Canonical Allele Identifier: CA2813477513

Gene: PNPLA6

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7560831_7560832insA , CM000681.2:g.7560831_7560832insA	GRCh38
NC_000019.9:g.7625717_7625718insA , CM000681.1:g.7625717_7625718insA	GRCh37
NC_000019.8:g.7531717_7531718insA	NCBI36
NG_013374.1:g.31680_31681insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000600737.6:c.3816+67_3816+68insA MANE Select	ENSP00000473211.1:n.3816+67_3816+68insA
ENST00000221249.10:c.3702+67_3702+68insA	ENSP00000221249.5:n.3702+67_3702+68insA
ENST00000414982.7:c.3846+67_3846+68insA	ENSP00000407509.2:n.3846+67_3846+68insA
ENST00000450331.7:c.3702+67_3702+68insA	ENSP00000394348.2:n.3702+67_3702+68insA
ENST00000545201.6:c.3621+67_3621+68insA	ENSP00000443323.1:n.3621+67_3621+68insA
ENST00000597202.1:n.174+67_174+68insA
ENST00000599947.1:c.186-183_186-182insA
ENST00000600737.5:c.3816+67_3816+68insA	ENSP00000473211.1:n.3816+67_3816+68insA
NM_001166111.1:c.3846+67_3846+68insA	NP_001159583.1:n.3846+67_3846+68insA
NM_001166112.1:c.3621+67_3621+68insA	NP_001159584.1:n.3621+67_3621+68insA
NM_001166113.1:c.3702+67_3702+68insA	NP_001159585.1:n.3702+67_3702+68insA
NM_001166114.1:c.3816+67_3816+68insA	NP_001159586.1:n.3816+67_3816+68insA
NM_006702.4:c.3702+67_3702+68insA	NP_006693.3:n.3702+67_3702+68insA
NM_001166111.2:c.3846+67_3846+68insA	NP_001159583.1:n.3846+67_3846+68insA
NM_001166114.2:c.3816+67_3816+68insA MANE Select	NP_001159586.1:n.3816+67_3816+68insA
NM_006702.5:c.3702+67_3702+68insA	NP_006693.3:n.3702+67_3702+68insA
NM_001166112.2:c.3621+67_3621+68insA	NP_001159584.1:n.3621+67_3621+68insA