Canonical Allele Identifier: CA2407481585

Gene: PNPLA3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.43929102_43929103delinsTG , CM000684.2:g.43929102_43929103delinsTG	GRCh38
NC_000022.10:g.44324982_44324983delinsTG , CM000684.1:g.44324982_44324983delinsTG	GRCh37
NC_000022.9:g.42656315_42656316delinsTG	NCBI36
NG_008631.1:g.10364_10365delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216180.8:c.486+213_486+214delinsTG MANE Select	ENSP00000216180.3:n.486+213_486+214delinsTG
ENST00000216180.7:c.486+213_486+214delinsTG	ENSP00000216180.3:n.486+213_486+214delinsTG
ENST00000406117.6:c.*118+213_*118+214delinsTG	ENSP00000384668.2:n.*118+213_*118+214delinsTG
ENST00000423180.2:c.474+213_474+214delinsTG	ENSP00000397987.2:n.474+213_474+214delinsTG
ENST00000478713.1:n.520+213_520+214delinsTG
NM_025225.2:c.486+213_486+214delinsTG	NP_079501.2:n.486+213_486+214delinsTG
NM_025225.3:c.486+213_486+214delinsTG MANE Select	NP_079501.2:n.486+213_486+214delinsTG