Canonical Allele Identifier: CA8234485

Gene: APRT

Linked Data

• ClinVar Variation Id: 988051
• ClinVar RCV Id: RCV001269443
• dbSNP Id: rs776240467
• ExAC: 16:88876865 GTGGGGCC / G
• gnomAD v2: 16-88876865-GTGGGGCC-G
• gnomAD v3: 16-88810457-GTGGGGCC-G
• gnomAD v4: 16-88810457-GTGGGGCC-G
• MyVariant Identifiers: chr16:g.88876866_88876872del (hg19) ; chr16:g.88810458_88810464del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88810461_88810467del , CM000678.2:g.88810461_88810467del	GRCh38
NC_000016.9:g.88876869_88876875del , CM000678.1:g.88876869_88876875del	GRCh37
NC_000016.8:g.87404370_87404376del	NCBI36
NG_008013.1:g.6471_6477del
NG_028266.1:g.11684_11690del

Transcript Alleles

HGVS	Amino-acid change
ENST00000378364.8:c.280_286del MANE Select	ENSP00000367615.3:p.Gly94LeufsTer?
ENST00000378364.7:c.280_286del	ENSP00000367615.3:p.Gly94LeufsTer?
ENST00000426324.6:c.280_286del	ENSP00000397007.2:p.Gly94LeufsTer?
ENST00000562464.1:n.332-316_332-310del
ENST00000563655.5:c.241-316_241-310del	ENSP00000456012.1:n.241-316_241-310del
ENST00000567391.5:c.188-316_188-310del	ENSP00000457964.1:n.188-316_188-310del
ENST00000567713.5:c.280_286del	ENSP00000455749.1:p.Gly94LeufsTer29
ENST00000568319.5:c.188-316_188-310del	ENSP00000456905.1:n.188-316_188-310del
ENST00000569616.1:c.278_284del
NM_000485.2:c.280_286del	NP_000476.1:p.Gly94LeufsTer?
NM_001030018.1:c.280_286del	NP_001025189.1:p.Gly94LeufsTer?
NM_000485.3:c.280_286del MANE Select	NP_000476.1:p.Gly94LeufsTer?
NM_001030018.2:c.280_286del	NP_001025189.1:p.Gly94LeufsTer?