Canonical Allele Identifier: CA2587956032

Gene: PNPLA6

Linked Data

• gnomAD v4: 19-7554948-T-TACGGCGA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7554948_7554949insACGGCGA , CM000681.2:g.7554948_7554949insACGGCGA	GRCh38
NC_000019.9:g.7619834_7619835insACGGCGA , CM000681.1:g.7619834_7619835insACGGCGA	GRCh37
NC_000019.8:g.7525834_7525835insACGGCGA	NCBI36
NG_013374.1:g.25797_25798insACGGCGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000600737.6:c.2690_2691insACGGCGA MANE Select	ENSP00000473211.1:p.His898ArgfsTer?
ENST00000221249.10:c.2576_2577insACGGCGA	ENSP00000221249.5:p.His860ArgfsTer?
ENST00000414982.7:c.2720_2721insACGGCGA	ENSP00000407509.2:p.His908ArgfsTer?
ENST00000450331.7:c.2576_2577insACGGCGA	ENSP00000394348.2:p.His860ArgfsTer?
ENST00000545201.6:c.2495_2496insACGGCGA	ENSP00000443323.1:p.His833ArgfsTer?
ENST00000600737.5:c.2690_2691insACGGCGA	ENSP00000473211.1:p.His898ArgfsTer?
NM_001166111.1:c.2720_2721insACGGCGA	NP_001159583.1:p.His908ArgfsTer?
NM_001166112.1:c.2495_2496insACGGCGA	NP_001159584.1:p.His833ArgfsTer?
NM_001166113.1:c.2576_2577insACGGCGA	NP_001159585.1:p.His860ArgfsTer?
NM_001166114.1:c.2690_2691insACGGCGA	NP_001159586.1:p.His898ArgfsTer?
NM_006702.4:c.2576_2577insACGGCGA	NP_006693.3:p.His860ArgfsTer?
NM_001166111.2:c.2720_2721insACGGCGA	NP_001159583.1:p.His908ArgfsTer?
NM_001166114.2:c.2690_2691insACGGCGA MANE Select	NP_001159586.1:p.His898ArgfsTer?
NM_006702.5:c.2576_2577insACGGCGA	NP_006693.3:p.His860ArgfsTer?
NM_001166112.2:c.2495_2496insACGGCGA	NP_001159584.1:p.His833ArgfsTer?