Canonical Allele Identifier: CA639830743
Gene: PNPLA3 HGNC NCBI

Linked Data

dbSNP Id: rs1278344005
gnomAD v2: 22-44342061-G-GTGAGCA
gnomAD v4: 22-43946181-G-GTGAGCA
MyVariant Identifiers: chr22:g.44342061_44342062insTGAGCA (hg19) chr22:g.43946181_43946182insTGAGCA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43946181_43946182insTGAGCA , CM000684.2:g.43946181_43946182insTGAGCA GRCh38
NC_000022.10:g.44342061_44342062insTGAGCA , CM000684.1:g.44342061_44342062insTGAGCA GRCh37
NC_000022.9:g.42673394_42673395insTGAGCA NCBI36
NG_008631.1:g.27443_27444insTGAGCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.1245_1246insTGAGCA
ENST00000216180.7:c.1245_1246insTGAGCA
ENST00000406117.6:c.*849+1386_*849+1387insTGAGCA ENSP00000384668.2:n.*849+1386_*849+1387insTGAGCA
ENST00000423180.2:c.1233_1234insTGAGCA
NM_025225.2:c.1245_1246insTGAGCA
NM_025225.3:c.1245_1246insTGAGCA
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