:n.486+171del