Canonical Allele Identifier: CA2241307804
Gene: APRT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88809628_88809629delinsCA , CM000678.2:g.88809628_88809629delinsCA GRCh38
NC_000016.9:g.88876036_88876037delinsCA , CM000678.1:g.88876036_88876037delinsCA GRCh37
NC_000016.8:g.87403537_87403538delinsCA NCBI36
NG_008013.1:g.7306_7307delinsTG
NG_028266.1:g.10851_10852delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000378364.8:c.*69_*70delinsTG MANE Select ENSP00000367615.3:n.*69_*70delinsTG
ENST00000378364.7:c.*69_*70delinsTG ENSP00000367615.3:n.*69_*70delinsTG
ENST00000426324.6:c.*73_*74delinsTG ENSP00000397007.2:n.*73_*74delinsTG
ENST00000563655.5:c.*69_*70delinsTG ENSP00000456012.1:n.*69_*70delinsTG
ENST00000567057.5:n.277_278delinsTG
ENST00000567391.5:c.*286_*287delinsTG ENSP00000457964.1:n.*286_*287delinsTG
ENST00000567713.5:c.322-94_322-93delinsTG ENSP00000455749.1:n.322-94_322-93delinsTG
ENST00000568319.5:c.*152_*153delinsTG ENSP00000456905.1:n.*152_*153delinsTG
ENST00000569616.1:c.677_678delinsTG
NM_000485.2:c.*69_*70delinsTG NP_000476.1:n.*69_*70delinsTG
NM_001030018.1:c.*73_*74delinsTG NP_001025189.1:n.*73_*74delinsTG
NM_000485.3:c.*69_*70delinsTG MANE Select NP_000476.1:n.*69_*70delinsTG
NM_001030018.2:c.*73_*74delinsTG NP_001025189.1:n.*73_*74delinsTG