Canonical Allele Identifier: CA2587958458

Gene: PNPLA6

Linked Data

• gnomAD v4: 19-7561228-A-ATTCCAGGAGAGGAGT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7561228_7561229insTTCCAGGAGAGGAGT , CM000681.2:g.7561228_7561229insTTCCAGGAGAGGAGT	GRCh38
NC_000019.9:g.7626114_7626115insTTCCAGGAGAGGAGT , CM000681.1:g.7626114_7626115insTTCCAGGAGAGGAGT	GRCh37
NC_000019.8:g.7532114_7532115insTTCCAGGAGAGGAGT	NCBI36
NG_013374.1:g.32077_32078insTTCCAGGAGAGGAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000600737.6:c.3934_3935insTTCCAGGAGAGGAGT MANE Select	ENSP00000473211.1:p.Thr1312delinsIleProGlyGluGluSer
ENST00000221249.10:c.3820_3821insTTCCAGGAGAGGAGT	ENSP00000221249.5:p.Thr1274delinsIleProGlyGluGluSer
ENST00000414982.7:c.3964_3965insTTCCAGGAGAGGAGT	ENSP00000407509.2:p.Thr1322delinsIleProGlyGluGluSer
ENST00000450331.7:c.3820_3821insTTCCAGGAGAGGAGT	ENSP00000394348.2:p.Thr1274delinsIleProGlyGluGluSer
ENST00000545201.6:c.3739_3740insTTCCAGGAGAGGAGT	ENSP00000443323.1:p.Thr1247delinsIleProGlyGluGluSer
ENST00000597202.1:n.292_293insTTCCAGGAGAGGAGT
ENST00000599947.1:c.303_304insTTCCAGGAGAGGAGT
ENST00000600737.5:c.3934_3935insTTCCAGGAGAGGAGT	ENSP00000473211.1:p.Thr1312delinsIleProGlyGluGluSer
NM_001166111.1:c.3964_3965insTTCCAGGAGAGGAGT	NP_001159583.1:p.Thr1322delinsIleProGlyGluGluSer
NM_001166112.1:c.3739_3740insTTCCAGGAGAGGAGT	NP_001159584.1:p.Thr1247delinsIleProGlyGluGluSer
NM_001166113.1:c.3820_3821insTTCCAGGAGAGGAGT	NP_001159585.1:p.Thr1274delinsIleProGlyGluGluSer
NM_001166114.1:c.3934_3935insTTCCAGGAGAGGAGT	NP_001159586.1:p.Thr1312delinsIleProGlyGluGluSer
NM_006702.4:c.3820_3821insTTCCAGGAGAGGAGT	NP_006693.3:p.Thr1274delinsIleProGlyGluGluSer
NM_001166111.2:c.3964_3965insTTCCAGGAGAGGAGT	NP_001159583.1:p.Thr1322delinsIleProGlyGluGluSer
NM_001166114.2:c.3934_3935insTTCCAGGAGAGGAGT MANE Select	NP_001159586.1:p.Thr1312delinsIleProGlyGluGluSer
NM_006702.5:c.3820_3821insTTCCAGGAGAGGAGT	NP_006693.3:p.Thr1274delinsIleProGlyGluGluSer
NM_001166112.2:c.3739_3740insTTCCAGGAGAGGAGT	NP_001159584.1:p.Thr1247delinsIleProGlyGluGluSer