Canonical Allele Identifier: CA2634887059

Gene: APRT

Linked Data

• gnomAD v4: 16-88809624-T-TG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88809626dup , CM000678.2:g.88809626dup	GRCh38
NC_000016.9:g.88876034dup , CM000678.1:g.88876034dup	GRCh37
NC_000016.8:g.87403535dup	NCBI36
NG_008013.1:g.7310dup
NG_028266.1:g.10849dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378364.8:c.*73dup MANE Select	ENSP00000367615.3:n.*73dup
ENST00000378364.7:c.*73dup	ENSP00000367615.3:n.*73dup
ENST00000426324.6:c.*77dup	ENSP00000397007.2:n.*77dup
ENST00000563655.5:c.*73dup	ENSP00000456012.1:n.*73dup
ENST00000567057.5:n.281dup
ENST00000567391.5:c.*290dup	ENSP00000457964.1:n.*290dup
ENST00000567713.5:c.322-90dup	ENSP00000455749.1:n.322-90dup
ENST00000568319.5:c.*156dup	ENSP00000456905.1:n.*156dup
ENST00000569616.1:c.681dup
NM_000485.2:c.*73dup	NP_000476.1:n.*73dup
NM_001030018.1:c.*77dup	NP_001025189.1:n.*77dup
NM_000485.3:c.*73dup MANE Select	NP_000476.1:n.*73dup
NM_001030018.2:c.*77dup	NP_001025189.1:n.*77dup