Canonical Allele Identifier: CA2241308126
Gene: APRT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88810104_88810106delinsCCT , CM000678.2:g.88810104_88810106delinsCCT GRCh38
NC_000016.9:g.88876512_88876514delinsCCT , CM000678.1:g.88876512_88876514delinsCCT GRCh37
NC_000016.8:g.87404013_87404015delinsCCT NCBI36
NG_008013.1:g.6829_6831delinsAGG
NG_028266.1:g.11327_11329delinsCCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000378364.8:c.364_366delinsAGG MANE Select ENSP00000367615.3:p.Arg122=
ENST00000378364.7:c.364_366delinsAGG ENSP00000367615.3:p.Arg122=
ENST00000426324.6:c.364_366delinsAGG ENSP00000397007.2:p.Arg122=
ENST00000562464.1:n.374_376delinsAGG
ENST00000563655.5:c.283_285delinsAGG ENSP00000456012.1:p.Arg95=
ENST00000567057.5:n.163_165delinsAGG
ENST00000567391.5:c.*38_*40delinsAGG ENSP00000457964.1:n.*38_*40delinsAGG
ENST00000567713.5:c.321+317_321+319delinsAGG ENSP00000455749.1:n.321+317_321+319delinsAGG
ENST00000568319.5:c.*38_*40delinsAGG ENSP00000456905.1:n.*38_*40delinsAGG
ENST00000568575.1:n.293_295delinsAGG
ENST00000569616.1:c.362_364delinsAGG
NM_000485.2:c.364_366delinsAGG NP_000476.1:p.Arg122=
NM_001030018.1:c.364_366delinsAGG NP_001025189.1:p.Arg122=
NM_000485.3:c.364_366delinsAGG MANE Select NP_000476.1:p.Arg122=
NM_001030018.2:c.364_366delinsAGG NP_001025189.1:p.Arg122=