Canonical Allele Identifier: CA1026100323

Gene: PNPLA3

Linked Data

• gnomAD v3: 22-43928725-C-CTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTGATGTTTTTTTTTTTTTCTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTATT
• gnomAD v4: 22-43928725-C-CTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTGATGTTTTTTTTTTTTTCTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTATT

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.43928725_43928726insTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTGATGTTTTTTTTTTTTTCTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTATT , CM000684.2:g.43928725_43928726insTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTGATGTTTTTTTTTTTTTCTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTATT	GRCh38
NC_000022.10:g.44324605_44324606insTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTGATGTTTTTTTTTTTTTCTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTATT , CM000684.1:g.44324605_44324606insTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTGATGTTTTTTTTTTTTTCTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTATT	GRCh37
NC_000022.9:g.42655938_42655939insTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTGATGTTTTTTTTTTTTTCTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTATT	NCBI36
NG_008631.1:g.9987_9988insTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTGATGTTTTTTTTTTTTTCTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216180.8:c.421-99_421-98insTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTGATGTTTTTTTTTTTTTCTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTATT MANE Select	ENSP00000216180.3:n.421-99_421-98insTTTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000216180.7:c.421-99_421-98insTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTGATGTTTTTTTTTTTTTCTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTATT	ENSP00000216180.3:n.421-99_421-98insTTTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000406117.6:c.*53-99_*53-98insTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTGATGTTTTTTTTTTTTTCTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTATT	ENSP00000384668.2:n.*53-99_*53-98insTTTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000423180.2:c.409-99_409-98insTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTGATGTTTTTTTTTTTTTCTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTATT	ENSP00000397987.2:n.409-99_409-98insTTTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000478713.1:n.455-99_455-98insTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTGATGTTTTTTTTTTTTTCTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTATT
NM_025225.2:c.421-99_421-98insTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTGATGTTTTTTTTTTTTTCTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTATT	NP_079501.2:n.421-99_421-98insTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGT...
NM_025225.3:c.421-99_421-98insTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTGATGTTTTTTTTTTTTTCTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTATT MANE Select	NP_079501.2:n.421-99_421-98insTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGT...