Canonical Allele Identifier: CA2407481558

Gene: PNPLA3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.43929042_43929043delinsGC , CM000684.2:g.43929042_43929043delinsGC	GRCh38
NC_000022.10:g.44324922_44324923delinsGC , CM000684.1:g.44324922_44324923delinsGC	GRCh37
NC_000022.9:g.42656255_42656256delinsGC	NCBI36
NG_008631.1:g.10304_10305delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216180.8:c.486+153_486+154delinsGC MANE Select	ENSP00000216180.3:n.486+153_486+154delinsGC
ENST00000216180.7:c.486+153_486+154delinsGC	ENSP00000216180.3:n.486+153_486+154delinsGC
ENST00000406117.6:c.*118+153_*118+154delinsGC	ENSP00000384668.2:n.*118+153_*118+154delinsGC
ENST00000423180.2:c.474+153_474+154delinsGC	ENSP00000397987.2:n.474+153_474+154delinsGC
ENST00000478713.1:n.520+153_520+154delinsGC
NM_025225.2:c.486+153_486+154delinsGC	NP_079501.2:n.486+153_486+154delinsGC
NM_025225.3:c.486+153_486+154delinsGC MANE Select	NP_079501.2:n.486+153_486+154delinsGC