Canonical Allele Identifier: CA753441754
Gene: PNPLA3 HGNC NCBI

Linked Data

dbSNP Id: rs1192713398
gnomAD v3: 22-43946462-CTGTGTAGTGACCCCTGCCTGT-C
gnomAD v4: 22-43946462-CTGTGTAGTGACCCCTGCCTGT-C
MyVariant Identifiers: chr22:g.44342343_44342363del (hg19) chr22:g.43946463_43946483del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43946463_43946483del , CM000684.2:g.43946463_43946483del GRCh38
NC_000022.10:g.44342343_44342363del , CM000684.1:g.44342343_44342363del GRCh37
NC_000022.9:g.42673676_42673696del NCBI36
NG_008631.1:g.27725_27745del

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.*81_*101del MANE Select ENSP00000216180.3:n.*81_*101del
ENST00000216180.7:c.*81_*101del ENSP00000216180.3:n.*81_*101del
ENST00000406117.6:c.*849+1668_*849+1688del ENSP00000384668.2:n.*849+1668_*849+1688del
ENST00000423180.2:c.*81_*101del ENSP00000397987.2:n.*81_*101del
NM_025225.2:c.*81_*101del NP_079501.2:n.*81_*101del
NM_025225.3:c.*81_*101del MANE Select NP_079501.2:n.*81_*101del
Search 100 bp 5'
Search 100 bp 3'