Canonical Allele Identifier: CA2587958457

Gene: PNPLA6

Linked Data

• gnomAD v4: 19-7561227-GAC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7561229_7561230del , CM000681.2:g.7561229_7561230del	GRCh38
NC_000019.9:g.7626115_7626116del , CM000681.1:g.7626115_7626116del	GRCh37
NC_000019.8:g.7532115_7532116del	NCBI36
NG_013374.1:g.32078_32079del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000600737.6:c.3935_3936del MANE Select	ENSP00000473211.1:p.Thr1312ArgfsTer3
ENST00000221249.10:c.3821_3822del	ENSP00000221249.5:p.Thr1274ArgfsTer3
ENST00000414982.7:c.3965_3966del	ENSP00000407509.2:p.Thr1322ArgfsTer3
ENST00000450331.7:c.3821_3822del	ENSP00000394348.2:p.Thr1274ArgfsTer3
ENST00000545201.6:c.3740_3741del	ENSP00000443323.1:p.Thr1247ArgfsTer3
ENST00000597202.1:n.293_294del
ENST00000599947.1:c.304_305del
ENST00000600737.5:c.3935_3936del	ENSP00000473211.1:p.Thr1312ArgfsTer3
NM_001166111.1:c.3965_3966del	NP_001159583.1:p.Thr1322ArgfsTer3
NM_001166112.1:c.3740_3741del	NP_001159584.1:p.Thr1247ArgfsTer3
NM_001166113.1:c.3821_3822del	NP_001159585.1:p.Thr1274ArgfsTer3
NM_001166114.1:c.3935_3936del	NP_001159586.1:p.Thr1312ArgfsTer3
NM_006702.4:c.3821_3822del	NP_006693.3:p.Thr1274ArgfsTer3
NM_001166111.2:c.3965_3966del	NP_001159583.1:p.Thr1322ArgfsTer3
NM_001166114.2:c.3935_3936del MANE Select	NP_001159586.1:p.Thr1312ArgfsTer3
NM_006702.5:c.3821_3822del	NP_006693.3:p.Thr1274ArgfsTer3
NM_001166112.2:c.3740_3741del	NP_001159584.1:p.Thr1247ArgfsTer3