Canonical Allele Identifier: CA2587958456

Gene: PNPLA6

Linked Data

• gnomAD v4: 19-7561221-TTGTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7561224_7561227del , CM000681.2:g.7561224_7561227del	GRCh38
NC_000019.9:g.7626110_7626113del , CM000681.1:g.7626110_7626113del	GRCh37
NC_000019.8:g.7532110_7532113del	NCBI36
NG_013374.1:g.32073_32076del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000600737.6:c.3930_3933del MANE Select	ENSP00000473211.1:p.Cys1310Ter
ENST00000221249.10:c.3816_3819del	ENSP00000221249.5:p.Cys1272Ter
ENST00000414982.7:c.3960_3963del	ENSP00000407509.2:p.Cys1320Ter
ENST00000450331.7:c.3816_3819del	ENSP00000394348.2:p.Cys1272Ter
ENST00000545201.6:c.3735_3738del	ENSP00000443323.1:p.Cys1245Ter
ENST00000597202.1:n.288_291del
ENST00000599947.1:c.299_302del
ENST00000600737.5:c.3930_3933del	ENSP00000473211.1:p.Cys1310Ter
NM_001166111.1:c.3960_3963del	NP_001159583.1:p.Cys1320Ter
NM_001166112.1:c.3735_3738del	NP_001159584.1:p.Cys1245Ter
NM_001166113.1:c.3816_3819del	NP_001159585.1:p.Cys1272Ter
NM_001166114.1:c.3930_3933del	NP_001159586.1:p.Cys1310Ter
NM_006702.4:c.3816_3819del	NP_006693.3:p.Cys1272Ter
NM_001166111.2:c.3960_3963del	NP_001159583.1:p.Cys1320Ter
NM_001166114.2:c.3930_3933del MANE Select	NP_001159586.1:p.Cys1310Ter
NM_006702.5:c.3816_3819del	NP_006693.3:p.Cys1272Ter
NM_001166112.2:c.3735_3738del	NP_001159584.1:p.Cys1245Ter