Canonical Allele Identifier: CA2634887333

Gene: APRT

Linked Data

• gnomAD v4: 16-88810133-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88810135del , CM000678.2:g.88810135del	GRCh38
NC_000016.9:g.88876543del , CM000678.1:g.88876543del	GRCh37
NC_000016.8:g.87404044del	NCBI36
NG_008013.1:g.6801del
NG_028266.1:g.11358del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378364.8:c.336del MANE Select	ENSP00000367615.3:p.Gln113ArgfsTer24
ENST00000378364.7:c.336del	ENSP00000367615.3:p.Gln113ArgfsTer24
ENST00000426324.6:c.336del	ENSP00000397007.2:p.Gln113ArgfsTer24
ENST00000562464.1:n.346del
ENST00000563655.5:c.255del	ENSP00000456012.1:p.Gln86ArgfsTer24
ENST00000567057.5:n.135del
ENST00000567391.5:c.*10del	ENSP00000457964.1:n.*10del
ENST00000567713.5:c.321+289del	ENSP00000455749.1:n.321+289del
ENST00000568319.5:c.*10del	ENSP00000456905.1:n.*10del
ENST00000568575.1:n.265del
ENST00000569616.1:c.334del
NM_000485.2:c.336del	NP_000476.1:p.Gln113ArgfsTer24
NM_001030018.1:c.336del	NP_001025189.1:p.Gln113ArgfsTer24
NM_000485.3:c.336del MANE Select	NP_000476.1:p.Gln113ArgfsTer24
NM_001030018.2:c.336del	NP_001025189.1:p.Gln113ArgfsTer24