Canonical Allele Identifier: CA2407481612

Gene: PNPLA3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.43929167_43929168delinsAG , CM000684.2:g.43929167_43929168delinsAG	GRCh38
NC_000022.10:g.44325047_44325048delinsAG , CM000684.1:g.44325047_44325048delinsAG	GRCh37
NC_000022.9:g.42656380_42656381delinsAG	NCBI36
NG_008631.1:g.10429_10430delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216180.8:c.486+278_486+279delinsAG MANE Select	ENSP00000216180.3:n.486+278_486+279delinsAG
ENST00000216180.7:c.486+278_486+279delinsAG	ENSP00000216180.3:n.486+278_486+279delinsAG
ENST00000406117.6:c.*118+278_*118+279delinsAG	ENSP00000384668.2:n.*118+278_*118+279delinsAG
ENST00000423180.2:c.474+278_474+279delinsAG	ENSP00000397987.2:n.474+278_474+279delinsAG
ENST00000478713.1:n.520+278_520+279delinsAG
NM_025225.2:c.486+278_486+279delinsAG	NP_079501.2:n.486+278_486+279delinsAG
NM_025225.3:c.486+278_486+279delinsAG MANE Select	NP_079501.2:n.486+278_486+279delinsAG