Canonical Allele Identifier: CA2634887217

Gene: APRT

Linked Data

• gnomAD v4: 16-88809977-CAGTA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88809980_88809983del , CM000678.2:g.88809980_88809983del	GRCh38
NC_000016.9:g.88876388_88876391del , CM000678.1:g.88876388_88876391del	GRCh37
NC_000016.8:g.87403889_87403892del	NCBI36
NG_008013.1:g.6954_6957del
NG_028266.1:g.11203_11206del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378364.8:c.400+89_400+92del MANE Select	ENSP00000367615.3:n.400+89_400+92del
ENST00000378364.7:c.400+89_400+92del	ENSP00000367615.3:n.400+89_400+92del
ENST00000426324.6:c.400+89_400+92del	ENSP00000397007.2:n.400+89_400+92del
ENST00000562464.1:n.410+89_410+92del
ENST00000563655.5:c.319+89_319+92del	ENSP00000456012.1:n.319+89_319+92del
ENST00000567057.5:n.199+89_199+92del
ENST00000567391.5:c.*74+89_*74+92del	ENSP00000457964.1:n.*74+89_*74+92del
ENST00000567713.5:c.321+442_322-443del	ENSP00000455749.1:n.321+442_322-443del
ENST00000568319.5:c.*74+89_*74+92del	ENSP00000456905.1:n.*74+89_*74+92del
ENST00000568575.1:n.329+89_329+92del
ENST00000569616.1:c.399-74_399-71del
NM_000485.2:c.400+89_400+92del	NP_000476.1:n.400+89_400+92del
NM_001030018.1:c.400+89_400+92del	NP_001025189.1:n.400+89_400+92del
NM_000485.3:c.400+89_400+92del MANE Select	NP_000476.1:n.400+89_400+92del
NM_001030018.2:c.400+89_400+92del	NP_001025189.1:n.400+89_400+92del