Canonical Allele Identifier: CA2813477465

Gene: PNPLA6

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7560813_7560815del , CM000681.2:g.7560813_7560815del	GRCh38
NC_000019.9:g.7625699_7625701del , CM000681.1:g.7625699_7625701del	GRCh37
NC_000019.8:g.7531699_7531701del	NCBI36
NG_013374.1:g.31662_31664del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000600737.6:c.3816+49_3816+51del MANE Select	ENSP00000473211.1:n.3816+49_3816+51del
ENST00000221249.10:c.3702+49_3702+51del	ENSP00000221249.5:n.3702+49_3702+51del
ENST00000414982.7:c.3846+49_3846+51del	ENSP00000407509.2:n.3846+49_3846+51del
ENST00000450331.7:c.3702+49_3702+51del	ENSP00000394348.2:n.3702+49_3702+51del
ENST00000545201.6:c.3621+49_3621+51del	ENSP00000443323.1:n.3621+49_3621+51del
ENST00000597202.1:n.174+49_174+51del
ENST00000599947.1:c.186-201_186-199del
ENST00000600737.5:c.3816+49_3816+51del	ENSP00000473211.1:n.3816+49_3816+51del
NM_001166111.1:c.3846+49_3846+51del	NP_001159583.1:n.3846+49_3846+51del
NM_001166112.1:c.3621+49_3621+51del	NP_001159584.1:n.3621+49_3621+51del
NM_001166113.1:c.3702+49_3702+51del	NP_001159585.1:n.3702+49_3702+51del
NM_001166114.1:c.3816+49_3816+51del	NP_001159586.1:n.3816+49_3816+51del
NM_006702.4:c.3702+49_3702+51del	NP_006693.3:n.3702+49_3702+51del
NM_001166111.2:c.3846+49_3846+51del	NP_001159583.1:n.3846+49_3846+51del
NM_001166114.2:c.3816+49_3816+51del MANE Select	NP_001159586.1:n.3816+49_3816+51del
NM_006702.5:c.3702+49_3702+51del	NP_006693.3:n.3702+49_3702+51del
NM_001166112.2:c.3621+49_3621+51del	NP_001159584.1:n.3621+49_3621+51del