Canonical Allele Identifier: CA2407481622

Gene: PNPLA3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.43929186_43929188delinsATG , CM000684.2:g.43929186_43929188delinsATG	GRCh38
NC_000022.10:g.44325066_44325068delinsATG , CM000684.1:g.44325066_44325068delinsATG	GRCh37
NC_000022.9:g.42656399_42656401delinsATG	NCBI36
NG_008631.1:g.10448_10450delinsATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216180.8:c.486+297_486+299delinsATG MANE Select	ENSP00000216180.3:n.486+297_486+299delinsATG
ENST00000216180.7:c.486+297_486+299delinsATG	ENSP00000216180.3:n.486+297_486+299delinsATG
ENST00000406117.6:c.*118+297_*118+299delinsATG	ENSP00000384668.2:n.*118+297_*118+299delinsATG
ENST00000423180.2:c.474+297_474+299delinsATG	ENSP00000397987.2:n.474+297_474+299delinsATG
ENST00000478713.1:n.520+297_520+299delinsATG
NM_025225.2:c.486+297_486+299delinsATG	NP_079501.2:n.486+297_486+299delinsATG
NM_025225.3:c.486+297_486+299delinsATG MANE Select	NP_079501.2:n.486+297_486+299delinsATG