Canonical Allele Identifier: CA118372
Gene: PNPLA6 HGNC NCBI

Linked Data

ClinVar Variation Id: 6607
ClinVar RCV Id: RCV000006986 RCV000162350 RCV000162351 RCV000627436 RCV000779272 RCV001266496 RCV001559126 RCV001847592 RCV002476938
dbSNP Id: rs606231167
ExAC: 19:7620610 C / CGCCA
gnomAD v2: 19-7620610-C-CGCCA
gnomAD v3: 19-7555724-C-CGCCA
gnomAD v4: 19-7555724-C-CGCCA
MyVariant Identifiers: chr19:g.7620614_7620617dupAGCC (hg19) chr19:g.7620610_7620611insGCCA (hg19) chr19:g.7555728_7555731dupAGCC (hg38) chr19:g.7555724_7555725insGCCA (hg38)
PubMed: PMID:18313024
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7555728_7555731dup , CM000681.2:g.7555728_7555731dup GRCh38
NC_000019.9:g.7620614_7620617dup , CM000681.1:g.7620614_7620617dup GRCh37
NC_000019.8:g.7526614_7526617dup NCBI36
NG_013374.1:g.26577_26580dup

Transcript Alleles

HGVS Amino-acid change
ENST00000600737.6:c.3058_3061dup MANE Select ENSP00000473211.1:p.Arg1021GlnfsTer?
ENST00000646984.1:c.229_232dup ENSP00000496219.1:p.Arg78GlnfsTer?
ENST00000221249.10:c.2944_2947dup ENSP00000221249.5:p.Arg983GlnfsTer?
ENST00000414982.7:c.3088_3091dup ENSP00000407509.2:p.Arg1031GlnfsTer?
ENST00000450331.7:c.2944_2947dup ENSP00000394348.2:p.Arg983GlnfsTer?
ENST00000545201.6:c.2863_2866dup ENSP00000443323.1:p.Arg956GlnfsTer?
ENST00000600737.5:c.3058_3061dup ENSP00000473211.1:p.Arg1021GlnfsTer?
NM_001166111.1:c.3088_3091dup NP_001159583.1:p.Arg1031GlnfsTer?
NM_001166112.1:c.2863_2866dup NP_001159584.1:p.Arg956GlnfsTer?
NM_001166113.1:c.2944_2947dup NP_001159585.1:p.Arg983GlnfsTer?
NM_001166114.1:c.3058_3061dup NP_001159586.1:p.Arg1021GlnfsTer?
NM_006702.4:c.2944_2947dup NP_006693.3:p.Arg983GlnfsTer?
NM_001166111.2:c.3088_3091dup NP_001159583.1:p.Arg1031GlnfsTer?
NM_001166114.2:c.3058_3061dup MANE Select NP_001159586.1:p.Arg1021GlnfsTer?
NM_006702.5:c.2944_2947dup NP_006693.3:p.Arg983GlnfsTer?
NM_001166112.2:c.2863_2866dup NP_001159584.1:p.Arg956GlnfsTer?
Search 100 bp 5'
Search 100 bp 3'