Canonical Allele Identifier: CA2241308375

Gene: APRT

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88810457_88810464delinsGTGGGGCC , CM000678.2:g.88810457_88810464delinsGTGGGGCC	GRCh38
NC_000016.9:g.88876865_88876872delinsGTGGGGCC , CM000678.1:g.88876865_88876872delinsGTGGGGCC	GRCh37
NC_000016.8:g.87404366_87404373delinsGTGGGGCC	NCBI36
NG_008013.1:g.6471_6478delinsGGCCCCAC
NG_028266.1:g.11680_11687delinsGTGGGGCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000378364.8:c.280_287delinsGGCCCCAC MANE Select	ENSP00000367615.3:p.Gly94=
ENST00000378364.7:c.280_287delinsGGCCCCAC	ENSP00000367615.3:p.Gly94=
ENST00000426324.6:c.280_287delinsGGCCCCAC	ENSP00000397007.2:p.Gly94=
ENST00000562464.1:n.332-316_332-309delinsGGCCCCAC
ENST00000563655.5:c.241-316_241-309delinsGGCCCCAC	ENSP00000456012.1:n.241-316_241-309delins...
ENST00000567391.5:c.188-316_188-309delinsGGCCCCAC	ENSP00000457964.1:n.188-316_188-309delins...
ENST00000567713.5:c.280_287delinsGGCCCCAC	ENSP00000455749.1:p.Gly94=
ENST00000568319.5:c.188-316_188-309delinsGGCCCCAC	ENSP00000456905.1:n.188-316_188-309delins...
ENST00000569616.1:c.278_285delinsGGCCCCAC
NM_000485.2:c.280_287delinsGGCCCCAC	NP_000476.1:p.Gly94=
NM_001030018.1:c.280_287delinsGGCCCCAC	NP_001025189.1:p.Gly94=
NM_000485.3:c.280_287delinsGGCCCCAC MANE Select	NP_000476.1:p.Gly94=
NM_001030018.2:c.280_287delinsGGCCCCAC	NP_001025189.1:p.Gly94=