Canonical Allele Identifier: CA2241307848

Gene: APRT

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88809702_88809706delinsTCATA , CM000678.2:g.88809702_88809706delinsTCATA	GRCh38
NC_000016.9:g.88876110_88876114delinsTCATA , CM000678.1:g.88876110_88876114delinsTCATA	GRCh37
NC_000016.8:g.87403611_87403615delinsTCATA	NCBI36
NG_008013.1:g.7229_7233delinsTATGA
NG_028266.1:g.10925_10929delinsTCATA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378364.8:c.535_539delinsTATGA MANE Select	ENSP00000367615.3:p.Tyr179=
ENST00000378364.7:c.535_539delinsTATGA	ENSP00000367615.3:p.Tyr179=
ENST00000426324.6:c.401_405delinsTATGA	ENSP00000397007.2:p.Val134=
ENST00000563655.5:c.454_458delinsTATGA	ENSP00000456012.1:p.Tyr152=
ENST00000567057.5:n.200_204delinsTATGA
ENST00000567391.5:c.*209_*213delinsTATGA	ENSP00000457964.1:n.*209_*213delinsTATGA
ENST00000567713.5:c.322-171_322-167delinsTATGA	ENSP00000455749.1:n.322-171_322-167delinsTATGA
ENST00000568319.5:c.*75_*79delinsTATGA	ENSP00000456905.1:n.*75_*79delinsTATGA
ENST00000568575.1:n.464_468delinsTATGA
ENST00000569616.1:c.600_604delinsTATGA
NM_000485.2:c.535_539delinsTATGA	NP_000476.1:p.Tyr179=
NM_001030018.1:c.401_405delinsTATGA	NP_001025189.1:p.Val134=
NM_000485.3:c.535_539delinsTATGA MANE Select	NP_000476.1:p.Tyr179=
NM_001030018.2:c.401_405delinsTATGA	NP_001025189.1:p.Val134=