Canonical Allele Identifier: CA2813477445

Gene: PNPLA6

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7560788_7560789insA , CM000681.2:g.7560788_7560789insA	GRCh38
NC_000019.9:g.7625674_7625675insA , CM000681.1:g.7625674_7625675insA	GRCh37
NC_000019.8:g.7531674_7531675insA	NCBI36
NG_013374.1:g.31637_31638insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000600737.6:c.3816+24_3816+25insA MANE Select	ENSP00000473211.1:n.3816+24_3816+25insA
ENST00000221249.10:c.3702+24_3702+25insA	ENSP00000221249.5:n.3702+24_3702+25insA
ENST00000414982.7:c.3846+24_3846+25insA	ENSP00000407509.2:n.3846+24_3846+25insA
ENST00000450331.7:c.3702+24_3702+25insA	ENSP00000394348.2:n.3702+24_3702+25insA
ENST00000545201.6:c.3621+24_3621+25insA	ENSP00000443323.1:n.3621+24_3621+25insA
ENST00000597202.1:n.174+24_174+25insA
ENST00000599947.1:c.186-226_186-225insA
ENST00000600737.5:c.3816+24_3816+25insA	ENSP00000473211.1:n.3816+24_3816+25insA
NM_001166111.1:c.3846+24_3846+25insA	NP_001159583.1:n.3846+24_3846+25insA
NM_001166112.1:c.3621+24_3621+25insA	NP_001159584.1:n.3621+24_3621+25insA
NM_001166113.1:c.3702+24_3702+25insA	NP_001159585.1:n.3702+24_3702+25insA
NM_001166114.1:c.3816+24_3816+25insA	NP_001159586.1:n.3816+24_3816+25insA
NM_006702.4:c.3702+24_3702+25insA	NP_006693.3:n.3702+24_3702+25insA
NM_001166111.2:c.3846+24_3846+25insA	NP_001159583.1:n.3846+24_3846+25insA
NM_001166114.2:c.3816+24_3816+25insA MANE Select	NP_001159586.1:n.3816+24_3816+25insA
NM_006702.5:c.3702+24_3702+25insA	NP_006693.3:n.3702+24_3702+25insA
NM_001166112.2:c.3621+24_3621+25insA	NP_001159584.1:n.3621+24_3621+25insA