Canonical Allele Identifier: CA2733021509

Gene: APRT

Linked Data

• dbSNP Id: rs2142951687

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88810138_88810139del , CM000678.2:g.88810138_88810139del	GRCh38
NC_000016.9:g.88876546_88876547del , CM000678.1:g.88876546_88876547del	GRCh37
NC_000016.8:g.87404047_87404048del	NCBI36
NG_008013.1:g.6798_6799del
NG_028266.1:g.11361_11362del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378364.8:c.333_334del MANE Select	ENSP00000367615.3:p.Glu111AspfsTer17
ENST00000378364.7:c.333_334del	ENSP00000367615.3:p.Glu111AspfsTer17
ENST00000426324.6:c.333_334del	ENSP00000397007.2:p.Glu111AspfsTer17
ENST00000562464.1:n.343_344del
ENST00000563655.5:c.252_253del	ENSP00000456012.1:p.Glu84AspfsTer17
ENST00000567057.5:n.132_133del
ENST00000567391.5:c.*7_*8del	ENSP00000457964.1:n.*7_*8del
ENST00000567713.5:c.321+286_321+287del	ENSP00000455749.1:n.321+286_321+287del
ENST00000568319.5:c.*7_*8del	ENSP00000456905.1:n.*7_*8del
ENST00000568575.1:n.262_263del
ENST00000569616.1:c.331_332del
NM_000485.2:c.333_334del	NP_000476.1:p.Glu111AspfsTer17
NM_001030018.1:c.333_334del	NP_001025189.1:p.Glu111AspfsTer17
NM_000485.3:c.333_334del MANE Select	NP_000476.1:p.Glu111AspfsTer17
NM_001030018.2:c.333_334del	NP_001025189.1:p.Glu111AspfsTer17