Canonical Allele Identifier: CA2813477589
Gene: PNPLA6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7560874del , CM000681.2:g.7560874del GRCh38
NC_000019.9:g.7625760del , CM000681.1:g.7625760del GRCh37
NC_000019.8:g.7531760del NCBI36
NG_013374.1:g.31723del

Transcript Alleles

HGVS Amino-acid Change
ENST00000600737.6:c.3816+110del MANE Select ENSP00000473211.1:n.3816+110del
ENST00000221249.10:c.3702+110del ENSP00000221249.5:n.3702+110del
ENST00000414982.7:c.3846+110del ENSP00000407509.2:n.3846+110del
ENST00000450331.7:c.3702+110del ENSP00000394348.2:n.3702+110del
ENST00000545201.6:c.3621+110del ENSP00000443323.1:n.3621+110del
ENST00000597202.1:n.174+110del
ENST00000599947.1:c.186-140del
ENST00000600737.5:c.3816+110del ENSP00000473211.1:n.3816+110del
NM_001166111.1:c.3846+110del NP_001159583.1:n.3846+110del
NM_001166112.1:c.3621+110del NP_001159584.1:n.3621+110del
NM_001166113.1:c.3702+110del NP_001159585.1:n.3702+110del
NM_001166114.1:c.3816+110del NP_001159586.1:n.3816+110del
NM_006702.4:c.3702+110del NP_006693.3:n.3702+110del
NM_001166111.2:c.3846+110del NP_001159583.1:n.3846+110del
NM_001166114.2:c.3816+110del MANE Select NP_001159586.1:n.3816+110del
NM_006702.5:c.3702+110del NP_006693.3:n.3702+110del
NM_001166112.2:c.3621+110del NP_001159584.1:n.3621+110del