Canonical Allele Identifier: CA2587956028

Gene: PNPLA6

Linked Data

• gnomAD v4: 19-7554933-AGCAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7554934_7554937del , CM000681.2:g.7554934_7554937del	GRCh38
NC_000019.9:g.7619820_7619823del , CM000681.1:g.7619820_7619823del	GRCh37
NC_000019.8:g.7525820_7525823del	NCBI36
NG_013374.1:g.25783_25786del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000600737.6:c.2676_2679del MANE Select	ENSP00000473211.1:p.Lys892AsnfsTer2
ENST00000221249.10:c.2562_2565del	ENSP00000221249.5:p.Lys854AsnfsTer2
ENST00000414982.7:c.2706_2709del	ENSP00000407509.2:p.Lys902AsnfsTer2
ENST00000450331.7:c.2562_2565del	ENSP00000394348.2:p.Lys854AsnfsTer2
ENST00000545201.6:c.2481_2484del	ENSP00000443323.1:p.Lys827AsnfsTer2
ENST00000600737.5:c.2676_2679del	ENSP00000473211.1:p.Lys892AsnfsTer2
NM_001166111.1:c.2706_2709del	NP_001159583.1:p.Lys902AsnfsTer2
NM_001166112.1:c.2481_2484del	NP_001159584.1:p.Lys827AsnfsTer2
NM_001166113.1:c.2562_2565del	NP_001159585.1:p.Lys854AsnfsTer2
NM_001166114.1:c.2676_2679del	NP_001159586.1:p.Lys892AsnfsTer2
NM_006702.4:c.2562_2565del	NP_006693.3:p.Lys854AsnfsTer2
NM_001166111.2:c.2706_2709del	NP_001159583.1:p.Lys902AsnfsTer2
NM_001166114.2:c.2676_2679del MANE Select	NP_001159586.1:p.Lys892AsnfsTer2
NM_006702.5:c.2562_2565del	NP_006693.3:p.Lys854AsnfsTer2
NM_001166112.2:c.2481_2484del	NP_001159584.1:p.Lys827AsnfsTer2