Canonical Allele Identifier: CA2587958182
Gene: PNPLA6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7560648del , CM000681.2:g.7560648del GRCh38
NC_000019.9:g.7625534del , CM000681.1:g.7625534del GRCh37
NC_000019.8:g.7531534del NCBI36
NG_013374.1:g.31497del

Transcript Alleles

HGVS Amino-acid Change
ENST00000600737.6:c.3700del
ENST00000221249.10:c.3586del
ENST00000414982.7:c.3730del
ENST00000450331.7:c.3586del
ENST00000545201.6:c.3505del
ENST00000597202.1:n.58del
ENST00000599947.1:c.186-366del
ENST00000600737.5:c.3700del
NM_001166111.1:c.3730del
NM_001166112.1:c.3505del
NM_001166113.1:c.3586del
NM_001166114.1:c.3700del
NM_006702.4:c.3586del
NM_001166111.2:c.3730del
NM_001166114.2:c.3700del
NM_006702.5:c.3586del
NM_001166112.2:c.3505del