Canonical Allele Identifier: CA2657156798

Gene: PNPLA3

Linked Data

• gnomAD v4: 22-43928999-G-GGGCTCCACCA

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.43928999_43929000insGGCTCCACCA , CM000684.2:g.43928999_43929000insGGCTCCACCA	GRCh38
NC_000022.10:g.44324879_44324880insGGCTCCACCA , CM000684.1:g.44324879_44324880insGGCTCCACCA	GRCh37
NC_000022.9:g.42656212_42656213insGGCTCCACCA	NCBI36
NG_008631.1:g.10261_10262insGGCTCCACCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216180.8:c.486+110_486+111insGGCTCCACCA MANE Select	ENSP00000216180.3:n.486+110_486+111insGGCTCCACCA
ENST00000216180.7:c.486+110_486+111insGGCTCCACCA	ENSP00000216180.3:n.486+110_486+111insGGCTCCACCA
ENST00000406117.6:c.*118+110_*118+111insGGCTCCACCA	ENSP00000384668.2:n.*118+110_*118+111insGGCTCCACCA
ENST00000423180.2:c.474+110_474+111insGGCTCCACCA	ENSP00000397987.2:n.474+110_474+111insGGCTCCACCA
ENST00000478713.1:n.520+110_520+111insGGCTCCACCA
NM_025225.2:c.486+110_486+111insGGCTCCACCA	NP_079501.2:n.486+110_486+111insGGCTCCACCA
NM_025225.3:c.486+110_486+111insGGCTCCACCA MANE Select	NP_079501.2:n.486+110_486+111insGGCTCCACCA