Canonical Allele Identifier: CA631325785

Gene: PNPLA6

Linked Data

• dbSNP Id: rs1301258704
• gnomAD v2: 19-7625841-CCAGGGGCCCCAAG-C
• gnomAD v3: 19-7560955-CCAGGGGCCCCAAG-C
• gnomAD v4: 19-7560955-CCAGGGGCCCCAAG-C
• MyVariant Identifiers: chr19:g.7625842_7625854del (hg19) ; chr19:g.7560956_7560968del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7560956_7560968del , CM000681.2:g.7560956_7560968del	GRCh38
NC_000019.9:g.7625842_7625854del , CM000681.1:g.7625842_7625854del	GRCh37
NC_000019.8:g.7531842_7531854del	NCBI36
NG_013374.1:g.31805_31817del

Transcript Alleles

HGVS	Amino-acid change
ENST00000600737.6:c.3817-58_3817-46del MANE Select	ENSP00000473211.1:n.3817-58_3817-46del
ENST00000221249.10:c.3703-58_3703-46del	ENSP00000221249.5:n.3703-58_3703-46del
ENST00000414982.7:c.3847-58_3847-46del	ENSP00000407509.2:n.3847-58_3847-46del
ENST00000450331.7:c.3703-58_3703-46del	ENSP00000394348.2:n.3703-58_3703-46del
ENST00000545201.6:c.3622-58_3622-46del	ENSP00000443323.1:n.3622-58_3622-46del
ENST00000597202.1:n.175-58_175-46del
ENST00000599947.1:c.186-58_186-46del
ENST00000600737.5:c.3817-58_3817-46del	ENSP00000473211.1:n.3817-58_3817-46del
NM_001166111.1:c.3847-58_3847-46del	NP_001159583.1:n.3847-58_3847-46del
NM_001166112.1:c.3622-58_3622-46del	NP_001159584.1:n.3622-58_3622-46del
NM_001166113.1:c.3703-58_3703-46del	NP_001159585.1:n.3703-58_3703-46del
NM_001166114.1:c.3817-58_3817-46del	NP_001159586.1:n.3817-58_3817-46del
NM_006702.4:c.3703-58_3703-46del	NP_006693.3:n.3703-58_3703-46del
NM_001166111.2:c.3847-58_3847-46del	NP_001159583.1:n.3847-58_3847-46del
NM_001166114.2:c.3817-58_3817-46del MANE Select	NP_001159586.1:n.3817-58_3817-46del
NM_006702.5:c.3703-58_3703-46del	NP_006693.3:n.3703-58_3703-46del
NM_001166112.2:c.3622-58_3622-46del	NP_001159584.1:n.3622-58_3622-46del