Canonical Allele Identifier: CA2813477590

Gene: PNPLA6

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7560874_7560875insAT , CM000681.2:g.7560874_7560875insAT	GRCh38
NC_000019.9:g.7625760_7625761insAT , CM000681.1:g.7625760_7625761insAT	GRCh37
NC_000019.8:g.7531760_7531761insAT	NCBI36
NG_013374.1:g.31723_31724insAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000600737.6:c.3816+110_3816+111insAT MANE Select	ENSP00000473211.1:n.3816+110_3816+111insAT
ENST00000221249.10:c.3702+110_3702+111insAT	ENSP00000221249.5:n.3702+110_3702+111insAT
ENST00000414982.7:c.3846+110_3846+111insAT	ENSP00000407509.2:n.3846+110_3846+111insAT
ENST00000450331.7:c.3702+110_3702+111insAT	ENSP00000394348.2:n.3702+110_3702+111insAT
ENST00000545201.6:c.3621+110_3621+111insAT	ENSP00000443323.1:n.3621+110_3621+111insAT
ENST00000597202.1:n.174+110_174+111insAT
ENST00000599947.1:c.186-140_186-139insAT
ENST00000600737.5:c.3816+110_3816+111insAT	ENSP00000473211.1:n.3816+110_3816+111insAT
NM_001166111.1:c.3846+110_3846+111insAT	NP_001159583.1:n.3846+110_3846+111insAT
NM_001166112.1:c.3621+110_3621+111insAT	NP_001159584.1:n.3621+110_3621+111insAT
NM_001166113.1:c.3702+110_3702+111insAT	NP_001159585.1:n.3702+110_3702+111insAT
NM_001166114.1:c.3816+110_3816+111insAT	NP_001159586.1:n.3816+110_3816+111insAT
NM_006702.4:c.3702+110_3702+111insAT	NP_006693.3:n.3702+110_3702+111insAT
NM_001166111.2:c.3846+110_3846+111insAT	NP_001159583.1:n.3846+110_3846+111insAT
NM_001166114.2:c.3816+110_3816+111insAT MANE Select	NP_001159586.1:n.3816+110_3816+111insAT
NM_006702.5:c.3702+110_3702+111insAT	NP_006693.3:n.3702+110_3702+111insAT
NM_001166112.2:c.3621+110_3621+111insAT	NP_001159584.1:n.3621+110_3621+111insAT