Canonical Allele Identifier: CA2813477584

Gene: PNPLA6

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7560869_7560870insAGA , CM000681.2:g.7560869_7560870insAGA	GRCh38
NC_000019.9:g.7625755_7625756insAGA , CM000681.1:g.7625755_7625756insAGA	GRCh37
NC_000019.8:g.7531755_7531756insAGA	NCBI36
NG_013374.1:g.31718_31719insAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000600737.6:c.3816+105_3816+106insAGA MANE Select	ENSP00000473211.1:n.3816+105_3816+106insAGA
ENST00000221249.10:c.3702+105_3702+106insAGA	ENSP00000221249.5:n.3702+105_3702+106insAGA
ENST00000414982.7:c.3846+105_3846+106insAGA	ENSP00000407509.2:n.3846+105_3846+106insAGA
ENST00000450331.7:c.3702+105_3702+106insAGA	ENSP00000394348.2:n.3702+105_3702+106insAGA
ENST00000545201.6:c.3621+105_3621+106insAGA	ENSP00000443323.1:n.3621+105_3621+106insAGA
ENST00000597202.1:n.174+105_174+106insAGA
ENST00000599947.1:c.186-145_186-144insAGA
ENST00000600737.5:c.3816+105_3816+106insAGA	ENSP00000473211.1:n.3816+105_3816+106insAGA
NM_001166111.1:c.3846+105_3846+106insAGA	NP_001159583.1:n.3846+105_3846+106insAGA
NM_001166112.1:c.3621+105_3621+106insAGA	NP_001159584.1:n.3621+105_3621+106insAGA
NM_001166113.1:c.3702+105_3702+106insAGA	NP_001159585.1:n.3702+105_3702+106insAGA
NM_001166114.1:c.3816+105_3816+106insAGA	NP_001159586.1:n.3816+105_3816+106insAGA
NM_006702.4:c.3702+105_3702+106insAGA	NP_006693.3:n.3702+105_3702+106insAGA
NM_001166111.2:c.3846+105_3846+106insAGA	NP_001159583.1:n.3846+105_3846+106insAGA
NM_001166114.2:c.3816+105_3816+106insAGA MANE Select	NP_001159586.1:n.3816+105_3816+106insAGA
NM_006702.5:c.3702+105_3702+106insAGA	NP_006693.3:n.3702+105_3702+106insAGA
NM_001166112.2:c.3621+105_3621+106insAGA	NP_001159584.1:n.3621+105_3621+106insAGA