Canonical Allele Identifier: CA2407481613

Gene: PNPLA3

Linked Data

• dbSNP Id: rs2049945252

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.43929168del , CM000684.2:g.43929168del	GRCh38
NC_000022.10:g.44325048del , CM000684.1:g.44325048del	GRCh37
NC_000022.9:g.42656381del	NCBI36
NG_008631.1:g.10430del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216180.8:c.486+279del MANE Select	ENSP00000216180.3:n.486+279del
ENST00000216180.7:c.486+279del	ENSP00000216180.3:n.486+279del
ENST00000406117.6:c.*118+279del	ENSP00000384668.2:n.*118+279del
ENST00000423180.2:c.474+279del	ENSP00000397987.2:n.474+279del
ENST00000478713.1:n.520+279del
NM_025225.2:c.486+279del	NP_079501.2:n.486+279del
NM_025225.3:c.486+279del MANE Select	NP_079501.2:n.486+279del