Canonical Allele Identifier: CA2657156837

Gene: PNPLA3

Linked Data

• gnomAD v4: 22-43929036-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.43929038del , CM000684.2:g.43929038del	GRCh38
NC_000022.10:g.44324918del , CM000684.1:g.44324918del	GRCh37
NC_000022.9:g.42656251del	NCBI36
NG_008631.1:g.10300del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216180.8:c.486+149del MANE Select	ENSP00000216180.3:n.486+149del
ENST00000216180.7:c.486+149del	ENSP00000216180.3:n.486+149del
ENST00000406117.6:c.*118+149del	ENSP00000384668.2:n.*118+149del
ENST00000423180.2:c.474+149del	ENSP00000397987.2:n.474+149del
ENST00000478713.1:n.520+149del
NM_025225.2:c.486+149del	NP_079501.2:n.486+149del
NM_025225.3:c.486+149del MANE Select	NP_079501.2:n.486+149del