Canonical Allele Identifier: CA8234448

Gene: APRT

Linked Data

• dbSNP Id: rs760635677
• ExAC: 16:88876535 CT / C
• gnomAD v2: 16-88876535-CT-C
• gnomAD v4: 16-88810127-CT-C
• MyVariant Identifiers: chr16:g.88876536del (hg19) ; chr16:g.88810128del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88810130del , CM000678.2:g.88810130del	GRCh38
NC_000016.9:g.88876538del , CM000678.1:g.88876538del	GRCh37
NC_000016.8:g.87404039del	NCBI36
NG_008013.1:g.6807del
NG_028266.1:g.11353del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378364.8:c.342del MANE Select	ENSP00000367615.3:p.Asp115ThrfsTer22
ENST00000378364.7:c.342del	ENSP00000367615.3:p.Asp115ThrfsTer22
ENST00000426324.6:c.342del	ENSP00000397007.2:p.Asp115ThrfsTer22
ENST00000562464.1:n.352del
ENST00000563655.5:c.261del	ENSP00000456012.1:p.Asp88ThrfsTer22
ENST00000567057.5:n.141del
ENST00000567391.5:c.*16del	ENSP00000457964.1:n.*16del
ENST00000567713.5:c.321+295del	ENSP00000455749.1:n.321+295del
ENST00000568319.5:c.*16del	ENSP00000456905.1:n.*16del
ENST00000568575.1:n.271del
ENST00000569616.1:c.340del
NM_000485.2:c.342del	NP_000476.1:p.Asp115ThrfsTer22
NM_001030018.1:c.342del	NP_001025189.1:p.Asp115ThrfsTer22
NM_000485.3:c.342del MANE Select	NP_000476.1:p.Asp115ThrfsTer22
NM_001030018.2:c.342del	NP_001025189.1:p.Asp115ThrfsTer22