Canonical Allele Identifier: CA2576093932
Gene: APRT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88809623del , CM000678.2:g.88809623del GRCh38
NC_000016.9:g.88876031del , CM000678.1:g.88876031del GRCh37
NC_000016.8:g.87403532del NCBI36
NG_008013.1:g.7315del
NG_028266.1:g.10846del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378364.8:c.*78del MANE Select ENSP00000367615.3:n.*78del
ENST00000378364.7:c.*78del ENSP00000367615.3:n.*78del
ENST00000426324.6:c.*82del ENSP00000397007.2:n.*82del
ENST00000563655.5:c.*78del ENSP00000456012.1:n.*78del
ENST00000567057.5:n.286del
ENST00000567391.5:c.*295del ENSP00000457964.1:n.*295del
ENST00000567713.5:c.322-85del ENSP00000455749.1:n.322-85del
ENST00000568319.5:c.*161del ENSP00000456905.1:n.*161del
ENST00000569616.1:c.686del
NM_000485.2:c.*78del NP_000476.1:n.*78del
NM_001030018.1:c.*82del NP_001025189.1:n.*82del
NM_000485.3:c.*78del MANE Select NP_000476.1:n.*78del
NM_001030018.2:c.*82del NP_001025189.1:n.*82del