Canonical Allele Identifier: CA2813477583

Gene: PNPLA6

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7560867_7560868insAGA , CM000681.2:g.7560867_7560868insAGA	GRCh38
NC_000019.9:g.7625753_7625754insAGA , CM000681.1:g.7625753_7625754insAGA	GRCh37
NC_000019.8:g.7531753_7531754insAGA	NCBI36
NG_013374.1:g.31716_31717insAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000600737.6:c.3816+103_3816+104insAGA MANE Select	ENSP00000473211.1:n.3816+103_3816+104insAGA
ENST00000221249.10:c.3702+103_3702+104insAGA	ENSP00000221249.5:n.3702+103_3702+104insAGA
ENST00000414982.7:c.3846+103_3846+104insAGA	ENSP00000407509.2:n.3846+103_3846+104insAGA
ENST00000450331.7:c.3702+103_3702+104insAGA	ENSP00000394348.2:n.3702+103_3702+104insAGA
ENST00000545201.6:c.3621+103_3621+104insAGA	ENSP00000443323.1:n.3621+103_3621+104insAGA
ENST00000597202.1:n.174+103_174+104insAGA
ENST00000599947.1:c.186-147_186-146insAGA
ENST00000600737.5:c.3816+103_3816+104insAGA	ENSP00000473211.1:n.3816+103_3816+104insAGA
NM_001166111.1:c.3846+103_3846+104insAGA	NP_001159583.1:n.3846+103_3846+104insAGA
NM_001166112.1:c.3621+103_3621+104insAGA	NP_001159584.1:n.3621+103_3621+104insAGA
NM_001166113.1:c.3702+103_3702+104insAGA	NP_001159585.1:n.3702+103_3702+104insAGA
NM_001166114.1:c.3816+103_3816+104insAGA	NP_001159586.1:n.3816+103_3816+104insAGA
NM_006702.4:c.3702+103_3702+104insAGA	NP_006693.3:n.3702+103_3702+104insAGA
NM_001166111.2:c.3846+103_3846+104insAGA	NP_001159583.1:n.3846+103_3846+104insAGA
NM_001166114.2:c.3816+103_3816+104insAGA MANE Select	NP_001159586.1:n.3816+103_3816+104insAGA
NM_006702.5:c.3702+103_3702+104insAGA	NP_006693.3:n.3702+103_3702+104insAGA
NM_001166112.2:c.3621+103_3621+104insAGA	NP_001159584.1:n.3621+103_3621+104insAGA