Canonical Allele Identifier: CA2320979402

Gene: PNPLA6

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7560845_7560847delinsCAG , CM000681.2:g.7560845_7560847delinsCAG	GRCh38
NC_000019.9:g.7625731_7625733delinsCAG , CM000681.1:g.7625731_7625733delinsCAG	GRCh37
NC_000019.8:g.7531731_7531733delinsCAG	NCBI36
NG_013374.1:g.31694_31696delinsCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000600737.6:c.3816+81_3816+83delinsCAG MANE Select	ENSP00000473211.1:n.3816+81_3816+83delinsCAG
ENST00000221249.10:c.3702+81_3702+83delinsCAG	ENSP00000221249.5:n.3702+81_3702+83delinsCAG
ENST00000414982.7:c.3846+81_3846+83delinsCAG	ENSP00000407509.2:n.3846+81_3846+83delinsCAG
ENST00000450331.7:c.3702+81_3702+83delinsCAG	ENSP00000394348.2:n.3702+81_3702+83delinsCAG
ENST00000545201.6:c.3621+81_3621+83delinsCAG	ENSP00000443323.1:n.3621+81_3621+83delinsCAG
ENST00000597202.1:n.174+81_174+83delinsCAG
ENST00000599947.1:c.186-169_186-167delinsCAG
ENST00000600737.5:c.3816+81_3816+83delinsCAG	ENSP00000473211.1:n.3816+81_3816+83delinsCAG
NM_001166111.1:c.3846+81_3846+83delinsCAG	NP_001159583.1:n.3846+81_3846+83delinsCAG
NM_001166112.1:c.3621+81_3621+83delinsCAG	NP_001159584.1:n.3621+81_3621+83delinsCAG
NM_001166113.1:c.3702+81_3702+83delinsCAG	NP_001159585.1:n.3702+81_3702+83delinsCAG
NM_001166114.1:c.3816+81_3816+83delinsCAG	NP_001159586.1:n.3816+81_3816+83delinsCAG
NM_006702.4:c.3702+81_3702+83delinsCAG	NP_006693.3:n.3702+81_3702+83delinsCAG
NM_001166111.2:c.3846+81_3846+83delinsCAG	NP_001159583.1:n.3846+81_3846+83delinsCAG
NM_001166114.2:c.3816+81_3816+83delinsCAG MANE Select	NP_001159586.1:n.3816+81_3816+83delinsCAG
NM_006702.5:c.3702+81_3702+83delinsCAG	NP_006693.3:n.3702+81_3702+83delinsCAG
NM_001166112.2:c.3621+81_3621+83delinsCAG	NP_001159584.1:n.3621+81_3621+83delinsCAG