Canonical Allele Identifier: CA2587958397

Gene: PNPLA6

Linked Data

• gnomAD v4: 19-7561093-CTGA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7561096_7561098del , CM000681.2:g.7561096_7561098del	GRCh38
NC_000019.9:g.7625982_7625984del , CM000681.1:g.7625982_7625984del	GRCh37
NC_000019.8:g.7531982_7531984del	NCBI36
NG_013374.1:g.31945_31947del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000600737.6:c.3899_3901del MANE Select	ENSP00000473211.1:p.Asp1300del
ENST00000221249.10:c.3785_3787del	ENSP00000221249.5:p.Asp1262del
ENST00000414982.7:c.3929_3931del	ENSP00000407509.2:p.Asp1310del
ENST00000450331.7:c.3785_3787del	ENSP00000394348.2:p.Asp1262del
ENST00000545201.6:c.3704_3706del	ENSP00000443323.1:p.Asp1235del
ENST00000597202.1:n.257_259del
ENST00000599947.1:c.268_270del
ENST00000600737.5:c.3899_3901del	ENSP00000473211.1:p.Asp1300del
NM_001166111.1:c.3929_3931del	NP_001159583.1:p.Asp1310del
NM_001166112.1:c.3704_3706del	NP_001159584.1:p.Asp1235del
NM_001166113.1:c.3785_3787del	NP_001159585.1:p.Asp1262del
NM_001166114.1:c.3899_3901del	NP_001159586.1:p.Asp1300del
NM_006702.4:c.3785_3787del	NP_006693.3:p.Asp1262del
NM_001166111.2:c.3929_3931del	NP_001159583.1:p.Asp1310del
NM_001166114.2:c.3899_3901del MANE Select	NP_001159586.1:p.Asp1300del
NM_006702.5:c.3785_3787del	NP_006693.3:p.Asp1262del
NM_001166112.2:c.3704_3706del	NP_001159584.1:p.Asp1235del