Canonical Allele Identifier: CA2587958334

Gene: PNPLA6

Linked Data

• gnomAD v4: 19-7560950-GCCCCCCAGGGGCCCCAAGACTCTGTGGGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7560957_7560985del , CM000681.2:g.7560957_7560985del	GRCh38
NC_000019.9:g.7625843_7625871del , CM000681.1:g.7625843_7625871del	GRCh37
NC_000019.8:g.7531843_7531871del	NCBI36
NG_013374.1:g.31806_31834del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000600737.6:c.3817-57_3817-29del MANE Select	ENSP00000473211.1:n.3817-57_3817-29del
ENST00000221249.10:c.3703-57_3703-29del	ENSP00000221249.5:n.3703-57_3703-29del
ENST00000414982.7:c.3847-57_3847-29del	ENSP00000407509.2:n.3847-57_3847-29del
ENST00000450331.7:c.3703-57_3703-29del	ENSP00000394348.2:n.3703-57_3703-29del
ENST00000545201.6:c.3622-57_3622-29del	ENSP00000443323.1:n.3622-57_3622-29del
ENST00000597202.1:n.175-57_175-29del
ENST00000599947.1:c.186-57_186-29del
ENST00000600737.5:c.3817-57_3817-29del	ENSP00000473211.1:n.3817-57_3817-29del
NM_001166111.1:c.3847-57_3847-29del	NP_001159583.1:n.3847-57_3847-29del
NM_001166112.1:c.3622-57_3622-29del	NP_001159584.1:n.3622-57_3622-29del
NM_001166113.1:c.3703-57_3703-29del	NP_001159585.1:n.3703-57_3703-29del
NM_001166114.1:c.3817-57_3817-29del	NP_001159586.1:n.3817-57_3817-29del
NM_006702.4:c.3703-57_3703-29del	NP_006693.3:n.3703-57_3703-29del
NM_001166111.2:c.3847-57_3847-29del	NP_001159583.1:n.3847-57_3847-29del
NM_001166114.2:c.3817-57_3817-29del MANE Select	NP_001159586.1:n.3817-57_3817-29del
NM_006702.5:c.3703-57_3703-29del	NP_006693.3:n.3703-57_3703-29del
NM_001166112.2:c.3622-57_3622-29del	NP_001159584.1:n.3622-57_3622-29del