Canonical Allele Identifier: CA2657156826

Gene: PNPLA3

Linked Data

• gnomAD v4: 22-43929024-TCAGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.43929029_43929032del , CM000684.2:g.43929029_43929032del	GRCh38
NC_000022.10:g.44324909_44324912del , CM000684.1:g.44324909_44324912del	GRCh37
NC_000022.9:g.42656242_42656245del	NCBI36
NG_008631.1:g.10291_10294del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216180.8:c.486+140_486+143del MANE Select	ENSP00000216180.3:n.486+140_486+143del
ENST00000216180.7:c.486+140_486+143del	ENSP00000216180.3:n.486+140_486+143del
ENST00000406117.6:c.*118+140_*118+143del	ENSP00000384668.2:n.*118+140_*118+143del
ENST00000423180.2:c.474+140_474+143del	ENSP00000397987.2:n.474+140_474+143del
ENST00000478713.1:n.520+140_520+143del
NM_025225.2:c.486+140_486+143del	NP_079501.2:n.486+140_486+143del
NM_025225.3:c.486+140_486+143del MANE Select	NP_079501.2:n.486+140_486+143del