Canonical Allele Identifier: CA2634887916

Gene: APRT

Linked Data

• gnomAD v4: 16-88810450-CCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88810453_88810454del , CM000678.2:g.88810453_88810454del	GRCh38
NC_000016.9:g.88876861_88876862del , CM000678.1:g.88876861_88876862del	GRCh37
NC_000016.8:g.87404362_87404363del	NCBI36
NG_008013.1:g.6483_6484del
NG_028266.1:g.11676_11677del

Transcript Alleles

HGVS	Amino-acid change
ENST00000378364.8:c.292_293del MANE Select	ENSP00000367615.3:p.Trp98GlyfsTer11
ENST00000378364.7:c.292_293del	ENSP00000367615.3:p.Trp98GlyfsTer11
ENST00000426324.6:c.292_293del	ENSP00000397007.2:p.Trp98GlyfsTer11
ENST00000562464.1:n.332-304_332-303del
ENST00000563655.5:c.241-304_241-303del	ENSP00000456012.1:n.241-304_241-303del
ENST00000567391.5:c.188-304_188-303del	ENSP00000457964.1:n.188-304_188-303del
ENST00000567713.5:c.292_293del	ENSP00000455749.1:p.Trp98GlyfsTer16
ENST00000568319.5:c.188-304_188-303del	ENSP00000456905.1:n.188-304_188-303del
ENST00000569616.1:c.290_291del
NM_000485.2:c.292_293del	NP_000476.1:p.Trp98GlyfsTer11
NM_001030018.1:c.292_293del	NP_001025189.1:p.Trp98GlyfsTer11
NM_000485.3:c.292_293del MANE Select	NP_000476.1:p.Trp98GlyfsTer11
NM_001030018.2:c.292_293del	NP_001025189.1:p.Trp98GlyfsTer11