Canonical Allele Identifier: CA2813477576

Gene: PNPLA6

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7560854_7560855insAACACACCCAA , CM000681.2:g.7560854_7560855insAACACACCCAA	GRCh38
NC_000019.9:g.7625740_7625741insAACACACCCAA , CM000681.1:g.7625740_7625741insAACACACCCAA	GRCh37
NC_000019.8:g.7531740_7531741insAACACACCCAA	NCBI36
NG_013374.1:g.31703_31704insAACACACCCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000600737.6:c.3816+90_3816+91insAACACACCCAA MANE Select	ENSP00000473211.1:n.3816+90_3816+91insAACACACCCAA
ENST00000221249.10:c.3702+90_3702+91insAACACACCCAA	ENSP00000221249.5:n.3702+90_3702+91insAACACACCCAA
ENST00000414982.7:c.3846+90_3846+91insAACACACCCAA	ENSP00000407509.2:n.3846+90_3846+91insAACACACCCAA
ENST00000450331.7:c.3702+90_3702+91insAACACACCCAA	ENSP00000394348.2:n.3702+90_3702+91insAACACACCCAA
ENST00000545201.6:c.3621+90_3621+91insAACACACCCAA	ENSP00000443323.1:n.3621+90_3621+91insAACACACCCAA
ENST00000597202.1:n.174+90_174+91insAACACACCCAA
ENST00000599947.1:c.186-160_186-159insAACACACCCAA
ENST00000600737.5:c.3816+90_3816+91insAACACACCCAA	ENSP00000473211.1:n.3816+90_3816+91insAACACACCCAA
NM_001166111.1:c.3846+90_3846+91insAACACACCCAA	NP_001159583.1:n.3846+90_3846+91insAACACACCCAA
NM_001166112.1:c.3621+90_3621+91insAACACACCCAA	NP_001159584.1:n.3621+90_3621+91insAACACACCCAA
NM_001166113.1:c.3702+90_3702+91insAACACACCCAA	NP_001159585.1:n.3702+90_3702+91insAACACACCCAA
NM_001166114.1:c.3816+90_3816+91insAACACACCCAA	NP_001159586.1:n.3816+90_3816+91insAACACACCCAA
NM_006702.4:c.3702+90_3702+91insAACACACCCAA	NP_006693.3:n.3702+90_3702+91insAACACACCCAA
NM_001166111.2:c.3846+90_3846+91insAACACACCCAA	NP_001159583.1:n.3846+90_3846+91insAACACACCCAA
NM_001166114.2:c.3816+90_3816+91insAACACACCCAA MANE Select	NP_001159586.1:n.3816+90_3816+91insAACACACCCAA
NM_006702.5:c.3702+90_3702+91insAACACACCCAA	NP_006693.3:n.3702+90_3702+91insAACACACCCAA
NM_001166112.2:c.3621+90_3621+91insAACACACCCAA	NP_001159584.1:n.3621+90_3621+91insAACACACCCAA