Canonical Allele Identifier: CA2808070179
Gene: APRT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88810274_88810278del , CM000678.2:g.88810274_88810278del GRCh38
NC_000016.9:g.88876682_88876686del , CM000678.1:g.88876682_88876686del GRCh37
NC_000016.8:g.87404183_87404187del NCBI36
NG_008013.1:g.6661_6665del
NG_028266.1:g.11497_11501del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378364.8:c.322-126_322-122del MANE Select ENSP00000367615.3:n.322-126_322-122del
ENST00000378364.7:c.322-126_322-122del ENSP00000367615.3:n.322-126_322-122del
ENST00000426324.6:c.322-126_322-122del ENSP00000397007.2:n.322-126_322-122del
ENST00000562464.1:n.332-126_332-122del
ENST00000563655.5:c.241-126_241-122del ENSP00000456012.1:n.241-126_241-122del
ENST00000567391.5:c.188-126_188-122del ENSP00000457964.1:n.188-126_188-122del
ENST00000567713.5:c.321+149_321+153del ENSP00000455749.1:n.321+149_321+153del
ENST00000568319.5:c.188-126_188-122del ENSP00000456905.1:n.188-126_188-122del
ENST00000568575.1:n.125_129del
ENST00000569616.1:c.320-126_320-122del
NM_000485.2:c.322-126_322-122del NP_000476.1:n.322-126_322-122del
NM_001030018.1:c.322-126_322-122del NP_001025189.1:n.322-126_322-122del
NM_000485.3:c.322-126_322-122del MANE Select NP_000476.1:n.322-126_322-122del
NM_001030018.2:c.322-126_322-122del NP_001025189.1:n.322-126_322-122del