Canonical Allele Identifier: CA2634887066

Gene: APRT

Linked Data

• gnomAD v4: 16-88809646-CTGA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88809648_88809650del , CM000678.2:g.88809648_88809650del	GRCh38
NC_000016.9:g.88876056_88876058del , CM000678.1:g.88876056_88876058del	GRCh37
NC_000016.8:g.87403557_87403559del	NCBI36
NG_008013.1:g.7286_7288del
NG_028266.1:g.10871_10873del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378364.8:c.*49_*51del MANE Select	ENSP00000367615.3:n.*49_*51del
ENST00000378364.7:c.*49_*51del	ENSP00000367615.3:n.*49_*51del
ENST00000426324.6:c.*53_*55del	ENSP00000397007.2:n.*53_*55del
ENST00000563655.5:c.*49_*51del	ENSP00000456012.1:n.*49_*51del
ENST00000567057.5:n.257_259del
ENST00000567391.5:c.*266_*268del	ENSP00000457964.1:n.*266_*268del
ENST00000567713.5:c.322-114_322-112del	ENSP00000455749.1:n.322-114_322-112del
ENST00000568319.5:c.*132_*134del	ENSP00000456905.1:n.*132_*134del
ENST00000569616.1:c.657_659del
NM_000485.2:c.*49_*51del	NP_000476.1:n.*49_*51del
NM_001030018.1:c.*53_*55del	NP_001025189.1:n.*53_*55del
NM_000485.3:c.*49_*51del MANE Select	NP_000476.1:n.*49_*51del
NM_001030018.2:c.*53_*55del	NP_001025189.1:n.*53_*55del