Canonical Allele Identifier: CA2813477553

Gene: PNPLA6

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7560842_7560843insACACCCAA , CM000681.2:g.7560842_7560843insACACCCAA	GRCh38
NC_000019.9:g.7625728_7625729insACACCCAA , CM000681.1:g.7625728_7625729insACACCCAA	GRCh37
NC_000019.8:g.7531728_7531729insACACCCAA	NCBI36
NG_013374.1:g.31691_31692insACACCCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000600737.6:c.3816+78_3816+79insACACCCAA MANE Select	ENSP00000473211.1:n.3816+78_3816+79insACACCCAA
ENST00000221249.10:c.3702+78_3702+79insACACCCAA	ENSP00000221249.5:n.3702+78_3702+79insACACCCAA
ENST00000414982.7:c.3846+78_3846+79insACACCCAA	ENSP00000407509.2:n.3846+78_3846+79insACACCCAA
ENST00000450331.7:c.3702+78_3702+79insACACCCAA	ENSP00000394348.2:n.3702+78_3702+79insACACCCAA
ENST00000545201.6:c.3621+78_3621+79insACACCCAA	ENSP00000443323.1:n.3621+78_3621+79insACACCCAA
ENST00000597202.1:n.174+78_174+79insACACCCAA
ENST00000599947.1:c.186-172_186-171insACACCCAA
ENST00000600737.5:c.3816+78_3816+79insACACCCAA	ENSP00000473211.1:n.3816+78_3816+79insACACCCAA
NM_001166111.1:c.3846+78_3846+79insACACCCAA	NP_001159583.1:n.3846+78_3846+79insACACCCAA
NM_001166112.1:c.3621+78_3621+79insACACCCAA	NP_001159584.1:n.3621+78_3621+79insACACCCAA
NM_001166113.1:c.3702+78_3702+79insACACCCAA	NP_001159585.1:n.3702+78_3702+79insACACCCAA
NM_001166114.1:c.3816+78_3816+79insACACCCAA	NP_001159586.1:n.3816+78_3816+79insACACCCAA
NM_006702.4:c.3702+78_3702+79insACACCCAA	NP_006693.3:n.3702+78_3702+79insACACCCAA
NM_001166111.2:c.3846+78_3846+79insACACCCAA	NP_001159583.1:n.3846+78_3846+79insACACCCAA
NM_001166114.2:c.3816+78_3816+79insACACCCAA MANE Select	NP_001159586.1:n.3816+78_3816+79insACACCCAA
NM_006702.5:c.3702+78_3702+79insACACCCAA	NP_006693.3:n.3702+78_3702+79insACACCCAA
NM_001166112.2:c.3621+78_3621+79insACACCCAA	NP_001159584.1:n.3621+78_3621+79insACACCCAA