Canonical Allele Identifier: CA286425727
Gene: APRT HGNC NCBI

Linked Data

dbSNP Id: rs879169694

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88810268_88810273del , CM000678.2:g.88810268_88810273del GRCh38
NC_000016.9:g.88876676_88876681del , CM000678.1:g.88876676_88876681del GRCh37
NC_000016.8:g.87404177_87404182del NCBI36
NG_008013.1:g.6662_6667del
NG_028266.1:g.11491_11496del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378364.8:c.322-125_322-120del MANE Select ENSP00000367615.3:n.322-125_322-120del
ENST00000378364.7:c.322-125_322-120del ENSP00000367615.3:n.322-125_322-120del
ENST00000426324.6:c.322-125_322-120del ENSP00000397007.2:n.322-125_322-120del
ENST00000562464.1:n.332-125_332-120del
ENST00000563655.5:c.241-125_241-120del ENSP00000456012.1:n.241-125_241-120del
ENST00000567391.5:c.188-125_188-120del ENSP00000457964.1:n.188-125_188-120del
ENST00000567713.5:c.321+150_321+155del ENSP00000455749.1:n.321+150_321+155del
ENST00000568319.5:c.188-125_188-120del ENSP00000456905.1:n.188-125_188-120del
ENST00000568575.1:n.126_131del
ENST00000569616.1:c.320-125_320-120del
NM_000485.2:c.322-125_322-120del NP_000476.1:n.322-125_322-120del
NM_001030018.1:c.322-125_322-120del NP_001025189.1:n.322-125_322-120del
NM_000485.3:c.322-125_322-120del MANE Select NP_000476.1:n.322-125_322-120del
NM_001030018.2:c.322-125_322-120del NP_001025189.1:n.322-125_322-120del