Canonical Allele Identifier: CA2407482069

Gene: PNPLA3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.43930057_43930058delinsCG , CM000684.2:g.43930057_43930058delinsCG	GRCh38
NC_000022.10:g.44325937_44325938delinsCG , CM000684.1:g.44325937_44325938delinsCG	GRCh37
NC_000022.9:g.42657270_42657271delinsCG	NCBI36
NG_008631.1:g.11319_11320delinsCG

Transcript Alleles

HGVS	Amino-acid change
ENST00000216180.8:c.486+1168_486+1169delinsCG MANE Select	ENSP00000216180.3:n.486+1168_486+1169delinsCG
ENST00000216180.7:c.486+1168_486+1169delinsCG	ENSP00000216180.3:n.486+1168_486+1169delinsCG
ENST00000406117.6:c.*118+1168_*118+1169delinsCG	ENSP00000384668.2:n.*118+1168_*118+1169delinsCG
ENST00000423180.2:c.474+1168_474+1169delinsCG	ENSP00000397987.2:n.474+1168_474+1169delinsCG
ENST00000478713.1:n.520+1168_520+1169delinsCG
NM_025225.2:c.486+1168_486+1169delinsCG	NP_079501.2:n.486+1168_486+1169delinsCG
NM_025225.3:c.486+1168_486+1169delinsCG MANE Select	NP_079501.2:n.486+1168_486+1169delinsCG