Canonical Allele Identifier: CA639583148

Gene: PNPLA3

Linked Data

• dbSNP Id: rs1232994890
• gnomAD v2: 22-44324603-T-TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGG
• gnomAD v3: 22-43928723-T-TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGG
• gnomAD v4: 22-43928723-T-TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGG
• MyVariant Identifiers: chr22:g.44324603_44324604insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGG (hg19) ; chr22:g.43928723_43928724insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.43928724_43928725insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGT , CM000684.2:g.43928724_43928725insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGT	GRCh38
NC_000022.10:g.44324604_44324605insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGT , CM000684.1:g.44324604_44324605insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGT	GRCh37
NC_000022.9:g.42655937_42655938insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGT	NCBI36
NG_008631.1:g.9986_9987insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216180.8:c.421-100_421-99insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGT MANE Select	ENSP00000216180.3:n.421-100_421-99insTTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000216180.7:c.421-100_421-99insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGT	ENSP00000216180.3:n.421-100_421-99insTTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000406117.6:c.*53-100_*53-99insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGT	ENSP00000384668.2:n.*53-100_*53-99insTTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000423180.2:c.409-100_409-99insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGT	ENSP00000397987.2:n.409-100_409-99insTTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000478713.1:n.455-100_455-99insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGT
NM_025225.2:c.421-100_421-99insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGT	NP_079501.2:n.421-100_421-99insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT...
NM_025225.3:c.421-100_421-99insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGT MANE Select	NP_079501.2:n.421-100_421-99insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT...