Canonical Allele Identifier: CA2841422826
Gene: APRT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88809686del , CM000678.2:g.88809686del GRCh38
NC_000016.9:g.88876094del , CM000678.1:g.88876094del GRCh37
NC_000016.8:g.87403595del NCBI36
NG_008013.1:g.7251del
NG_028266.1:g.10909del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378364.8:c.*14del MANE Select ENSP00000367615.3:n.*14del
ENST00000378364.7:c.*14del ENSP00000367615.3:n.*14del
ENST00000426324.6:c.*18del ENSP00000397007.2:n.*18del
ENST00000563655.5:c.*14del ENSP00000456012.1:n.*14del
ENST00000567057.5:n.222del
ENST00000567391.5:c.*231del ENSP00000457964.1:n.*231del
ENST00000567713.5:c.322-149del ENSP00000455749.1:n.322-149del
ENST00000568319.5:c.*97del ENSP00000456905.1:n.*97del
ENST00000568575.1:n.486del
ENST00000569616.1:c.622del
NM_000485.2:c.*14del NP_000476.1:n.*14del
NM_001030018.1:c.*18del NP_001025189.1:n.*18del
NM_000485.3:c.*14del MANE Select NP_000476.1:n.*14del
NM_001030018.2:c.*18del NP_001025189.1:n.*18del