Canonical Allele Identifier: CA16616452
Gene: PNPLA6 HGNC NCBI

Linked Data

ClinVar Variation Id: 409950
ClinVar RCV Id: RCV000462018
dbSNP Id: rs1060502664
MyVariant Identifiers: chr19:g.7626105del (hg19) chr19:g.7561219del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7561219del , CM000681.2:g.7561219del GRCh38
NC_000019.9:g.7626105del , CM000681.1:g.7626105del GRCh37
NC_000019.8:g.7532105del NCBI36
NG_013374.1:g.32068del

Transcript Alleles

HGVS Amino-acid change
ENST00000600737.6:c.3925del MANE Select ENSP00000473211.1:p.Asp1309IlefsTer3
ENST00000221249.10:c.3811del ENSP00000221249.5:p.Asp1271IlefsTer3
ENST00000414982.7:c.3955del ENSP00000407509.2:p.Asp1319IlefsTer3
ENST00000450331.7:c.3811del ENSP00000394348.2:p.Asp1271IlefsTer3
ENST00000545201.6:c.3730del ENSP00000443323.1:p.Asp1244IlefsTer3
ENST00000597202.1:n.283del
ENST00000599947.1:c.294del
ENST00000600737.5:c.3925del ENSP00000473211.1:p.Asp1309IlefsTer3
NM_001166111.1:c.3955del NP_001159583.1:p.Asp1319IlefsTer3
NM_001166112.1:c.3730del NP_001159584.1:p.Asp1244IlefsTer3
NM_001166113.1:c.3811del NP_001159585.1:p.Asp1271IlefsTer3
NM_001166114.1:c.3925del NP_001159586.1:p.Asp1309IlefsTer3
NM_006702.4:c.3811del NP_006693.3:p.Asp1271IlefsTer3
NM_001166111.2:c.3955del NP_001159583.1:p.Asp1319IlefsTer3
NM_001166114.2:c.3925del MANE Select NP_001159586.1:p.Asp1309IlefsTer3
NM_006702.5:c.3811del NP_006693.3:p.Asp1271IlefsTer3
NM_001166112.2:c.3730del NP_001159584.1:p.Asp1244IlefsTer3
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