Canonical Allele Identifier: CA258146
Gene: APRT HGNC NCBI

Linked Data

dbSNP Id: rs121912681

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88809723_88809725del , CM000678.2:g.88809723_88809725del GRCh38
NC_000016.9:g.88876131_88876133del , CM000678.1:g.88876131_88876133del GRCh37
NC_000016.8:g.87403632_87403634del NCBI36
NG_008013.1:g.7215_7217del
NG_028266.1:g.10946_10948del

Transcript Alleles

HGVS Amino-acid change
ENST00000378364.8:c.521_523del MANE Select ENSP00000367615.3:p.Phe174del
ENST00000378364.7:c.521_523del ENSP00000367615.3:p.Phe174del
ENST00000426324.6:c.401-14_401-12del ENSP00000397007.2:n.401-14_401-12del
ENST00000563655.5:c.440_442del ENSP00000456012.1:p.Phe147del
ENST00000567057.5:n.200-14_200-12del
ENST00000567391.5:c.*195_*197del ENSP00000457964.1:n.*195_*197del
ENST00000567713.5:c.322-185_322-183del ENSP00000455749.1:n.322-185_322-183del
ENST00000568319.5:c.*75-14_*75-12del ENSP00000456905.1:n.*75-14_*75-12del
ENST00000568575.1:n.450_452del
ENST00000569616.1:c.586_588del
NM_000485.2:c.521_523del NP_000476.1:p.Phe174del
NM_001030018.1:c.401-14_401-12del NP_001025189.1:n.401-14_401-12del
NM_000485.3:c.521_523del MANE Select NP_000476.1:p.Phe174del
NM_001030018.2:c.401-14_401-12del NP_001025189.1:n.401-14_401-12del