Canonical Allele Identifier: CA2241308234
Gene: APRT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88810267_88810274delinsGTGAGCCC , CM000678.2:g.88810267_88810274delinsGTGAGCCC GRCh38
NC_000016.9:g.88876675_88876682delinsGTGAGCCC , CM000678.1:g.88876675_88876682delinsGTGAGCCC GRCh37
NC_000016.8:g.87404176_87404183delinsGTGAGCCC NCBI36
NG_008013.1:g.6661_6668delinsGGGCTCAC
NG_028266.1:g.11490_11497delinsGTGAGCCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000378364.8:c.322-126_322-119delinsGGGCTCAC MANE Select ENSP00000367615.3:n.322-126_322-119delinsGGGCTCAC
ENST00000378364.7:c.322-126_322-119delinsGGGCTCAC ENSP00000367615.3:n.322-126_322-119delinsGGGCTCAC
ENST00000426324.6:c.322-126_322-119delinsGGGCTCAC ENSP00000397007.2:n.322-126_322-119delinsGGGCTCAC
ENST00000562464.1:n.332-126_332-119delinsGGGCTCAC
ENST00000563655.5:c.241-126_241-119delinsGGGCTCAC ENSP00000456012.1:n.241-126_241-119delinsGGGCTCAC
ENST00000567391.5:c.188-126_188-119delinsGGGCTCAC ENSP00000457964.1:n.188-126_188-119delinsGGGCTCAC
ENST00000567713.5:c.321+149_321+156delinsGGGCTCAC ENSP00000455749.1:n.321+149_321+156delinsGGGCTCAC
ENST00000568319.5:c.188-126_188-119delinsGGGCTCAC ENSP00000456905.1:n.188-126_188-119delinsGGGCTCAC
ENST00000568575.1:n.125_132delinsGGGCTCAC
ENST00000569616.1:c.320-126_320-119delinsGGGCTCAC
NM_000485.2:c.322-126_322-119delinsGGGCTCAC NP_000476.1:n.322-126_322-119delinsGGGCTCAC
NM_001030018.1:c.322-126_322-119delinsGGGCTCAC NP_001025189.1:n.322-126_322-119delinsGGGCTCAC
NM_000485.3:c.322-126_322-119delinsGGGCTCAC MANE Select NP_000476.1:n.322-126_322-119delinsGGGCTCAC
NM_001030018.2:c.322-126_322-119delinsGGGCTCAC NP_001025189.1:n.322-126_322-119delinsGGGCTCAC