Canonical Allele Identifier: CA2407481317

Gene: PNPLA3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.43928587_43928593delinsGGAAGTT , CM000684.2:g.43928587_43928593delinsGGAAGTT	GRCh38
NC_000022.10:g.44324467_44324473delinsGGAAGTT , CM000684.1:g.44324467_44324473delinsGGAAGTT	GRCh37
NC_000022.9:g.42655800_42655806delinsGGAAGTT	NCBI36
NG_008631.1:g.9849_9855delinsGGAAGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216180.8:c.421-237_421-231delinsGGAAGTT MANE Select	ENSP00000216180.3:n.421-237_421-231delinsGGAAGTT
ENST00000216180.7:c.421-237_421-231delinsGGAAGTT	ENSP00000216180.3:n.421-237_421-231delinsGGAAGTT
ENST00000406117.6:c.*53-237_*53-231delinsGGAAGTT	ENSP00000384668.2:n.*53-237_*53-231delinsGGAAGTT
ENST00000423180.2:c.409-237_409-231delinsGGAAGTT	ENSP00000397987.2:n.409-237_409-231delinsGGAAGTT
ENST00000478713.1:n.455-237_455-231delinsGGAAGTT
NM_025225.2:c.421-237_421-231delinsGGAAGTT	NP_079501.2:n.421-237_421-231delinsGGAAGTT
NM_025225.3:c.421-237_421-231delinsGGAAGTT MANE Select	NP_079501.2:n.421-237_421-231delinsGGAAGTT