Canonical Allele Identifier: CA2813477500

Gene: PNPLA6

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7560825_7560828del , CM000681.2:g.7560825_7560828del	GRCh38
NC_000019.9:g.7625711_7625714del , CM000681.1:g.7625711_7625714del	GRCh37
NC_000019.8:g.7531711_7531714del	NCBI36
NG_013374.1:g.31674_31677del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000600737.6:c.3816+61_3816+64del MANE Select	ENSP00000473211.1:n.3816+61_3816+64del
ENST00000221249.10:c.3702+61_3702+64del	ENSP00000221249.5:n.3702+61_3702+64del
ENST00000414982.7:c.3846+61_3846+64del	ENSP00000407509.2:n.3846+61_3846+64del
ENST00000450331.7:c.3702+61_3702+64del	ENSP00000394348.2:n.3702+61_3702+64del
ENST00000545201.6:c.3621+61_3621+64del	ENSP00000443323.1:n.3621+61_3621+64del
ENST00000597202.1:n.174+61_174+64del
ENST00000599947.1:c.186-189_186-186del
ENST00000600737.5:c.3816+61_3816+64del	ENSP00000473211.1:n.3816+61_3816+64del
NM_001166111.1:c.3846+61_3846+64del	NP_001159583.1:n.3846+61_3846+64del
NM_001166112.1:c.3621+61_3621+64del	NP_001159584.1:n.3621+61_3621+64del
NM_001166113.1:c.3702+61_3702+64del	NP_001159585.1:n.3702+61_3702+64del
NM_001166114.1:c.3816+61_3816+64del	NP_001159586.1:n.3816+61_3816+64del
NM_006702.4:c.3702+61_3702+64del	NP_006693.3:n.3702+61_3702+64del
NM_001166111.2:c.3846+61_3846+64del	NP_001159583.1:n.3846+61_3846+64del
NM_001166114.2:c.3816+61_3816+64del MANE Select	NP_001159586.1:n.3816+61_3816+64del
NM_006702.5:c.3702+61_3702+64del	NP_006693.3:n.3702+61_3702+64del
NM_001166112.2:c.3621+61_3621+64del	NP_001159584.1:n.3621+61_3621+64del