Canonical Allele Identifier: CA2839599526
Gene: APRT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88809657del , CM000678.2:g.88809657del GRCh38
NC_000016.9:g.88876065del , CM000678.1:g.88876065del GRCh37
NC_000016.8:g.87403566del NCBI36
NG_008013.1:g.7280del
NG_028266.1:g.10880del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378364.8:c.*43del MANE Select ENSP00000367615.3:n.*43del
ENST00000378364.7:c.*43del ENSP00000367615.3:n.*43del
ENST00000426324.6:c.*47del ENSP00000397007.2:n.*47del
ENST00000563655.5:c.*43del ENSP00000456012.1:n.*43del
ENST00000567057.5:n.251del
ENST00000567391.5:c.*260del ENSP00000457964.1:n.*260del
ENST00000567713.5:c.322-120del ENSP00000455749.1:n.322-120del
ENST00000568319.5:c.*126del ENSP00000456905.1:n.*126del
ENST00000569616.1:c.651del
NM_000485.2:c.*43del NP_000476.1:n.*43del
NM_001030018.1:c.*47del NP_001025189.1:n.*47del
NM_000485.3:c.*43del MANE Select NP_000476.1:n.*43del
NM_001030018.2:c.*47del NP_001025189.1:n.*47del