Canonical Allele Identifier: CA2587958281

Gene: PNPLA6

Linked Data

• gnomAD v4: 19-7560892-G-GCAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7560893_7560894insAAAAC , CM000681.2:g.7560893_7560894insAAAAC	GRCh38
NC_000019.9:g.7625779_7625780insAAAAC , CM000681.1:g.7625779_7625780insAAAAC	GRCh37
NC_000019.8:g.7531779_7531780insAAAAC	NCBI36
NG_013374.1:g.31742_31743insAAAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000600737.6:c.3817-121_3817-120insAAAAC MANE Select	ENSP00000473211.1:n.3817-121_3817-120insAAAAC
ENST00000221249.10:c.3703-121_3703-120insAAAAC	ENSP00000221249.5:n.3703-121_3703-120insAAAAC
ENST00000414982.7:c.3847-121_3847-120insAAAAC	ENSP00000407509.2:n.3847-121_3847-120insAAAAC
ENST00000450331.7:c.3703-121_3703-120insAAAAC	ENSP00000394348.2:n.3703-121_3703-120insAAAAC
ENST00000545201.6:c.3622-121_3622-120insAAAAC	ENSP00000443323.1:n.3622-121_3622-120insAAAAC
ENST00000597202.1:n.175-121_175-120insAAAAC
ENST00000599947.1:c.186-121_186-120insAAAAC
ENST00000600737.5:c.3817-121_3817-120insAAAAC	ENSP00000473211.1:n.3817-121_3817-120insAAAAC
NM_001166111.1:c.3847-121_3847-120insAAAAC	NP_001159583.1:n.3847-121_3847-120insAAAAC
NM_001166112.1:c.3622-121_3622-120insAAAAC	NP_001159584.1:n.3622-121_3622-120insAAAAC
NM_001166113.1:c.3703-121_3703-120insAAAAC	NP_001159585.1:n.3703-121_3703-120insAAAAC
NM_001166114.1:c.3817-121_3817-120insAAAAC	NP_001159586.1:n.3817-121_3817-120insAAAAC
NM_006702.4:c.3703-121_3703-120insAAAAC	NP_006693.3:n.3703-121_3703-120insAAAAC
NM_001166111.2:c.3847-121_3847-120insAAAAC	NP_001159583.1:n.3847-121_3847-120insAAAAC
NM_001166114.2:c.3817-121_3817-120insAAAAC MANE Select	NP_001159586.1:n.3817-121_3817-120insAAAAC
NM_006702.5:c.3703-121_3703-120insAAAAC	NP_006693.3:n.3703-121_3703-120insAAAAC
NM_001166112.2:c.3622-121_3622-120insAAAAC	NP_001159584.1:n.3622-121_3622-120insAAAAC