Canonical Allele Identifier: CA2813477485

Gene: PNPLA6

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7560821_7560822insACA , CM000681.2:g.7560821_7560822insACA	GRCh38
NC_000019.9:g.7625707_7625708insACA , CM000681.1:g.7625707_7625708insACA	GRCh37
NC_000019.8:g.7531707_7531708insACA	NCBI36
NG_013374.1:g.31670_31671insACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000600737.6:c.3816+57_3816+58insACA MANE Select	ENSP00000473211.1:n.3816+57_3816+58insACA
ENST00000221249.10:c.3702+57_3702+58insACA	ENSP00000221249.5:n.3702+57_3702+58insACA
ENST00000414982.7:c.3846+57_3846+58insACA	ENSP00000407509.2:n.3846+57_3846+58insACA
ENST00000450331.7:c.3702+57_3702+58insACA	ENSP00000394348.2:n.3702+57_3702+58insACA
ENST00000545201.6:c.3621+57_3621+58insACA	ENSP00000443323.1:n.3621+57_3621+58insACA
ENST00000597202.1:n.174+57_174+58insACA
ENST00000599947.1:c.186-193_186-192insACA
ENST00000600737.5:c.3816+57_3816+58insACA	ENSP00000473211.1:n.3816+57_3816+58insACA
NM_001166111.1:c.3846+57_3846+58insACA	NP_001159583.1:n.3846+57_3846+58insACA
NM_001166112.1:c.3621+57_3621+58insACA	NP_001159584.1:n.3621+57_3621+58insACA
NM_001166113.1:c.3702+57_3702+58insACA	NP_001159585.1:n.3702+57_3702+58insACA
NM_001166114.1:c.3816+57_3816+58insACA	NP_001159586.1:n.3816+57_3816+58insACA
NM_006702.4:c.3702+57_3702+58insACA	NP_006693.3:n.3702+57_3702+58insACA
NM_001166111.2:c.3846+57_3846+58insACA	NP_001159583.1:n.3846+57_3846+58insACA
NM_001166114.2:c.3816+57_3816+58insACA MANE Select	NP_001159586.1:n.3816+57_3816+58insACA
NM_006702.5:c.3702+57_3702+58insACA	NP_006693.3:n.3702+57_3702+58insACA
NM_001166112.2:c.3621+57_3621+58insACA	NP_001159584.1:n.3621+57_3621+58insACA