Canonical Allele Identifier: CA2841422819
Gene: APRT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88809665del , CM000678.2:g.88809665del GRCh38
NC_000016.9:g.88876073del , CM000678.1:g.88876073del GRCh37
NC_000016.8:g.87403574del NCBI36
NG_008013.1:g.7271del
NG_028266.1:g.10888del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378364.8:c.*34del MANE Select ENSP00000367615.3:n.*34del
ENST00000378364.7:c.*34del ENSP00000367615.3:n.*34del
ENST00000426324.6:c.*38del ENSP00000397007.2:n.*38del
ENST00000563655.5:c.*34del ENSP00000456012.1:n.*34del
ENST00000567057.5:n.242del
ENST00000567391.5:c.*251del ENSP00000457964.1:n.*251del
ENST00000567713.5:c.322-129del ENSP00000455749.1:n.322-129del
ENST00000568319.5:c.*117del ENSP00000456905.1:n.*117del
ENST00000569616.1:c.642del
NM_000485.2:c.*34del NP_000476.1:n.*34del
NM_001030018.1:c.*38del NP_001025189.1:n.*38del
NM_000485.3:c.*34del MANE Select NP_000476.1:n.*34del
NM_001030018.2:c.*38del NP_001025189.1:n.*38del