Canonical Allele Identifier: CA2407489703
Gene: PNPLA3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43946300_43946303delinsACTT , CM000684.2:g.43946300_43946303delinsACTT GRCh38
NC_000022.10:g.44342180_44342183delinsACTT , CM000684.1:g.44342180_44342183delinsACTT GRCh37
NC_000022.9:g.42673513_42673516delinsACTT NCBI36
NG_008631.1:g.27562_27565delinsACTT

Transcript Alleles

HGVS Amino-acid change
ENST00000216180.8:c.1364_1367delinsACTT MANE Select ENSP00000216180.3:p.Asn455=
ENST00000216180.7:c.1364_1367delinsACTT ENSP00000216180.3:p.Asn455=
ENST00000406117.6:c.*849+1505_*849+1508delinsACTT ENSP00000384668.2:n.*849+1505_*849+1508delinsACTT
ENST00000423180.2:c.1352_1355delinsACTT ENSP00000397987.2:p.Asn451=
NM_025225.2:c.1364_1367delinsACTT NP_079501.2:p.Asn455=
NM_025225.3:c.1364_1367delinsACTT MANE Select NP_079501.2:p.Asn455=
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