Canonical Allele Identifier: CA2813477563

Gene: PNPLA6

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7560847_7560850del , CM000681.2:g.7560847_7560850del	GRCh38
NC_000019.9:g.7625733_7625736del , CM000681.1:g.7625733_7625736del	GRCh37
NC_000019.8:g.7531733_7531736del	NCBI36
NG_013374.1:g.31696_31699del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000600737.6:c.3816+83_3816+86del MANE Select	ENSP00000473211.1:n.3816+83_3816+86del
ENST00000221249.10:c.3702+83_3702+86del	ENSP00000221249.5:n.3702+83_3702+86del
ENST00000414982.7:c.3846+83_3846+86del	ENSP00000407509.2:n.3846+83_3846+86del
ENST00000450331.7:c.3702+83_3702+86del	ENSP00000394348.2:n.3702+83_3702+86del
ENST00000545201.6:c.3621+83_3621+86del	ENSP00000443323.1:n.3621+83_3621+86del
ENST00000597202.1:n.174+83_174+86del
ENST00000599947.1:c.186-167_186-164del
ENST00000600737.5:c.3816+83_3816+86del	ENSP00000473211.1:n.3816+83_3816+86del
NM_001166111.1:c.3846+83_3846+86del	NP_001159583.1:n.3846+83_3846+86del
NM_001166112.1:c.3621+83_3621+86del	NP_001159584.1:n.3621+83_3621+86del
NM_001166113.1:c.3702+83_3702+86del	NP_001159585.1:n.3702+83_3702+86del
NM_001166114.1:c.3816+83_3816+86del	NP_001159586.1:n.3816+83_3816+86del
NM_006702.4:c.3702+83_3702+86del	NP_006693.3:n.3702+83_3702+86del
NM_001166111.2:c.3846+83_3846+86del	NP_001159583.1:n.3846+83_3846+86del
NM_001166114.2:c.3816+83_3816+86del MANE Select	NP_001159586.1:n.3816+83_3816+86del
NM_006702.5:c.3702+83_3702+86del	NP_006693.3:n.3702+83_3702+86del
NM_001166112.2:c.3621+83_3621+86del	NP_001159584.1:n.3621+83_3621+86del