Canonical Allele Identifier: CA2634887292

Gene: APRT

Linked Data

• gnomAD v4: 16-88810087-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88810088del , CM000678.2:g.88810088del	GRCh38
NC_000016.9:g.88876496del , CM000678.1:g.88876496del	GRCh37
NC_000016.8:g.87403997del	NCBI36
NG_008013.1:g.6847del
NG_028266.1:g.11311del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378364.8:c.382del MANE Select	ENSP00000367615.3:p.Asp128IlefsTer9
ENST00000378364.7:c.382del	ENSP00000367615.3:p.Asp128IlefsTer9
ENST00000426324.6:c.382del	ENSP00000397007.2:p.Asp128IlefsTer9
ENST00000562464.1:n.392del
ENST00000563655.5:c.301del	ENSP00000456012.1:p.Asp101IlefsTer9
ENST00000567057.5:n.181del
ENST00000567391.5:c.*56del	ENSP00000457964.1:n.*56del
ENST00000567713.5:c.321+335del	ENSP00000455749.1:n.321+335del
ENST00000568319.5:c.*56del	ENSP00000456905.1:n.*56del
ENST00000568575.1:n.311del
ENST00000569616.1:c.380del
NM_000485.2:c.382del	NP_000476.1:p.Asp128IlefsTer9
NM_001030018.1:c.382del	NP_001025189.1:p.Asp128IlefsTer9
NM_000485.3:c.382del MANE Select	NP_000476.1:p.Asp128IlefsTer9
NM_001030018.2:c.382del	NP_001025189.1:p.Asp128IlefsTer9