Canonical Allele Identifier: CA2320979317

Gene: PNPLA6

Linked Data

• dbSNP Id: rs2024061231
• gnomAD v4: 19-7560665-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7560668del , CM000681.2:g.7560668del	GRCh38
NC_000019.9:g.7625554del , CM000681.1:g.7625554del	GRCh37
NC_000019.8:g.7531554del	NCBI36
NG_013374.1:g.31517del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000600737.6:c.3720del MANE Select	ENSP00000473211.1:p.Lys1241ArgfsTer?
ENST00000221249.10:c.3606del	ENSP00000221249.5:p.Lys1203ArgfsTer?
ENST00000414982.7:c.3750del	ENSP00000407509.2:p.Lys1251ArgfsTer?
ENST00000450331.7:c.3606del	ENSP00000394348.2:p.Lys1203ArgfsTer?
ENST00000545201.6:c.3525del	ENSP00000443323.1:p.Lys1176ArgfsTer?
ENST00000597202.1:n.78del
ENST00000599947.1:c.186-346del
ENST00000600737.5:c.3720del	ENSP00000473211.1:p.Lys1241ArgfsTer?
NM_001166111.1:c.3750del	NP_001159583.1:p.Lys1251ArgfsTer?
NM_001166112.1:c.3525del	NP_001159584.1:p.Lys1176ArgfsTer?
NM_001166113.1:c.3606del	NP_001159585.1:p.Lys1203ArgfsTer?
NM_001166114.1:c.3720del	NP_001159586.1:p.Lys1241ArgfsTer?
NM_006702.4:c.3606del	NP_006693.3:p.Lys1203ArgfsTer?
NM_001166111.2:c.3750del	NP_001159583.1:p.Lys1251ArgfsTer?
NM_001166114.2:c.3720del MANE Select	NP_001159586.1:p.Lys1241ArgfsTer?
NM_006702.5:c.3606del	NP_006693.3:p.Lys1203ArgfsTer?
NM_001166112.2:c.3525del	NP_001159584.1:p.Lys1176ArgfsTer?