Canonical Allele Identifier: CA16043123
Gene: PNPLA6 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 372969
ClinVar RCV Id: RCV000413299
dbSNP Id: rs1057518107

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7561047_7561048del , CM000681.2:g.7561047_7561048del GRCh38
NC_000019.9:g.7625933_7625934del , CM000681.1:g.7625933_7625934del GRCh37
NC_000019.8:g.7531933_7531934del NCBI36
NG_013374.1:g.31896_31897del

Transcript Alleles

HGVS Amino-acid change
NM_001166111.1:c.3880_3881del VV NP_001159583.1:p.Leu1294GlyfsTer8
NM_001166112.1:c.3655_3656del VV NP_001159584.1:p.Leu1219GlyfsTer8
NM_001166113.1:c.3736_3737del VV NP_001159585.1:p.Leu1246GlyfsTer8
NM_001166114.1:c.3850_3851del VV NP_001159586.1:p.Leu1284GlyfsTer8
NM_006702.4:c.3736_3737del VV NP_006693.3:p.Leu1246GlyfsTer8
ENST00000221249.10:c.3736_3737del ENSP00000221249.5:p.Leu1246GlyfsTer8
ENST00000414982.7:c.3880_3881del ENSP00000407509.2:p.Leu1294GlyfsTer8
ENST00000450331.7:c.3736_3737del ENSP00000394348.2:p.Leu1246GlyfsTer8
ENST00000545201.6:c.3655_3656del ENSP00000443323.1:p.Leu1219GlyfsTer8
ENST00000597202.1:n.208_209del
ENST00000599947.1:n.219_220del
ENST00000600737.5:c.3850_3851del ENSP00000473211.1:p.Leu1284GlyfsTer8