Canonical Allele Identifier: CA993164281

Gene: PNPLA6

Linked Data

• gnomAD v3: 19-7554934-G-GATA
• gnomAD v4: 19-7554934-G-GATA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7554934_7554935insATA , CM000681.2:g.7554934_7554935insATA	GRCh38
NC_000019.9:g.7619820_7619821insATA , CM000681.1:g.7619820_7619821insATA	GRCh37
NC_000019.8:g.7525820_7525821insATA	NCBI36
NG_013374.1:g.25783_25784insATA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000600737.6:c.2676_2677insATA MANE Select	ENSP00000473211.1:p.Lys892_Gln893insIle
ENST00000221249.10:c.2562_2563insATA	ENSP00000221249.5:p.Lys854_Gln855insIle
ENST00000414982.7:c.2706_2707insATA	ENSP00000407509.2:p.Lys902_Gln903insIle
ENST00000450331.7:c.2562_2563insATA	ENSP00000394348.2:p.Lys854_Gln855insIle
ENST00000545201.6:c.2481_2482insATA	ENSP00000443323.1:p.Lys827_Gln828insIle
ENST00000600737.5:c.2676_2677insATA	ENSP00000473211.1:p.Lys892_Gln893insIle
NM_001166111.1:c.2706_2707insATA	NP_001159583.1:p.Lys902_Gln903insIle
NM_001166112.1:c.2481_2482insATA	NP_001159584.1:p.Lys827_Gln828insIle
NM_001166113.1:c.2562_2563insATA	NP_001159585.1:p.Lys854_Gln855insIle
NM_001166114.1:c.2676_2677insATA	NP_001159586.1:p.Lys892_Gln893insIle
NM_006702.4:c.2562_2563insATA	NP_006693.3:p.Lys854_Gln855insIle
NM_001166111.2:c.2706_2707insATA	NP_001159583.1:p.Lys902_Gln903insIle
NM_001166114.2:c.2676_2677insATA MANE Select	NP_001159586.1:p.Lys892_Gln893insIle
NM_006702.5:c.2562_2563insATA	NP_006693.3:p.Lys854_Gln855insIle
NM_001166112.2:c.2481_2482insATA	NP_001159584.1:p.Lys827_Gln828insIle