Canonical Allele Identifier: CA2657154846

Gene: PNPLA3

Linked Data

• gnomAD v4: 22-43946465-TGTA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.43946468_43946470del , CM000684.2:g.43946468_43946470del	GRCh38
NC_000022.10:g.44342348_44342350del , CM000684.1:g.44342348_44342350del	GRCh37
NC_000022.9:g.42673681_42673683del	NCBI36
NG_008631.1:g.27730_27732del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216180.8:c.*86_*88del MANE Select	ENSP00000216180.3:n.*86_*88del
ENST00000216180.7:c.*86_*88del	ENSP00000216180.3:n.*86_*88del
ENST00000406117.6:c.*849+1673_*849+1675del	ENSP00000384668.2:n.*849+1673_*849+1675del
ENST00000423180.2:c.*86_*88del	ENSP00000397987.2:n.*86_*88del
NM_025225.2:c.*86_*88del	NP_079501.2:n.*86_*88del
NM_025225.3:c.*86_*88del MANE Select	NP_079501.2:n.*86_*88del