Canonical Allele Identifier: CA9140613

Gene: PNPLA6

Linked Data

• dbSNP Id: rs766851274
• ExAC: 19:7625932 CT / C
• gnomAD v2: 19-7625932-CT-C
• gnomAD v4: 19-7561046-CT-C
• MyVariant Identifiers: chr19:g.7625933del (hg19) ; chr19:g.7561047del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7561048del , CM000681.2:g.7561048del	GRCh38
NC_000019.9:g.7625934del , CM000681.1:g.7625934del	GRCh37
NC_000019.8:g.7531934del	NCBI36
NG_013374.1:g.31897del

Transcript Alleles

HGVS	Amino-acid change
ENST00000600737.6:c.3851del MANE Select	ENSP00000473211.1:p.Leu1284TrpfsTer28
ENST00000221249.10:c.3737del	ENSP00000221249.5:p.Leu1246TrpfsTer28
ENST00000414982.7:c.3881del	ENSP00000407509.2:p.Leu1294TrpfsTer28
ENST00000450331.7:c.3737del	ENSP00000394348.2:p.Leu1246TrpfsTer28
ENST00000545201.6:c.3656del	ENSP00000443323.1:p.Leu1219TrpfsTer28
ENST00000597202.1:n.209del
ENST00000599947.1:c.220del
ENST00000600737.5:c.3851del	ENSP00000473211.1:p.Leu1284TrpfsTer28
NM_001166111.1:c.3881del	NP_001159583.1:p.Leu1294TrpfsTer28
NM_001166112.1:c.3656del	NP_001159584.1:p.Leu1219TrpfsTer28
NM_001166113.1:c.3737del	NP_001159585.1:p.Leu1246TrpfsTer28
NM_001166114.1:c.3851del	NP_001159586.1:p.Leu1284TrpfsTer28
NM_006702.4:c.3737del	NP_006693.3:p.Leu1246TrpfsTer28
NM_001166111.2:c.3881del	NP_001159583.1:p.Leu1294TrpfsTer28
NM_001166114.2:c.3851del MANE Select	NP_001159586.1:p.Leu1284TrpfsTer28
NM_006702.5:c.3737del	NP_006693.3:p.Leu1246TrpfsTer28
NM_001166112.2:c.3656del	NP_001159584.1:p.Leu1219TrpfsTer28