Canonical Allele Identifier: CA2241308052

Gene: APRT

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88809996_88809998delinsTCA , CM000678.2:g.88809996_88809998delinsTCA	GRCh38
NC_000016.9:g.88876404_88876406delinsTCA , CM000678.1:g.88876404_88876406delinsTCA	GRCh37
NC_000016.8:g.87403905_87403907delinsTCA	NCBI36
NG_008013.1:g.6937_6939delinsTGA
NG_028266.1:g.11219_11221delinsTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378364.8:c.400+72_400+74delinsTGA MANE Select	ENSP00000367615.3:n.400+72_400+74delinsTGA
ENST00000378364.7:c.400+72_400+74delinsTGA	ENSP00000367615.3:n.400+72_400+74delinsTGA
ENST00000426324.6:c.400+72_400+74delinsTGA	ENSP00000397007.2:n.400+72_400+74delinsTGA
ENST00000562464.1:n.410+72_410+74delinsTGA
ENST00000563655.5:c.319+72_319+74delinsTGA	ENSP00000456012.1:n.319+72_319+74delinsTGA
ENST00000567057.5:n.199+72_199+74delinsTGA
ENST00000567391.5:c.*74+72_*74+74delinsTGA	ENSP00000457964.1:n.*74+72_*74+74delinsTGA
ENST00000567713.5:c.321+425_321+427delinsTGA	ENSP00000455749.1:n.321+425_321+427delinsTGA
ENST00000568319.5:c.*74+72_*74+74delinsTGA	ENSP00000456905.1:n.*74+72_*74+74delinsTGA
ENST00000568575.1:n.329+72_329+74delinsTGA
ENST00000569616.1:c.398+72_398+74delinsTGA
NM_000485.2:c.400+72_400+74delinsTGA	NP_000476.1:n.400+72_400+74delinsTGA
NM_001030018.1:c.400+72_400+74delinsTGA	NP_001025189.1:n.400+72_400+74delinsTGA
NM_000485.3:c.400+72_400+74delinsTGA MANE Select	NP_000476.1:n.400+72_400+74delinsTGA
NM_001030018.2:c.400+72_400+74delinsTGA	NP_001025189.1:n.400+72_400+74delinsTGA