Canonical Allele Identifier: CA8234343

Gene: APRT

Linked Data

• dbSNP Id: rs781486778
• ExAC: 16:88876120 GGA / G
• gnomAD v2: 16-88876120-GGA-G
• gnomAD v3: 16-88809712-GGA-G
• gnomAD v4: 16-88809712-GGA-G
• MyVariant Identifiers: chr16:g.88876121_88876122del (hg19) ; chr16:g.88809713_88809714del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88809719_88809720del , CM000678.2:g.88809719_88809720del	GRCh38
NC_000016.9:g.88876127_88876128del , CM000678.1:g.88876127_88876128del	GRCh37
NC_000016.8:g.87403628_87403629del	NCBI36
NG_008013.1:g.7221_7222del
NG_028266.1:g.10942_10943del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378364.8:c.527_528del MANE Select	ENSP00000367615.3:p.Leu176ProfsTer4
ENST00000378364.7:c.527_528del	ENSP00000367615.3:p.Leu176ProfsTer4
ENST00000426324.6:c.401-8_401-7del	ENSP00000397007.2:n.401-8_401-7del
ENST00000563655.5:c.446_447del	ENSP00000456012.1:p.Leu149ProfsTer4
ENST00000567057.5:n.200-8_200-7del
ENST00000567391.5:c.*201_*202del	ENSP00000457964.1:n.*201_*202del
ENST00000567713.5:c.322-179_322-178del	ENSP00000455749.1:n.322-179_322-178del
ENST00000568319.5:c.*75-8_*75-7del	ENSP00000456905.1:n.*75-8_*75-7del
ENST00000568575.1:n.456_457del
ENST00000569616.1:c.592_593del
NM_000485.2:c.527_528del	NP_000476.1:p.Leu176ProfsTer4
NM_001030018.1:c.401-8_401-7del	NP_001025189.1:n.401-8_401-7del
NM_000485.3:c.527_528del MANE Select	NP_000476.1:p.Leu176ProfsTer4
NM_001030018.2:c.401-8_401-7del	NP_001025189.1:n.401-8_401-7del