Canonical Allele Identifier: CA2657154795
Gene: PNPLA3 HGNC NCBI

Linked Data

gnomAD v4: 22-43946355-C-CACTAGAGAAG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43946356_43946357insCTAGAGAAGA , CM000684.2:g.43946356_43946357insCTAGAGAAGA GRCh38
NC_000022.10:g.44342236_44342237insCTAGAGAAGA , CM000684.1:g.44342236_44342237insCTAGAGAAGA GRCh37
NC_000022.9:g.42673569_42673570insCTAGAGAAGA NCBI36
NG_008631.1:g.27618_27619insCTAGAGAAGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.1420_1421insCTAGAGAAGA MANE Select ENSP00000216180.3:p.Ser474ThrfsTer20
ENST00000216180.7:c.1420_1421insCTAGAGAAGA ENSP00000216180.3:p.Ser474ThrfsTer20
ENST00000406117.6:c.*849+1561_*849+1562insCTAGAGAAGA ENSP00000384668.2:n.*849+1561_*849+1562insCTAGAGAAGA
ENST00000423180.2:c.1408_1409insCTAGAGAAGA ENSP00000397987.2:p.Ser470ThrfsTer20
NM_025225.2:c.1420_1421insCTAGAGAAGA NP_079501.2:p.Ser474ThrfsTer20
NM_025225.3:c.1420_1421insCTAGAGAAGA MANE Select NP_079501.2:p.Ser474ThrfsTer20
Search 100 bp 5'
Search 100 bp 3'