Canonical Allele Identifier: CA2587958396

Gene: PNPLA6

Linked Data

• gnomAD v4: 19-7561029-AGCTCTG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7561033_7561038del , CM000681.2:g.7561033_7561038del	GRCh38
NC_000019.9:g.7625919_7625924del , CM000681.1:g.7625919_7625924del	GRCh37
NC_000019.8:g.7531919_7531924del	NCBI36
NG_013374.1:g.31882_31887del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000600737.6:c.3836_3841del MANE Select	ENSP00000473211.1:p.Ser1279_Gly1280del
ENST00000221249.10:c.3722_3727del	ENSP00000221249.5:p.Ser1241_Gly1242del
ENST00000414982.7:c.3866_3871del	ENSP00000407509.2:p.Ser1289_Gly1290del
ENST00000450331.7:c.3722_3727del	ENSP00000394348.2:p.Ser1241_Gly1242del
ENST00000545201.6:c.3641_3646del	ENSP00000443323.1:p.Ser1214_Gly1215del
ENST00000597202.1:n.194_199del
ENST00000599947.1:c.205_210del
ENST00000600737.5:c.3836_3841del	ENSP00000473211.1:p.Ser1279_Gly1280del
NM_001166111.1:c.3866_3871del	NP_001159583.1:p.Ser1289_Gly1290del
NM_001166112.1:c.3641_3646del	NP_001159584.1:p.Ser1214_Gly1215del
NM_001166113.1:c.3722_3727del	NP_001159585.1:p.Ser1241_Gly1242del
NM_001166114.1:c.3836_3841del	NP_001159586.1:p.Ser1279_Gly1280del
NM_006702.4:c.3722_3727del	NP_006693.3:p.Ser1241_Gly1242del
NM_001166111.2:c.3866_3871del	NP_001159583.1:p.Ser1289_Gly1290del
NM_001166114.2:c.3836_3841del MANE Select	NP_001159586.1:p.Ser1279_Gly1280del
NM_006702.5:c.3722_3727del	NP_006693.3:p.Ser1241_Gly1242del
NM_001166112.2:c.3641_3646del	NP_001159584.1:p.Ser1214_Gly1215del